Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NBPF10 100132406 broad.mit.edu 37 1 144828688 144828688 + Silent SNP C T T TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr1:144828688C>T uc009wig.1 + 21 2921 c.2727C>T c.(2725-2727)caC>caT p.H909H NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 911 p.H578H(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAACAGCACATCAGCTTCG 0.433000 49 35 0 0 0.000132358 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315538 30315539 + Missense_Mutation DNP CC AA AA TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr10:30315538_30315539CC>AA uc009xle.2 - 2 3675_3676 c.3538_3539GG>TT c.(3538-3540)ggg>TTg p.G1180L KIAA1462_uc001iux.3_Missense_Mutation_p.G1180L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G1042L NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 1180 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GGTGACAACCCCGTCCACATCT 0.584000 195 8 0 0 6.4e-05 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554402 85554403 + Missense_Mutation DNP GG TT TT TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr2:85554402_85554403GG>TT uc021vjw.1 - 1 786_787 c.452_453CC>AA c.(451-453)ccc>cAA p.P151Q TGOLN2_uc002spb.3_Missense_Mutation_p.P151Q|TGOLN2_uc002soz.3_Missense_Mutation_p.P151Q|TGOLN2_uc021vjx.1_Missense_Mutation_p.P151Q|TGOLN2_uc002spa.3_Intron|TGOLN2_uc002spc.2_Missense_Mutation_p.P151Q NM_001206840 NP_001193769 O43493 TGON2_HUMAN Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA. 151 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CCGACCTGTTGGGGCTGTCTTC 0.569000 583 13 0 0 6.4e-05 0 0 CLCC1 23155 broad.mit.edu 37 1 109482692 109482693 + Missense_Mutation DNP GG TT TT TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr1:109482692_109482693GG>TT uc021ora.1 - 6 879_880 c.868_869CC>AA c.(868-870)cct>AAt p.P290N AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.P240N|CLCC1_uc001dwf.1_Missense_Mutation_p.P290N|CLCC1_uc009wes.1_Missense_Mutation_p.P169N|CLCC1_uc009wet.1_Intron NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA. 290 Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CAACCAAATAGGGTTGACTAGT 0.342000 529 12 0 0 6.4e-05 0 0 POTEC 388468 broad.mit.edu 37 18 14543019 14543019 + Missense_Mutation SNP T C C TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr18:14543019T>C uc010dln.3 - 0 581 c.127A>G c.(127-129)Atg>Gtg p.M43V POTEC_uc010xaj.2_Non-coding_Transcript NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA. 43 p.M43I(1) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAAGTGCCCATGTTGCTCTTG 0.587000 164 8 0 0 1.12685e-05 0 0 ABCC8 6833 broad.mit.edu 37 11 17424217 17424218 + Missense_Mutation DNP CG AT AT rs139964066 TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr11:17424217_17424218CG>AT uc001mnc.3 - 28 3766_3767 c.3640_3641CG>AT c.(3640-3642)cgg>ATg p.R1214M NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1214 ABC transmembrane type-1 2. R -> Q (in HHF1; severe).|R -> W (in HHF1). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CCTGAAGGCCCGGATGGTGGTG 0.589000 456 12 0 0 6.4e-05 0 0 MST1P9 11223 broad.mit.edu 37 1 17084510 17084510 + Silent SNP G A A rs61769731 by1000genomes TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr1:17084510G>A uc010ock.2 - 11 1588 c.1588C>T c.(1588-1590)Cta>Tta p.L530L CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L130L Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. p.L525L(2)|p.L530L(2) breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 ACCCGCTGTAGGCCTGGCTCT 0.577000 82 10 0 0 3.86212e-05 0 0 C12orf12 196477 broad.mit.edu 37 12 91347702 91347703 + Missense_Mutation DNP GG TT TT TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr12:91347702_91347703GG>TT uc001tbj.3 - 0 1251_1252 c.817_818CC>AA c.(817-819)ccg>AAg p.P273K NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 273 Glu-rich. p.P273Q(2) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 caccAGCAGCGGGGCAAGAGAC 0.525000 460 9 0 0 6.4e-05 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G A A TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr15:23205094G>A uc001yvg.3 - 1 c.701C>T WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript|WHAMMP3_uc010aye.1_Non-coding_Transcript Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA. AGTACTGGAAGAACGTGGTTG 0.373000 23 4 0 0 0.00024832 0 0 CIT 11113 broad.mit.edu 37 12 120156512 120156513 + Missense_Mutation DNP CG AT AT TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr12:120156512_120156513CG>AT uc001txj.2 - 30 4050_4051 c.3994_3995CG>AT c.