diff --git a/KBDEV_1086.py b/KBDEV_1086.py new file mode 100644 index 0000000..791ef82 --- /dev/null +++ b/KBDEV_1086.py @@ -0,0 +1,37 @@ +from graphkb.vocab import ( + get_equivalent_terms, # similar terms or parents + get_term_by_name, # return 1 vocab record + get_term_tree, # similar terms, parents or children + get_terms_set, # similar terms or children? Only RIDs +) +from script_conn import connection + +# CONNECTION +############################################################## +env = 'dev' # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + +# INITIAL DATA +############################################################## +name = 'copy variant' + +# QUERY +############################################################## +termTree = get_term_tree(conn, name) +equiTerms = get_equivalent_terms(conn, name) +termsSet = get_terms_set(conn, name) +terms = get_term_by_name(conn, name) + +# LOGGING +############################################################## +for term in termTree: + print(term) +print() +for term in equiTerms: + print(term) +print() +for term in termsSet: + print(term) +print() +print(terms) + diff --git a/cancer_genes.txt b/cancer_genes.txt new file mode 100644 index 0000000..ec67744 --- /dev/null +++ b/cancer_genes.txt @@ -0,0 +1,507 @@ +cancer genes (506) : +ABI1 +ACKR3 +ACSL3 +ACSL6 +ACTB +ACVR1B +ACVR2A +ADGRA2 +AFDN +AFF1 +AFF3 +AGO2 +ALB +ANKRD26 +APH1A +APOBEC3B +ARFRP1 +ARHGAP26 +ARHGEF12 +ARID3C +ARID5A +ARNT +ASMTL +ASPSCR1 +ATG5 +ATIC +ATP2B3 +ATP6AP1 +BABAM1 +BAX +BCL11A +BCL2L1 +BCL2L2 +BCL7A +BCL9L +BIRC3 +BTLA +BUB1B +CACNA1D +CAD +CAMTA1 +CANT1 +CARM1 +CARS1 +CBFA2T3 +CBLB +CBLC +CCDC6 +CCN6 +CCNB1IP1 +CCT6B +CD22 +CD36 +CD70 +CD74 +CDH11 +CDX2 +CENPA +CEP43 +CHCHD7 +CHD2 +CHD4 +CHIC2 +CHN1 +CILK1 +CKS1B +CLIP1 +CLP1 +CLTC +CLTCL1 +CNBP +CNOT3 +CNTRL +COL1A1 +COL2A1 +CPS1 +CREB3L1 +CREB3L2 +CRTC1 +CRTC3 +CSDE1 +CSF1 +CSF1R +CSNK1A1 +CTNNA1 +CUL4A +CYP17A1 +DAZAP1 +DCTN1 +DDB2 +DDIT3 +DDR1 +DDX10 +DDX5 +DDX6 +DHX15 +DKK1 +DKK2 +DKK3 +DKK4 +DNAJB1 +DNM2 +DROSHA +DUSP2 +DUSP9 +EBF1 +EIF1AX +EIF3E +ELF4 +ELK4 +ELL +ELN +ELOC +ELP2 +EML4 +EMSY +EPAS1 +EPHA5 +EPHB4 +EPS15 +ERC1 +ERCC1 +ETNK1 +ETS1 +EXOSC6 +EXT2 +EZR +FAF1 +FANCE +FANCF +FANCG +FANCI +FAT4 +FBXO31 +FBXW2 +FCGR2B +FCRL4 +FES +FEV +FGF1 +FGF10 +FGF12 +FGF14 +FGF2 +FGF23 +FGF5 +FGF6 +FGF7 +FGF8 +FGF9 +FHIT +FIP1L1 +FLYWCH1 +FNBP1 +FOXO3 +FOXO4 +FRS2 +FSTL3 +GABRA6 +GADD45B +GAS7 +GATA1 +GATA4 +GATA6 +GEN1 +GID4 +GMPS +GOLGA5 +GOPC +GPC3 +GPHN +GRM3 +GTSE1 +H1-2 +H2AC11 +H2AC16 +H2AC6 +H2BC11 +H2BC12 +H2BC17 +H2BC4 +H2BC5 +H2BC8 +H3-3B +H3-4 +H3-5 +H3C1 +H3C10 +H3C11 +H3C12 +H3C13 +H3C14 +H3C15 +H3C2 +H3C3 +H3C4 +H3C6 +H3C7 +H3C8 +H3P6 +H4C9 +HERPUD1 +HEY1 +HIP1 +HIRA +HLF +HNRNPA2B1 +HNRNPK +HOOK3 +HOXA11 +HOXA13 +HOXA3 +HOXA9 +HOXC11 +HOXC13 +HOXD11 +HOXD13 +HSD3B1 +HSP90AA1 +HSP90AB1 +IGH +IGK +IGL +IKBKB +IKZF1 +IKZF2 +IL10 +IL2 +IL21R +INPP4A +INPP5D +IRF2 +IRS4 +ITK +JAZF1 +KAT6A +KAT6B +KBTBD4 +KCNJ5 +KDM2B +KDM4C +KDSR +KEL +KIF5B +KLF6 +KLHL6 +KLK2 +KMT5A +KNL1 +KNSTRN +KTN1 +LAMP1 +LARP4B +LASP1 +LCP1 +LEF1 +LIFR +LMNA +LPP +LRIG3 +LRP1B +LRRK2 +LYL1 +MAF +MAGED1 +MAGI2 +MALT1 +MAML2 +MAP3K4 +MAP3K6 +MAP3K7 +MAPKAP1 +MDC1 +MDS2 +MEF2C +MERTK +MIB1 +MKNK1 +MLF1 +MLLT1 +MLLT11 +MLLT6 +MN1 +MNX1 +MPEG1 +MRTFA +MSN +MTCP1 +MUC1 +MYB +MYH9 +MYO18A +MYO5A +NAB2 +NACA +NBEAP1 +NCOA1 +NCOA2 +NCOA4 +NCOR2 +NDRG1 +NEGR1 +NFATC2 +NFIB +NFKB2 +NFKBIE +NIN +NOD1 +NONO +NSD3 +NUMA1 +NUP93 +NUTM1 +NUTM2A +NUTM2B +OLIG2 +OMD +PAFAH1B2 +PAG1 +PAK3 +PARP2 +PARP3 +PASK +PATZ1 +PAX3 +PAX7 +PBX1 +PC +PCBP1 +PCLO +PCM1 +PCSK7 +PDCD11 +PDE4DIP +PDK1 +PDPK1 +PER1 +PHF1 +PICALM +PIK3C2B +PIK3C2G +PIK3C3 +PIM1 +PLAG1 +PLK2 +PML +PNRC1 +POLG +POLQ +POU2AF1 +POU5F1 +PPFIBP1 +PPP1CB +PPP4R2 +PRCC +PRDM14 +PRDM16 +PREX2 +PRF1 +PRKAR1A +PRKD1 +PRKDC +PRRX1 +PRSS1 +PRSS8 +PSIP1 +PTK6 +PTK7 +PTP4A1 +PTPN13 +PTPN6 +PTPRB +PTPRC +PTPRK +PTPRO +PUM1 +QKI +RABEP1 +RAD52 +RAD54L +RALGDS +RANBP2 +RAP1GDS1 +RARA +RASGEF1A +RELN +RHOH +RMI2 +RNF213 +RNF217-AS1 +RPL10 +RPL22 +RPL5 +RPN1 +RPS6KB1 +RSPO2 +RSPO3 +RUNX2 +RXRA +S1PR2 +SALL4 +SBDS +SDC4 +SEC31A +SEPTIN5 +SEPTIN6 +SEPTIN9 +SERP2 +SERPINB4 +SETD1B +SETD3 +SETD4 +SETD5 +SETD6 +SETD7 +SFPQ +SFRP4 +SH3GL1 +SIX1 +SLC1A2 +SLC34A2 +SLC45A3 +SLIT2 +SMARCA1 +SMARCD1 +SNCAIP +SND1 +SNX29 +SOCS2 +SOX10 +SPTA1 +SRSF2 +SRSF3 +SS18L1 +SSX1 +SSX2 +SSX4 +STAT1 +STAT2 +STAT4 +STIL +STK40 +STRN +TAF1 +TAF15 +TAL2 +TAP1 +TAP2 +TCEA1 +TCF12 +TEC +TEK +TERC +TFEB +TFG +TFPT +TFRC +TIPARP +TLE1 +TLE2 +TLE3 +TLE4 +TLL2 +TMEM30A +TMPRSS2 +TMSB4XP8 +TNFRSF11A +TNFRSF17 +TOP2A +TPM3 +TPM4 +TPR +TRAF2 +TRAF7 +TRIM24 +TRIM33 +TRIP11 +TRRAP +TTL +TUSC3 +TYRO3 +U2AF2 +UPF1 +USP6 +VTCN1 +WAS +WDCP +WDR90 +WRN +XPA +XPC +YPEL5 +YWHAE +YY1AP1 +ZBTB16 +ZBTB2 +ZBTB7A +ZMYM2 +ZMYM3 +ZNF217 +ZNF24 +ZNF331 +ZNF384 +ZNF521 +ZNF703 +ZRSR2 diff --git a/data_2.py b/data_2.py new file mode 100644 index 0000000..721a65b --- /dev/null +++ b/data_2.py @@ -0,0 +1,174 @@ +"""_summary_ + matches: + Array of variant (diplayName and type) that MUST be matching, but not restricted to + does_not_matches: + Array of variant (diplayName and type) that MUST NOT be matching, but not restricted to +""" + +KBDEV_1024 = { + "TSC2:c.3365G>C": { + "matches": { + "displayName": [""], + "type": [""], + }, + "does_not_matches": { + "displayName": [""], + "type": [""], + }, + }, +} + +KBDEV_1044 = { + "TSC2:c.4700G>A": { + "matches": { + "displayName": [ + "ENST00000219476:c.4700G>A", + "ENST00000219476:r.4810G>A", + "TSC2 mutation", + "TSC2:p.G1567D", + "chr16:g.2086230G>A", + ], + "type": [ + "missense mutation", + "mutation", + "substitution", + ], + }, + "does_not_matches": { + "displayName": [ + "TSC2 nonsense", + ], + "type": [ + "nonsense", + ], + }, + }, +} + + + +OTHERS = { + "KRAS:p.G12D": { + "matches": { + "displayName": [ + "ENST00000256078:r.225_226delinsAC", + "ENST00000311936.7:c.35G>A", + "KRAS mutation", + "KRAS:c.35G>A", + "KRAS:p.(G12_G13)mut", + "KRAS:p.?12mut", + "KRAS:p.G12", + "KRAS:p.G12D", + "KRAS:p.G12X", + "KRAS:p.G12mut", + ], + "type": [ + "indel", + "missense", + "missense mutation", + "mutation", + "substitution", + ], + }, + "does_not_matches": { + "displayName": [ + "chr12:g.25245349_25245351delinsGCT", + "cosm516", + "ensp00000452512:p.G12V", + ], + "type": [ + "nonsense", + ], + }, + }, +} + +GERO_299 = { + "TP53:p.M237I": { + "matches": { + "displayName": [ + "ENST00000269305:r.901G>T", + "TP53 missense", + "TP53 mutation", + "TP53:p.M237I", + "TP53:p.M237X", + "chr17:g.7577570C>T", + ], + "type": [ + "missense", + "missense mutation", + "mutation", + "substitution", + ], + }, + "does_not_matches": { + "displayName": [ + "TP53 nonsense", + ], + "type": [ + "nonsense", + ], + }, + }, +} + + +# Testing combinations +x = dict( + **KBDEV_1024, + **KBDEV_1044, +) + +######################## +## KBDEV-1038 +######################## +# "FGFR4:p.N535K", +# "EGFR:p.D942N", +######################## +## KBDEV-1052 +######################## +# "EGFR:c.28246G>A", +# "chr7:g.55198839G>A", +# "EGFR:p.D942N", +# '(PCM1,JAK2):fusion(r.6280,r.1821)', # dummy test for Infers edges +######################## +## KBDEV-1054 +######################## +# "ERBB2:p.R814C", +######################## +## KBDEV-1056 +######################## +"FGFR3:c.1212dupC", +"FGFR3:c.1212dupACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGT", +"FGFR3:c.1212_1213insC", +"FGFR3:c.1212C>A", +"chr1:g.33344590_33344592del", +"FGFR3:g.5000_5001del", +"FGFR3:g.5000_5100del", +"FGFR3:c.9002_9050delinsTTT", +"FGFR3:c.9002_9051delinsTTT", +######################## +## GERO-299 +######################## +# "chr17:g.7674252C>T", +# "ENST00000269305:c.711G>A", +# "TP53:p.M237I", +######################## +## KBDEV-1024 +######################## +# "TSC2:c.3365G>C", +# "NM_000548.5:c.3365G>A", +# "NM_000548.5:p.Arg1122His", +# "TSC2: p.R112H", +######################## +## KBDEV-1044 +######################## +# "TSC2:c.4700G>A", +######################## +## OTHER Ex. +######################## +# "ENST00000219476:c.4700_4701delinsAT", +# "NM_000548.5:c.3365G>A", +# "TSC2:p.R112H", +# "TSC2:p.G1567D", +# "KRAS:p.G12D", diff --git a/data_3.json b/data_3.json new file mode 100644 index 0000000..47de5fe --- /dev/null +++ b/data_3.json @@ -0,0 +1,161 @@ +{ + "TSC2:c.3365G>C": { + "comment": "KBDEV-1024", + "matches": { + "displayName": [ + "" + ], + "type": [ + "" + ] + }, + "does_not_matches":{ + "displayName": [ + "" + ], + "type": [ + "" + ] + } + }, + "TSC2:c.4700G>A": { + "comment": "", + "matches": { + "displayName": [ + "ENST00000219476:c.4700G>A", + "ENST00000219476:r.4810G>A", + "TSC2 mutation", + "TSC2:p.G1567D", + "chr16:g.2086230G>A" + ], + "type": [ + "missense mutation", + "mutation", + "substitution" + ] + }, + "does_not_matches":{ + "displayName": [ + "TSC2 nonsense" + ], + "type": [ + "nonsense" + ] + } + }, + "KRAS:p.G12D": { + "comment": "", + "matches": { + "displayName": [ + "ENST00000256078:r.225_226delinsAC", + "ENST00000311936.7:c.35G>A", + "KRAS mutation", + "KRAS:c.35G>A", + "KRAS:p.(G12_G13)mut", + "KRAS:p.?12mut", + "KRAS:p.G12", + "KRAS:p.G12D", + "KRAS:p.G12X", + "KRAS:p.G12mut" + ], + "type": [ + "indel", + "missense", + "missense mutation", + "mutation", + "substitution" + ] + }, + "does_not_matches":{ + "displayName": [ + "chr12:g.25245349_25245351delinsGCT", + "cosm516", + "ensp00000452512:p.G12V" + ], + "type": [ + "nonsense" + ] + } + }, + "TP53:p.M237I": { + "comment": "GERO-299", + "matches": { + "displayName": [ + "ENST00000269305:r.901G>T", + "TP53 missense", + "TP53 mutation", + "TP53:p.M237I", + "TP53:p.M237X", + "chr17:g.7577570C>T" + ], + "type": [ + "missense", + "missense mutation", + "mutation", + "substitution" + ] + }, + "does_not_matches":{ + "displayName": [ + "TP53 nonsense" + ], + "type": [ + "nonsense" + ] + } + } +} + +######################## +## KBDEV-1038 +######################## +# "FGFR4:p.N535K", +# "EGFR:p.D942N", +######################## +## KBDEV-1052 +######################## +# "EGFR:c.28246G>A", +# "chr7:g.55198839G>A", +# "EGFR:p.D942N", +# '(PCM1,JAK2):fusion(r.6280,r.1821)', # dummy test for Infers edges +######################## +## KBDEV-1054 +######################## +# "ERBB2:p.R814C", +######################## +## KBDEV-1056 +######################## +"ENST00000340107:c.1212dupC", +"ENST00000340107:c.1212dupACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGT", +"ENST00000340107:c.1212_1213insC", +"ENST00000340107:c.1212C>A", +"chr1:g.33344590_33344592del", +"FGFR3:g.5000_5001del", +"FGFR3:g.5000_5100del", +"ENST00000340107:c.9002_9050delinsTTT", +"ENST00000340107:c.9002_9051delinsTTT", +######################## +## GERO-299 +######################## +# "chr17:g.7674252C>T", +# "ENST00000269305:c.711G>A", +# "TP53:p.M237I", +######################## +## KBDEV-1024 +######################## +# "TSC2:c.3365G>C", +# "NM_000548.5:c.3365G>A", +# "NM_000548.5:p.Arg1122His", +# "TSC2: p.R112H", +######################## +## KBDEV-1044 +######################## +# "TSC2:c.4700G>A", +######################## +## OTHER Ex. +######################## +# "ENST00000219476:c.4700_4701delinsAT", +# "NM_000548.5:c.3365G>A", +# "TSC2:p.R112H", +# "TSC2:p.G1567D", +# "KRAS:p.G12D", diff --git a/displayStatement.js b/displayStatement.js new file mode 100644 index 0000000..2edd9f6 --- /dev/null +++ b/displayStatement.js @@ -0,0 +1,24 @@ +const { schema, sentenceTemplates } = require('@bcgsc-pori/graphkb-schema'); + +const previewFunction = (obj) => schema.getPreview(obj); + +// const statement = { +// displayName: 'displayName', +// '@class': 'Statement', +// '@rid': '22:0', +// displayNameTemplate: 'Given {conditions} {relevance} applies to {subject} ({evidence})', +// relevance: { displayName: 'Mood Swings', '@rid': '1' }, +// conditions: [{ displayName: 'Low blood sugar', '@class': 'Disease', '@rid': '2' }], +// subject: { displayName: 'hungertitis', '@rid': '3', '@class': 'Disease' }, +// evidence: [{ displayName: 'A reputable source', '@rid': '4' }], +// }; + +console.log('################################') +console.log(process.argv[2]) +const statement = JSON.parse(process.argv[2]) + +const { content } = sentenceTemplates.generateStatementSentence(previewFunction, statement); +// Given Low blood sugar Mood Swings applies to hungertitis (A reputable source) + +statementLabel = schema.getPreview(content); +console.log(statementLabel) \ No newline at end of file diff --git a/genes.txt b/genes.txt new file mode 100644 index 0000000..165eee8 --- /dev/null +++ b/genes.txt @@ -0,0 +1,56 @@ +AKT1 +APC +ATM +AXIN2 +BAP1 +BLM +BMPR1A +BRCA1 +BRCA2 +BRIP1 +CBL +CDH1 +CDK4 +CDKN2A +CHEK2 +DICER1 +EGFR +EPCAM +ETV6 +EZH2 +FH +FLCN +GATA2 +HRAS +KIT +MEN1 +MET +MLH1 +MSH2 +MSH6 +MUTYH +NBN +NF1 +PALB2 +PDGFRA +PMS2 +PTCH1 +PTEN +PTPN11 +RAD51C +RAD51D +RB1 +RET +RUNX1 +SDHA +SDHB +SDHC +SDHD +SMAD4 +SMARCA4 +STK11 +TP53 +TSC1 +TSC2 +VHL +WT1 diff --git a/graphkb/match.py b/graphkb/match.py index eea1b1b..46f5a62 100644 --- a/graphkb/match.py +++ b/graphkb/match.py @@ -532,7 +532,7 @@ def structural_type_adjustment( return variant_types_details -def category_variant_similarTo( +def category_variant_extension( conn: GraphKBConnection, features: List[str], variant_types_details: Iterable[Record], @@ -575,6 +575,7 @@ def category_variant_similarTo( {"reference2": secondary_features}, ] }, + "returnProperties": VARIANT_RETURN_PROPERTIES, }, ignore_cache=ignore_cache, ) @@ -833,7 +834,7 @@ def match_positional_variant( # e.g. "BRAF:c...del" MATCHING "BRAF deletion" # e.g. "(BRAF,AKAP9):fusion(...)" MATCHING "BRAF and AKAP9 fusion" matches.extend( - category_variant_similarTo( + category_variant_extension( conn, features, variant_types_details, @@ -847,7 +848,7 @@ def match_positional_variant( # a) matching on inverted reference1 and reference2 # e.g. "(BRAF,AKAP9):fusion(...)" MATCHING "AKAP9 and BRAF fusion" matches.extend( - category_variant_similarTo( + category_variant_extension( conn, features = secondary_features, variant_types_details = variant_types_details, @@ -858,7 +859,7 @@ def match_positional_variant( # b) matching on reference1 = primary features, without reference2 # e.g. "(BRAF,AKAP9):fusion(...)" MATCHING "BRAF fusion" matches.extend( - category_variant_similarTo( + category_variant_extension( conn, features, variant_types_details, @@ -869,7 +870,7 @@ def match_positional_variant( # c) matching on reference1 = secondary features, without reference2 # e.g. "(BRAF,AKAP9):fusion(...)" MATCHING "AKAP9 fusion" matches.extend( - category_variant_similarTo( + category_variant_extension( conn, features = secondary_features, variant_types_details = variant_types_details, diff --git a/output.txt b/output.txt new file mode 100644 index 0000000..c38b538 --- /dev/null +++ b/output.txt @@ -0,0 +1,1309 @@ +797 VS 492 & None + ->False +797 VS 289 & None + ->False +797 VS 491 & None + ->False +797 VS 861 & None + ->False +797 VS 546 & None + ->False +797 VS 733 & None + ->False +797 VS 719 & None + ->False +797 VS 464 & None + ->False +797 VS 467 & None + ->False +797 VS 746 & None + ->False +797 VS 747 & None + ->False +797 VS 734 & None + ->False +797 VS 797 & None + ->True +797 VS 761 & None + ->False +797 VS 289 & None + ->False +797 VS 796 & None + ->False +797 VS 797 & None + ->True +797 VS 858 & None + ->False +797 VS 289 & None + ->False +797 VS 810 & None + ->False +797 VS 598 & None + ->False +797 VS 465 & None + ->False +797 VS 720 & None + ->False +797 VS 719 & None + ->False +797 VS 724 & None + ->False +797 VS 792 & None + ->False +797 VS 690 & None + ->False +797 VS 742 & None + ->False +797 VS 750 & None + ->False +797 VS 718 & None + ->False +797 VS 768 & None + ->False +797 VS 796 & None + ->False +797 VS 752 & None + ->False +797 VS 773 & None + ->False +797 VS 746 & None + ->False +797 VS 108 & None + ->False +797 VS 861 & None + ->False +797 VS 263 & None + ->False +797 VS 843 & None + ->False +797 VS 289 & None + ->False +797 VS 289 & None + ->False +797 VS 598 & None + ->False +797 VS 731 & None + ->False +797 VS 749 & None + ->False +797 VS 790 & None + ->False +797 VS 108 & None + ->False +797 VS 451 & None + ->False +797 VS 719 & None + ->False +797 VS 735 & None + ->False +797 VS 753 & None + ->False +797 VS 810 & None + ->False +797 VS 861 & None + ->False +797 VS 796 & None + ->False +797 VS 798 & None + ->False +797 VS 492 & None + ->False +797 VS 719 & None + ->False +797 VS 745 & None + ->False +797 VS 761 & None + ->False +797 VS 858 & None + ->False +797 VS 792 & None + ->False +797 VS 858 & None + ->False +797 VS 757 & None + ->False +797 VS 747 & None + ->False +797 VS 289 & None + ->False +797 VS 848 & None + ->False +797 VS 833 & None + ->False +797 VS 790 & None + ->False +797 VS 222 & None + ->False +797 VS 747 & None + ->False +797 VS 863 & None + ->False +797 VS 790 & None + ->False +797 VS 790 & None + ->False +797 VS 761 & None + ->False +797 VS 790 & None + ->False +797 VS 108 & None + ->False +797 VS 863 & None + ->False +797 VS 848 & None + ->False +797 VS 790 & None + ->False +797 VS 598 & None + ->False +797 VS 790 & None + ->False +797 VS 854 & None + ->False +797 VS 848 & None + ->False +797 VS 761 & None + ->False +797 VS 677 & None + ->False +797 VS 768 & None + ->False +797 VS 751 & None + ->False +797 VS 252 & None + ->False +797 VS 720 & None + ->False +797 VS 252 & None + ->False +797 VS 858 & None + ->False +797 VS 222 & None + ->False +797 VS 848 & None + ->False +797 VS 222 & None + ->False +797 VS 863 & None + ->False +797 VS 252 & None + ->False +797 VS 858 & None + ->False +797 VS 776 & None + ->False +797 VS 719 & None + ->False +797 VS 289 & None + ->False +797 VS 854 & None + ->False +797 VS 858 & None + ->False +797 VS 861 & None + ->False +797 VS 720 & None + ->False +797 VS 768 & None + ->False +797 VS 252 & None + ->False +797 VS 776 & None + ->False +797 VS 709 & None + ->False +797 VS 252 & None + ->False +797 VS 709 & None + ->False +797 VS 289 & None + ->False +797 VS 719 & None + ->False +797 VS 598 & None + ->False +797 VS 776 & None + ->False +797 VS 598 & None + ->False +797 VS 747 & None + ->False +797 VS 776 & None + ->False +797 VS 761 & None + ->False +797 VS 222 & None + ->False +797 VS 641 & None + ->False +797 VS 858 & None + ->False +797 VS 751 & None + ->False +797 VS 854 & None + ->False +797 VS 289 & None + ->False +797 VS 222 & None + ->False +797 VS 751 & None + ->False +797 VS 252 & None + ->False +797 VS 847 & None + ->False +797 VS 751 & None + ->False +797 VS 719 & None + ->False +797 VS 719 & None + ->False +797 VS 747 & None + ->False +797 VS 709 & None + ->False +797 VS 222 & None + ->False +797 VS 858 & None + ->False +797 VS 761 & None + ->False +797 VS 833 & None + ->False +797 VS 848 & None + ->False +797 VS 861 & None + ->False +797 VS 289 & None + ->False +797 VS 252 & None + ->False +797 VS 790 & None + ->False +797 VS 847 & None + ->False +797 VS 790 & None + ->False +797 VS 768 & None + ->False +797 VS 776 & None + ->False +797 VS 833 & None + ->False +797 VS 861 & None + ->False +797 VS 677 & None + ->False +797 VS 720 & None + ->False +797 VS 863 & None + ->False +797 VS 709 & None + ->False +797 VS 252 & None + ->False +797 VS 863 & None + ->False +797 VS 833 & None + ->False +797 VS 747 & None + ->False +797 VS 848 & None + ->False +797 VS 751 & None + ->False +797 VS 861 & None + ->False +797 VS 847 & None + ->False +797 VS 835 & None + ->False +797 VS 222 & None + ->False +797 VS 858 & None 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See https://v8.dev/blog/math-random for details.", + "bin": { + "uuid": "bin/uuid" + } + }, + "node_modules/uuid-validate": { + "version": "0.0.3", + "resolved": "https://registry.npmjs.org/uuid-validate/-/uuid-validate-0.0.3.tgz", + "integrity": "sha512-Fykw5U4eZESbq739BeLvEBFRuJODfrlmjx5eJux7W817LjRaq4b7/i4t2zxQmhcX+fAj4nMfRdTzO4tmwLKn0w==" + }, + "node_modules/validator": { + "version": "13.11.0", + "resolved": "https://registry.npmjs.org/validator/-/validator-13.11.0.tgz", + "integrity": "sha512-Ii+sehpSfZy+At5nPdnyMhx78fEoPDkR2XW/zimHEL3MyGJQOCQ7WeP20jPYRz7ZCpcKLB21NxuXHF3bxjStBQ==", + "engines": { + "node": ">= 0.10" + } + } + }, + "dependencies": { + "@bcgsc-pori/graphkb-parser": { + "version": "2.1.0", + "resolved": "https://registry.npmjs.org/@bcgsc-pori/graphkb-parser/-/graphkb-parser-2.1.0.tgz", + "integrity": "sha512-EIVRjRdqJv7RjtvZ+wK3qQDLORPAuKoqFkGUg/pHU3JnpgQMXgeOEHBfuwh6U+P09oY1TQdspS7+vUjpINapBg==", + "peer": true, + "requires": { + "json-cycle": "^1.3.0" + } + }, + "@bcgsc-pori/graphkb-schema": { + "version": "4.0.0", + "resolved": "https://registry.npmjs.org/@bcgsc-pori/graphkb-schema/-/graphkb-schema-4.0.0.tgz", + "integrity": "sha512-RrlUYPY/5PyB/HI854rsG2W2DRRVqfg233zgftIEZlKPDpefizrjOROpoMvb/r4usrGQ2blXvRL8FKlvLEpL7g==", + "requires": { + "lodash.omit": "4.5.0", + "typescript": "^4.5.5", + "uuid": "3.3.2", + "uuid-validate": "0.0.3", + "validator": "^13.7.0" + } + }, + "json-cycle": { + "version": "1.5.0", + "resolved": "https://registry.npmjs.org/json-cycle/-/json-cycle-1.5.0.tgz", + "integrity": "sha512-GOehvd5PO2FeZ5T4c+RxobeT5a1PiGpF4u9/3+UvrMU4bhnVqzJY7hm39wg8PDCqkU91fWGH8qjWR4bn+wgq9w==", + "peer": true + }, + "lodash.omit": { + "version": "4.5.0", + "resolved": "https://registry.npmjs.org/lodash.omit/-/lodash.omit-4.5.0.tgz", + "integrity": "sha512-XeqSp49hNGmlkj2EJlfrQFIzQ6lXdNro9sddtQzcJY8QaoC2GO0DT7xaIokHeyM+mIT0mPMlPvkYzg2xCuHdZg==" + }, + "typescript": { + "version": "4.9.5", + "resolved": "https://registry.npmjs.org/typescript/-/typescript-4.9.5.tgz", + "integrity": "sha512-1FXk9E2Hm+QzZQ7z+McJiHL4NW1F2EzMu9Nq9i3zAaGqibafqYwCVU6WyWAuyQRRzOlxou8xZSyXLEN8oKj24g==" + }, + "uuid": { + "version": "3.3.2", + "resolved": "https://registry.npmjs.org/uuid/-/uuid-3.3.2.tgz", + "integrity": "sha512-yXJmeNaw3DnnKAOKJE51sL/ZaYfWJRl1pK9dr19YFCu0ObS231AB1/LbqTKRAQ5kw8A90rA6fr4riOUpTZvQZA==" + }, + "uuid-validate": { + "version": "0.0.3", + "resolved": "https://registry.npmjs.org/uuid-validate/-/uuid-validate-0.0.3.tgz", + "integrity": "sha512-Fykw5U4eZESbq739BeLvEBFRuJODfrlmjx5eJux7W817LjRaq4b7/i4t2zxQmhcX+fAj4nMfRdTzO4tmwLKn0w==" + }, + "validator": { + "version": "13.11.0", + "resolved": "https://registry.npmjs.org/validator/-/validator-13.11.0.tgz", + "integrity": "sha512-Ii+sehpSfZy+At5nPdnyMhx78fEoPDkR2XW/zimHEL3MyGJQOCQ7WeP20jPYRz7ZCpcKLB21NxuXHF3bxjStBQ==" + } + } +} diff --git a/package.json b/package.json new file mode 100644 index 0000000..b8b0e5f --- /dev/null +++ b/package.json @@ -0,0 +1,26 @@ +{ + "name": "pori_graphkb_python", + "version": "1.0.0", + "description": "![build](https://github.com/bcgsc/pori_graphkb_python/workflows/build/badge.svg) [![PyPi](https://img.shields.io/pypi/v/graphkb.svg)](https://pypi.org/project/graphkb) [![codecov](https://codecov.io/gh/bcgsc/pori_graphkb_python/branch/master/graph/badge.svg)](https://codecov.io/gh/bcgsc/pori_graphkb_python) [![PyPI - Downloads](https://img.shields.io/pypi/dm/graphkb)](https://pypistats.org/packages/graphkb) [![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.5730523.svg)](https://doi.org/10.5281/zenodo.5730523)", + "main": "displayStatement.js", + "directories": { + "doc": "docs", + "test": "tests" + }, + "scripts": { + "test": "echo \"Error: no test specified\" && exit 1" + }, + "repository": { + "type": "git", + "url": "git+https://github.com/bcgsc/pori_graphkb_python.git" + }, + "author": "", + "license": "ISC", + "bugs": { + "url": "https://github.com/bcgsc/pori_graphkb_python/issues" + }, + "homepage": "https://github.com/bcgsc/pori_graphkb_python#readme", + "dependencies": { + "@bcgsc-pori/graphkb-schema": "^4.0.0" + } +} diff --git a/pip-wheel-metadata/graphkb.dist-info/LICENSE b/pip-wheel-metadata/graphkb.dist-info/LICENSE new file mode 100644 index 0000000..f288702 --- /dev/null +++ b/pip-wheel-metadata/graphkb.dist-info/LICENSE @@ -0,0 +1,674 @@ + GNU GENERAL PUBLIC LICENSE + Version 3, 29 June 2007 + + Copyright (C) 2007 Free Software Foundation, Inc. + Everyone is permitted to copy and distribute verbatim copies + of this license document, but changing it is not allowed. + + Preamble + + The GNU General Public License is a free, copyleft license for +software and other kinds of works. + + The licenses for most software and other practical works are designed +to take away your freedom to share and change the works. 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But first, please read +. diff --git a/pip-wheel-metadata/graphkb.dist-info/METADATA b/pip-wheel-metadata/graphkb.dist-info/METADATA new file mode 100644 index 0000000..7990feb --- /dev/null +++ b/pip-wheel-metadata/graphkb.dist-info/METADATA @@ -0,0 +1,111 @@ +Metadata-Version: 2.1 +Name: graphkb +Version: 1.13.0 +Summary: python adapter for interacting with the GraphKB API +Home-page: https://github.com/bcgsc/pori_graphkb_python +Author-email: graphkb@bcgsc.ca +License: UNKNOWN +Platform: UNKNOWN +Requires-Python: >=3.6 +Description-Content-Type: text/markdown +Requires-Dist: requests (<2.29.0) +Requires-Dist: typing-extensions (<4.4,>=3.7.4.2) +Provides-Extra: deploy +Requires-Dist: twine ; extra == 'deploy' +Requires-Dist: wheel ; extra == 'deploy' +Provides-Extra: dev +Requires-Dist: twine ; extra == 'dev' +Requires-Dist: wheel ; extra == 'dev' +Requires-Dist: pytest ; extra == 'dev' +Requires-Dist: pytest-runner ; extra == 'dev' +Requires-Dist: pytest-cov ; extra == 'dev' +Requires-Dist: mkdocs ; extra == 'dev' +Requires-Dist: markdown-refdocs ; extra == 'dev' +Requires-Dist: mkdocs-material ; extra == 'dev' +Requires-Dist: mkdocs-redirects ; extra == 'dev' +Requires-Dist: black ; extra == 'dev' +Requires-Dist: flake8 ; extra == 'dev' +Requires-Dist: flake8-annotations ; extra == 'dev' +Requires-Dist: isort ; extra == 'dev' +Requires-Dist: mypy ; extra == 'dev' +Provides-Extra: doc +Requires-Dist: mkdocs ; extra == 'doc' +Requires-Dist: markdown-refdocs ; extra == 'doc' +Requires-Dist: mkdocs-material ; extra == 'doc' +Requires-Dist: mkdocs-redirects ; extra == 'doc' +Provides-Extra: test +Requires-Dist: pytest ; extra == 'test' +Requires-Dist: pytest-runner ; extra == 'test' +Requires-Dist: pytest-cov ; extra == 'test' + + +# GraphKB (Python) + +![build](https://github.com/bcgsc/pori_graphkb_python/workflows/build/badge.svg) [![PyPi](https://img.shields.io/pypi/v/graphkb.svg)](https://pypi.org/project/graphkb) [![codecov](https://codecov.io/gh/bcgsc/pori_graphkb_python/branch/master/graph/badge.svg)](https://codecov.io/gh/bcgsc/pori_graphkb_python) [![PyPI - Downloads](https://img.shields.io/pypi/dm/graphkb)](https://pypistats.org/packages/graphkb) [![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.5730523.svg)](https://doi.org/10.5281/zenodo.5730523) + +This repository is part of the [platform for oncogenomic reporting and interpretation](https://github.com/bcgsc/pori). + +Python adapter package for querying the GraphKB API. See the [user manual](https://bcgsc.github.io/pori/graphkb/scripting/) + +- [Getting Started](#getting-started) + - [Install (For developers)](#install-for-developers) + - [Run Tests](#run-tests) +- [Generating the Documentation](#generating-the-documentation) +- [Deployment (Publishing)](#deployment-publishing) + +## Getting Started + +### Install (For developers) + +clone this repository + +```bash +git clone https://github.com/bcgsc/pori_graphkb_python +cd pori_graphkb_python +``` + +create a virtual environment + +```bash +python3 -m venv venv +source venv/bin/activate +``` + +install the package and its development dependencies + +```bash +pip install -U pip setuptools +pip install -e .[dev] +``` + +### Run Tests + +```bash +pytest tests +``` + +## Generating the Documentation + +User documentation for this repository is hosted in the [central PORI repository](https://github.com/bcgsc/pori/) + +## Deployment (Publishing) + +Install the deployment dependencies + +```bash +pip install .[deploy] +``` + +Build the distribution files + +```bash +python setup.py install sdist bdist_wheel +``` + +Upload the distibutions to the package server (`-r` is defined in your pypirc) + +```bash +twine upload -r bcgsc dist/* +``` + + diff --git a/pip-wheel-metadata/graphkb.dist-info/dependency_links.txt b/pip-wheel-metadata/graphkb.dist-info/dependency_links.txt new file mode 100644 index 0000000..fe51488 --- /dev/null +++ b/pip-wheel-metadata/graphkb.dist-info/dependency_links.txt @@ -0,0 +1 @@ +[] diff --git a/pip-wheel-metadata/graphkb.dist-info/top_level.txt b/pip-wheel-metadata/graphkb.dist-info/top_level.txt new file mode 100644 index 0000000..f49b9b0 --- /dev/null +++ b/pip-wheel-metadata/graphkb.dist-info/top_level.txt @@ -0,0 +1,2 @@ +graphkb +tests diff --git a/script_cancer_genes.py b/script_cancer_genes.py new file mode 100644 index 0000000..dff4511 --- /dev/null +++ b/script_cancer_genes.py @@ -0,0 +1,43 @@ +from graphkb.genes import _get_tumourigenesis_genes_list, get_cancer_genes, get_oncokb_oncogenes, get_oncokb_tumour_supressors +from graphkb.constants import TSO500_SOURCE_NAME, ONCOKB_SOURCE_NAME, CANCER_GENE + +from script_conn import connection + + +# CONNECTION +############################################################## +env = 'dev' # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + + +# oncogenic = get_oncokb_oncogenes(conn) +# print(f'\noncogenic genes:') +# print(len(oncogenic)) +# print(oncogenic[0]) + +# suppressor = get_oncokb_tumour_supressors(conn) +# print(f'\nsuppressor genes:') +# print(len(suppressor)) +# print(suppressor[0]) + +cancer_genes = get_cancer_genes(conn) +print(f'cancer genes ({len(cancer_genes)}) :') +# print(len(cancer_genes)) +geneList = [gene["displayName"] for gene in cancer_genes] +geneList.sort() +for gene in geneList: + print(gene) + + +# cancer_genes2 = _get_tumourigenesis_genes_list( +# conn, +# CANCER_GENE, +# [ +# ONCOKB_SOURCE_NAME, +# TSO500_SOURCE_NAME, +# ] +# ) +# print(f'\ncancer_genes2:') +# print(len(cancer_genes2)) +# print(cancer_genes2[0]) + diff --git a/script_conn.py b/script_conn.py new file mode 100644 index 0000000..c19dee6 --- /dev/null +++ b/script_conn.py @@ -0,0 +1,28 @@ +import os +from graphkb import GraphKBConnection + +GKB_USER = { + "local" : os.environ['USER'], + "dev" : os.environ['USER'], + # "staging" : 'graphkb_importer', + "staging" : os.environ['USER'], + "prod" : os.environ['USER'], +} +GKB_PASSWORD = { + "local" : os.environ['JIRA_PASS'], + "dev" : os.environ['JIRA_PASS'], + # "staging" : os.environ['GKB_PASS'], + "staging" : os.environ['JIRA_PASS'], + "prod" : os.environ['JIRA_PASS'], +} +GKB_API_URL = { + "local" : "http://mlemieux01.phage.bcgsc.ca:8080/api/", + "dev" : "https://graphkbdev-api.bcgsc.ca/api", + "staging" : "https://graphkbstaging-api.bcgsc.ca/api", + "prod" : "https://graphkb-api.bcgsc.ca/api", +} + +def connection(env): + conn = GraphKBConnection(GKB_API_URL[env], use_global_cache=False) + conn.login(GKB_USER[env], GKB_PASSWORD[env]) + return conn \ No newline at end of file diff --git a/script_data.py b/script_data.py new file mode 100644 index 0000000..d6093ff --- /dev/null +++ b/script_data.py @@ -0,0 +1,88 @@ +variant_strings = { + "GERO-299": [ + "chr17:g.7674252C>T", + "ENST00000269305:c.711G>A", + "TP53:p.M237I", + ], + "KBDEV-1024": [ + "TSC2:c.3365G>C", + "NM_000548.5:c.3365G>A", + "NM_000548.5:p.Arg1122His", + "TSC2: p.R112H", + ], + "KBDEV-1038": [ + "FGFR4:p.N535K", + "EGFR:p.D942N", + ], + "KBDEV-1044": [ + "TSC2:c.4700G>A", + ], + "KBDEV-1052": [ + "EGFR:c.28246G>A", + "chr7:g.55198839G>A", + "EGFR:p.D942N", + # dummy test for Infers edges + "(PCM1,JAK2):fusion(r.6280,r.1821)", + ], + "KBDEV-1054": [ + "ERBB2:p.R814C", + ], + "KBDEV-1056": [ + "FGFR3:c.1212dupC", + "FGFR3:c.1212dupACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGTACGT", + "FGFR3:c.1212_1213insC", + "FGFR3:c.1212C>A", + "chr1:g.33344590_33344592del", + "chr1:g.33344590_33344692del", + "FGFR3:g.5000_5001del", + "FGFR3:g.5000_5100del", + "FGFR3:c.9002_9050delinsTTT", + "FGFR3:c.9002_9051delinsTTT", + ], + "KBDEV-1066": [ + # "(TMPRSS2,ERG):fusion(r.150,r.312)", + "(FUS,CREB3L2):fusion(r.904,r.936)", + ], + "KBDEV-1133": [ + # "EGFR:p.C797S", + # "EGFR:c.2127A>T", + "EGFR:p.V30_R297del", + # "EGFR:p.E746_S752delinsI", + # "EGFR:p.E746_S752del", + # "VHL:p.T133Lfs*26", + # "(BRAF,AKAP9):fusion(e.8,e.9)", + # "(TFE3,PRCC):fusion(r.794,r.741)", + # "(CD74,ROS1):fusion(r.627,r.5841)", + # "VHL:p.V66Gfs*10", + # "VHL:p.V66Gfs*89", + # "VHL:p.Q96_P97delinsH", + # "VHL:p.Q96_P97delinsHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH", + # "VHL:c.483delA", + # "VHL:c.483delinsC", + + ], + "SDEV-3872": [ + # "(FGFR3,BRCA2):fusion(g.1234567,g.1234567)", + # "STK11:g.1_100del", + # "STK11:g.1_10del", + # "STK11:e.1_100del", + # "STK11:i.1_100del", + # "FGFR3:c.1200_1300dup", + # "NC_000002.12:g.233760247_233760248dup", + # "chr2:g.233760247_233760248dup", + # "UGT1A1:g.233760247_233760248dup", + # "NM_000548.5:c.3365G>A", + 'chr7:g.55181378C>T', + ], + "SDEV-3892": [ + "(ESR1,CCDC170):fusion(e.5,e.2)", + "(ESR1,CCDC170):fusion(e.2,e.6)", + ], + "other": [ + "ENST00000219476:c.4700_4701delinsAT", + "NM_000548.5:c.3365G>A", + "TSC2:p.R112H", + "TSC2:p.G1567D", + "KRAS:p.G12D", + ], +} diff --git a/script_features.py b/script_features.py new file mode 100644 index 0000000..a65e95d --- /dev/null +++ b/script_features.py @@ -0,0 +1,27 @@ +from graphkb.match import get_equivalent_features + +from script_conn import connection + + +def main(): + # CONNECTION + ############################################################## + env = 'dev' # 'local' | 'dev' | 'staging' | 'prod' + conn = connection(env) + + # DATA + ############################################################## + source_name = 'entrez gene' + gene_name = 'H3F3B' + + # PROCESSING + ############################################################## + features = get_equivalent_features(conn, gene_name) + + source_rid = conn.get_source(source_name)['@rid'] + features = [el for el in features if el['source'] == source_rid] + + if len(features) == 1: + return features[0] + +main() \ No newline at end of file diff --git a/script_genes_get_gene_info.py b/script_genes_get_gene_info.py new file mode 100644 index 0000000..a217b61 --- /dev/null +++ b/script_genes_get_gene_info.py @@ -0,0 +1,16 @@ +from graphkb.genes import get_gene_information +from script_conn import connection + +# CONNECTION +############################################################## +env = 'dev' # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + +# DATA +############################################################## +genes = ['BRCA2', 'ALB'] +info = get_gene_information(conn, genes) + +# LOGGING +############################################################## +print(info) diff --git a/script_genes_oncokb.py b/script_genes_oncokb.py new file mode 100644 index 0000000..c019dc5 --- /dev/null +++ b/script_genes_oncokb.py @@ -0,0 +1,21 @@ +from graphkb.genes import get_oncokb_oncogenes, get_oncokb_tumour_supressors + +from script_conn import connection + + +# CONNECTION +############################################################## +env = 'dev' # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + + +oncogenic = get_oncokb_oncogenes(conn) +print(f'oncogenic genes: {len(oncogenic)}') +print(oncogenic) +# for gene in oncogenic: +# print(gene['displayName']) + +suppressor = get_oncokb_tumour_supressors(conn) +print(f'suppressor genes: {len(suppressor)}') +# for gene in suppressor: +# print(gene['displayName']) diff --git a/script_genes_predispositions.py b/script_genes_predispositions.py new file mode 100644 index 0000000..ff00148 --- /dev/null +++ b/script_genes_predispositions.py @@ -0,0 +1,31 @@ +from graphkb.genes import get_cancer_predisposition_info, get_pharmacogenomic_info + +from script_conn import connection + + +# CONNECTION +############################################################## +env = 'dev' # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + +# get_cancer_predisposition_info +genes, variants = get_cancer_predisposition_info(conn) +print('\nget_cancer_predisposition_info', '\n#############################################') +print(f'\ngenes: {len(genes)}', '\n**************************') +with open("genes.txt", "w") as f: + for gene in genes: + print(gene, file=f) +print(f'\nvariants: {len(variants)}', '\n**************************') +with open("variants.tsv", "w") as f: + for k, v in variants.items(): + print(k, v, sep="\t", file=f) + +# # get_pharmacogenomic_info +# genes, variants = get_pharmacogenomic_info(conn) +# print('\nget_pharmacogenomic_info', '\n#############################################') +# print(f'\ngenes: {len(genes)}', '\n**************************') +# for gene in genes: +# print(gene) +# print(f'\nvariants: {len(variants)}', '\n**************************') +# for k, v in variants.items(): +# print(k, v) diff --git a/script_get_equivalent_features.py b/script_get_equivalent_features.py new file mode 100644 