(3994-3996)cgg>ATg p.R1332M CIT_uc001txh.2_Missense_Mutation_p.R809M|CIT_uc001txi.2_Missense_Mutation_p.R1290M NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1290 intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) ACCTTCCTCCCGGGCGGACCGG 0.550000 191 7 0 0 6.4e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628225 29628225 + Splice_Site SNP A G G TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr20:29628225A>G uc010ztl.1 + 3 171 c.139_splice c.e3-2 p.G47_splice FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site|FRG1B_uc010ztk.1_Splice_Site Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGTTTCACTTAGGGGAAAATG 0.358000 45 4 0 0 0.00024832 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T G G TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr16:32890622T>G uc002edh.1 - 4 440 c.264A>C c.(262-264)aaA>aaC p.K88N SLC6A10P_uc002edi.1_Non-coding_Transcript Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA. CGTTGGTGTTTTTGTAGACCA 0.617000 20 3 0 0 6.4e-05 0 0 FMR1NB 158521 broad.mit.edu 37 X 147063198 147063199 + Splice_Site DNP CG AT AT TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chrX:147063198_147063199CG>AT uc004fcm.3 + 1 351 c.277_splice c.e1+1 p.G93_splice NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA. 93 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ACCTGTGCTCCGGTGAGTGCTG 0.604000 234 6 0 0 6.4e-05 0 0 APBB1 322 broad.mit.edu 37 11 6422246 6422247 + Missense_Mutation DNP CC AA AA TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr11:6422246_6422247CC>AA uc001mdb.1 - 10 1738_1739 c.1638_1639GG>TT c.(1636-1641)ctgggg>ctTTgg p.G547W APBB1_uc001mdd.3_Missense_Mutation_p.G327W|APBB1_uc001mdc.1_Missense_Mutation_p.G547W|APBB1_uc010rab.2_Missense_Mutation_p.G74W NM_001164 NP_001155 O00213 APBB1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA. 549 PID 2. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GGTACATTCCCCAGGTAATAGA 0.490000 439 11 0 0 6.4e-05 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T A A rs13566 TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr1:16945409T>A uc010ocf.2 - 3 c.748A>T CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. GCGGGATAGCTCGGTGGAGAG 0.612000 56 7 0 0 8.12818e-05 0 0 NPTXR 23467 broad.mit.edu 37 22 39222573 39222574 + Missense_Mutation DNP CG AT AT rs139762084 byFrequency TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr22:39222573_39222574CG>AT uc003awk.3 - 2 1183_1184 c.1029_1030CG>AT c.(1027-1032)cccggg>ccATgg p.G344W NM_014293 NP_055108 O95502 NPTXR_HUMAN Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA. 344 Pentaxin. integral to membrane metal ion binding p.P343S(1) central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) TTGGCCTGCCCGGGCACTGAGT 0.663000 119 5 0 0 6.4e-05 0 0 PSG3 5671 broad.mit.edu 37 19 43382154 43382155 + Missense_Mutation DNP CG AT AT rs142473373 TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr19:43382154_43382155CG>AT uc002ovd.1 - 1 478_479 c.340_341CG>AT c.(340-342)cgg>ATg p.R114M PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.R114M|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.R114M|PSG3_uc002ova.2_Missense_Mutation_p.R114M|PSG3_uc002ouz.2_Missense_Mutation_p.R114M|PSG3_uc002ovb.3_Missense_Mutation_p.R114M NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 114 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TGCGTCCTCCCGGGTGACATTC 0.450000 384 11 0 0 6.4e-05 0 0 MSH5 4439 broad.mit.edu 37 6 31710673 31710674 + Missense_Mutation DNP CC AA AA TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr6:31710673_31710674CC>AA uc003nwu.2 + 3 419_420 c.291_292CC>AA c.