index 0000000..1ece6ae --- /dev/null +++ b/script_get_equivalent_features.py @@ -0,0 +1,38 @@ +from graphkb.match import get_equivalent_features +from script_conn import connection + +# CONNECTION +############################################################## +env = 'dev' # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + +# DATA +############################################################## +gene = 'BRCA2' +features = get_equivalent_features(conn, gene) + +# LOGGING +############################################################## +for feature in features: + print( + f'- {feature["@rid"]} - {feature["biotype"]} - {feature["displayName"]} - source: {feature["source"]}' + ) + +# # displayName list +# variant = [i['displayName'] for i in matches] +# variant = sorted(list(set(variant))) + +# print(f"\nvariant matches: {len(variant)}") +# for pv in variant: +# print(f'- {pv}') + +# # type list +# types = [i.get('type', {}).get('displayName', '') for i in matches] +# types = set(types) +# types.discard('') +# types = sorted(list(types)) + +# print(f"\ntype matches: {len(types)}:") +# for t in types: +# print(f'- {t}') +# print() diff --git a/script_match.py b/script_match.py new file mode 100644 index 0000000..1b938aa --- /dev/null +++ b/script_match.py @@ -0,0 +1,41 @@ +from graphkb import match +from script_conn import connection +from script_data import variant_strings + +# CONNECTION +############################################################## +env = "dev" # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + +# DATA +############################################################## +variant_string_list = variant_strings.get('KBDEV-1133', {}) # type filtering +# variant_string_list = variant_strings.get("KBDEV-1056", {}) # structural variant + + +for variant_string in variant_string_list: + print(f"{'='*50}\n{variant_string}") + + # # PARSING ONLY + # ############################################################## + # parsed = conn.parse(variant_string) + + # MATCHING + ############################################################## + matches = match.match_positional_variant( + conn, + variant_string, + # delinsSpecialHandling=False, + # updateTypeList=True, + ) + + variants = matches + # variants = [i["displayName"] for i in matches] + # variants = sorted(list(set(variants))) + + print(f"\nvariants matches: {len(variants)}") + for pv in variants: + print(f"\n- {pv}") + + # types = [i["type"] for i in matches] + # types = set() diff --git a/script_moa.py b/script_moa.py new file mode 100644 index 0000000..3fe9704 --- /dev/null +++ b/script_moa.py @@ -0,0 +1,26 @@ +import requests + +url = "https://moalmanac.org/api/assertions" +moa_lst = [ + 72, 292, 293, 429, 431, 430, 289, 537, 557, 566, 567, 306, 291, 576 +] + +def fnc1(assertion): + for feature in assertion['features']: + if feature['feature_type'] == 'somatic_variant': + return True + return False + +res = requests.get(url) +moa = res.json() + +moa_filtered = filter(lambda x: x['assertion_id'] in moa_lst, moa) +moa_filtered2 = filter(fnc1, moa) + +for i in moa_filtered: + assertion_id = i['assertion_id'] + feature_type = [j['feature_type'] for j in i['features']] + print(assertion_id, feature_type) + +for i in moa_filtered2: + print(i['assertion_id']) \ No newline at end of file diff --git a/script_package_metadata.py b/script_package_metadata.py new file mode 100644 index 0000000..bc10be4 --- /dev/null +++ b/script_package_metadata.py @@ -0,0 +1,28 @@ +import io +import json +import tarfile + +import requests + +# Define the package name and version +registry_url = "https://registry.npmjs.org" +package_scope = "@bcgsc-pori/" +package_name = "graphkb-parser" +package_version = "2.0.0" + +# Package's metadata +metadata_url = f"{registry_url}/{package_scope}{package_name}/{package_version}" +metadata_req = requests.get(metadata_url) + +# Package tarball +metadata = metadata_req.content.decode("utf-8") +tarfile_url = json.loads(metadata)['dist']['tarball'] +tarfile_req = requests.get(tarfile_url) + +# Extract tarball into memory +with tarfile.open(fileobj=io.BytesIO(tarfile_req.content), mode="r:gz") as tar: + for i in tar.getmembers(): + print(i) + # main_file = tar.extractfile(f"{package_name}-{package_version}/graphkb-parser.js") + # contents = main_file.read() + # print(contents) diff --git a/script_positions.py b/script_positions.py new file mode 100644 index 0000000..d96ff02 --- /dev/null +++ b/script_positions.py @@ -0,0 +1,43 @@ +from graphkb import match +from script_conn import connection + +# CONNECTION +############################################################## +env = 'dev' # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + +# DATA +############################################################## + + + + +for variant_string in variant_string_list: + print(f"{'='*50}\n{variant_string}") + + # # PARSING ONLY + # ############################################################## + # parsed = conn.parse(variant_string) + + # MATCHING + ############################################################## + matches = match.match_positional_variant(conn, variant_string) + + # displayName list + variant = [i['displayName'] for i in matches] + variant = sorted(list(set(variant))) + + print(f"\nvariant matches: {len(variant)}") + for pv in variant: + print(f'- {pv}') + + # # type list + # types = [i.get('type', {}).get('displayName', '') for i in matches] + # types = set(types) + # types.discard('') + # types = sorted(list(types)) + + # print(f"\ntype matches: {len(types)}:") + # for t in types: + # print(f'- {t}') + # print() diff --git a/script_query.py b/script_query.py new file mode 100644 index 0000000..a5d5d87 --- /dev/null +++ b/script_query.py @@ -0,0 +1,43 @@ +import os +from typing import Dict, Iterable, List, Set + +from graphkb import GraphKBConnection, constants, match, types, util, vocab + +# GKB_API_URL: str = 'https://graphkbdev-api.bcgsc.ca/api' # 'http://mlemieux01.phage.bcgsc.ca:8080/api/' # +GKB_USER: str = os.environ['USER'] +GKB_PASSWORD: str = os.environ['JIRA_PASS'] + +# conn = GraphKBConnection(GKB_API_URL, use_global_cache=False) +conn = GraphKBConnection() +conn.login(GKB_USER, GKB_PASSWORD) + +# gene_name: str = "TSC2" #"TP53" +# category: str = "small mutation" #"substitution" +# variant_string: str = "TSC2:c.3365G>C" +# variant_string: str = "TSC2:c.4700G>A" +variant_string: str = "KRAS:p.G12D" + +# # match_positional_variant() +# positional_variant: List[types.Variant] = match.match_positional_variant(conn, variant_string) +# # positional_variant = list(set(positional_variant)) +# # positional_variant = sorted(positional_variant, key=lambda d: d['displayName']) +# displayNames = [i['displayName'] for i in positional_variant] +# displayNames = sorted(list(set(displayNames))) +# print(f"\nmatches for positional variant {variant_string} ({len(displayNames)}):") +# for pv in displayNames: +# print(pv) + +query_filters = [ + {'reference1': ['#127:91609', '#128:64304', '#125:94839', '#127:3145', '#125:33712', '#127:64304', '#128:94838', '#126:3145', '#128:33711', '#126:64304', '#127:94838', '#125:3145', '#127:33711', '#125:64304', '#126:94838', '#128:3144', '#126:33711', '#127:11256', '#127:42139', '#127:103287', '#125:42140', '#126:103287', '#125:103287', '#126:11256', '#126:72410', '#128:11256', '#125:72410', '#128:72409', '#128:42139']}, + {'reference2': None}, + {'type': ['#145:43', '#145:66', '#145:31', '#145:23', '#145:53', '#148:18', '#145:67', '#148:37']}, + # {'break1Start.@class': 'ProteinPosition'} +] + +res = conn.query( + {'target': 'PositionalVariant', 'filters': query_filters} +), + +for i in res[0]: + print(i['displayName']) +print(len(res[0])) \ No newline at end of file diff --git a/script_statement.py b/script_statement.py new file mode 100644 index 0000000..e25211d --- /dev/null +++ b/script_statement.py @@ -0,0 +1,71 @@ +import subprocess, json + +from graphkb import match, statement + +from script_data import variant_strings +from script_conn import connection + + +# CONNECTION +############################################################## +env = 'prod' # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + +# DATASET +############################################################## +variant_string_list = variant_strings.get('SDEV-3892', {}) + +# MATCHING VARIANTS +variants = [] +############################################################## +for variant_string in variant_string_list: + print(f"{'='*50}\n{variant_string}") + + # matching variants + matches = match.match_positional_variant(conn, variant_string) + variants += matches + + # displayName list + variant = [f"{i['@rid']} {i['displayName']}" for i in matches] + variant = sorted(list(set(variant))) + + print(f"\nvariant matches: {len(variant)}") + for pv in variant: + print(f'- {pv}') + + # type list + types = [i.get('type', {}).get('displayName', '') for i in matches] + types = set(types) + types.discard('') + types = sorted(list(types)) + + print(f"\ntype matches: {len(types)}:") + for t in types: + print(f'- {t}') + print() + + + +# MATCHING STATEMENTS +############################################################## + +# variant_records = conn.query({}) + +statements = statement.get_statements_from_variants(conn, variants) +print(f"statements: {len(statements)}") +for i in statements: + print(i['@rid']) + +x = conn.query({"target":"Statement", "filters": {"conditions": ['#162:149'], "operator": "CONTAINSANY"},}) +print(f"matching #162:149: {len(x)}") +for i in x: print(i['@rid']) + +# statement template display +print(x[0]) +print('='*50) + +s = json.dumps(x[0]) +# s = str(x[0]) +p = subprocess.Popen(f"""node displayStatement.js '{s}'""", stdout=subprocess.PIPE, shell=True) +print('%'*50) +print(p.communicate()) \ No newline at end of file diff --git a/script_struct.py b/script_struct.py new file mode 100644 index 0000000..fc9d5a3 --- /dev/null +++ b/script_struct.py @@ -0,0 +1,31 @@ +import os + +from graphkb import GraphKBConnection, constants, match # , types, util, vocab +from graphkb.vocab import get_equivalent_terms, get_term_tree + +# # Production +# GKB_API_URL: str = 'https://graphkb-api.bcgsc.ca/api' +# GKB_USER: str = os.environ['USER'] +# GKB_PASSWORD: str = os.environ['JIRA_PASS'] + +# # Staging +# GKB_API_URL: str = 'https://graphkbstaging-api.bcgsc.ca/api' +# GKB_USER: str = 'graphkb_importer' +# GKB_PASSWORD: str = os.environ['GKB_PASS'] + +# Dev +GKB_API_URL: str = 'https://graphkbdev-api.bcgsc.ca/api' +GKB_USER: str = os.environ['USER'] +GKB_PASSWORD: str = os.environ['JIRA_PASS'] + +# # Local +# GKB_API_URL: str = 'http://mlemieux01.phage.bcgsc.ca:8080/api/' +# GKB_USER: str = os.environ['USER'] +# GKB_PASSWORD: str = os.environ['JIRA_PASS'] + +conn = GraphKBConnection(GKB_API_URL, use_global_cache=False) # conn = GraphKBConnection() +conn.login(GKB_USER, GKB_PASSWORD) + + +# +matches = match.type_screening(conn, {"type": "duplication"}, updateTypes=True) diff --git a/script_vocab.py b/script_vocab.py new file mode 100644 index 0000000..6833938 --- /dev/null +++ b/script_vocab.py @@ -0,0 +1,39 @@ +from graphkb.vocab import get_equivalent_terms, get_term_tree, get_terms_set +from script_conn import connection + +# CONNECTION +############################################################## +env = "dev" # 'local' | 'dev' | 'staging' | 'prod' +conn = connection(env) + +# term = "frameshift mutation" +term = "deletion" +print("term:", term) + +# # get_term_tree +# terms = get_term_tree(conn, term) +# print("\nget_terms_tree", "\n#############################################") +# print(f"\nterms: {len(terms)}", "\n**************************") +# for t in terms: +# print(t["@rid"], t["name"]) + +# get_equivalent_terms +terms2 = get_equivalent_terms(conn, term) +print("\nget_equivalent_terms", "\n#############################################") +print(f"\nterms: {len(terms2)}", "\n**************************") +for t in terms2: + print(t["@rid"], t["name"]) + +# # get_terms_set +# terms3 = get_terms_set(conn, [term]) +# print("\nget_terms_set", "\n#############################################") +# print(f"\nterms: {len(terms3)}", "\n**************************") +# for t in terms3: +# print(t) + +# # get_term_tree wo/ supercvlasses +# terms4 = get_term_tree(conn, [term], include_superclasses=False) +# print("\nget_term_tree wo superclasses", "\n#############################################") +# print(f"\nterms: {len(terms4)}", "\n**************************") +# for t in terms4: +# print(t["@rid"], t["name"]) diff --git a/variants.tsv b/variants.tsv new file mode 100644 index 0000000..ca0f292 --- /dev/null +++ b/variants.tsv @@ -0,0 +1,2807 @@ +#160:2712 AKT1:p.E17K +#159:3717 NM_000038.4:c.1247delA +#160:3716 NM_000038.4:c.1312+3A>G +#157:3745 NM_000038.4:c.1412delG +#160:3720 NM_000038.4:c.1467_1479delTAATGACCACTAC +#159:3725 APC:p.K534* +#159:3727 NM_000038.4:c.1657delT +#158:3738 NM_000038.4:c.1700delG +#159:3732 NM_000038.4:c.1776delA +#157:3759 NM_000038.4:c.1879_1882delAACA +#158:3745 NM_000038.4:c.207delA +#157:3763 NM_000038.4:c.2268_2274delACAAAAA +#159:627 APC:p.Q789* +#158:3752 NM_000038.4:c.2441_2442delinsG +#158:3754 APC:p.G839* +#158:3756 NM_000038.4:c.2544dupA +#159:1343 APC:p.R876* +#157:3777 NM_000038.4:c.2814dupT +#159:3755 NM_000038.4:c.2851delT +#157:3782 APC:p.E1020* +#159:3760 NM_000038.4:c.3148dupG +#160:3759 NM_000038.4:c.3328delT +#157:3789 NM_000038.4:c.3385_3386delTT +#158:3775 NM_000038.4:c.3471_3474delGAGA +#158:3777 NM_000038.4:c.3567dupA +#157:3795 NM_000038.4:c.3658_3659insT +#158:3780 NM_000038.4:c.3807_3809delinsTTTT +#159:3774 NM_000038.4:c.3875delC +#159:3776 NM_000038.4:c.3885delA +#158:3786 NM_000038.4:c.3910delA +#160:3777 APC:p.E1309* +#158:3791 APC:p.S1315* +#159:3785 NM_000038.4:c.4046_4059delinsT +#159:3787 NM_000038.4:c.4062_4066delTTCTT +#157:3814 APC:p.K1370* +#157:3816 NM_000038.4:c.4138_4160dupACCCCACTCATGTTTAGCAGATG +#159:3794 NM_000038.4:c.4199delC +#158:3804 NM_000038.4:c.4236_4239dupAATG +#158:3806 NM_000038.4:c.4264delG +#159:3800 NM_000038.4:c.429_432delGCTT +#160:3799 APC:p.E1451* +#160:3801 NM_000038.4:c.4394_4395insGG +#160:3803 NM_000038.4:c.4464_4473delATTACATTTT +#160:3805 APC:p.E1513* +#158:3150 APC:p.E1554* +#159:3812 NM_000038.4:c.4865delA +#157:3838 NM_000038.4:c.512_527delGTCTTCCTTTAACTGA +#160:3812 NM_000038.4:c.5826_5829delCAGA +#158:3826 APC:p.E225* +#158:3829 APC:p.G265* +#160:3820 NM_000038.4:c.896_897delCT +#157:3850 NM_000051.3:c.1564_1565delGA +#159:3827 NM_000051.3:c.2284_2285delCT +#160:3825 NM_000051.3:c.2897_2899delinsGCCAA +#157:3854 NM_000051.3:c.3802delG +#157:625 ATM:p.R1875* +#157:3857 NM_000051.3:c.5870_5871delAT +#160:3831 NM_000051.3:c.6976-2A>C +#158:3844 ATM:p.Q2593* +#159:3837 NM_000051.3:c.8030delAinsGTG +#157:3863 NM_000051.3:c.8395_8404delTTTCAGTGCC +#157:3864 NM_004656.2:c.73_98delAAGGGGGTGCAAGTGGAGGAGATCTA +#160:3838 NM_004329.2:c.367delG +#160:3840 NM_007294.3:c.1016dupA +#159:3845 BRCA1:p.E349* +#159:3847 NM_007294.3:c.1067delA +#159:3848 NM_007294.3:c.1086_1141delGAATCCTAGAGATACTGAAGATGTTCCTTGGATAACACTAAATAGCAGCATTCAGA +#157:3874 BRCA1:p.W372* +#157:3875 NM_007294.3:c.1127delA +#158:3860 NM_007294.3:c.117_118delTG +#160:3850 BRCA1:p.S405* +#158:3863 BRCA1:p.E418* +#157:1607 BRCA1:p.L431* +#158:3866 BRCA1:p.C44S +#159:3859 BRCA1:p.E445* +#159:3860 NM_007294.3:c.134+1G>T +#159:3861 NM_007294.3:c.135-1G>T +#157:3887 NM_007294.3:c.1360_1361delAG +#157:3888 NM_007294.3:c.1387delAinsGG +#159:3865 BRCA1:p.K467* +#157:3891 NM_007294.3:c.1439dupA +#157:3892 NM_007294.3:c.1444delA +#160:3866 BRCA1:p.Q494* +#158:3879 NM_007294.3:c.1504_1508delTTAAA +#158:3880 NM_007294.3:c.1510delC +#159:3873 NM_007294.3:c.1530delA +#160:3871 BRCA1:p.Q526* +#158:3884 BRCA1:p.Q538* +#160:3874 NM_007294.3:c.1638_1646delinsA +#157:3903 NM_007294.3:c.1713_1717delAGAAT +#158:3888 BRCA1:p.K583* +#159:3881 NM_007294.3:c.1772delT +#159:3883 NM_007294.3:c.179delA +#159:2735 BRCA1:p.C61G +#159:3886 NM_007294.3:c.1837delA +#158:3896 BRCA1:p.L63* +#159:3889 BRCA1:p.E638* +#158:3899 BRCA1:p.E649* +#158:3900 NM_007294.3:c.1959_1960delinsT +#159:3893 NM_007294.3:c.1961delA +#157:3919 BRCA1:p.K672* +#159:3896 BRCA1:p.K679* +#160:3894 NM_007294.3:c.2071delA +#157:3923 BRCA1:p.L702* +#158:3908 NM_007294.3:c.212+1G>C +#159:1143 BRCA1:p.R71K +#159:3902 NM_007294.3:c.213-3C>G +#157:2525 BRCA1:p.E720* +#160:3902 BRCA1:p.E730* +#157:3931 NM_007294.3:c.2202delA +#158:3916 NM_007294.3:c.2210_2211delCA +#159:3909 BRCA1:p.K739* +#159:3910 NM_007294.3:c.2253_2254delGT +#157:3936 BRCA1:p.Q759* +#158:3921 NM_007294.3:c.2299delA +#160:3911 NM_007294.3:c.2329delT +#158:3924 BRCA1:p.Q780* +#158:3925 NM_007294.3:c.2389_2390delGA +#159:3918 NM_007294.3:c.2402delG +#157:3944 BRCA1:p.Q804* +#159:3921 BRCA1:p.G813* +#159:3922 NM_007294.3:c.2468delG +#159:3923 NM_007294.3:c.2477delC +#159:3924 NM_007294.3:c.2515delC +#157:3950 BRCA1:p.Q855* +#159:3927 BRCA1:p.S868* +#160:3925 NM_007294.3:c.2617dupT +#158:3938 NM_007294.3:c.2646_2648delTGC +#158:3939 NM_007294.3:c.2679_2682delGAAA +#158:3940 NM_007294.3:c.269_281delTTTGTGCTTTTCA +#159:3933 NM_007294.3:c.2719_2722delGAAG +#160:3931 NM_007294.3:c.2726dupA +#160:3933 BRCA1:p.C91* +#159:3938 BRCA1:p.Q921* +#159:3939 NM_007294.3:c.2767_2770delGTTA +#160:3937 NM_007294.3:c.2806_2809delGATA +#158:3950 NM_007294.3:c.2834_2836delGTA +#159:3943 NM_007294.3:c.2866_2870delTCTCA +#160:3941 NM_007294.3:c.2887delA +#160:3942 NM_007294.3:c.2915delG +#158:3955 NM_007294.3:c.2934delT +#159:3948 NM_007294.3:c.2955delC +#160:3946 NM_007294.3:c.2995_2996delinsTA +#160:3947 NM_007294.3:c.3013delG +#157:3976 NM_007294.3:c.302-1G>T +#157:3977 NM_007294.3:c.302-3C>G +#159:3954 NM_007294.3:c.3048_3052dupTGAGA +#157:3980 BRCA1:p.E1033* +#158:3965 NM_007294.3:c.3158_3159insG +#159:3958 NM_007294.3:c.3188_3189delinsG +#159:3959 NM_007294.3:c.3214delC +#159:3960 NM_007294.3:c.32_33insC +#157:3986 NM_007294.3:c.3256_3257insGA +#157:3988 NM_007294.3:c.3286delC +#157:3989 NM_007294.3:c.3296delC +#160:3963 BRCA1:p.E1107* +#160:3964 NM_007294.3:c.3329_3330delAG +#157:3993 NM_007294.3:c.3333delA +#160:3967 NM_007294.3:c.3343delG +#160:3968 NM_007294.3:c.3362delA +#157:3997 NM_007294.3:c.3390delA +#160:3971 BRCA1:p.Q1135* +#157:4000 NM_007294.3:c.342_343delTC +#158:3985 NM_007294.3:c.3477_3479delinsC +#159:3978 BRCA1:p.Q12* +#160:3976 NM_007294.3:c.3549_3550delinsT +#160:3977 NM_007294.3:c.358delG +#159:3982 BRCA1:p.K1207* +#160:3980 BRCA1:p.E1214* +#157:4009 BRCA1:p.E1221* +#158:3994 