(289-294)ccccag>ccAAag p.Q98K MSH5_uc003nwx.2_Missense_Mutation_p.Q98K|MSH5_uc003nwv.2_Missense_Mutation_p.Q98K|MSH5_uc003nww.2_Missense_Mutation_p.Q98K|MSH5_uc011dof.1_5'Flank NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 98 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|ovary(2)|skin(2) 5 AGATCAATCCCCAGTCTGTTGT 0.431000 Direct reversal of damage;Mismatch excision repair (MMR) 620 12 0 0 6.4e-05 0 0 HIRIP3 8479 broad.mit.edu 37 16 30005857 30005858 + Missense_Mutation DNP GG TT TT TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr16:30005857_30005858GG>TT uc002dve.3 - 3 1099_1100 c.608_609CC>AA c.(607-609)ccc>cAA p.P203Q BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_Intron NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA. 203 Glu-rich. chromatin assembly or disassembly nucleus protein binding p.P203P(2) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 TCCTCTGAACGGGTTCTGCCTC 0.505000 365 10 0 0 6.4e-05 0 0 NBPF10 100132406 broad.mit.edu 37 1 144828683 144828683 + Missense_Mutation SNP C G G TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr1:144828683C>G uc009wig.1 + 21 2916 c.2722C>G c.(2722-2724)Cag>Gag p.Q908E NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 910 p.Q577E(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATTTGAGGAACAGCACATCAG 0.438000 50 35 0 0 0.000109025 0 0 KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT - - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr1:155886422_155886423delCT uc001fmi.1 - 11 1570_1571 c.1546_1547delAG c.(1546-1548)aggfs p.R516fs KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN Homo sapiens KIAA0907 (KIAA0907), mRNA. 516 p.R516fs*21(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 --- 361 --- --- 7 --- TTN 7273 broad.mit.edu 37 2 179588388 179588388 + Frame_Shift_Del DEL C - - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr2:179588388delC uc021vsy.1 - 70 17932 c.17707delG c.(17707-17709)gaafs p.E5903fs TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.E2564fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6830 Ig-like 40. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTAGTACTTCCAAAGGTTCA 0.403 --- 4 --- --- 2 --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T - - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr6:42196333delT uc003ose.2 - 17 3976 c.3413delA c.(3412-3414)aagfs p.K1138fs TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.P1138P(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 --- 826 --- --- 8 --- FAM22F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA - - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr9:97080945_97080947delAGA uc004aup.1 - 6 2092_2094 c.2071_2073delTCT c.(2071-2073)tctdel p.S691del NM_017561 NP_060031 A1L443 FA22F_HUMAN Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA. 691 Missing (in Ref. 2; AAI30391 and 3; CAB61394). p.S557delS(1) central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1) 19 Acute lymphoblastic leukemia(62;0.136) TGCTGGCAGGAGAAGGTGATGGG 0.611 --- 5 --- --- 6 --- HNF1A 6927 broad.mit.edu 37 12 121432115 121432115 + Frame_Shift_Del DEL G - - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr12:121432115delG uc001tzg.3 + 3 885 c.862delG c.(862-864)gggfs p.G288fs HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Frame_Shift_Del_p.G288fs|HNF1A_uc001tzf.3_Frame_Shift_Del_p.G288fs|HNF1A_uc010szn.2_Frame_Shift_Del_p.G288fs|HNF1A_uc021rfa.1_Frame_Shift_Del_p.G288fs|HNF1A_uc021rfb.1_Frame_Shift_Del_p.G160fs|HNF1A_uc021rfc.1_Intron NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 288 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.S287S(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CACGTACAGCGGGCCCCCCCC 0.672 Hepatic Adenoma, Familial Clustering of --- 272 --- --- 10 --- CHD9 80205 broad.mit.edu 37 16 53191095 53191095 + Frame_Shift_Del DEL T - - TCGA-EE-A2GK-06A-11D-A196-08 TCGA-EE-A2GK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d39d79f-ebea-463b-af46-7a59ef21ed1f 76a32d10-71f6-444c-93de-e96ae7e4ffdb g.chr16:53191095delT uc002ehb.3 + 0 1258 c.1094delT c.(1093-1095)gttfs p.V365fs CHD9_uc002egy.3_Frame_Shift_Del_p.V365fs|CHD9_uc002egz.1_Frame_Shift_Del_p.V365fs|CHD9_uc002ehc.3_Frame_Shift_Del_p.V365fs NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 365 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CCAGATCCTGTTGACTCAGGA 0.343 --- 4 --- --- 2 ---