NM_007294.3:c.3688_3733delTTATTTGGTAAAGTAAACAATATACCTTCTCAGTCTACTAGGCATA +#157:4012 NM_007294.3:c.3706_3707delAA +#158:3997 BRCA1:p.Q1240* +#159:3990 BRCA1:p.E1250* +#159:3991 NM_007294.3:c.3760_3761insT +#159:3992 NM_007294.3:c.3771_3772delGG +#157:4018 NM_007294.3:c.3782delT +#159:3995 NM_007294.3:c.3825_3826delAT +#160:3993 NM_007294.3:c.3856delA +#157:4022 BRCA1:p.K1290* +#159:3999 NM_007294.3:c.3901_3902delAG +#158:4009 BRCA1:p.R131* +#160:3999 BRCA1:p.K1322* +#157:4028 NM_007294.3:c.3973delA +#159:4005 NM_007294.3:c.4035delA +#157:4031 BRCA1:p.E1353* +#159:4008 BRCA1:p.L1365* +#159:4009 NM_007294.3:c.4110_4111delTG +#160:4007 BRCA1:p.E1373* +#157:4036 NM_007294.3:c.412_418delCTACAGA +#159:4013 NM_007294.3:c.4161_4162delTC +#159:4014 NM_007294.3:c.4167_4170delTGAC +#157:4040 BRCA1:p.Q1395= +#158:4025 NM_007294.3:c.4210delC +#160:4015 NM_007294.3:c.4242_4244delinsG +#158:4028 BRCA1:p.E143* +#157:4046 NM_007294.3:c.4331_4338delATCCAGAA +#158:4031 NM_007294.3:c.4357+1G>T +#160:4021 BRCA1:p.Q1458* +#158:4034 NM_007294.3:c.4391_4393delinsTT +#159:4027 NM_007294.3:c.4400_4418delinsTTT +#158:4037 NM_007294.3:c.4482_4483delAA +#160:4027 NM_007294.3:c.4485-1G>A +#159:4032 NM_007294.3:c.4516delG +#157:4058 NM_007294.3:c.456_457delCA +#157:4060 BRCA1:p.E1535* +#160:4034 BRCA1:p.E1540* +#158:4047 BRCA1:p.Y1552* +#160:4037 NM_007294.3:c.4675+3A>T +#158:4050 NM_007294.3:c.4676-2A>G +#160:4040 NM_007294.3:c.4712_4716delTCTCT +#160:4041 NM_007294.3:c.4764_4765delTC +#158:4054 NM_007294.3:c.485dupT +#160:4044 NM_007294.3:c.4941delC +#157:4073 NM_007294.3:c.4964_4982delCTGGCCTGACCCCAGAAGA +#158:4058 NM_007294.3:c.4986+3G>C +#158:4059 NM_007294.3:c.4986+6T>G +#160:4049 NM_007294.3:c.5026_5036delTTAACTAATCT +#160:4050 NM_007294.3:c.5040delT +#159:4055 NM_007294.3:c.5074+1G>T +#157:929 BRCA1:p.D1692H +#158:4066 NM_007294.3:c.5075-2A>C +#159:4059 NM_007294.3:c.5091_5092delTG +#158:4069 NM_007294.3:c.5106delA +#160:4059 NM_007294.3:c.5129delG +#160:4061 NM_007294.3:c.5145delC +#157:4090 NM_007294.3:c.5152+1G>A +#157:4091 NM_007294.3:c.5153-1G>A +#159:4068 NM_007294.3:c.5155delG +#157:4094 BRCA1:p.E1725* +#158:4079 NM_007294.3:c.5193+1G>A +#158:4080 NM_007294.3:c.5194-1G>A +#159:4073 NM_007294.3:c.5209_5248delinsTC +#158:4083 NM_007294.3:c.5229_5230delAA +#159:4076 NM_007294.3:c.5249dupA +#159:4078 BRCA1:p.E1754* +#160:4076 NM_007294.3:c.5277+1delG +#158:4089 NM_007294.3:c.5278-1G>A +#158:4090 NM_007294.3:c.5289delG +#159:4083 NM_007294.3:c.5310dupG +#160:4081 NM_007294.3:c.5332+1G>A +#157:4110 NM_007294.3:c.5335delC +#158:29 BRCA1:p.G1788V +#158:4097 NM_007294.3:c.5406+1G>A +#158:4098 NM_007294.3:c.5407-2A>G +#158:4099 NM_007294.3:c.5440delG +#157:4117 NM_007294.3:c.5467+2T>C +#157:4118 NM_007294.3:c.547+1G>A +#157:4119 NM_007294.3:c.5492delC +#158:700 BRCA1:p.R1835* +#157:4122 NM_007294.3:c.5521delA +#158:39 BRCA1:p.Y1853* +#160:4098 NM_007294.3:c.668delA +#160:4099 NM_007294.3:c.676delT +#157:4128 NM_007294.3:c.70_71insA +#157:4129 NM_007294.3:c.74_75delCC +#159:4106 NM_007294.3:c.791_794delGTTC +#160:4104 NM_007294.3:c.809delA +#157:4133 NM_007294.3:c.81-2A>T +#159:4110 NM_007294.3:c.835delC +#160:4108 BRCA1:p.L283* +#157:4137 NM_007294.3:c.895_896delGT +#157:4138 NM_007294.3:c.923delG +#159:2478 BRCA1:p.Q317* +#160:4113 NM_007294.3:c.964delG +#157:4142 BRCA2:p.E34* +#159:4119 BRCA2:p.S368* +#160:4117 BRCA2:p.K385* +#157:4146 NM_000059.3:c.1219delC +#157:4147 NM_000059.3:c.1257delT +#158:4132 NM_000059.3:c.128delA +#158:4133 NM_000059.3:c.1310_1313delAAGA +#157:4151 BRCA2:p.Q472* +#159:4128 NM_000059.3:c.1496_1497delAG +#160:4126 NM_000059.3:c.1547delT +#160:4127 NM_000059.3:c.1617delA +#159:680 BRCA2:p.G561* +#159:4133 NM_000059.3:c.1733delG +#160:4131 NM_000059.3:c.1773_1776delTTAT +#159:4136 NM_000059.3:c.1813delA +#158:4146 NM_000059.3:c.1831delT +#160:4136 BRCA2:p.Q619* +#157:4165 NM_000059.3:c.1929delG +#160:4139 NM_000059.3:c.2036delA +#158:4152 BRCA2:p.Y688* +#158:4153 NM_000059.3:c.2094delA +#158:1560 BRCA2:p.S76* +#158:4156 BRCA2:p.S791* +#159:4150 NM_000059.3:c.2435delA +#159:4151 NM_000059.3:c.2471_2476delTAAATG +#159:4153 BRCA2:p.S846* +#159:4154 NM_000059.3:c.2588dupA +#158:4164 NM_000059.3:c.262_263delCT +#158:4165 NM_000059.3:c.2653_2656delGACA +#158:4166 NM_000059.3:c.2731delG +#159:4159 NM_000059.3:c.2798_2799delCA +#159:4160 NM_000059.3:c.2810_2811delAA +#157:4186 NM_000059.3:c.2832_2833insTT +#158:4171 BRCA2:p.Q961* +#158:4172 NM_000059.3:c.2957dupA +#157:4190 NM_000059.3:c.3067_3071delAACAT +#160:4164 BRCA2:p.Q1037* +#159:4169 NM_000059.3:c.3160_3163delGATA +#157:4195 NM_000059.3:c.3170_3174delAGAAA +#160:4169 NM_000059.3:c.3195_3198delTAAT +#160:4170 NM_000059.3:c.3248delA +#158:4183 NM_000059.3:c.3270delG +#160:4173 NM_000059.3:c.3354delA +#160:4175 BRCA2:p.L1152* +#158:4188 NM_000059.3:c.3500_3501delTA +#158:4189 NM_000059.3:c.3599_3600delGT +#159:4182 NM_000059.3:c.3685delG +#159:4183 NM_000059.3:c.36dupT +#157:4209 NM_000059.3:c.3744_3747delTGAG +#157:4211 BRCA2:p.S1271* +#157:4212 NM_000059.3:c.3859_3860delAA +#158:4197 BRCA2:p.Q1291* +#160:4187 NM_000059.3:c.3919delG +#160:4189 NM_000059.3:c.3939delC +#159:4194 BRCA2:p.E1320* +#157:4220 BRCA2:p.L1334* +#157:4221 NM_000059.3:c.4019delA +#157:4222 NM_000059.3:c.4076delC +#159:4199 BRCA2:p.K1367* +#157:4225 NM_000059.3:c.4130delA +#157:4226 NM_000059.3:c.4169delT +#159:4203 BRCA2:p.Q1408* +#160:4201 NM_000059.3:c.4284dupT +#158:4214 NM_000059.3:c.4339delG +#158:4215 NM_000059.3:c.4409_4413delTAAGA +#159:4208 NM_000059.3:c.4456_4459delGTTA +#160:4206 BRCA2:p.Q1509* +#157:4235 NM_000059.3:c.4556delC +#159:4212 NM_000059.3:c.4630_4631insG +#158:4222 BRCA2:p.E1550* +#159:4215 NM_000059.3:c.470_474delAGTCA +#159:4216 NM_000059.3:c.475+1G>A +#160:4214 NM_000059.3:c.476-2A>G +#157:4243 NM_000059.3:c.4821_4823delinsC +#159:4220 NM_000059.3:c.4876_4877delAA +#158:4230 BRCA2:p.K1645* +#159:4223 BRCA2:p.Y1655* +#160:4221 NM_000059.3:c.5035delA +#160:4222 NM_000059.3:c.5073delA +#157:4251 NM_000059.3:c.5130_5133delTGTA +#157:4252 NM_000059.3:c.51_52delAC +#159:4229 NM_000059.3:c.517-1G>A +#157:4255 NM_000059.3:c.5180delA +#157:4256 NM_000059.3:c.5217_5221delTTTAA +#158:4241 NM_000059.3:c.5219_5220dupTA +#160:4231 BRCA2:p.Y1749* +#158:4244 BRCA2:p.Y1757* +#157:4262 NM_000059.3:c.5297delA +#159:4239 NM_000059.3:c.5350_5351delAA +#160:4237 BRCA2:p.Q1802* +#157:4266 NM_000059.3:c.5446dupA +#160:4240 NM_000059.3:c.5482_5486delAAATT +#158:4253 BRCA2:p.E1857* +#159:4246 NM_000059.3:c.5585_5588delTGAA +#160:4244 NM_000059.3:c.5616_5620delAGTAA +#160:4246 BRCA2:p.C1885* +#160:4248 NM_000059.3:c.5717_5718delAC +#160:4249 NM_000059.3:c.5724delA +#157:4278 NM_000059.3:c.5778_5779delTG +#159:4255 NM_000059.3:c.5799_5802delCCAA +#160:4253 NM_000059.3:c.5823delA +#158:4266 NM_000059.3:c.5851_5854delAGTT +#159:4259 NM_000059.3:c.5863delT +#157:4285 BRCA2:p.S1970* +#159:4262 NM_000059.3:c.5954_5955delCT +#157:4288 BRCA2:p.Q1994* +#158:4273 BRCA2:p.Q2009* +#159:4266 NM_000059.3:c.6059_6062delAACA +#157:4292 NM_000059.3:c.6071delA +#157:4293 NM_000059.3:c.6096dupT +#158:4278 NM_000059.3:c.6154delT +#159:4271 NM_000059.3:c.6198_6199delTT +#160:4269 NM_000059.3:c.6209_6212delAAAG +#157:4298 BRCA2:p.L2080* +#157:4299 NM_000059.3:c.6277delC +#158:4284 NM_000059.3:c.631+1G>A +#160:4274 NM_000059.3:c.632-1G>C +#160:4275 NM_000059.3:c.6340_6343delCCAG +#160:4276 NM_000059.3:c.6373delA +#157:4305 NM_000059.3:c.6393delA +#158:4290 NM_000059.3:c.6405_6409delCTTAA +#158:4291 NM_000059.3:c.6444_6447delTATT +#158:4292 NM_000059.3:c.6447delT +#159:4285 NM_000059.3:c.6486_6489delACAA +#160:4283 NM_000059.3:c.6528_6535dupCATTCATG +#158:4296 BRCA2:p.K2188* +#160:4286 NM_000059.3:c.6591delT +#160:4287 NM_000059.3:c.6626_6627delTA +#160:4288 NM_000059.3:c.6643delT +#158:4301 NM_000059.3:c.6658_6661delGAAA +#158:4302 NM_000059.3:c.6678delA +#159:4295 NM_000059.3:c.67+2T>A +#159:4296 NM_000059.3:c.6757_6758delCT +#157:4322 NM_000059.3:c.6809delG +#157:4323 NM_000059.3:c.682-2A>G +#159:4300 NM_000059.3:c.692_704dupGCTATTTTTCCAA +#160:4298 BRCA2:p.R2318* +#160:4299 NM_000059.3:c.7007+1G>A +#160:4301 NM_000059.3:c.7008-1G>A +#157:4330 BRCA2:p.Q2342* +#158:4315 NM_000059.3:c.7109_7110delAA +#160:4305 NM_000059.3:c.7151_7152delAA +#157:4334 NM_000059.3:c.7211_7212delAA +#158:4319 NM_000059.3:c.7254_7255delAG +#160:4309 BRCA2:p.R245* +#157:4338 NM_000059.3:c.7379_7382delACAA +#157:4339 NM_000059.3:c.7436-2A>T +#159:4316 BRCA2:p.R2494* +#160:4314 NM_000059.3:c.755_758delACAG +#158:4327 NM_000059.3:c.756_759delCAGT +#158:4328 NM_000059.3:c.7594_7595insTT +#158:4329 NM_000059.3:c.7617+2T>G +#159:4322 NM_000059.3:c.7664_7665insC +#157:608 BRCA2:p.Q2561* +#158:4333 BRCA2:p.Q258* +#158:4335 NM_000059.3:c.7761delC +#158:4336 NM_000059.3:c.7762delA +#158:4337 NM_000059.3:c.7806-1G>T +#159:4330 BRCA2:p.W2619* +#159:5420 BRCA2:p.I2627F +#157:4358 NM_000059.3:c.7921_7926delinsAG +#157:4359 NM_000059.3:c.7934delG +#160:4333 NM_000059.3:c.7976+1G>A +#157:40 BRCA2:p.E2663V +#160:4336 NM_000059.3:c.8021delA +#157:4366 NM_000059.3:c.8042_8043delCA +#158:4351 NM_000059.3:c.8068_8069delGT +#157:4369 BRCA2:p.S270* +#159:4346 NM_000059.3:c.8172_8175dupGTGG +#158:4356 NM_000059.3:c.8237_8238delCA +#160:4346 NM_000059.3:c.8331+1G>T +#160:4347 NM_000059.3:c.8394_8396delinsAA +#159:4352 NM_000059.3:c.8463delT +#160:4350 NM_000059.3:c.8488-9T>G +#160:4352 NM_000059.3:c.8505delA +#158:4365 NM_000059.3:c.8540delAinsTTC +#160:4355 BRCA2:p.Q2859* +#159:4360 BRCA2:p.L2865* +#160:4358 NM_000059.3:c.8673_8674delAA +#157:4387 NM_000059.3:c.8713_8716delTATG +#160:4361 NM_000059.3:c.8755-1G>A +#158:4374 NM_000059.3:c.8789delA +#160:4364 NM_000059.3:c.8900delC +#157:4393 BRCA2:p.S2978* +#158:4378 NM_000059.3:c.8954-1_8955delinsAA +#158:4379 NM_000059.3:c.896_897insC +#157:4397 BRCA2:p.L3000* +#159:4374 NM_000059.3:c.9026_9030delATCAT +#160:4372 NM_000059.3:c.9057delA +#157:4401 NM_000059.3:c.9097delA +#158:4386 NM_000059.3:c.9117+1G>A +#160:4376 BRCA2:p.Q3050* +#158:4389 BRCA2:p.L3061* +#160:4379 NM_000059.3:c.9253dupA +#158:4392 NM_000059.3:c.9257-1G>C +#157:4410 BRCA2:p.Y3098* +#160:4384 BRCA2:p.W3106* +#158:4397 NM_000059.3:c.937dupT +#157:4415 NM_000059.3:c.9401delG +#157:4416 NM_000059.3:c.9431delC +#159:4393 BRCA2:p.K3161* +#157:4419 NM_000059.3:c.9507delT +#158:4404 BRCA2:p.S3200* +#159:4397 NM_000059.3:c.9672dupA +#157:4423 NM_000059.3:c.9690dupA +#159:4400 BRCA2:p.Y3308* +#160:4398 NM_000059.3:c.994delA +#158:4411 NM_032043.2:c.1510dupA +#160:43 BRIP1:p.R798* +#157:4430 NM_005188.3:c.1687_1689delinsGG +#157:4432 NM_004360.3:c.1064dupT +#159:2424 CDH1:p.R598* +#159:4411 CDH1:p.Y755* +#160:4409 NM_004360.3:c.377delC +#160:5227 CDK4:p.R24C +#160:4413 NM_000077.4:c.164delG +#157:4443 NM_000077.4:c.225_243delCGCCACTCTCACCCGACCC +#157:4445 NM_000077.4:c.243_244delinsT +#160:4419 NM_000077.4:c.30_47delinsCA +#158:4432 NM_000077.4:c.407delG +#158:2762 CDKN2A:p.R24P +#157:4452 NM_007194.3:c.1461+1G>T +#159:54 CHEK2:p.R145W +#159:4430 DICER1:p.Q301* +#159:969 EGFR:p.G719C +#160:4430 NM_005228.3:c.2236_2248delinsATTC +#158:4443 NM_005228.3:c.2236_2252delinsAGAGCAAG +#159:4436 NM_005228.3:c.2237_2257delinsTCT +#157:4462 NM_005228.3:c.2240_2257delTAAGAGAAGCAACATCTC +#157:1807 EGFR:p.S768I +#160:4438 NM_005228.3:c.2311delAinsGGCACAC +#160:907 EGFR:p.C797S +#158:4454 EPCAM:p.M1R +#158:4456 NM_004456.4:c.1184delG +#160:4447 EZH2:p.W60* +#159:4453 EZH2:p.E22* +#158:4463 NM_000143.3:c.1293delA +#159:4456 NM_000143.3:c.939delA +#160:3482 FLCN:p.R527* +#158:4467 NM_144997.5:c.890_893delAAAG +#158:4469 GATA2:p.W306* +#160:4459 NM_000222.2:c.1650_1676delACCCATGTATGAAGTACAGTGGAAGGT +#158:4472 NM_000222.2:c.1653_1677delinsTTCC +#160:4462 NM_000222.2:c.1657_1680delinsGTTGTG +#157:4491 NM_000222.2:c.1663_1668delGTACAG +#157:4492 NM_000222.2:c.1665_1679delACAGTGGAAGGTTGT +#158:4477 NM_000222.2:c.1669_1683delTGGAAGGTTGTTGAG +#159:4470 NM_000222.2:c.1672_1673insTTC +#160:4468 NM_000222.2:c.1675_1695delGTTGTTGAGGAGATAAATGGA +#160:1024 KIT:p.V559A +#158:5288 KIT:p.V560D +#157:4501 NM_000222.2:c.1708_1728delTACATAGACCCAACACAACTT +#158:4486 NM_000222.2:c.1727_1729delTTC +#160:4476 NM_000222.2:c.1739_1740insGACCCAACACAACTTCCTTATGATCCA +#158:4489 NM_000222.2:c.2045delT +#160:1020 KIT:p.D816V +#160:1564 MEN1:p.R465* +#160:4484 MEN1:p.Y232* +#159:4489 NM_000245.2:c.3537delA +#157:4516 MLH1:p.Q346H +#158:4501 NM_000249.3:c.1190delT +#159:4494 NM_000249.3:c.1441dupA +#158:4504 NM_000249.3:c.1559-1G>T +#158:4506 MLH1:p.L590* +#160:4496 NM_000249.3:c.1896+1G>A +#159:4501 MLH1:p.P654L +#158:4511 MLH1:p.W666* +#158:4513 NM_000249.3:c.210_213delAGAA +#157:4531 NM_000249.3:c.2195_2198dupAACA +#160:4505 NM_000249.3:c.346dupA +#158:4518 NM_000249.3:c.456_545+2delGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGT +#159:4511 NM_000249.3:c.566delG +#157:4537 MLH1:p.R226Q +#159:4514 NM_000249.3:c.67delG +#158:4524 NM_000249.3:c.816delG +#157:4542 MSH2:p.W345* +#159:4519 MSH2:p.Y405= +#160:4517 NM_000251.2:c.1276+1G>A +#158:4530 NM_000251.2:c.141_154delCGAGGACGCGCTGC +#158:4532 NM_000251.2:c.1578delC +#160:4522 NM_000251.2:c.1760-1G>A +#158:1041 MSH2:p.A636P +#158:4537 NM_000251.2:c.2006-2A>G +#157:4555 NM_000251.2:c.211+1G>T +#160:4529 NM_000251.2:c.2140delG +#158:4542 NM_000251.2:c.2423_2424delAA +#157:4560 NM_000251.2:c.2633_2634delAG +#158:4545 NM_000251.2:c.475dupA +#157:4563 NM_000251.2:c.571_573delCTC +#159:4540 MSH2:p.S281* +#160:4538 NM_000251.2:c.942+3A>T +#160:4540 NM_000179.2:c.114dupC +#158:4553 NM_000179.2:c.1571dupA +#160:4543 NM_000179.2:c.1982delG +#159:4548 NM_000179.2:c.2230dupG +#160:4547 NM_000179.2:c.2677_2678delCT +#160:4549 MSH6:p.R1005* +#158:4563 MSH6:p.S1028* +#157:4581 NM_000179.2:c.3163dupG +#159:4558 NM_000179.2:c.3260_3261dupCC +#160:4556 NM_000179.2:c.3311_3312delTT +#157:4585 NM_000179.2:c.3439-2A>G +#157:4586 NM_000179.2:c.3513_3514delTA +#160:4560 NM_000179.2:c.3573dupT +#158:4573 NM_000179.2:c.3847_3850dupATTA +#159:4566 NM_000179.2:c.3959_3962delCAAG +#159:4567 NM_000179.2:c.4001+1delG +#159:4569 NM_000179.2:c.578delT +#159:606 MSH6:p.R240* +#158:4581 MUTYH:p.S346= +#159:4575 NM_001128425.1:c.1227_1228dupGG +#160:4574 NM_001128425.1:c.596delG +#158:4588 MUTYH:p.G286E +#160:4578 NM_002485.4:c.657_661delACAAA +#158:4591 NF1:p.Q400* +#157:4609 NM_001042492.2:c.154delT +#160:4584 NM_001042492.2:c.1845+1G>T +#157:4614 NF1:p.E800* +#160:4589 NF1:p.Q950* +#160:4591 NM_001042492.2:c.338dupT +#157:2476 NF1:p.R1241* +#157:4624 NF1:p.Q1360* +#160:4599 NF1:p.W1559* +#158:2475 NF1:p.R1769* +#160:4604 NM_001042492.2:c.5833delT +#159:4610 NF1:p.R2119* +#160:4609 NM_001042492.2:c.6855_6856delCA +#160:4611 NM_001042492.2:c.7615_7615+1delinsAGTTAT +#157:4641 NF1:p.K2652* +#159:4619 NM_024675.3:c.1032_1033dupCT +#160:4617 NM_024675.3:c.1317delG +#158:4630 NM_024675.3:c.172_175delTTGT +#158:4632 NM_024675.3:c.2160_2161insG +#160:4622 PALB2:p.Q775* +#159:4627 PALB2:p.W906* +#157:4653 NM_024675.3:c.2964delA +#160:4628 PALB2:p.R1086* +#159:4633 NM_024675.3:c.487_488delGT +#160:5253 PDGFRA:p.V561D +#157:4661 NM_000535.5:c.1076dupT +#158:4647 PMS2:p.R469* +#160:4637 NM_000535.5:c.164-9_178delinsGATCC +#158:4651 PMS2:p.K647* +#159:4644 NM_000535.5:c.2275+1G>A +#160:4642 NM_000535.5:c.251-2A>T +#160:4644 NM_000535.5:c.593dupT +#158:4657 NM_000535.5:c.861_864delACAG +#157:2886 PTEN:p.R335* +#157:4677 NM_000314.4:c.270delT +#158:4663 NM_000314.4:c.39_40delAA +#159:4657 NM_000314.4:c.491dupA +#157:232 PTEN:p.R233* +#158:4670 NM_000314.4:c.820delT +#160:4661 NM_000314.4:c.955_958delACTT +#157:1985 PTPN11:p.E76A +#158:4677 RAD51C:p.Y209* +#159:4670 NM_002878.3:c.772_778delGGGAGGC +#160:4668 RET:p.C609R +#160:4670 RET:p.C620S +#160:186 RET:p.C634R +#160:187 RET:p.L790F +#159:4679 NM_001754.4:c.1159_1168dupGGCTCGTCGC +#158:4689 NM_001754.4:c.301delG +#159:4683 NM_001754.4:c.369dupT +#160:4682 RUNX1:p.R166* +#158:4696 NM_001754.4:c.709delA +#158:4698 NM_004168.3:c.1460dupA +#157:4717 SDHA:p.E164* +#157:4719 NM_003000.2:c.201_286delATGTGGCCCCATGGTATTGGATGCTTTAATCAAGATTAAGAATGAAGTTGACTCTACTTTGACCTTCCGAAGATCATGCAGAGAAG +#157:193 SDHB:p.I127S +#158:4706 NM_003001.3:c.405+1G>A +#159:4700 SDHD:p.P81L +#157:4726 NM_003002.2:c.314+1G>A +#158:4712 NM_005359.5:c.112dupA +#158:4714 NM_005359.5:c.1245_1248delCAGA +#159:4708 NM_005359.5:c.1351_1375delGCGGCTACTGCACAAGCTGCAGCAG +#160:4707 NM_005359.5:c.517_527delTCCACTGAAGG +#158:3148 SMAD4:p.Q245* +#158:4723 SMARCA4:p.Q575* +#157:4741 NM_000455.4:c.119delG +#159:4719 STK11:p.S69* +#157:4746 NM_000455.4:c.387_388delinsTT +#159:4724 STK11:p.E165* +#159:4726 NM_000455.4:c.619delG +#157:4753 NM_000455.4:c.735-2A>T +#157:4755 NM_000455.4:c.804delG +#159:5397 TP53:p.R337C +#160:4732 NM_000546.5:c.1024delC +#157:4762 NM_000546.5:c.107delC +#158:3294 TP53:p.W53* +#159:4742 NM_000546.5:c.216delC +#159:4744 NM_000546.5:c.245delC +#159:4746 NM_000546.5:c.277_293delCTGTCATCTTCTGTCCC +#160:4745 NM_000546.5:c.287_288delCT +#160:4747 NM_000546.5:c.314delG +#160:4749 NM_000546.5:c.325_326delTT +#157:4779 NM_000546.5:c.375+2T>C +#160:4753 NM_000546.5:c.389_393delTCAAC +#157:4783 NM_000546.5:c.421_424delTGCC +#158:4769 NM_000546.5:c.425delC +#160:4760 NM_000546.5:c.448_460delACACCCCCGCCCG +#157:4790 NM_000546.5:c.455delC +#157:4792 NM_000546.5:c.466_472delCGCGTCC +#158:4778 NM_000546.5:c.475_476delGC +#158:4780 NM_000546.5:c.499_500delCA +#160:1119 TP53:p.R175H +#157:4801 NM_000546.5:c.560-22_560delATTCCTCACTGATTGCTCTTAGG +#160:213 TP53:p.I195T +#159:4781 TP53:p.L201* +#159:2376 TP53:p.R213* +#157:221 TP53:p.Y220S +#160:4784 NM_000546.5:c.685dupT +#160:4786 NM_000546.5:c.704delA +#160:5384 TP53:p.C242S +#157:2018 TP53:p.G245D +#159:4797 NM_000546.5:c.747delGinsTT +#159:4799 TP53:p.E258* +#158:4809 NM_000546.5:c.80delC +#159:4803 NM_000546.5:c.831_837delTCCTGGG +#157:4830 TP53:p.E286* +#158:4816 NM_000546.5:c.868_871delCGCA +#158:4818 NM_000546.5:c.879_880delinsTT +#159:4812 NM_000546.5:c.902delC +#159:4814 NM_000546.5:c.91delG +#157:4841 NM_000546.5:c.968_986dupTGGATGGAGAATATTTCAC +#157:4843 TP53:p.Q331* +#159:4820 NM_000548.3:c.4375delC +#160:4818 NM_000551.3:c.390_391delTA +#157:4847 NM_024426.3:c.1105_1109dupCGACG +#160:4821 NM_024426.3:c.786_787insCAAG +#160:4823 NM_000038.4:c.1820_1821delinsAG +#159:4828 NM_000059.3:c.1454delAinsTGTATT +#160:4826 NM_000059.3:c.7494_7496delinsG +#160:4827 NM_000222.2:c.1648-3_1673delCAGAAACCCATGTATGAAGTACAGTGGAA +#159:4832 NM_000251.2:c.942+2_942+6delTAAAA +#157:4858 NM_000314.4:c.562_565dupTATA +#158:4843 NM_000546.5:c.270delC +#160:1576 APC:p.Q358* +#158:3726 APC:p.W421* +#157:3744 NM_000038.4:c.1354_1355dupGT +#160:3718 APC:p.Q473* +#158:3291 APC:p.R499* +#157:3750 NM_000038.4:c.1620dupA +#158:2245 APC:p.W553* +#160:3727 NM_000038.4:c.1742delA +#158:3741 APC:p.W593* +#159:3735 NM_000038.4:c.1886dupT +#159:3737 NM_000038.4:c.2121delCinsAAA +#160:3736 APC:p.E761* +#158:3750 NM_000038.4:c.2387_2388delAT +#159:3744 NM_000038.4:c.2486_2487delCA +#160:3743 NM_000038.4:c.2527_2530delAGTT +#160:3745 NM_000038.4:c.2547_2548delTA +#159:3751 APC:p.Q901* +#160:3750 APC:p.K939* +#158:3764 APC:p.Y96* +#159:3758 NM_000038.4:c.3077delA +#157:3785 NM_000038.4:c.3202_3205delTCAA +#159:3763 APC:p.R1114= +#160:3762 APC:p.E1145* +#160:3764 APC:p.Q1175* +#159:3769 NM_000038.4:c.3595_3596delAA +#158:3779 NM_000038.4:c.3690_3700delinsC +#160:3769 APC:p.E1286* +#160:3771 NM_000038.4:c.3878delC +#157:3801 NM_000038.4:c.3892_3902delTCTGCTAATAC +#158:440 APC:p.E1306* +#158:3789 NM_000038.4:c.3927_3931delAAAGA +#158:1544 APC:p.Q1328* +#157:3810 APC:p.K1350* +#158:3796 APC:p.G1357* +#159:3790 NM_000038.4:c.4127_4128delAT +#159:3792 NM_000038.4:c.4170delC +#157:3819 NM_000038.4:c.4206delC +#157:3821 APC:p.R141S +#160:3795 NM_000038.4:c.4271delC +#157:3825 NM_000038.4:c.4316_4319delCTCC +#158:3811 NM_000038.4:c.4359delT +#158:3813 NM_000038.4:c.4415delT +#158:3815 NM_000038.4:c.4473dupT +#158:3817 NM_000038.4:c.4573delA +#158:3819 NM_000038.4:c.4666dupA +#157:3837 APC:p.Q163* +#158:3822 NM_000038.4:c.5145delC +#157:3840 NM_000038.4:c.5854_5860delCAGAATT +#157:3843 APC:p.K226* +#160:3287 APC:p.R283* +#159:1342 APC:p.R302* +#158:3834 NM_000051.3:c.1914_1929dupAGATAAAGAAGAACTT +#160:3824 NM_000051.3:c.2502dupA +#157:3853 NM_000051.3:c.3245_3247delinsTGAT +#158:3838 NM_000051.3:c.4098_4099delTG +#157:3856 ATM:p.R1898* +#159:3833 ATM:p.K1964* +#160:1821 ATM:p.V2424G +#160:3833 ATM:p.R2598* +#160:3834 NM_000051.3:c.8052_8055delGTCA +#158:3847 NM_000051.3:c.864delT +#159:2613 BLM:p.R899* +#159:3842 BMPR1A:p.R228* +#157:3868 NM_007294.3:c.1018delG +#157:3870 BRCA1:p.E352* +#160:3844 NM_007294.3:c.1072delC +#160:3845 NM_007294.3:c.1088delA +#158:3858 NM_007294.3:c.1121_1123delinsT +#159:3851 BRCA1:p.K381* +#159:3852 NM_007294.3:c.1175_1214delTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATC +#158:3862 NM_007294.3:c.1232_1233delAT +#159:3855 NM_007294.3:c.1255delG +#157:3881 NM_007294.3:c.1297delG +#159:3858 NM_007294.3:c.1319delT +#160:3856 NM_007294.3:c.1335_1336delAA +#160:3857 NM_007294.3:c.134+2T>C +#160:3858 NM_007294.3:c.135-2A>G +#158:3871 NM_007294.3:c.1383delT +#158:3872 NM_007294.3:c.1389_1390delinsG +#160:3862 NM_007294.3:c.139dupT +#158:3875 NM_007294.3:c.143delT +#158:3876 NM_007294.3:c.144delG +#157:3894 NM_007294.3:c.1492delC +#159:3871 NM_007294.3:c.1505_1509delTAAAG +#159:3872 NM_007294.3:c.1518delG +#160:3870 NM_007294.3:c.1551delT +#157:3899 NM_007294.3:c.1583_1589delCTCCTGA +#160:3873 BRCA1:p.Q541* +#157:3902 NM_007294.3:c.1649delA +#158:3887 NM_007294.3:c.171delG +#159:3880 NM_007294.3:c.1757delC +#157:3906 BRCA1:p.E597* +#160:3880 NM_007294.3:c.1_80delATGGATTTATCTGCTCTTCGCGTTGAAGAAGTACAAAATGTCATTAATGCTATGCAGAAAATCTTAGAGTGTCCCATCTG +#159:3885 NM_007294.3:c.1823_1826delAGAA +#157:3911 BRCA1:p.K614* +#159:3888 NM_007294.3:c.1893_1894insT +#157:3914 BRCA1:p.L639* +#159:3891 NM_007294.3:c.19_47delCGCGTTGAAGAAGTACAAAATGTCATTAA +#159:3892 NM_007294.3:c.195delG +#160:3890 NM_007294.3:c.1961dupA +#158:3903 NM_007294.3:c.2017delG +#160:3893 NM_007294.3:c.2038_2039insCC +#157:3922 NM_007294.3:c.2074delC +#158:3907 NM_007294.3:c.2110_2111delAA +#159:3900 NM_007294.3:c.212+1G>T +#160:3898 NM_007294.3:c.213-11T>G +#157:3927 BRCA1:p.S713* +#160:3901 NM_007294.3:c.2176delC +#158:3914 BRCA1:p.E732* +#158:3915 NM_007294.3:c.2203delC +#159:3908 NM_007294.3:c.2210delC +#160:3906 NM_007294.3:c.2217dupA +#160:3907 NM_007294.3:c.2263delG +#158:3920 NM_007294.3:c.2283_2284delAA +#160:3910 BRCA1:p.S770* +#157:3939 NM_007294.3:c.232delA +#159:3916 NM_007294.3:c.2351_2357delCGTTACT +#160:3914 BRCA1:p.E797* +#157:3943 BRCA1:p.C801* +#158:3928 NM_007294.3:c.2411_2412delAG +#160:3918 NM_007294.3:c.2443delA +#160:3919 NM_007294.3:c.2475delC +#160:3920 NM_007294.3:c.2487delT +#160:3921 NM_007294.3:c.2517_2518delCA +#159:3926 BRCA1:p.Y856* +#157:3952 NM_007294.3:c.2611_2612delCC +#158:3937 BRCA1:p.E879* +#159:3930 NM_007294.3:c.2658_2659insA +#159:3931 NM_007294.3:c.2681_2682delAA +#159:3932 NM_007294.3:c.2702_2703delTT +#157:3958 BRCA1:p.E908* +#157:3959 NM_007294.3:c.2727_2730delTCAA +#159:3937 BRCA1:p.E914* +#160:3935 NM_007294.3:c.2762delA +#160:3936 NM_007294.3:c.2796_2799delTGGT +#157:3965 NM_007294.3:c.2812_2813delinsG +#159:3942 NM_007294.3:c.2834_2836delinsC +#160:3940 NM_007294.3:c.2868delT +#157:3969 NM_007294.3:c.2889_2890delTG +#157:3970 NM_007294.3:c.2920_2921delTT +#160:3944 BRCA1:p.Y978* +#160:3945 NM_007294.3:c.2980delT +#157:3974 NM_007294.3:c.2999delA +#157:3975 NM_007294.3:c.3018_3021delTTCA +#158:3960 NM_007294.3:c.302-2A>C +#159:3953 BRCA1:p.S1009* +#157:3979 BRCA1:p.E1017* +#158:3964 NM_007294.3:c.3107_3112delTTAAAG +#160:3954 BRCA1:p.E1060* +#160:3955 NM_007294.3:c.3194_3195insG +#160:3956 NM_007294.3:c.321delT +#157:3985 BRCA1:p.L1080* +#159:3962 BRCA1:p.L1086* +#158:3972 NM_007294.3:c.3288_3289delAA +#158:3973 NM_007294.3:c.329dupA +#157:3991 NM_007294.3:c.3323_3326delTAAA +#157:3992 NM_007294.3:c.3330_3331insA +#159:3969 BRCA1:p.Y1113* +#157:3995 NM_007294.3:c.3357delT +#157:3996 NM_007294.3:c.3365_3366delCA +#158:3981 NM_007294.3:c.3397_3398delTT +#157:3999 NM_007294.3:c.3407delC +#159:3976 BRCA1:p.Q1144* +#159:3977 NM_007294.3:c.3477_3480delAAAG +#160:3975 NM_007294.3:c.3531delT +#157:4004 NM_007294.3:c.3569_3570delCT +#158:3989 BRCA1:p.Q1200* +#160:3979 NM_007294.3:c.3626delT +#157:4008 NM_007294.3:c.3642_3643delGA +#159:3985 BRCA1:p.E1222* +#157:4011 BRCA1:p.L1230* +#158:3996 NM_007294.3:c.3706_3713delAATATACC +#159:3989 NM_007294.3:c.3722_3740delCTACTAGGCATAGCACCGT +#160:3987 NM_007294.3:c.3756_3759delGTCT +#160:3988 NM_007294.3:c.3761_3762insTT +#159:682 BRCA1:p.E1258* +#159:3994 BRCA1:p.S1262* +#160:3992 NM_007294.3:c.3839_3843delinsAGGC +#157:4021 NM_007294.3:c.3858_3861delTGAG +#158:4006 NM_007294.3:c.3869_3870delAA +#157:4024 BRCA1:p.E1302* +#159:4001 NM_007294.3:c.3931_3934delAACA +#157:4027 NM_007294.3:c.3966delA +#158:4012 NM_007294.3:c.399_400delTG +#160:4002 NM_007294.3:c.4038_4039delAA +#158:4015 NM_007294.3:c.4065_4068delTCAA +#160:4005 NM_007294.3:c.4096+1G>A +#160:4006 NM_007294.3:c.4111_4112insATCT +#157:4035 NM_007294.3:c.4120_4121delAG +#158:4020 NM_007294.3:c.4128_4129delAA +#160:4010 NM_007294.3:c.4163_4166delAGAG +#157:4039 BRCA1:p.Q1395* +#158:4024 NM_007294.3:c.4186_4357dupCAGAGGGATACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAACAGCTACCCTTCCATCATAAGTGACTCTTCTGCCCTTGAGGACCTGCGAAATCCAGAACAAAGCACATCAGAAAAAG +#159:4017 NM_007294.3:c.4214delT +#157:4043 NM_007294.3:c.4243delG +#159:4020 NM_007294.3:c.4285_4286insG +#159:4022 BRCA1:p.Q1447* +#159:4023 NM_007294.3:c.4357+2T>G +#157:4049 NM_007294.3:c.4373_4389delAGAAAAGTAGTGAATAC +#159:4026 NM_007294.3:c.4391_4403delinsTT +#157:4052 NM_007294.3:c.4416_4417delinsG +#159:4029 NM_007294.3:c.4484+1G>A +#157:4055 NM_007294.3:c.4485-2A>G +#157:4057 BRCA1:p.W1508* +#159:4034 BRCA1:p.Q1525* +#159:4036 BRCA1:p.Q1537* +#158:4046 BRCA1:p.E1541* +#160:4036 BRCA1:p.Q1556* +#158:2950 BRCA1:p.E1559K +#160:4039 BRCA1:p.G1560* +#157:4068 NM_007294.3:c.4745delA +#158:4053 BRCA1:p.K1601* +#157:4071 BRCA1:p.A1623G +#157:4072 NM_007294.3:c.4944_4945delAA +#158:4057 NM_007294.3:c.4966_4984delGGCCTGACCCCAGAAGAAT +#159:4050 NM_007294.3:c.4986+4A>C +#160:4048 NM_007294.3:c.4987_5074delATGCTCGTGTACAAGTTTGCCAGAAAACACCACATCACTTTAACTAATCTAATTACTGAAGAGACTACTCATGTTGTTATGAAAACAG +#157:4077 NM_007294.3:c.5030_5033delCTAA +#157:1615 BRCA1:p.E1683* +#160:4052 NM_007294.3:c.5074+2T>C +#160:2735 BRCA1:p.D1692Y +#159:4058 NM_007294.3:c.5075-2A>T +#160:2743 BRCA1:p.R1699W +#160:4058 BRCA1:p.Y1703* +#159:4063 BRCA1:p.W1712* +#158:4073 BRCA1:p.Q172* +#158:4074 NM_007294.3:c.5152+1G>C +#158:4075 NM_007294.3:c.5153-1G>C +#160:4065 NM_007294.3:c.5156_5157delTG +#158:4078 NM_007294.3:c.5177_5178delGA +#159:4071 NM_007294.3:c.5193+2delT +#159:4072 NM_007294.3:c.5194-2A>G +#157:4098 BRCA1:p.R1737* +#160:4072 BRCA1:p.Q1747* +#157:2627 BRCA1:p.R1751* +#160:4075 NM_007294.3:c.5266dupC +#157:4104 NM_007294.3:c.5277+1dupG +#159:4081 NM_007294.3:c.5278-1G>T +#160:4079 NM_007294.3:c.529delT +#160:4080 NM_007294.3:c.5311_5332+1delCCCTTCACCAACATGCCCACAGG +#157:4109 NM_007294.3:c.5332+2T>A +#158:4094 NM_007294.3:c.5341delG +#158:4096 NM_007294.3:c.5370_5397delTGTGGTGAAGGAGCTTTCATCATTCACC +#159:4089 NM_007294.3:c.5406+2delT +#159:4090 NM_007294.3:c.5407-2A>T +#160:4088 BRCA1:p.W1815* +#158:4101 NM_007294.3:c.5467+2T>G +#158:4102 NM_007294.3:c.547+1G>T +#158:4103 NM_007294.3:c.5496_5506delinsA +#160:4093 BRCA1:p.E1836* +#159:4098 BRCA1:p.Y1845* +#159:4100 NM_007294.3:c.64_65delTT +#157:4126 NM_007294.3:c.66dupA +#157:4127 NM_007294.3:c.685delT +#158:4112 NM_007294.3:c.70_71insTGTC +#159:4105 BRCA1:p.E255* +#160:4103 NM_007294.3:c.794_795delCT +#157:4132 NM_007294.3:c.81_134delTCTGGAGTTGATCAAGGAACCTGTCTCCACAAAGTGTGACCACATATTTTGCAA +#159:4109 NM_007294.3:c.81-2delA +#160:4107 NM_007294.3:c.83_84delTG +#157:4136 NM_007294.3:c.851_852delAG +#158:4121 NM_007294.3:c.902_903insT +#158:4122 NM_007294.3:c.929delA +#160:4112 NM_007294.3:c.952_1015delCATAACAGATGGGCTGGAAGTAAGGAAACATGTAATGATAGGCGGACTCCCAGCACAGAAAAAA +#157:4141 NM_007294.3:c.980_981delCA +#158:4126 NM_000059.3:c.1029delA +#160:4116 NM_000059.3:c.1128delT +#157:4145 NM_000059.3:c.1188_1189insTTAG +#158:4130 NM_000059.3:c.1225delG +#159:4123 BRCA2:p.Q421* +#159:4124 NM_000059.3:c.1293delA +#159:4125 NM_000059.3:c.1389_1390delAG +#159:4127 BRCA2:p.Q486* +#160:4125 NM_000059.3:c.1511_1512delCT +#157:4154 NM_000059.3:c.1595_1599delAAACT +#157:4155 NM_000059.3:c.1631_1632delCT +#160:4129 BRCA2:p.W563* +#157:4158 NM_000059.3:c.1754delA +#158:4143 BRCA2:p.E597* +#160:4133 NM_000059.3:c.1813dupA +#160:4135 BRCA2:p.S611* +#157:4164 NM_000059.3:c.1889delC +#159:4141 BRCA2:p.Q649* +#157:4167 NM_000059.3:c.2049_2050delTC +#159:4144 NM_000059.3:c.2085_2089delGGAAA +#159:4145 NM_000059.3:c.2103_2106delTATT +#157:4171 NM_000059.3:c.2287delC +#157:4173 BRCA2:p.Y792* +#160:4147 NM_000059.3:c.2442delC +#157:4176 BRCA2:p.Q84* +#160:4150 NM_000059.3:c.2545delG +#157:4179 NM_000059.3:c.2589delT +#159:4156 NM_000059.3:c.2622dupT +#159:4157 NM_000059.3:c.266delC +#159:4158 NM_000059.3:c.2743_2747delACTTG +#160:4156 NM_000059.3:c.2798delC +#160:4157 NM_000059.3:c.2812_2815delGCAA +#158:4170 NM_000059.3:c.2834_2835delAA +#159:4163 NM_000059.3:c.2899_2900delCT +#160:4161 BRCA2:p.W993* +#158:4174 NM_000059.3:c.3075_3076delinsTT +#157:4192 NM_000059.3:c.3146delA +#160:4166 NM_000059.3:c.316+2T>C +#159:4171 NM_000059.3:c.317-2A>G +#157:4197 NM_000059.3:c.3199delA +#158:4182 NM_000059.3:c.3262_3263delCC +#160:4172 NM_000059.3:c.3273_3276delATTT +#158:4185 BRCA2:p.S1121* +#157:4203 NM_000059.3:c.3458delA +#159:4180 NM_000059.3:c.3545_3546delTT +#160:4178 NM_000059.3:c.3639delA +#160:4179 NM_000059.3:c.3689delC +#157:4208 NM_000059.3:c.3708delA +#159:4185 BRCA2:p.E1250* +#158:4195 NM_000059.3:c.3834_3835delTA +#158:4196 NM_000059.3:c.3860_3863delATAA +#160:4186 BRCA2:p.L1294* +#158:4199 BRCA2:p.E1308* +#158:4201 BRCA2:p.K1314* +#157:4219 BRCA2:p.K1323* +#158:4204 NM_000059.3:c.4005dupA +#158:4205 NM_000059.3:c.4037_4038delCT +#158:4206 NM_000059.3:c.407delA +#160:4196 NM_000059.3:c.410delC +#158:4209 NM_000059.3:c.4133_4136delCTCA +#159:4202 BRCA2:p.E1391* +#157:4228 BRCA2:p.E1415* +#158:4213 BRCA2:p.Q1429* +#159:4206 NM_000059.3:c.4398_4402delACATT +#160:4204 NM_000059.3:c.4415_4418delAGAA +#160:4205 NM_000059.3:c.4471_4474delCTGA +#157:4234 NM_000059.3:c.4544dupA +#159:4211 BRCA2:p.K1530* +#160:4209 NM_000059.3:c.4631delA +#159:4214 NM_000059.3:c.4649_4650delAG +#160:4212 NM_000059.3:c.4712_4713delAG +#160:4213 NM_000059.3:c.475+1G>T +#157:4242 NM_000059.3:c.4780delA +#159:4219 NM_000059.3:c.4829_4830delTG +#158:3333 BRCA2:p.S1630* +#159:4222 NM_000059.3:c.4935delA +#157:4248 NM_000059.3:c.4965delC +#157:4249 NM_000059.3:c.5042_5043delTG +#157:4250 NM_000059.3:c.5073dupA +#158:4235 NM_000059.3:c.5132_5135delTAGG +#158:4236 NM_000059.3:c.5157_5161delTTCAA +#160:4226 NM_000059.3:c.517-2A>G +#158:4239 NM_000059.3:c.518delG +#158:4240 NM_000059.3:c.5217_5223delTTTAAGT +#159:4233 NM_000059.3:c.5222_5225delGTAA +#158:4243 NM_000059.3:c.52_61delCGCTGCAACA +#157:4261 BRCA2:p.S1760* +#159:4238 NM_000059.3:c.5303_5304delTT +#160:4236 NM_000059.3:c.5351delA +#157:4265 NM_000059.3:c.5410_5411delGT +#159:4242 NM_000059.3:c.5454delA +#157:4268 NM_000059.3:c.5526delT +#159:4245 NM_000059.3:c.5576_5579delTTAA +#160:4243 NM_000059.3:c.5595_5596delAT +#157:4272 NM_000059.3:c.5621_5624delTTAA +#158:4258 BRCA2:p.Q1886* +#157:4276 NM_000059.3:c.5720_5723delCTCT +#157:4277 NM_000059.3:c.574_575delAT +#159:4254 BRCA2:p.E1928* +#160:4252 NM_000059.3:c.5809_5812delTCTG +#157:4281 NM_000059.3:c.5827dupT +#159:4258 NM_000059.3:c.5851_5854dupAGTT +#157:4284 BRCA2:p.S1955* +#159:4261 BRCA2:p.C1975* +#157:4287 BRCA2:p.Q1987* +#158:4272 NM_000059.3:c.6001delT +#159:4265 NM_000059.3:c.6034dupT +#157:4291 BRCA2:p.S2022* +#158:4276 NM_000059.3:c.6078_6079delAA +#158:4277 NM_000059.3:c.6103delA +#159:4270 NM_000059.3:c.6167_6168delCT +#160:4268 NM_000059.3:c.6201delC +#157:4297 NM_000059.3:c.6216delC +#158:4282 NM_000059.3:c.6267_6269delinsC +#158:4283 NM_000059.3:c.6280_6286delTATTCAC +#159:4276 NM_000059.3:c.631+2T>G +#157:4302 NM_000059.3:c.632-2A>G +#157:4303 NM_000059.3:c.6352_6353delGT +#157:4304 NM_000059.3:c.6373dupA +#158:4289 NM_000059.3:c.6399_6417delAAATAACTTAAATGTTGAA +#159:4282 NM_000059.3:c.6407_6411delTAAAT +#159:4283 NM_000059.3:c.6445_6446delAT +#159:4284 NM_000059.3:c.6449_6450delAA +#157:4310 NM_000059.3:c.6490delC +#158:4295 BRCA2:p.E218* +#160:4285 NM_000059.3:c.6566dupA +#157:4314 NM_000059.3:c.6600_6601delTT +#157:4315 NM_000059.3:c.6629_6630delAA +#157:4316 NM_000059.3:c.6644_6647delACTC +#159:4293 NM_000059.3:c.6658_6662delGAAAA +#160:4291 BRCA2:p.E2239* +#160:4292 NM_000059.3:c.67+2T>C +#160:4293 NM_000059.3:c.6761_6762delTT +#158:4306 NM_000059.3:c.6816_6817delAA +#159:4299 NM_000059.3:c.6833_6837delTCTTA +#160:4297 NM_000059.3:c.6938-2A>G +#157:4326 NM_000059.3:c.6980delT +#157:2751 BRCA2:p.R2336H +#157:4329 NM_000059.3:c.7008-2A>G +#158:4314 NM_000059.3:c.7025_7026delAA +#160:4304 BRCA2:p.S2372* +#158:4317 BRCA2:p.R2394* +#158:4318 NM_000059.3:c.7226delC +#160:4308 BRCA2:p.Q2421* +#157:4337 NM_000059.3:c.7360delA +#158:4322 NM_000059.3:c.7412_7421delCAAAGTGTGA +#158:4323 NM_000059.3:c.7443delT +#160:4313 NM_000059.3:c.748delG +#158:2449 BRCA2:p.R2520* +#159:4319 NM_000059.3:c.7567_7568delCT +#159:4320 NM_000059.3:c.7596_7609delCTCTGCGTGTTCTC +#159:4321 NM_000059.3:c.7618-1G>A +#160:4319 NM_000059.3:c.7673_7674delAG +#157:4348 NM_000059.3:c.7689delC +#159:4325 NM_000059.3:c.7737_7749delACAGTTGGCTGAT +#159:4327 NM_000059.3:c.7762_7764delATA +#159:4328 NM_000059.3:c.778_779delGA +#159:4329 NM_000059.3:c.7806-2_7806-1dupAG +#157:4355 BRCA2:p.Y2621* +#157:4357 BRCA2:p.W2629* +#158:4342 NM_000059.3:c.793+1G>A +#158:4343 NM_000059.3:c.7954delG +#157:42 BRCA2:p.R2659K +#160:4335 BRCA2:p.R2666* +#158:1846 BRCA2:p.I2675V +#158:4350 NM_000059.3:c.8058delT +#160:4340 BRCA2:p.S2695* +#158:4353 NM_000059.3:c.8130delT +#157:4371 BRCA2:p.S273* +#159:4348 NM_000059.3:c.8247_8248delGA +#157:4374 NM_000059.3:c.8331+2T>C +#157:4375 NM_000059.3:c.8395delA +#160:4349 NM_000059.3:c.8474delC +#158:4362 BRCA2:p.W2830* +#158:4364 BRCA2:p.Y2839* +#159:4357 NM_000059.3:c.8550delA +#157:4383 NM_000059.3:c.8575delC +#157:4385 BRCA2:p.E2877* +#157:4386 NM_000059.3:c.8676delA +#158:4371 NM_000059.3:c.8749delC +#157:4389 NM_000059.3:c.8756delG +#159:4366 NM_000059.3:c.8848delAinsCT +#157:4392 NM_000059.3:c.8904delC +#159:4369 BRCA2:p.S2984* +#159:4370 NM_000059.3:c.8954-3C>G +#160:4368 BRCA2:p.W2990* +#159:5418 BRCA2:p.E3002K +#160:4371 NM_000059.3:c.9027delT +#157:4400 NM_000059.3:c.9066_9067insAA +#158:4385 NM_000059.3:c.9097dupA +#159:4378 NM_000059.3:c.9117+1G>T +#157:945 BRCA2:p.R3052W +#160:4378 BRCA2:p.Q3066* +#157:4407 NM_000059.3:c.9256+1G>A +#159:4384 NM_000059.3:c.9275_9278delATTT +#160:4383 BRCA2:p.W31* +#158:4396 BRCA2:p.L3119* +#157:4414 BRCA2:p.W3127* +#158:4399 NM_000059.3:c.9403delC +#159:4392 NM_000059.3:c.9435_9436delGT +#157:4418 BRCA2:p.E3167* +#158:4403 NM_000059.3:c.9513_9516delACTT +#160:4393 BRCA2:p.Q321* +#160:4394 NM_000059.3:c.9676delT +#158:4407 NM_000059.3:c.9699_9702delTATG +#157:4425 BRCA2:p.E3309* +#157:4426 NM_032043.2:c.128_131delTGTT +#160:4400 BRIP1:p.S624* +#158:4413 BRIP1:p.Q827* +#158:4414 NM_005188.3:c.56dupG +#159:4408 NM_004360.3:c.112_136delACGTTCACGGTGCCCCGGCGCCACC +#157:4434 NM_004360.3:c.2064_2065delTG +#160:4408 NM_004360.3:c.2311delC +#158:4421 NM_004360.3:c.377dupC +#158:4423 NM_000077.4:c.120_136delACCGAATAGTTACGGTC +#158:4425 NM_000077.4:c.168delC +#158:4427 NM_000077.4:c.225delC +#158:4429 NM_000077.4:c.253_273delinsT +#157:4447 NM_000077.4:c.330_331delinsAA +#160:4421 NM_000077.4:c.445delG +#157:4451 NM_007194.3:c.1100delC +#158:4436 NM_007194.3:c.247delC +#159:4429 NM_007194.3:c.444+1G>A +#160:4427 NM_005228.3:c.1921_1935delCCTAAGATCCCGTCC +#160:66 EGFR:p.G719A +#158:4442 NM_005228.3:c.2236_2248delinsCAAC +#159:4435 NM_005228.3:c.2236_2257delinsTCTT +#160:4433 NM_005228.3:c.2239_2248delinsC +#158:5255 EGFR:p.D761Y +#157:4465 NM_005228.3:c.2308_2309insTTG +#157:4466 NM_005228.3:c.2314_2319dupCCCCAC +#158:4452 NM_005228.3:c.2573_2574delinsGT +#160:4443 ETV6:p.W380* +#157:4473 EZH2:p.E430* +#159:4451 EZH2:p.C609* +#159:744 FH:p.R343* +#159:4455 NM_000143.3:c.563delA +#160:4453 NM_144997.5:c.1062+2T>G +#158:4466 NM_144997.5:c.17_21delCTCTC +#160:4456 FLCN:p.E328* +#157:2816 HRAS:p.G12C +#157:4487 NM_000222.2:c.1651_1659delCCCATGTAT +#159:4464 NM_000222.2:c.1655_1672delTGTATGAAGTACAGTGGA +#157:4490 NM_000222.2:c.1659_1715delTGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGA +#158:4475 NM_000222.2:c.1663_1689delGTACAGTGGAAGGTTGTTGAGGAGATA +#158:4476 NM_000222.2:c.1668_1679delGTGGAAGGTTGT +#159:4469 NM_000222.2:c.1670_1675delGGAAGG +#160:4467 NM_000222.2:c.1672_1674delAAG +#158:4480 NM_000222.2:c.1676_1684delTTGTTGAGG +#157:4498 NM_000222.2:c.1678_1728delGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTT +#160:4472 NM_000222.2:c.1683_1736delGGAGATAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTATGA +#159:4477 NM_000222.2:c.1716_1736dupCCCAACACAACTTCCTTATGA +#159:5195 KIT:p.L576P +#157:4504 NM_000222.2:c.1739_1740insTATGATCAA +#157:5306 KIT:p.C809G +#157:2830 KIT:p.N822K +#159:4486 MEN1:p.M1V +#158:4496 MEN1:p.E240* +#157:4514 NM_000245.2:c.78dupT +#159:4492 NM_000249.3:c.1039-2A>T +#160:4490 MLH1:p.L40* +#157:1643 MLH1:p.R487* +#160:4493 MLH1:p.E557* +#160:4495 MLH1:p.W597* +#157:4524 NM_000249.3:c.1898_1989+1delAAGGGAACCTGATTGGATTACCCCTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTAGCCACTGAGG +#158:761 MLH1:p.R659* +#160:5240 MLH1:p.G67R +#160:4502 NM_000249.3:c.2103+1G>C +#158:1139 MLH1:p.R100* +#157:4533 NM_000249.3:c.380+1G>A +#159:4510 NM_000249.3:c.460delG +#160:4508 NM_000249.3:c.588+2T>G +#159:4513 MLH1:p.R226L +#160:4511 NM_000249.3:c.747_750delAAAC +#159:4516 NM_000249.3:c.884+4A>G +#158:4526 NM_000251.2:c.1077_1276delATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAG +#160:4516 NM_000251.2:c.1222dupT +#158:4529 NM_000251.2:c.1277-2_1278delinsCC +#160:1548 MSH2:p.E48* +#160:4521 MSH2:p.K537* +#157:4550 NM_000251.2:c.1786_1788delAAT +#157:4552 NM_000251.2:c.1935delA +#157:2410 MSH2:p.R680* +#158:4539 NM_000251.2:c.212-1G>A +#158:4541 NM_000251.2:c.2211-1G>C +#159:793 MSH2:p.Q816* +#159:4536 NM_000251.2:c.2634+5G>T +#159:4537 NM_000251.2:c.513delG +#158:4547 NM_000251.2:c.613_616dupGAGA +#157:4565 NM_000251.2:c.942+2_942+3delTA +#157:4566 NM_000251.2:c.943-1G>A +#158:4552 NM_000179.2:c.1162dupC +#160:4542 MSH6:p.Q572* +#158:4555 MSH6:p.C687* +#157:4573 MSH6:p.Q776* +#158:4559 NM_000179.2:c.2719_2720delGT +#158:4561 NM_000179.2:c.3037_3041delAAGAA +#159:3379 MSH6:p.R1035* +#158:4565 NM_000179.2:c.3173-1G>T +#157:4583 NM_000179.2:c.3261delC +#157:4584 NM_000179.2:c.3312delT +#158:4569 NM_000179.2:c.3473_3476delinsCT +#158:4570 NM_000179.2:c.3514dupA +#158:4572 NM_000179.2:c.3633dupT +#159:4565 NM_000179.2:c.3880dupT +#160:4563 NM_000179.2:c.3962_3966dupGAGAA +#157:4592 MSH6:p.K155* +#160:4566 NM_000179.2:c.652_653delAA +#158:4579 NM_000179.2:c.741delA +#160:4570 NM_001128425.1:c.1101dupC +#160:143 MUTYH:p.R109W +#159:4578 MUTYH:p.E206* +#160:4577 NM_001128425.1:c.933_933+1delAG +#157:4606 NM_002485.4:c.698_701delAACA +#160:2417 NF1:p.R440* +#160:4582 NF1:p.Q519* +#158:4596 NM_001042492.2:c.1882dupT +#159:4590 NM_001042492.2:c.2449dupA +#157:4617 NM_001042492.2:c.3170delC +#158:4603 NM_001042492.2:c.3457_3460delCTCA +#160:4594 NM_001042492.2:c.3731_3749dupTTACTCTGTTTGATTCTCG +#159:4600 NM_001042492.2:c.4084delC +#158:4611 NM_001042492.2:c.4966_4973delACAGACTT +#159:779 NF1:p.Q1891* +#158:4616 NF1:p.Y1948* +#157:4635 NM_001042492.2:c.647delT +#159:4613 NF1:p.Q2302* +#157:4639 NM_001042492.2:c.768dupT +#159:4617 NM_001042492.2:c.7971-1G>T +#160:4616 NM_024675.3:c.1056_1057delGA +#157:4645 NM_024675.3:c.1485delA +#159:4622 NM_024675.3:c.1880_1881delTG +#159:4624 NM_024675.3:c.2167_2168delAT +#157:4650 NM_024675.3:c.2325dupA +#160:4624 NM_024675.3:c.2727_2728delTT +#158:3153 PALB2:p.W1038* +#157:4656 NM_024675.3:c.3295_3310delinsCGTGGT +#160:4630 NM_024675.3:c.509_510delGA +#160:1960 PDGFRA:p.N659K +#158:4645 NM_000535.5:c.1239delA +#160:4636 NM_000535.5:c.149delG +#159:4641 PMS2:p.K614* +#160:4640 PMS2:p.M1V +#157:4669 PMS2:p.R802* +#159:4646 PMS2:p.M1K +#158:4656 PMS2:p.Q205* +#159:3372 PMS2:p.R315* +#157:4676 PTEN:p.Y46* +#160:4650 PTEN:p.E99* +#159:3493 PTEN:p.L146* +#159:5250 PTEN:p.R173C +#157:4685 PTEN:p.Y240* +#157:3326 PTEN:p.W274* +#159:4665 PTEN:p.L320* +#157:4692 NM_058216.1:c.224dupA +#159:4669 NM_058216.1:c.968_1026+2delTGGCAACATTGTACAAGTCACCCAGCCAGAAGGAATGCACAGTACTGTTTCAAATCAAAGT +#160:4667 NM_000321.2:c.1215+63T>G +#158:5281 RET:p.C609Y +#158:1992 RET:p.C620R +#158:2896 RET:p.C634Y +#160:188 RET:p.V804M +#157:4704 NM_001754.4:c.242_245dupTGCT +#157:4706 RUNX1:p.W106* +#157:4708 NM_001754.4:c.400_412delGCTGGCAATGATG +#158:4694 NM_001754.4:c.548dupC +#160:4685 NM_001754.4:c.941_942delCT +#157:4715 SDHA:p.E491* +#159:3350 SDHA:p.R31* +#158:4703 NM_003000.2:c.286+1G>A +#160:4693 NM_003000.2:c.423+1G>A +#159:4698 NM_003001.3:c.97delA +#157:4725 SDHD:p.D92Y +#160:4699 SDHD:p.W105* +#157:4729 SMAD4:p.E390* +#160:4703 NM_005359.5:c.1290_1291insT +#158:4717 SMAD4:p.W101* +#158:4719 SMAD4:p.Q224* +#158:4721 NM_005359.5:c.806_810delCTGGA +#159:4715 NM_001128849.1:c.3638delA +#160:4714 STK11:p.K41* +#157:1497 STK11:p.K84* +#159:4722 STK11:p.E130* +#157:4749 NM_000455.4:c.516dupT +#157:4751 NM_000455.4:c.64delA +#158:4737 NM_000455.4:c.741_775delCATCACCACGGGTCTGTACCCCTTCGAAGGGGACA +#158:1109 STK11:p.R304W +#158:4742 TP53:p.E339* +#159:4736 TP53:p.E343* +#160:4735 TP53:p.Q38* +#159:4740 NM_000546.5:c.184delG +#157:4767 NM_000546.5:c.216dupC +#160:4741 NM_000546.5:c.254delC +#157:4771 NM_000546.5:c.278delT +#158:4757 NM_000546.5:c.293delC +#158:4759 NM_000546.5:c.315delC +#158:4761 NM_000546.5:c.357_364delCAAGTCTG +#159:4755 TP53:p.T125= +#158:4765 NM_000546.5:c.403delT +#159:4759 NM_000546.5:c.423_435delCCCTGTGCAGCTG +#160:4758 NM_000546.5:c.426delT +#158:4772 NM_000546.5:c.450_453dupACCC +#159:4766 NM_000546.5:c.455dupC +#159:4768 NM_000546.5:c.466delC +#160:4767 NM_000546.5:c.485_488delTCTA +#157:4797 TP53:p.Q167* +#158:4783 NM_000546.5:c.532delC +#159:4777 NM_000546.5:c.569_574delinsTTCTT +#157:2382 TP53:p.R196* +#160:3150 TP53:p.E204* +#158:2023 TP53:p.R213Q +#158:4794 TP53:p.E221* +#158:4796 NM_000546.5:c.686_687delGT +#158:4798 NM_000546.5:c.721delT +#159:4792 TP53:p.G244C +#158:2240 TP53:p.M246I +#160:4794 NM_000546.5:c.762_769dupCATCACAC +#157:4824 NM_000546.5:c.775_782+9delGACTCCAGGTCAGGAGC +#157:4826 TP53:p.E271* +#157:4828 NM_000546.5:c.834_841delTGGGAGAG +#160:4803 TP53:p.E287* +#157:4833 TP53:p.K291* +#159:4810 NM_000546.5:c.880delG +#157:4837 NM_000546.5:c.90_91insCCTT +#157:4839 NM_000546.5:c.920-2A>G +#159:4817 NM_000546.5:c.97-1_112delGTCCCCCTTGCCGTCCC +#160:4816 TSC1:p.Q4* +#160:5301 VHL:p.E70K +#157:4846 NM_000551.3:c.463+4C>G +#159:4823 NM_024426.3:c.1109delGinsCC +#159:4825 NM_000038.4:c.1369dupT +#158:4835 APC:p.K975* +#157:4853 BRCA2:p.S1013* +#157:4854 NM_000059.3:c.9171_9172delinsTAGC +#158:4839 MLH1:p.S44F +#157:4857 MUTYH:p.R245H +#159:4834 SMAD4:p.Q256* +#160:4832 TP53:p.K292* +#159:3716 NM_000038.4:c.1203delG +#160:3715 NM_000038.4:c.1307delA +#158:3728 NM_000038.4:c.1380delA +#159:3722 APC:p.E477* +#160:3721 NM_000038.4:c.1537_1538delinsTG +#159:2433 APC:p.Q541* +#160:2447 APC:p.R554* +#158:3739 NM_000038.4:c.1759delA +#157:3758 APC:p.S596* +#158:3744 APC:p.G635* +#157:3762 APC:p.L726* +#159:3740 APC:p.Q767* +#160:440 APC:p.R805* +#157:3769 NM_000038.4:c.2496delC +#158:3755 NM_000038.4:c.2529delTinsATAGG +#159:3749 APC:p.E855* +#157:3776 NM_000038.4:c.271dupA +#159:3754 APC:p.E941* +#159:3756 NM_000038.4:c.2894delA +#158:3767 APC:p.Q1045* +#159:3761 APC:p.Q1095* +#159:1476 APC:p.R1114* +#159:3766 APC:p.Y1147* +#158:3776 NM_000038.4:c.3532_3535delGATT +#157:3794 NM_000038.4:c.3631_3632delAT +#159:3771 NM_000038.4:c.3704_3720delCTGCACAGAGTAGAAGT +#158:3781 NM_000038.4:c.3859delA +#159:3775 APC:p.Q1294* +#159:3777 NM_000038.4:c.3893delC +#159:3779 NM_000038.4:c.3920_3924delTAAAA +#157:3806 APC:p.K1310* +#158:1484 APC:p.Q1338* +#159:3786 NM_000038.4:c.4057_4061delGAATT +#160:3785 NM_000038.4:c.4101_4102delGA +#158:3799 APC:p.Y1376* +#159:1554 APC:p.S1392* +#159:3795 NM_000038.4:c.4209_4218delCTCCGTTCAG +#158:3805 NM_000038.4:c.4240delG +#158:3807 NM_000038.4:c.4283delG +#159:3801 NM_000038.4:c.4319delC +#157:3828 APC:p.E1464* +#160:3802 NM_000038.4:c.4443_4455delTCTTCCAGATGCT +#160:3804 NM_000038.4:c.4479_4480delinsC +#160:3806 NM_000038.4:c.4592delA +#159:3811 NM_000038.4:c.466delG +#158:3821 NM_000038.4:c.4883delA +#159:3814 NM_000038.4:c.543_546delAACA +#158:626 APC:p.R213* +#157:3150 APC:p.R232* +#159:3822 NM_000038.4:c.853delG +#159:2431 APC:p.R332* +#160:3823 ATM:p.M1V +#158:3836 ATM:p.Q852* +#159:3829 ATM:p.Q1171* +#159:3830 NM_000051.3:c.4373delG +#158:3840 NM_000051.3:c.5718_5719delAA +#159:15 ATM:p.E1978* +#159:3835 NM_000051.3:c.7386_7387insA +#157:3861 NM_000051.3:c.7875_7876delinsGC +#158:3846 ATM:p.K2700* +#159:3839 NM_004655.3:c.1987dupT +#160:3837 NM_004329.2:c.1426_1427dupGT +#157:3867 NM_004329.2:c.726delA +#158:3852 NM_007294.3:c.101delC +#159:3846 BRCA1:p.W353* +#157:3872 NM_007294.3:c.1082_1092delCAGAGAATCCT +#157:3873 NM_007294.3:c.1101_1102insC +#159:3850 NM_007294.3:c.112_113delAA +#160:3848 NM_007294.3:c.1165delA +#157:3877 BRCA1:p.S398* +#159:3854 NM_007294.3:c.1240_1246delGACGTTC +#157:3880 BRCA1:p.Y422* +#158:3865 NM_007294.3:c.1299delC +#160:3855 NM_007294.3:c.1323_1324delAT +#157:3884 NM_007294.3:c.1340_1341insG +#157:3885 NM_007294.3:c.134+2T>G +#158:3870 BRCA1:p.S451* +#159:3863 NM_007294.3:c.1386delG +#159:3864 NM_007294.3:c.1390delA +#157:3890 NM_007294.3:c.1421delT +#159:3867 NM_007294.3:c.1440_1441insA +#160:3865 BRCA1:p.G484* +#158:3878 NM_007294.3:c.1501_1504delAAAT +#160:3868 NM_007294.3:c.1508delA +#160:3869 NM_007294.3:c.1523delC +#157:3898 NM_007294.3:c.1556delA +#158:3883 NM_007294.3:c.1608_1611delTAAC +#159:2492 BRCA1:p.Q544* +#158:3886 NM_007294.3:c.1674delA +#159:3879 NM_007294.3:c.1728dupA +#160:3877 NM_007294.3:c.1765delA +#159:3882 BRCA1:p.Q60* +#157:3908 NM_007294.3:c.1812delA +#160:3882 NM_007294.3:c.1823delA +#159:3887 BRCA1:p.E624* +#160:3885 NM_007294.3:c.1898delC +#157:2950 BRCA1:p.C64Y +#160:3888 NM_007294.3:c.1953_1956delGAAA +#160:3889 NM_007294.3:c.1960_1961delAA +#157:3918 NM_007294.3:c.1996delC +#158:3461 BRCA1:p.E673* +#158:3905 BRCA1:p.Q687* +#158:3906 NM_007294.3:c.2077_2078insTA +#160:240 BRCA1:p.R71G +#160:3897 NM_007294.3:c.212+2T>C +#157:3926 NM_007294.3:c.213-12A>G +#158:3911 NM_007294.3:c.2142delT +#157:3929 NM_007294.3:c.2188_2201delGAAAAAGAAGAGAA +#159:3906 NM_007294.3:c.2197_2201delGAGAA +#159:3907 NM_007294.3:c.2206delG +#160:3905 NM_007294.3:c.2214delT +#157:3934 NM_007294.3:c.2241delC +#158:3919 BRCA1:p.E755* +#160:3909 BRCA1:p.E765* +#158:3922 BRCA1:p.S770L +#159:3915 BRCA1:p.Y777* +#160:3913 NM_007294.3:c.2359dupG +#157:3942 NM_007294.3:c.2390_2391delAA +#158:3927 NM_007294.3:c.2405_2406delTG +#160:3917 BRCA1:p.Q81* +#157:3946 NM_007294.3:c.2450delG +#157:3947 NM_007294.3:c.2476delA +#157:3948 NM_007294.3:c.2488_2497dupAAGTATCCAT +#158:3933 BRCA1:p.E849* +#160:3923 NM_007294.3:c.2586_2593delGGTTTCAA +#158:3936 NM_007294.3:c.2612_2613insT +#159:3929 NM_007294.3:c.2637delA +#160:3927 NM_007294.3:c.2670delG +#160:3928 NM_007294.3:c.2685_2686delAA +#160:3929 NM_007294.3:c.2709delT +#158:3942 NM_007294.3:c.2726_2730delATCAA +#159:3935 BRCA1:p.Q910* +#160:3934 NM_007294.3:c.2744_2745delCT +#157:3963 NM_007294.3:c.2764_2767delACAG +#157:3964 NM_007294.3:c.2799delT +#158:3949 NM_007294.3:c.283_286delCTTG +#160:3939 NM_007294.3:c.2840_2841delAA +#158:3952 BRCA1:p.Q957* +#158:3953 NM_007294.3:c.290_291delCA +#159:3946 BRCA1:p.L974* +#157:3972 NM_007294.3:c.2940delA +#158:3957 BRCA1:p.K995* +#158:3958 NM_007294.3:c.3005delA +#159:3951 BRCA1:p.S1007* +#159:3952 NM_007294.3:c.302-2A>T +#160:3950 NM_007294.3:c.3029_3030delCT +#158:3963 NM_007294.3:c.3053_3054insTGAGA +#159:3956 NM_007294.3:c.3108delT +#157:3982 NM_007294.3:c.317delA +#157:3983 NM_007294.3:c.3205delC +#157:3984 NM_007294.3:c.3226delA +#158:3969 NM_007294.3:c.3254_3255dupGA +#158:3971 BRCA1:p.Q1090* +#159:3964 NM_007294.3:c.3292_3293delCT +#160:3962 BRCA1:p.C1103* +#158:3975 NM_007294.3:c.3325_3329delAAAAA +#158:3976 NM_007294.3:c.3331_3334delCAAG +#157:3994 BRCA1:p.E1114* +#158:3979 NM_007294.3:c.3358_3359delGT +#158:3980 NM_007294.3:c.3375_3376delTC +#160:3970 BRCA1:p.L1133* +#158:3983 NM_007294.3:c.3413delG +#160:3973 NM_007294.3:c.3436_3439delTGTT +#160:3974 NM_007294.3:c.3481_3491delGAAGATACTAG +#158:3987 BRCA1:p.Q1182* +#158:3988 NM_007294.3:c.3580delA +#157:2414 BRCA1:p.R1203* +#157:4007 NM_007294.3:c.3629_3630delAG +#158:3992 NM_007294.3:c.3648dupA +#160:3982 NM_007294.3:c.3668_3671dupTTCC +#158:3995 NM_007294.3:c.3699delA +#159:3988 NM_007294.3:c.3710delT +#160:3986 NM_007294.3:c.3736delA +#157:4015 NM_007294.3:c.3759_3760delTA +#157:4016 NM_007294.3:c.3762_3763delGA +#159:3993 NM_007294.3:c.3778_3779insA +#160:3991 NM_007294.3:c.3794delA +#157:4020 NM_007294.3:c.3841_3842delCA +#158:4005 NM_007294.3:c.3862delG +#160:3995 BRCA1:p.S1298* +#159:4000 BRCA1:p.Y130* +#160:3998 NM_007294.3:c.3932delA +#159:4003 BRCA1:p.Q1323* +#160:4001 BRCA1:p.K1338* +#157:4030 NM_007294.3:c.4041_4042delAG +#160:4004 BRCA1:p.Q1359* +#157:4033 NM_007294.3:c.4097-1G>A +#157:4034 NM_007294.3:c.4113delG +#158:4019 NM_007294.3:c.4122_4123delTG +#157:815 BRCA1:p.S1383* +#157:4038 NM_007294.3:c.4165_4166delAG +#158:4023 NM_007294.3:c.4185+1G>T +#160:4013 BRCA1:p.Q1396* +#157:4042 BRCA1:p.E141* +#158:4027 NM_007294.3:c.4251_4252delGT +#157:4045 BRCA1:p.A1438= +#160:4019 NM_007294.3:c.4348delT +#160:4020 NM_007294.3:c.4358-31_4358-27delAAGTA +#158:4033 NM_007294.3:c.4379delG +#160:4023 NM_007294.3:c.4391delC +#159:4028 NM_007294.3:c.442-2A>C +#160:1839 BRCA1:p.R1495K +#159:4031 BRCA1:p.S1496* +#158:4041 NM_007294.3:c.4533_4534delCA +#157:4059 NM_007294.3:c.4574_4575delAA +#160:4033 NM_007294.3:c.4611_4612insG +#159:4038 NM_007294.3:c.4625_4626delCT +#158:4048 NM_007294.3:c.4675+1G>A +#160:4038 BRCA1:p.E1559Q +#158:4051 BRCA1:p.Y1563* +#158:4052 NM_007294.3:c.4749_4750delAG +#157:2396 BRCA1:p.Q1604* +#158:4055 NM_007294.3:c.4936delG +#158:4056 NM_007294.3:c.4945delA +#160:4046 BRCA1:p.E1661* +#160:4047 NM_007294.3:c.4986+4A>T +#158:4060 BRCA1:p.K1667* +#158:4061 NM_007294.3:c.5035_5039delCTAAT +#160:4051 BRCA1:p.Q169* +#157:4080 NM_007294.3:c.5074+3A>G +#160:4054 NM_007294.3:c.5075-1G>A +#157:4083 BRCA1:p.E1694* +#157:1840 BRCA1:p.R1699Q +#159:927 BRCA1:p.A1708E +#160:4060 NM_007294.3:c.5137delG +#159:4065 NM_007294.3:c.514delC +#159:4066 NM_007294.3:c.5152+1G>T +#159:4067 NM_007294.3:c.5153-2delA +#157:4093 NM_007294.3:c.516delA +#159:4070 NM_007294.3:c.5177_5180delGAAA +#160:4068 NM_007294.3:c.5193+3_5193+15delAAGTACTTGATGT +#160:4069 NM_007294.3:c.5194_5277delCATGATTTTGAAGTCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAAGCGAGCAAGAGAATCCCAGGACAGAAAG +#158:4082 NM_007294.3:c.520delC +#157:4100 NM_007294.3:c.5241delA +#159:937 BRCA1:p.R1753T +#158:4087 NM_007294.3:c.5276delA +#159:4080 NM_007294.3:c.5277+1G>A +#160:4078 NM_007294.3:c.5278-2A>G +#157:4107 NM_007294.3:c.5304delC +#157:4108 NM_007294.3:c.5320_5321delAA +#158:4093 NM_007294.3:c.5333-1G>C +#160:4083 BRCA1:p.W1782* +#159:4088 NM_007294.3:c.5386delT +#160:4086 NM_007294.3:c.5407-1G>A +#160:4087 NM_007294.3:c.5417delC +#159:4092 BRCA1:p.E1817* +#159:4093 NM_007294.3:c.5468-1G>A +#159:4094 NM_007294.3:c.547+2T>A +#159:4095 NM_007294.3:c.5498_5511delTGACCCGAGAGTGG +#158:4105 BRCA1:p.W1837* +#157:4123 BRCA1:p.Q1846* +#160:4097 NM_007294.3:c.65delT +#158:4110 NM_007294.3:c.671-1G>T +#158:4111 NM_007294.3:c.68_69delAG +#159:4104 NM_007294.3:c.70_80delTGTCCCATCTG +#160:4102 NM_007294.3:c.775delG +#157:4131 NM_007294.3:c.798_799delTT +#158:4116 NM_007294.3:c.81-1G>A +#160:4106 NM_007294.3:c.815_824dupAGCCATGTGG +#157:4135 NM_007294.3:c.843_846delCTCA +#159:4112 BRCA1:p.E29* +#159:4113 NM_007294.3:c.911delT +#159:4114 NM_007294.3:c.930delG +#157:4140 NM_007294.3:c.954_955insGT +#158:4125 NM_007294.3:c.981_982delAT +#159:4118 NM_000059.3:c.1054dupT +#157:4144 NM_000059.3:c.1138delA +#158:4129 NM_000059.3:c.1189_1190insTTAG +#159:4122 NM_000059.3:c.1231delA +#160:4120 NM_000059.3:c.1265delA +#160:4121 NM_000059.3:c.1296_1297delGA +#157:4150 BRCA2:p.K467* +#160:3447 BRCA2:p.E49* +#157:4153 NM_000059.3:c.151delG +#158:4138 NM_000059.3:c.1597delA +#158:4139 NM_000059.3:c.1654delT +#157:4157 NM_000059.3:c.1705delC +#158:4142 NM_000059.3:c.1755_1759delGAAAA +#159:4135 NM_000059.3:c.1796_1800delCTTAT +#159:4137 BRCA2:p.K607* +#157:4163 NM_000059.3:c.1853_1854insA +#158:4148 NM_000059.3:c.1909+1G>A +#157:4166 BRCA2:p.M1V +#158:4151 NM_000059.3:c.204delA +#160:4141 NM_000059.3:c.2091delA +#157:4170 BRCA2:p.Q742* +#158:4155 NM_000059.3:c.2330dupA +#159:4149 BRCA2:p.Y803* +#157:4175 NM_000059.3:c.2446delG +#158:4160 NM_000059.3:c.2514delA +#157:4178 NM_000059.3:c.2564_2565delCA +#159:4155 NM_000059.3:c.2603delC +#160:4153 NM_000059.3:c.2636_2637delCT +#160:4154 NM_000059.3:c.2684delC +#157:4183 BRCA2:p.Q92* +#157:4184 NM_000059.3:c.2805_2808delTAAA +#158:4169 BRCA2:p.Q940* +#159:4162 NM_000059.3:c.2836_2837delGA +#160:4160 NM_000059.3:c.2930_2940delTGAATATAGAT +#159:4165 BRCA2:p.K100* +#160:4163 BRCA2:p.K1026* +#158:2483 BRCA2:p.L105* +#158:4178 BRCA2:p.Q1056* +#159:2482 BRCA2:p.Q1063* +#158:4181 NM_000059.3:c.3226_3230delGTAGT +#160:4171 BRCA2:p.Q1089* +#157:4200 NM_000059.3:c.3295delT +#157:4202 BRCA2:p.Y1135* +#159:4179 BRCA2:p.E1157* +#160:4177 NM_000059.3:c.3554_3555delCA +#157:4206 NM_000059.3:c.3680_3681delTG +#157:4207 NM_000059.3:c.3696delA +#159:4184 NM_000059.3:c.3717delA +#157:4210 BRCA2:p.S1262* +#159:4187 NM_000059.3:c.3837delT +#159:4188 NM_000059.3:c.3860delA +#157:4214 NM_000059.3:c.3911delC +#159:4191 NM_000059.3:c.3930_3939delTGAAAATTAC +#160:4190 NM_000059.3:c.3950_3953delCTGA +#158:4203 NM_000059.3:c.3975_3978dupTGCT +#159:4196 NM_000059.3:c.4007_4008insCATC +#159:4197 NM_000059.3:c.4043_4044delGT +#159:4198 NM_000059.3:c.4092_4093delAT +#158:4208 BRCA2:p.Q1371* +#159:4201 NM_000059.3:c.4137_4141delGATTA +#160:4199 NM_000059.3:c.4188delA +#158:4212 NM_000059.3:c.4258delG +#159:4205 NM_000059.3:c.4314delC +#160:4203 NM_000059.3:c.4405_4409delGACAT +#157:4232 NM_000059.3:c.4423delA +#157:4233 NM_000059.3:c.4472_4475delTGAA +#159:4210 NM_000059.3:c.4551_4554delAGAA +#160:4208 NM_000059.3:c.4593dupA +#158:4221 NM_000059.3:c.4638delT +#160:4211 NM_000059.3:c.4691dupC +#157:4240 NM_000059.3:c.4731_4736delinsG +#157:4241 NM_000059.3:c.475+2T>C +#159:4218 NM_000059.3:c.4797delT +#160:4216 NM_000059.3:c.4845_4846delCT +#158:4229 NM_000059.3:c.488dupG +#160:4219 NM_000059.3:c.4936_4939delGAAA +#158:4232 NM_000059.3:c.4980_4981insG +#158:4233 NM_000059.3:c.5065_5066delinsAAA +#159:4226 BRCA2:p.E1703* +#159:4227 NM_000059.3:c.5141_5144delATTT +#160:4225 BRCA2:p.S1720* +#157:4254 NM_000059.3:c.517_518delGG +#159:4231 NM_000059.3:c.5213_5216delCTTA +#159:4232 NM_000059.3:c.5217_5224delTTTAAGTA +#160:4230 NM_000059.3:c.5238dupT +#159:4235 NM_000059.3:c.5266_5269delGTAT +#159:4237 BRCA2:p.Y1762* +#160:4235 NM_000059.3:c.5344_5345delCA +#157:4264 NM_000059.3:c.5351dupA +#158:4249 NM_000059.3:c.541delT +#160:4239 NM_000059.3:c.5465dupA +#158:4252 NM_000059.3:c.5542delA +#157:4270 NM_000059.3:c.5577_5580delTAAA +#157:4271 NM_000059.3:c.5609_5610delinsAG +#158:4256 NM_000059.3:c.5631_5634delCAAC +#160:4247 BRCA2:p.Y1894* +#158:4260 NM_000059.3:c.5722_5723delCT +#158:4261 NM_000059.3:c.5771_5774delTTCA +#157:4279 BRCA2:p.Q1931* +#158:4264 BRCA2:p.W194* +#159:4257 NM_000059.3:c.5828delC +#160:4255 NM_000059.3:c.5857delG +#158:4268 NM_000059.3:c.5891delA +#160:4258 NM_000059.3:c.5946_5949delTGGA +#158:4271 NM_000059.3:c.5960delA +#159:4264 NM_000059.3:c.6012_6016delAGATA +#157:4290 BRCA2:p.K2013* +#158:4275 NM_000059.3:c.6068_6072delACCAG +#159:4268 NM_000059.3:c.6079dupA +#159:4269 NM_000059.3:c.610delC +#157:4295 BRCA2:p.G2057* +#157:4296 NM_000059.3:c.6202dupA +#158:4281 NM_000059.3:c.6220_6222delinsAA +#159:4274 NM_000059.3:c.6270_6271delTA +#159:4275 NM_000059.3:c.6282_6289delTTCACCTA +#158:5280 BRCA2:p.V211I +#158:4286 NM_000059.3:c.6325_6326delGT +#158:4287 NM_000059.3:c.635_636delGA +#159:4280 BRCA2:p.K2128* +#160:4278 NM_000059.3:c.63delA +#160:4279 NM_000059.3:c.6434delA +#160:4280 NM_000059.3:c.6445_6446delinsTTAA +#157:4309 BRCA2:p.Y2154* +#158:4294 NM_000059.3:c.6494delT +#159:4287 NM_000059.3:c.6534_6535insA +#158:4297 NM_000059.3:c.658_659delGT +#158:4298 NM_000059.3:c.6603_6604delTG +#158:4299 NM_000059.3:c.6638delC +#159:4292 BRCA2:p.Y2215* +#160:4290 NM_000059.3:c.6673delA +#157:4319 NM_000059.3:c.67+1G>A +#157:4320 NM_000059.3:c.6743_6755delATGCCACACATTC +#158:4305 BRCA2:p.C2256* +#159:4298 NM_000059.3:c.6819delAinsGT +#160:4296 NM_000059.3:c.68_69delAT +#157:4325 NM_000059.3:c.6941delC +#158:4310 NM_000059.3:c.6990_6994delTACCT +#159:5265 BRCA2:p.R2336P +#158:4313 NM_000059.3:c.7008-2A>T +#160:4303 BRCA2:p.Q2354* +#158:4316 BRCA2:p.S2378* +#159:4309 NM_000059.3:c.71_96delTAGGACCAATAAGTCTTAATTGGTTT +#159:4310 NM_000059.3:c.7227_7228insC +#157:4336 NM_000059.3:c.729_732delTGAT +#158:4321 NM_000059.3:c.7362_7365dupTCAT +#159:4314 NM_000059.3:c.7414_7415delAA +#160:4312 BRCA2:p.Q2491* +#157:4341 NM_000059.3:c.7543delA +#160:4315 NM_000059.3:c.755delA +#160:4316 NM_000059.3:c.7575delA +#160:4317 NM_000059.3:c.7617+1G>A +#157:4346 BRCA2:p.C2549* +#157:4347 NM_000059.3:c.767_768delCA +#158:4332 NM_000059.3:c.771_775delTCAAA +#158:4334 BRCA2:p.Q2580* +#160:4324 NM_000059.3:c.7762_7764delinsTT +#160:4325 NM_000059.3:c.7805+1G>A +#160:4326 NM_000059.3:c.7806-2A>G +#159:4331 BRCA2:p.W2626* +#159:4333 BRCA2:p.C2636* +#159:4334 NM_000059.3:c.793+1G>C +#159:2575 BRCA2:p.Q2655* +#159:4337 NM_000059.3:c.7977-1G>C +#157:4363 NM_000059.3:c.79dupA +#157:4365 NM_000059.3:c.8029delG +#159:4342 NM_000059.3:c.8067delT +#157:4368 NM_000059.3:c.8087delT +#160:4342 BRCA2:p.Q2714* +#160:4344 BRCA2:p.L2740* +#160:4345 NM_000059.3:c.8297delC +#158:4358 NM_000059.3:c.8340_8343delTAAC +#158:4359 NM_000059.3:c.8400_8402delinsAAAA +#158:4361 BRCA2:p.Q2829* +#157:4379 NM_000059.3:c.8501delC +#160:4353 NM_000059.3:c.8535_8538delAGAG +#160:4354 NM_000059.3:c.8560delT +#159:4359 NM_000059.3:c.8578_8579delAA +#158:4369 NM_000059.3:c.8633-2A>G +#159:4362 BRCA2:p.Q2894* +#160:4360 NM_000059.3:c.8754+1G>A +#159:4365 BRCA2:p.E2924* +#157:4391 BRCA2:p.Q2957* +#158:4376 NM_000059.3:c.8912delA +#160:4366 NM_000059.3:c.8953+1G>T +#160:4367 NM_000059.3:c.8954-5A>G +#158:4380 NM_000059.3:c.8980_8983delTCAG +#160:4370 NM_000059.3:c.9016_9017delTA +#158:4383 BRCA2:p.S3014* +#158:4384 NM_000059.3:c.9069_9076delTAACATAC +#159:4377 NM_000059.3:c.9099_9100delTC +#157:4403 BRCA2:p.P3039= +#159:4380 NM_000059.3:c.9157delG +#158:4390 BRCA2:p.C3069* +#159:4383 BRCA2:p.G3086* +#157:4409 BRCA2:p.Y3092* +#157:4411 NM_000059.3:c.930_931delAT +#159:4388 NM_000059.3:c.9360delT +#159:4390 BRCA2:p.R3128* +#159:4391 NM_000059.3:c.9408delT +#160:4389 NM_000059.3:c.9455_9456delAG +#159:4394 BRCA2:p.E3167= +#159:4395 NM_000059.3:c.956dupA +#157:4421 NM_000059.3:c.9649-2A>G +#158:4406 BRCA2:p.Q3227* +#159:4399 NM_000059.3:c.9868delG +#158:4409 NM_000059.3:c.993_994delAA +#159:4402 BRIP1:p.E45* +#157:4428 NM_032043.2:c.2038_2039dupTT +#159:4405 NM_032043.2:c.2519dupG +#157:4431 CBL:p.R246* +#157:4433 NM_004360.3:c.1212delC +#158:4418 NM_004360.3:c.2100delT +#157:4436 NM_004360.3:c.2398delC +#160:4410 NM_004360.3:c.382delC +#160:52 CDKN2A:p.Q50* +#158:1362 CDKN2A:p.R58* +#160:4416 NM_000077.4:c.227_228insG +#160:4418 CDKN2A:p.E88* +#158:4431 NM_000077.4:c.346delG +#159:3304 CDKN2A:p.W15* +#158:4435 NM_007194.3:c.1263delT +#159:4428 NM_007194.3:c.277delT +#160:4426 NM_007194.3:c.591delA +#157:4455 NM_005228.3:c.1923_1931delTAAGATCCC +#157:4457 NM_005228.3:c.2235_2248delinsAGAAC +#159:4434 NM_005228.3:c.2236_2250delGAATTAAGAGAAGCA +#160:4432 NM_005228.3:c.2237_2251delAATTAAGAGAAGCAA +#157:4461 NM_005228.3:c.2239_2256delTTAAGAGAAGCAACATCT +#158:4447 NM_005228.3:c.2300_2308dupCCAGCGTGG +#158:4449 NM_005228.3:c.2309_2310insGTT +#159:4442 NM_005228.3:c.2317_2319dupCAC +#159:2710 EGFR:p.L858R +#158:4455 NM_001987.4:c.1186dupA +#160:4446 EZH2:p.K496* +#158:4460 EZH2:p.R63* +#159:4454 NM_000143.3:c.1082delA +#157:4480 FH:p.R233H +#157:4481 NM_144997.5:c.1285dupC +#160:4455 FLCN:p.Q167* +#157:4484 NM_032638.4:c.437delG +#158:4470 NM_000222.2:c.1504_1509dupGCCTAT +#159:4463 NM_000222.2:c.1653_1661delCATGTATGA +#160:4461 NM_000222.2:c.1655_1714delTGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAG +#158:4474 NM_000222.2:c.1660_1707delGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTT +#159:4467 NM_000222.2:c.1663_1701delGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAAT +#160:4465 NM_000222.2:c.1669_1674delTGGAAG +#160:4466 NM_000222.2:c.1671_1679delGAAGGTTGT +#158:4479 NM_000222.2:c.1673_1693delAGGTTGTTGAGGAGATAAATG +#159:4472 NM_000222.2:c.1676_1716delinsGA +#159:4474 NM_000222.2:c.1679_1681delTTG +#157:4500 NM_000222.2:c.1689_1733delAAATGGAAACAATTATGTTTACATAGACCCAACACAACTTCCTTA +#160:4474 NM_000222.2:c.1717_1740dupCCAACACAACTTCCTTATGATCAC +#158:4487 NM_000222.2:c.1735_1737delGAT +#157:5305 KIT:p.K642E +#160:5264 KIT:p.D816H +#157:4509 MEN1:p.R420* +#160:4483 NM_000244.3:c.202_206dupGCCCC +#159:4488 NM_000245.2:c.3021_3028+4delTCCAGAAGGTAT +#160:4487 MET:p.Q272* +#160:4489 NM_000249.3:c.1162dupT +#157:4518 NM_000249.3:c.1325_1346delinsATTTT +#160:4492 MLH1:p.E512* +#157:4521 NM_000249.3:c.1731+1G>A +#158:4507 NM_000249.3:c.1837dupG +#158:4508 NM_000249.3:c.193_200delinsTCA +#159:4502 MLH1:p.E663D +#159:4504 MLH1:p.K678* +#157:4530 NM_000249.3:c.210delA +#157:4532 MLH1:p.E102D +#158:4517 NM_000249.3:c.381-2A>G +#160:4507 NM_000249.3:c.469delT +#157:4536 NM_000249.3:c.673dupA +#160:4510 NM_000249.3:c.678-1G>A +#158:4523 NM_000249.3:c.791-1G>A +#157:4541 MLH1:p.Q328* +#159:4518 NM_000251.2:c.1151dupT +#158:4528 MSH2:p.Y408* +#159:4521 NM_000251.2:c.1278_1386+1delAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG +#158:4531 MSH2:p.S494* +#158:4533 MSH2:p.S554T +#160:4523 MSH2:p.Q601* +#159:4528 MSH2:p.Q662* +#158:4538 MSH2:p.G692V +#157:2593 MSH2:p.R711* +#157:670 MSH2:p.S743* +#158:4543 NM_000251.2:c.2502_2508delTAATTTC +#160:4533 NM_000251.2:c.388_389delCA +#157:4562 MSH2:p.G174* +#159:4539 NM_000251.2:c.745_746delAA +#158:4549 NM_000251.2:c.942+2_942+4delTAA +#160:4539 MSH2:p.C333Y +#159:4544 NM_000179.2:c.1372dupC +#157:4570 NM_000179.2:c.1784delT +#159:4547 NM_000179.2:c.2150_2153delTCAG +#159:4549 NM_000179.2:c.2504delA +#157:4576 MSH6:p.R911* +#160:4550 NM_000179.2:c.3056_3057delTA +#160:3333 MSH6:p.Q1048* +#160:4554 MSH6:p.R1068* +#158:4567 NM_000179.2:c.3261dupC +#159:4560 NM_000179.2:c.3312dupT +#159:4561 NM_000179.2:c.3476dupA +#160:4559 NM_000179.2:c.3524_3540delinsTT +#160:4561 NM_000179.2:c.3794delG +#160:4562 NM_000179.2:c.3934_3937dupGTTA +#157:4591 NM_000179.2:c.3984_3987dupGTCA +#159:4568 MSH6:p.S156* +#158:4578 MSH6:p.K218* +#160:4568 NM_000179.2:c.936delG +#158:1949 MUTYH:p.G396D +#160:4573 MUTYH:p.W156* +#157:4603 MUTYH:p.R247* +#158:4589 NM_001128425.1:c.934-2A>G +#158:4590 NM_002485.4:c.808_809delGT +#159:4584 NM_001042492.2:c.1370_1371delAC +#159:4586 NF1:p.Q535* +#160:4585 NM_001042492.2:c.2033delC +#158:4599 NF1:p.W837* +#160:4590 NF1:p.Q11* +#160:4592 NF1:p.Q1174* +#158:640 NF1:p.R1276* +#158:4609 NF1:p.E1436* +#157:4628 NF1:p.W1685* +#160:4603 NF1:p.E1928* +#160:584 NF1:p.R1968* +#158:1508 NF1:p.R2258* +#157:4638 NM_001042492.2:c.7188delA +#160:4612 NF1:p.G26* +#158:4626 NF1:p.Q2673* +#157:4644 NM_024675.3:c.1059delA +#159:4621 NM_024675.3:c.1592delT +#157:4647 NM_024675.3:c.2052delC +#157:4649 PALB2:p.L731* +#159:1346 PALB2:p.G796* +#157:4652 NM_024675.3:c.2749-1G>C +#159:4630 NM_024675.3:c.3116delA +#160:1346 PALB2:p.Y1183* +#157:4658 NM_024675.3:c.827dupA +#158:5207 PDGFRA:p.D842V +#160:4634 NM_000535.5:c.1239dupA +#158:4648 NM_000535.5:c.163+1G>A +#157:4666 PMS2:p.L625* +#157:4668 NM_000535.5:c.211_214delAATG +#158:4653 NM_000535.5:c.24-12_107delinsAAAT +#157:4671 NM_000535.5:c.427delA +#160:4645 NM_000535.5:c.736_741delinsTGTGTGTGAAG +#159:4650 PTCH1:p.G876* +#158:4660 NM_000314.4:c.163delA +#158:4662 NM_000314.4:c.306delA +#159:4656 NM_000314.4:c.47dupA +#160:4655 NM_000314.4:c.635-1G>A +#159:4661 NM_000314.4:c.800delA +#160:4660 NM_000314.4:c.867delA +#157:4690 NM_000314.4:c.987_990delTAAA +#158:4676 NM_058216.1:c.571+1delG +#160:4666 NM_002878.3:c.363delA +#157:4695 NM_000321.2:c.1893delA +#160:4669 RET:p.C618Y +#160:4671 RET:p.C620G +#160:4673 RET:p.C634F +#157:2898 RET:p.V804L +#159:4680 NM_001754.4:c.245_246delinsCAC +#159:4682 NM_001754.4:c.366_367dupGG +#158:1998 RUNX1:p.Y140* +#157:1095 RUNX1:p.R201* +#158:4697 NM_001754.4:c.943_950delGCAGAACT +#160:4688 SDHA:p.M1V +#159:2902 SDHB:p.R46Q +#159:4695 NM_003000.2:c.286+2T>A +#158:4705 SDHB:p.P197R +#158:4707 SDHD:p.Q36* +#158:4709 NM_003002.2:c.278_280dupATT +#159:4703 SDHD:p.C11* +#159:4705 NM_005359.5:c.1207dupA +#158:4715 SMAD4:p.Q442* +#160:4706 NM_005359.5:c.38_57delATGATGCCTGTCTGAGCATT +#160:4708 NM_005359.5:c.692dupG +#160:4710 NM_005359.5:c.971_977delGTTCCAT +#160:4712 NM_000455.4:c.1010_1011delTG +#158:4726 NM_000455.4:c.130_131insT +#157:4745 STK11:p.R86* +#157:4747 NM_000455.4:c.446dupC +#159:4725 NM_000455.4:c.563delG +#160:4724 STK11:p.Q220* +#157:4754 STK11:p.E256* +#157:4756 NM_000546.5:c.1005delT +#160:4731 NM_000546.5:c.1023_1024delinsGT +#157:4761 NM_000546.5:c.102delC +#157:4763 NM_000546.5:c.1146delA +#158:4749 TP53:p.E62* +#159:4743 NM_000546.5:c.227_279delCACCAGCAGCTCCTACACCGGCGGCCCCTGCACCAGCCCCCTCCTGGCCCCTG +#158:4753 NM_000546.5:c.267delC +#160:4744 TP53:p.S94* +#157:4774 TP53:p.Q100* +#160:4748 NM_000546.5:c.320dupA +#160:4750 NM_000546.5:c.359delA +#157:4780 NM_000546.5:c.376-2A>G +#160:4754 NM_000546.5:c.403dupT +#158:4768 TP53:p.C141* +#159:4762 TP53:p.Q144* +#160:4761 NM_000546.5:c.454_466delCCGCCCGGCACCC +#157:4791 NM_000546.5:c.459_460insT +#157:5323 TP53:p.V157F +#158:4779 NM_000546.5:c.486_489delinsAAAAAAAAAAAAAA +#159:4773 NM_000546.5:c.510_511delinsTT +#158:217 TP53:p.R181H +#157:4802 TP53:p.Q192* +#158:4788 NM_000546.5:c.591_592delinsTT +#160:4779 NM_000546.5:c.618_619delinsT +#159:4784 NM_000546.5:c.652_658delGTGCCCT +#160:4783 NM_000546.5:c.669dupT +#160:4785 NM_000546.5:c.686delG +#160:4787 NM_000546.5:c.723delC +#158:5298 TP53:p.G245S +#157:5248 TP53:p.R248W +#158:4806 NM_000546.5:c.763_764delAT +#158:4808 NM_000546.5:c.795_796delinsTT +#160:5206 TP53:p.R273H +#158:5384 TP53:p.R282W +#158:4815 NM_000546.5:c.862_869delAATCTCCG +#159:4809 NM_000546.5:c.873_874delinsAT +#158:4819 TP53:p.E294* +#157:2390 TP53:p.R306* +#160:4812 TP53:p.Q317* +#157:4842 NM_000546.5:c.972_992delinsAG +#157:4844 NM_000368.4:c.2341_2360dupCAGCTGCAGCATGACCGAGA +#158:4829 NM_000551.3:c.343_463+2delCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGT +#158:4830 NM_000551.3:c.464_642delTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGA +#160:4820 NM_024426.3:c.1147_1150dupTCTG +#157:4850 APC:p.S457* +#160:4824 APC:p.K980* +#158:4837 NM_000059.3:c.4576dupA +#158:4838 NM_000077.4:c.180_181insCTCG +#160:4828 MLH1:p.Q146* +#158:4841 NM_024675.3:c.1037_1041delAAGAA +#160:4831 NM_000455.4:c.150delG +#157:4860 NM_000546.5:c.93delT +#159:1531 APC:p.R405* +#158:3727 NM_000038.4:c.1312+1G>A +#160:3717 NM_000038.4:c.1409-2delA +#158:3731 APC:p.C483* +#157:3749 NM_000038.4:c.1582_1585delGCAC +#157:3751 NM_000038.4:c.1647dupG +#157:576 APC:p.R564* +#157:3756 APC:p.L592* +#159:3734 NM_000038.4:c.1860_1867dupTACTTACC +#160:3733 NM_000038.4:c.1916delT +#159:3738 NM_000038.4:c.2227_2228delAT +#157:3765 NM_000038.4:c.2321delA +#157:440 APC:p.S811* +#158:2432 APC:p.S837* +#160:3744 APC:p.E847* +#157:3774 NM_000038.4:c.2570delG +#159:3752 NM_000038.4:c.2763_2767dupACTTA +#157:3779 NM_000038.4:c.2824_2827delAATT +#158:3765 APC:p.Q978* +#160:2469 APC:p.W1049* +#158:3770 APC:p.C110* +#159:3764 NM_000038.4:c.3344delT +#160:3763 NM_000038.4:c.3447delA +#157:3793 APC:p.L1181* +#159:3770 NM_000038.4:c.3631delA +#157:3796 NM_000038.4:c.3733_3734delAA +#157:3798 APC:p.G1288* +#157:3800 NM_000038.4:c.3883delG +#157:3802 NM_000038.4:c.3902_3906delinsTCTC +#160:2722 APC:p.I1307K +#159:3782 NM_000038.4:c.3944_3964delCAGCTGAAGATCCTGTGAGCG +#158:3793 NM_000038.4:c.4044_4060delinsCTA +#157:3811 NM_000038.4:c.4060_4076delTTTTCTTCAGGAGCGAA +#158:3797 NM_000038.4:c.4107dupC +#160:3788 NM_000038.4:c.4133dupA +#157:3818 APC:p.S1400* +#157:3820 NM_000038.4:c.423-1G>A +#160:3794 NM_000038.4:c.4241dupT +#160:1528 APC:p.Q1429* +#157:3826 NM_000038.4:c.4333delA +#159:3804 NM_000038.4:c.4393_4394delAG +#158:3814 NM_000038.4:c.4463delT +#157:3832 NM_000038.4:c.4497delA +#158:3818 NM_000038.4:c.4612_4613delGA +#157:1576 APC:p.Q161* +#160:3810 NM_000038.4:c.509_512delATAG +#158:3823 APC:p.E190* +#160:439 APC:p.R216* +#159:3820 APC:p.S254* +#158:3831 APC:p.E287* +#159:3825 NM_000038.4:c.995delG +#158:3835 ATM:p.K750= +#159:3828 NM_000051.3:c.2839-1G>A +#160:3826 NM_000051.3:c.3626_3627delTT +#159:1562 ATM:p.R1466* +#160:3829 ATM:p.S1924* +#159:3834 ATM:p.E2052K +#160:3832 NM_000051.3:c.7638_7646delTAGAATTTC +#158:3845 NM_000051.3:c.790delT +#160:3835 ATM:p.K2756* +#160:3836 NM_004656.2:c.320delA +#158:3849 NM_004329.2:c.1464_1473delCAGTGATGAA +#159:3843 NM_007294.3:c.1016delA +#160:3841 BRCA1:p.C348* +#158:3855 BRCA1:p.Q356* +#158:3856 NM_007294.3:c.1086_1087delGA +#159:3849 BRCA1:p.E368* +#160:3847 NM_007294.3:c.1121delC +#157:3876 NM_007294.3:c.1166delG +#158:3861 NM_007294.3:c.1204delG +#160:3851 NM_007294.3:c.124delA +#158:3864 NM_007294.3:c.1276delT +#160:3854 NM_007294.3:c.130delT +#157:3883 NM_007294.3:c.133_134+3delinsT +#158:3868 NM_007294.3:c.134+1G>C +#158:3869 NM_007294.3:c.135-1G>C +#160:3859 NM_007294.3:c.1356delA +#160:3860 NM_007294.3:c.1387_1390delinsGAAAG +#160:3861 NM_007294.3:c.1396delC +#160:3422 BRCA1:p.L474* +#160:3864 NM_007294.3:c.1444_1447delATTA +#158:3877 BRCA1:p.Q491* +#160:3867 BRCA1:p.K501* +#157:3896 NM_007294.3:c.150delA +#158:3881 BRCA1:p.S510* +#158:3882 NM_007294.3:c.1561_1562delinsTA +#160:3872 BRCA1:p.Q54* +#159:3877 NM_007294.3:c.1636_1654delATGAATATTACTAATAGTG +#160:3875 BRCA1:p.Q563* +#160:3876 NM_007294.3:c.1729_1730delGA +#158:3889 BRCA1:p.S59* +#157:3907 BRCA1:p.L598* +#159:3884 BRCA1:p.K607* +#158:3894 NM_007294.3:c.1826delA +#160:3884 NM_007294.3:c.1881_1884delCAGT +#157:3913 NM_007294.3:c.1912delG +#160:3887 NM_007294.3:c.1929_1930delinsA +#157:3916 NM_007294.3:c.1953dupG +#158:3901 BRCA1:p.K654* +#160:838 BRCA1:p.Q667* +#157:3920 NM_007294.3:c.2019delA +#159:3897 NM_007294.3:c.2070_2071delAA +#159:3898 NM_007294.3:c.2079_2080delCA +#157:3924 NM_007294.3:c.212+1G>A +#157:3925 NM_007294.3:c.2125_2126insA +#158:3910 NM_007294.3:c.213-1G>A +#160:3900 BRCA1:p.E717* +#158:3913 NM_007294.3:c.2188dupG +#160:3903 NM_007294.3:c.2199delG +#157:3932 BRCA1:p.Q74* +#157:3933 NM_007294.3:c.2215_2216insCT +#158:3918 NM_007294.3:c.224_227delAAAG +#159:3911 NM_007294.3:c.2269delG +#157:3937 NM_007294.3:c.2296_2297delAG +#159:3914 NM_007294.3:c.2314delG +#160:3912 NM_007294.3:c.2337_2338delTC +#157:3941 NM_007294.3:c.2376delG +#158:3926 NM_007294.3:c.2393delC +#159:3919 NM_007294.3:c.2406_2409delGAGT +#157:3945 NM_007294.3:c.2433delC +#158:3930 NM_007294.3:c.2457delC +#158:3931 NM_007294.3:c.2477_2478delCA +#158:3932 NM_007294.3:c.2513delA +#159:3925 NM_007294.3:c.2560_2561dupGC +#157:3951 NM_007294.3:c.2594delA +#159:3928 NM_007294.3:c.2612delCinsTT +#157:3954 BRCA1:p.E881* +#157:3955 NM_007294.3:c.2675_2678delTAAA +#157:3956 NM_007294.3:c.2686delA +#158:1563 BRCA1:p.E904* +#159:3934 NM_007294.3:c.2726delA +#157:3960 NM_007294.3:c.2739_2740delTG +#157:3962 NM_007294.3:c.2745_2751dupTAATATC +#158:3947 NM_007294.3:c.2766delA +#158:718 BRCA1:p.Q934* +#157:3966 BRCA1:p.C944* +#158:3951 BRCA1:p.S955* +#159:3944 NM_007294.3:c.2871_2872insA +#159:3945 NM_007294.3:c.2910delA +#157:3971 BRCA1:p.Q975* +#158:3956 NM_007294.3:c.2952delT +#159:3949 NM_007294.3:c.2989_2990dupAA +#159:3950 NM_007294.3:c.3008_3009delTT +#160:3948 NM_007294.3:c.302-1G>A +#160:3949 NM_007294.3:c.302-2delA +#158:3962 BRCA1:p.Y101* +#159:3955 NM_007294.3:c.3084_3094delTAATAACATTA +#157:3981 BRCA1:p.E1038* +#158:3966 NM_007294.3:c.3181delA +#158:3967 NM_007294.3:c.321_322delinsC +#158:3968 NM_007294.3:c.3228_3229delAG +#159:3961 NM_007294.3:c.3255_3261delATTAGGG +#160:3960 BRCA1:p.Q1096* +#160:3961 NM_007294.3:c.329_330delAG +#157:3990 NM_007294.3:c.3318_3361delTGAAATAAAAAAGCAAGAATATGAAGAAGTAGTTCAGACTGTTA +#159:3967 NM_007294.3:c.3326_3329delAAAA +#160:3965 BRCA1:p.Q1111* +#158:3978 NM_007294.3:c.3342_3345delAGAA +#159:3971 NM_007294.3:c.3359_3360delTT +#160:3969 BRCA1:p.S1130* +#158:3982 BRCA1:p.E1134* +#160:3972 NM_007294.3:c.3417delT +#157:4001 NM_007294.3:c.3442delG +#157:4002 NM_007294.3:c.3485delA +#159:3979 NM_007294.3:c.3548_3549delAA +#159:3980 NM_007294.3:c.3583delC +#157:4006 NM_007294.3:c.3612delA +#158:3991 NM_007294.3:c.3633delC +#159:3984 NM_007294.3:c.3649_3650insA +#157:4010 NM_007294.3:c.3676_3679delTTCC +#159:3987 NM_007294.3:c.3700_3704delGTAAA +#160:3985 NM_007294.3:c.3715_3717delinsC +#157:4014 NM_007294.3:c.37_40delAATG +#158:3999 NM_007294.3:c.3759dupT +#158:4000 NM_007294.3:c.3770_3771delAG +#160:3990 NM_007294.3:c.3779delT +#158:4003 BRCA1:p.Q1273* +#159:1717 BRCA1:p.Q1281* +#159:3997 NM_007294.3:c.3867_3871delAAAAT +#158:4007 BRCA1:p.Q1299* +#160:3997 NM_007294.3:c.3916_3917delTT +#158:4010 BRCA1:p.Q1313* +#160:4000 NM_007294.3:c.3972delG +#158:4013 BRCA1:p.E1339* +#159:4006 BRCA1:p.E1352* +#157:4032 NM_007294.3:c.4085delA +#158:4017 NM_007294.3:c.4097-2A>G +#158:4018 NM_007294.3:c.4116_4117delTG +#160:4008 BRCA1:p.E1375* +#157:798 BRCA1:p.Q139* +#158:4022 NM_007294.3:c.4167_4168insAG +#159:4015 NM_007294.3:c.4185+2_4185+22delinsA +#157:4041 NM_007294.3:c.4195_4196delAC +#158:2485 BRCA1:p.Q1408* +#160:4016 BRCA1:p.Q1420* +#157:241 BRCA1:p.R1443* +#157:4047 NM_007294.3:c.4357+1G>A +#158:4032 BRCA1:p.S1457* +#157:4050 BRCA1:p.Y1463* +#160:1143 BRCA1:p.Q1467* +#157:4053 BRCA1:p.E1494* +#159:2046 BRCA1:p.R1495M +#158:731 BRCA1:p.S1503* +#160:4030 BRCA1:p.Q1518* +#159:4035 NM_007294.3:c.4595_4596insCT +#160:1599 BRCA1:p.Q1538* +#160:4035 NM_007294.3:c.4655_4658delACTT +#159:4040 NM_007294.3:c.4675+1G>T +#157:4066 NM_007294.3:c.4676-1G>A +#159:4043 NM_007294.3:c.470_471delCT +#159:4044 NM_007294.3:c.4754_4755delCA +#157:4070 NM_007294.3:c.485_486delTG +#159:4047 NM_007294.3:c.493delC +#159:4048 NM_007294.3:c.494dupT +#157:4074 NM_007294.3:c.4986+1G>A +#157:4075 NM_007294.3:c.4986+6T>C +#159:4052 NM_007294.3:c.5005delG +#159:4053 NM_007294.3:c.5035delC +#158:4063 NM_007294.3:c.5074+1G>A +#157:1832 BRCA1:p.D1692N +#157:4082 NM_007294.3:c.5075-1G>C +#158:4067 NM_007294.3:c.5084_5085delTT +#157:4085 NM_007294.3:c.5102_5103delTG +#159:4062 NM_007294.3:c.5126delG +#160:1841 BRCA1:p.S1715N +#160:4062 NM_007294.3:c.5150delT +#160:4063 NM_007294.3:c.5152+3A>C +#157:4092 BRCA1:p.W1718* +#158:4077 NM_007294.3:c.5172dupA +#157:4095 BRCA1:p.K1727* +#157:4096 NM_007294.3:c.5194-12G>A +#159:1843 BRCA1:p.V1736A +#158:2738 BRCA1:p.G1738R +#158:4084 NM_007294.3:c.5243delG +#157:4102 NM_007294.3:c.5259delA +#159:4079 NM_007294.3:c.5277+1_5277+6delGTAAAG +#157:4105 BRCA1:p.K1759= +#157:4106 NM_007294.3:c.5284delA +#158:4091 NM_007294.3:c.5310delG +#160:934 BRCA1:p.M1775K +#159:4085 NM_007294.3:c.5333-1G>T +#159:4087 BRCA1:p.Q1785* +#157:4113 BRCA1:p.S1796* +#157:4114 NM_007294.3:c.5407-1G>C +#157:4115 NM_007294.3:c.5419delA +#160:4089 NM_007294.3:c.5467+1G>A +#160:4090 NM_007294.3:c.5470_5477delATTGGGCA +#160:4091 NM_007294.3:c.5490delA +#160:4092 NM_007294.3:c.5503_5564delCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGAT +#160:4094 NM_007294.3:c.5512delG +#159:4099 BRCA1:p.C1847* +#158:4109 BRCA1:p.K222* +#159:4102 NM_007294.3:c.671-2A>C +#160:4100 NM_007294.3:c.697_698delGT +#160:4101 NM_007294.3:c.731delA +#158:4114 BRCA1:p.Y261* +#159:4107 BRCA1:p.S267* +#159:4108 NM_007294.3:c.81-2A>G +#158:4118 BRCA1:p.C274* +#158:4119 NM_007294.3:c.844_850dupTCATTAC +#160:4109 NM_007294.3:c.882delA +#160:4110 NM_007294.3:c.922_923delAG +#160:4111 NM_007294.3:c.949_953delCAACA +#159:4116 BRCA1:p.W321* +#159:4117 NM_007294.3:c.984_985insC +#157:4143 BRCA2:p.L366* +#158:4128 NM_000059.3:c.1147delA +#160:4118 BRCA2:p.S401* +#160:4119 NM_000059.3:c.1238delT +#157:4148 NM_000059.3:c.1278delA +#157:4149 NM_000059.3:c.1307delA +#159:4126 BRCA2:p.E471* +#158:4136 NM_000059.3:c.1483dupG +#160:2554 BRCA2:p.E510* +#159:4130 NM_000059.3:c.1599_1600delTG +#160:4128 BRCA2:p.L557* +#158:4141 NM_000059.3:c.17_18delAA +#159:4134 NM_000059.3:c.1763_1766delATAA +#157:4160 BRCA2:p.Y600* +#157:4162 BRCA2:p.Q609* +#158:4147 NM_000059.3:c.1854delCinsAA +#159:4140 NM_000059.3:c.190delA +#159:4142 NM_000059.3:c.2026delT +#159:4143 NM_000059.3:c.2059_2063delGATTA +#157:4169 NM_000059.3:c.2092delC +#158:4154 NM_000059.3:c.2254_2257delGACT +#160:4144 BRCA2:p.S780* +#157:4174 BRCA2:p.L809* +#158:4159 NM_000059.3:c.2450delA +#157:4177 BRCA2:p.Y839* +#158:4162 NM_000059.3:c.2586_2592delAAATCAA +#157:4180 BRCA2:p.S871* +#157:4181 NM_000059.3:c.263delT +#157:4182 NM_000059.3:c.26delC +#158:4167 NM_000059.3:c.2760delC +#158:4168 NM_000059.3:c.2808_2811delACAA +#158:3348 BRCA2:p.K944* +#160:4159 NM_000059.3:c.2836delG +#157:4188 NM_000059.3:c.2956_2957insG +#160:4162 NM_000059.3:c.3051delC +#158:4175 BRCA2:p.E1035* +#158:4177 BRCA2:p.L1053* +#160:4167 NM_000059.3:c.3167_3170delAAAA +#159:4172 NM_000059.3:c.3189_3192delGTCA +#159:4173 NM_000059.3:c.3228_3229delAG +#157:4199 NM_000059.3:c.3269delT +#159:4176 BRCA2:p.Q1107* +#158:4186 NM_000059.3:c.3442delC +#160:4176 NM_000059.3:c.3497delT +#157:4205 NM_000059.3:c.3570delG +#158:4190 NM_000059.3:c.3682_3685delAATG +#158:4191 NM_000059.3:c.36delT +#160:4181 NM_000059.3:c.3737delA +#159:4186 BRCA2:p.E13* +#160:4184 NM_000059.3:c.3847_3848delGT +#160:4185 NM_000059.3:c.3865_3868delAAAT +#158:4198 NM_000059.3:c.3914_3915delTT +#158:4200 BRCA2:p.Y1313* +#157:4218 NM_000059.3:c.3957_3960delTGAA +#159:4195 NM_000059.3:c.3delG +#160:4193 NM_000059.3:c.4012_4013dupGG +#160:4194 NM_000059.3:c.4048_4051delCATA +#157:4223 BRCA2:p.C1365* +#160:4197 NM_000059.3:c.4130_4131insTGAGGA +#160:4198 NM_000059.3:c.4163_4164delinsA +#157:4227 NM_000059.3:c.4218_4221delAGAA +#159:4204 NM_000059.3:c.4271delC +#159:3341 BRCA2:p.S1442* +#157:4231 NM_000059.3:c.4409_4410delTA +#158:4216 NM_000059.3:c.4449delA +#158:4217 NM_000059.3:c.4478_4481delAAAG +#160:4207 NM_000059.3:c.4554delA +#158:4220 NM_000059.3:c.462_463delAA +#159:4213 NM_000059.3:c.4638dupT +#158:4223 NM_000059.3:c.469_470delAA +#158:4224 NM_000059.3:c.4740_4741dupTG +#160:5261 BRCA2:p.V159M +#160:4215 NM_000059.3:c.4808dupA +#158:4228 BRCA2:p.L1620* +#160:4218 BRCA2:p.L164* +#157:4247 NM_000059.3:c.4947_4948delAA +#159:4224 NM_000059.3:c.4990_4991delAT +#159:4225 NM_000059.3:c.5070_5073delAAAA +#160:4223 NM_000059.3:c.5116_5119delAATA +#160:4224 NM_000059.3:c.5146_5149delTATG +#157:4253 NM_000059.3:c.5164_5165delAG +#160:4227 BRCA2:p.G173R +#160:4228 NM_000059.3:c.5217_5220delTTTA +#157:4257 BRCA2:p.Y1739* +#158:4242 BRCA2:p.Q175* +#160:4232 NM_000059.3:c.5270_5286delATAATGATTCAGGATAT +#160:4234 NM_000059.3:c.5290_5291delTC +#158:4247 BRCA2:p.Q1782* +#158:4248 NM_000059.3:c.538_539delAT +#158:2395 BRCA2:p.E1812* +#158:4251 NM_000059.3:c.5471dupA +#159:4244 NM_000059.3:c.5557delT +#158:4254 NM_000059.3:c.5583dupA +#160:40 BRCA2:p.K1872* +#159:2467 BRCA2:p.S1882* +#159:4251 NM_000059.3:c.5702_5703delAG +#159:4252 NM_000059.3:c.5722delC +#160:4250 BRCA2:p.Q1925* +#158:4263 NM_000059.3:c.5796_5797delTA +#159:4256 NM_000059.3:c.5820_5833delGAAAGTTTCTAAAA +#157:4282 NM_000059.3:c.5835dupA +#158:4267 BRCA2:p.E1953* +#159:4260 NM_000059.3:c.5904_5907delAGTC +#157:4286 NM_000059.3:c.5946delT +#159:4263 NM_000059.3:c.5968_5969delGA +#160:4261 NM_000059.3:c.6024dupG +#158:4274 NM_000059.3:c.6052_6053delAG +#160:4264 BRCA2:p.Q2024* +#160:4265 NM_000059.3:c.6082_6086delGAAGA +#157:4294 BRCA2:p.Q2042* +#158:4279 NM_000059.3:c.6178delA +#159:4272 BRCA2:p.L2069* +#159:4273 NM_000059.3:c.6239delT +#160:4271 NM_000059.3:c.6275_6276delTT +#157:4300 BRCA2:p.S2103* +#157:5304 BRCA2:p.V211L +#159:4278 NM_000059.3:c.6335_6336delGA +#159:4279 NM_000059.3:c.6361_6362delGA +#160:4277 NM_000059.3:c.6390dupT +#157:4306 NM_000059.3:c.6401_6404delATAA +#157:4307 NM_000059.3:c.6443_6444delCT +#157:4308 NM_000059.3:c.6446_6450delTTAAA +#158:4293 NM_000059.3:c.6468_6469delTC +#159:4286 NM_000059.3:c.6509_6510delAA +#160:4284 NM_000059.3:c.6553delG +#159:4289 NM_000059.3:c.6591_6592delTG +#159:4290 NM_000059.3:c.662_663delTT +#159:4291 NM_000059.3:c.6641dupC +#157:4317 BRCA2:p.S2219* +#157:4318 NM_000059.3:c.6676_6677delGA +#158:4303 NM_000059.3:c.67+1G>T +#158:4304 NM_000059.3:c.6754dupT +#160:4294 BRCA2:p.S2267* +#160:4295 NM_000059.3:c.682-1G>C +#158:4308 BRCA2:p.K230* +#158:4309 NM_000059.3:c.6944_6947delTAAA +#159:4302 NM_000059.3:c.7003_7007delTTTCG +#159:4304 BRCA2:p.R2336L +#159:4305 NM_000059.3:c.700delT +#157:4331 NM_000059.3:c.7069_7070delCT +#159:4308 NM_000059.3:c.7142delC +#160:4306 NM_000059.3:c.7208_7211delCCAA +#157:4335 BRCA2:p.S2414* +#158:4320 NM_000059.3:c.7307delA +#160:4310 NM_000059.3:c.7378_7379insG +#160:4311 NM_000059.3:c.7419_7420delTG +#157:4340 NM_000059.3:c.7474_7475delGA +#158:4325 NM_000059.3:c.7544delC +#157:4343 NM_000059.3:c.756_757delCA +#157:4344 NM_000059.3:c.7593delT +#157:4345 NM_000059.3:c.7617+1G>T +#158:4330 NM_000059.3:c.7655_7658delTTAA +#158:4331 NM_000059.3:c.7679_7680delTT +#160:4321 BRCA2:p.W2574* +#160:4323 BRCA2:p.W2586* +#157:4352 NM_000059.3:c.7762_7769delATACCCTC +#157:4353 NM_000059.3:c.7806-1G>C +#157:4354 NM_000059.3:c.7847delC +#160:5412 BRCA2:p.W2626C +#160:4330 NM_000059.3:c.7913_7917delTTCCT +#160:4331 NM_000059.3:c.793+1G>T +#159:4336 BRCA2:p.Y2658* +#160:4334 NM_000059.3:c.7977-1G>T +#159:4339 NM_000059.3:c.8012_8034delCTATAAAAAAGATAATGGAAAGG +#159:4341 BRCA2:p.E2677* +#157:4367 BRCA2:p.C2689* +#157:2463 BRCA2:p.L2696* +#159:5421 BRCA2:p.D2723H +#157:4372 NM_000059.3:c.8234_8237delTGAC +#159:4349 BRCA2:p.L2776* +#159:4350 NM_000059.3:c.8343delC +#157:4376 BRCA2:p.G2813* +#159:4353 NM_000059.3:c.8487+1G>A +#159:4355 BRCA2:p.S2835* +#157:4381 NM_000059.3:c.8537_8538delAG +#158:4366 BRCA2:p.Q2858* +#160:4356 NM_000059.3:c.8585dupT +#159:4361 NM_000059.3:c.8648delC +#160:4359 NM_000059.3:c.86_87delTT +#159:4364 BRCA2:p.E2918= +#157:4390 BRCA2:p.Q2925* +#159:4367 BRCA2:p.Q2960* +#159:4368 NM_000059.3:c.891_899delinsGATACTTCAG +#157:4394 NM_000059.3:c.8953+2T>G +#157:4395 NM_000059.3:c.8961_8964delGAGT +#159:4372 NM_000059.3:c.8997_8998delGT +#158:4382 BRCA2:p.Y3006* +#159:4375 NM_000059.3:c.9054_9055delTA +#160:805 BRCA2:p.Q3026* +#157:4402 BRCA2:p.Q3034* +#158:4387 NM_000059.3:c.9118-2A>G +#160:4377 NM_000059.3:c.9177delA +#159:4382 NM_000059.3:c.9252_9255delinsTT +#160:4380 NM_000059.3:c.9257-1G>A +#159:4385 BRCA2:p.E3096* +#158:4395 NM_000059.3:c.9310_9311delAA +#157:4413 BRCA2:p.Q3126* +#160:4387 NM_000059.3:c.9383dupG +#160:4388 NM_000059.3:c.9429_9430delTT +#157:4417 NM_000059.3:c.9466delC +#160:4391 NM_000059.3:c.9502-2A>C +#160:4392 NM_000059.3:c.9580_9581delCC +#158:4405 NM_000059.3:c.9666delT +#160:4395 NM_000059.3:c.968dupT +#157:4424 BRCA2:p.Q3295* +#159:4401 NM_000059.3:c.994_995insG +#157:4427 BRIP1:p.E458* +#158:4412 NM_032043.2:c.2108delAinsTCC +#160:4402 NM_032043.2:c.394dupA +#159:4407 NM_005188.3:c.896delG +#158:4417 NM_004360.3:c.1565+1G>A +#157:4435 CDH1:p.R74* +#158:4420 NM_004360.3:c.2403_2412delTGCCAATCCC +#158:4422 CDH1:p.G212* +#159:4416 NM_000077.4:c.151-1G>A +#159:4418 NM_000077.4:c.219delC +#160:459 CDKN2A:p.R80* +#158:4430 NM_000077.4:c.27_31delGGAGC +#158:1859 CDKN2A:p.V126D +#157:4450 NM_000077.4:c.52_83delACGGCCGCGGCCCGGGGTCGGGTAGAGGAGGT +#158:957 CHEK2:p.S428F +#160:4425 NM_007194.3:c.31dupC +#157:4454 NM_177438.2:c.714_717delTGAC +#159:2774 EGFR:p.E709G +#158:4441 NM_005228.3:c.2235_2249delGGAATTAAGAGAAGC +#157:4459 NM_005228.3:c.2236_2250delinsAATCCG +#158:4444 NM_005228.3:c.2237_2255delinsT +#159:4437 NM_005228.3:c.2240_2254delTAAGAGAAGCAACAT +#160:4436 NM_005228.3:c.2303_2311dupGCGTGGACA +#159:4441 NM_005228.3:c.2310_2311insGCGTGGAGA +#159:2709 EGFR:p.T790M +#160:1875 EGFR:p.L861Q +#160:4444 NM_001987.4:c.934delC +#158:4458 NM_004456.4:c.1546+1_1546+2delGT +#160:4449 NM_004456.4:c.1973delG +#157:4479 FH:p.S366N +#158:4464 NM_000143.3:c.780_781delAA +#158:3351 FLCN:p.R477* +#157:4483 NM_144997.5:c.59delT +#159:4460 NM_032638.4:c.599delG +#159:4462 NM_000222.2:c.1648_1674delAAACCCATGTATGAAGTACAGTGGAAG +#157:4488 NM_000222.2:c.1653_1670delCATGTATGAAGTACAGTG +#158:4473 NM_000222.2:c.1656_1712delGTATGAAGTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACAT +#160:4463 NM_000222.2:c.1662_1685delAGTACAGTGGAAGGTTGTTGAGGA +#160:4464 NM_000222.2:c.1664_1714delTACAGTGGAAGGTTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAG +#157:4493 NM_000222.2:c.1669_1680delinsGTTGTG +#158:4478 NM_000222.2:c.1671_1709delinsTAAACATTTATCTCCTCAACAACCTTC +#159:4471 NM_000222.2:c.1674_1695delinsT +#158:5285 KIT:p.V559D +#157:4499 NM_000222.2:c.1679_1720delTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA +#159:4476 NM_000222.2:c.1705_1728delGTTTACATAGACCCAACACAACTT +#157:4502 NM_000222.2:c.1717_1758dupCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGA +#159:4479 NM_000222.2:c.1738_1739insCCCTTATGATCC +#157:5307 KIT:p.T670I +#160:1923 KIT:p.D816Y +#159:4485 MEN1:p.D423N +#158:4495 MEN1:p.T202I +#157:4513 NM_000245.2:c.3213delT +#158:4499 NM_000249.3:c.1011dupC +#157:4517 NM_000249.3:c.117-2A>G +#158:4502 NM_000249.3:c.1336_1337dupAG +#157:4520 NM_000249.3:c.1554dupT +#159:4497 MLH1:p.S577= +#159:4499 NM_000249.3:c.1852_1854delAAG +#157:1943 MLH1:p.P648S +#160:4499 NM_000249.3:c.1990-1G>C +#160:4501 NM_000249.3:c.2092_2093delTC +#158:578 MLH1:p.W714* +#159:4508 MLH1:p.A111V +#157:4534 MLH1:p.S131* +#157:4535 NM_000249.3:c.503dupA +#158:237 MLH1:p.R226* +#157:4538 NM_000249.3:c.678-2A>G +#158:1040 MLH1:p.R265S +#159:4517 NM_000251.2:c.1018dupA +#158:3380 MSH2:p.R389* +#159:4520 NM_000251.2:c.1226_1227delAG +#157:4546 MSH2:p.L458* +#158:1573 MSH2:p.Y522* +#159:4525 NM_000251.2:c.1705_1706delGA +#158:4535 NM_000251.2:c.186_187dupGG +#160:4525 NM_000251.2:c.1986_1987delGA +#160:4527 MSH2:p.C697F +#159:4532 NM_000251.2:c.2135dupT +#157:4558 NM_000251.2:c.2327_2328delinsA +#160:2487 MSH2:p.E859* +#157:4561 NM_000251.2:c.400delA +#159:4538 NM_000251.2:c.567_587delTCTCCTCATCCAGATTGGACC +#157:4564 NM_000251.2:c.839dupT +#159:4541 NM_000251.2:c.942+2_942+5delTAAA +#159:4543 MSH6:p.Q4* +#159:831 MSH6:p.R495* +#159:4546 MSH6:p.E645* +#157:4572 MSH6:p.G74* +#158:4558 MSH6:p.Y850* +#158:4560 NM_000179.2:c.2920delA +#159:4554 MSH6:p.E1022* +#160:4553 NM_000179.2:c.3155_3156delAG +#158:4566 NM_000179.2:c.3238_3239delCT +#159:4559 NM_000179.2:c.3268_3274delGAGCTTA +#160:4557 NM_000179.2:c.3332_3335dupATGA +#160:4558 NM_000179.2:c.3510_3511insAAT +#158:4571 MSH6:p.S1180* +#157:4589 NM_000179.2:c.3804dupA +#158:4574 NM_000179.2:c.3939_3957dupTCAAAAGGGACATAGAAAA +#158:4575 NM_000179.2:c.3996_4000dupATTTC +#157:4593 MSH6:p.R174* +#159:4570 NM_000179.2:c.698dupC +#159:4572 MUTYH:p.Q338* +#157:2853 MUTYH:p.P405L +#157:144 MUTYH:p.Y179C +#159:4579 MUTYH:p.Q267* +#159:4581 NM_002485.4:c.156_157delTT +#159:4582 NM_001042492.2:c.1030delC +#160:4581 NM_001042492.2:c.1521delG +#158:4595 NF1:p.S575* +#158:4597 NM_001042492.2:c.2226delC +#157:4616 NF1:p.Q912* +#158:4602 NF1:p.Q1101* +#159:4596 NF1:p.Q1188* +#160:2458 NF1:p.Q1341* +#157:4626 NF1:p.E1550* +#160:4601 NF1:p.K1738* +#159:4607 NF1:p.E1929* +#159:1697 NF1:p.Q209* +#158:4620 NM_001042492.2:c.6852_6855delTTAC +#159:4614 NM_001042492.2:c.7548_7549delinsTT +#158:4624 NM_001042492.2:c.7819delG +#157:4643 NF1:p.W2712* +#158:4628 NM_024675.3:c.12dupT +#157:4646 NM_024675.3:c.1671_1674delTATT +#160:4620 PALB2:p.L703* +#158:4633 NM_024675.3:c.229delT +#160:4623 NM_024675.3:c.2406_2407delTG +#159:4628 NM_024675.3:c.2813delA +#157:4655 NM_024675.3:c.3246_3247delTG +#157:4657 NM_024675.3:c.393_423delGGTCAGTGACCCTAGTGGTGAGCAAAAGCAG +#159:4634 NM_006206.4:c.13delC +#160:4633 PMS2:p.Q346* +#158:2876 PMS2:p.S46I +#159:4640 NM_000535.5:c.164-1G>A +#160:4639 PMS2:p.R628* +#158:4652 NM_000535.5:c.2175_2275delACCTCAGACTCTCAACTTAACTGCTGTTAATGAAGCTGTTCTGATAGAAAATCTGGAAATATTTAGAAAGAATGGCTTTGATTTTGTTATCGATGAAAATG +#159:4645 NM_000535.5:c.2445+1G>T +#159:4647 NM_000535.5:c.534delG +#157:4673 NM_000535.5:c.804_903delCATCTCAGGTTTCATTTCACAATGCACGCATGGAGTTGGAAGGAGTTCAACAGACAGACAGTTTTTCTTTATCAACCGGCGGCCTTGTGACCCAGCAAAG +#160:4647 NM_000264.3:c.-8456delG +#160:4649 PTEN:p.Y68* +#159:1981 PTEN:p.R130* +#157:4681 NM_000314.4:c.481delA +#160:611 PTEN:p.Q214* +#157:4686 NM_000314.4:c.802-2A>T +#158:4672 NM_000314.4:c.932dupA +#160:2888 PTPN11:p.E76K +#160:4665 RAD51C:p.R193* +#158:4678 RAD51D:p.Q160* +#158:4679 NM_000321.2:c.2525_2526delCT +#158:4681 RET:p.C618S +#158:4683 RET:p.C620F +#158:4685 RET:p.K666N +#159:1993 RET:p.M918T +#160:4677 NM_001754.4:c.292delC +#157:4707 NM_001754.4:c.367delG +#158:4693 NM_001754.4:c.431_440delinsCAAACG +#160:2901 RUNX1:p.R204* +#160:4686 SDHA:p.Q375* +#160:3443 SDHA:p.R75* +#160:4691 NM_003000.2:c.1_72delATGGCGGCGGTGGTCGCCCTCTCCTTGAGGCGCCGGTTGCCGGCCACAACCCTTGGCGGAGCCTGCCTGCAG +#157:4720 SDHB:p.C98Y +#160:1998 SDHB:p.R242H +#160:4696 SDHD:p.R38* +#160:4698 SDHD:p.L95P +#157:4728 SDHD:p.M1I +#160:4702 NM_005359.5:c.1233_1249delTTACTACTTAGACAGAG +#157:3292 SMAD4:p.R445* +#159:4710 SMAD4:p.S144L +#158:4720 NM_005359.5:c.728_735delGGCCTCAG +#159:4714 SMAD4:p.E33* +#159:4716 STK11:p.Q37* +#158:2477 STK11:p.E57* +#159:4721 NM_000455.4:c.351delA +#160:4720 STK11:p.C151* +#157:4750 NM_000455.4:c.587delG +#159:4728 STK11:p.E223* +#159:4730 NM_000455.4:c.795delG +#160:4729 TP53:p.E336* +#160:3281 TP53:p.R342* +#159:4737 NM_000546.5:c.102dupC +#158:4747 NM_000546.5:c.147_150dupTATT +#157:698 TP53:p.E68* +#157:4768 NM_000546.5:c.239delC +#158:622 TP53:p.W91* +#158:4756 NM_000546.5:c.286dupT +#158:4758 NM_000546.5:c.306delC +#159:4752 TP53:p.Y107* +#159:4754 TP53:p.C124* +#159:4756 NM_000546.5:c.384_385delinsC +#159:4758 TP53:p.C135* +#160:4757 NM_000546.5:c.424_433delCCTGTGCAGC +#158:4771 TP53:p.W146* +#158:1118 TP53:p.P152L +#159:4767 NM_000546.5:c.461delG +#160:5280 TP53:p.R158H +#159:2388 TP53:p.Q165* +#157:4798 TP53:p.E171* +#159:4776 TP53:p.S183* +#159:4778 NM_000546.5:c.578_600delATCTTATCCGAGTGGAAGGAAAT +#160:4777 TP53:p.E198* +#157:4807 NM_000546.5:c.626_627delGA +#157:4809 NM_000546.5:c.658_659insTCAA +#158:4795 NM_000546.5:c.673-9_675delATCTCCTAGGTT +#158:4797 TP53:p.Y234* +#158:4799 NM_000546.5:c.723dupC +#157:1115 TP53:p.G245C +#159:1120 TP53:p.R248Q +#160:4795 NM_000546.5:c.763delA +#160:4797 TP53:p.G266* +#158:4811 NM_000546.5:c.826_827delinsTTT +#158:4813 TP53:p.E285* +#160:4804 NM_000546.5:c.864delT +#160:4806 NM_000546.5:c.874_877delAAAG +#157:4836 TP53:p.E298* +#157:4838 NM_000546.5:c.919+1G>T +#159:4816 TP53:p.K319* +#158:4826 NM_000546.5:c.986_992delCCCTTCA +#158:4828 NM_000548.3:c.-1857G>T +#159:4821 NM_000551.3:c.385_386dupCT +#160:2051 VHL:p.R161* +#158:4832 NM_024426.3:c.1301delG +#159:4826 APC:p.E536* +#157:4852 NM_000038.4:c.3880_3881delCA +#159:4829 NM_000059.3:c.5297dupA +#159:4830 NM_000077.4:c.205delG +#158:4840 MSH2:p.K491* +#160:4830 PTEN:p.Y76* +#157:4859 NM_000455.4:c.824dupC diff --git a/zzz.py b/zzz.py new file mode 100644 index 0000000..10e374e --- /dev/null +++ b/zzz.py @@ -0,0 +1,5 @@ +import subprocess + +p = subprocess.Popen("ls -lh", stdout=subprocess.PIPE, shell=True) + +print(p.communicate()) \ No newline at end of file diff --git a/zzzz b/zzzz new file mode 100644 index 0000000..65da50e --- /dev/null +++ b/zzzz @@ -0,0 +1,38 @@ +"structural variant", + "insertion", + "in-frame insertion", + "deletion", + "deletion polymorphism", + "in-frame deletion", + "translocation", + "inverted translocation", + "inversion", + "indel", + "fusion", + "out-of-frame fusion", + "oncogenic fusion", + "in-frame fusion", + "disruptive fusion", + "duplication", + "internal duplication", + "tandem duplication", + "internal tandem duplication", + "itd", + "domain duplication", + "kinase domain duplication", + "copy variant", + "copy number variation", + "copy number variant", + "copy loss", + "copy number loss", + "shallow deletion", + "deep deletion", + "gene deletion", + "copy gain", + "copy number gain", + "low level copy gain", + "amplification", + "focal amplification", + "rearrangement", + +