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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut MYEOV 26579 broad.mit.edu 37 11 69063063 69063063 + Missense_Mutation SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr11:69063063T>C ENST00000308946.3 + 3 596 c.146T>C c.(145-147)gTc>gCc p.V49A MYEOV_ENST00000535407.1_5'UTR|MYEOV_ENST00000441339.2_Missense_Mutation_p.V49A NM_138768.2 NP_620123.2 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 49 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) CTGTAGTCTGTCCCCCTTGGG 0.582000 4 151 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83119432 83119432 + Missense_Mutation SNP C C G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:83119432C>G ENST00000307792.3 - 2 741 c.274G>C c.(274-276)Gag>Cag p.E92Q SEMA3E_ENST00000427262.1_Missense_Mutation_p.E32Q NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 92 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TTCTATACCTCTTTATAGCCG 0.388000 26 24 0 0 1 0 0 MRPL15 29088 broad.mit.edu 37 8 55060054 55060054 + Nonsense_Mutation SNP C C G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr8:55060054C>G ENST00000260102.4 + 5 740 c.666C>G c.(664-666)taC>taG p.Y222* NM_014175.3 NP_054894.1 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 222 translation large ribosomal subunit|mitochondrion structural constituent of ribosome endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3) 10 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) ACCGTGGGTACCTGGCGGATC 0.433000 7 75 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33463111 33463111 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr9:33463111G>A ENST00000455041.2 - 24 3114 c.3055C>T c.(3055-3057)Ctt>Ttt p.L1019F NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 1071 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TAGAAGAAAAGGGCCAGATCC 0.552000 11 19 0 0 1 0 0 C20orf112 140688 broad.mit.edu 37 20 31035489 31035489 + Silent SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr20:31035489C>T ENST00000359676.5 - 8 1363 c.1221G>A c.(1219-1221)gtG>gtA p.V407V NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 407 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 TGAGCTGCCGCACGGCGCTGA 0.672000 40 45 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875401 21875401 + Missense_Mutation SNP G G T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chrX:21875401G>T ENST00000429584.2 + 1 1297 c.799G>T c.(799-801)Gat>Tat p.D267Y MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 267 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 GATGTTCCGGGATTACGCCGC 0.498000 5 208 1.23904e-05 1.26926e-05 1 1 0 ERN2 10595 broad.mit.edu 37 16 23716446 23716446 + Silent SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:23716446G>A ENST00000256797.4 - 8 924 c.756C>T c.(754-756)tgC>tgT p.C252C ERN2_ENST00000457008.2_Silent_p.C204C NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 204 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GGCCCATCCCGCAGGACGCCA 0.647000 10 36 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49161202 49161202 + Silent SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:49161202G>A ENST00000418109.1 - 25 3920 c.3756C>T c.(3754-3756)gcC>gcT p.A1252A LAMB2_ENST00000305544.4_Silent_p.A1252A NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1252 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGTGGAGGCGGCTGAGGTGT 0.622000 30 85 0 0 1 0 0 RAB27A 5873 broad.mit.edu 37 15 55497845 55497845 + Missense_Mutation SNP T T A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr15:55497845T>A ENST00000396307.2 - 6 777 c.526A>T c.(526-528)Atg>Ttg p.M176L RAB27A_ENST00000564609.1_Missense_Mutation_p.M176L|RAB27A_ENST00000569493.1_Missense_Mutation_p.M176L|RAB27A_ENST00000336787.1_Missense_Mutation_p.M176L NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 176 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) TCCAGAAGCATCTCAATTGCT 0.473000 59 46 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6241395 6241395 + Missense_Mutation SNP G G T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr18:6241395G>T ENST00000400104.3 - 8 714 c.514C>A c.(514-516)Caa>Aaa p.Q172K L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q172K Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 172 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GGAGCATTTTGCAATTTGCAG 0.308000 76 10 2.65773e-34 2.86217e-34 1 1 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 6 29 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30638670 30638670 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:30638670C>T ENST00000376442.3 - 3 701 c.506G>A c.(505-507)cGt>cAt p.R169H NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 169 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 AAGGCGTTCACGCTCTGTCCG 0.557000 4 71 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74229701 74229701 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:74229701C>T ENST00000316292.9 - 1 1040 c.49G>A c.(49-51)Gat>Aat p.D17N EEF1A1_ENST00000309268.6_Missense_Mutation_p.D17N|EEF1A1_ENST00000331523.2_Missense_Mutation_p.D17N NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 17 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 TTGCCCGAATCTACGTGTCCA 0.423000 11 37 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158068387 158068387 + Missense_Mutation SNP C C A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:158068387C>A ENST00000359775.5 + 7 1841 c.952C>A c.(952-954)Ccc>Acc p.P318T ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P318T Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 318 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CCTGTGTGGGCCCATCTCACC 0.498000 56 39 1.73933e-33 1.84941e-33 1 1 0 PRSS3P2 0 broad.mit.edu 37 7 142481246 142481246 + RNA SNP A A G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:142481246A>G ENST00000603901.1 + 0 320 NR_001296.3 CTGAACAATGACATCATGCTG 0.527000 6 79 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33638268 33638268 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:33638268G>A ENST00000374316.5 + 20 3416 c.2356G>A c.(2356-2358)Gtg>Atg p.V786M ITPR3_ENST00000605930.1_Missense_Mutation_p.V786M Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 786 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCACGTGCACGTGGACCGTGA 0.622000 73 51 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158061183 158061183 + Silent SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:158061183G>A ENST00000368172.1 + 7 762 c.750G>A c.(748-750)ggG>ggA p.G250G KIRREL_ENST00000392272.2_Silent_p.G333G|KIRREL_ENST00000359209.6_Silent_p.G436G|KIRREL_ENST00000416935.2_Silent_p.G336G|KIRREL_ENST00000360089.4_Silent_p.G272G|KIRREL_ENST00000368173.3_Silent_p.G452G Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 436 Ig-like C2-type 3. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) TGGAGGTGGGGACCCTGGAAC 0.572000 15 136 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999229 112999229 + Missense_Mutation SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:112999229T>C ENST00000271277.6 + 6 1340 c.1115T>C c.(1114-1116)gTg>gCg p.V372A NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 372 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAAACCAGGTGCCTCCACGG 0.522000 4 128 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129123129 129123129 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:129123129C>T ENST00000505956.1 - 7 1529 c.1367G>A c.(1366-1368)cGg>cAg p.R456Q EFCAB12_ENST00000326085.3_Missense_Mutation_p.R456Q NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 GCCCTGGGACCGGAGCAGAGC 0.562000 31 123 0 0 1 0 0 DDX19A 55308 broad.mit.edu 37 16 70400656 70400656 + Silent SNP T T C rs142443034 byFrequency TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:70400656T>C ENST00000302243.7 + 9 1075 c.912T>C c.(910-912)gaT>gaC p.D304D DDX19A_ENST00000417604.2_Silent_p.D273D|DDX19A_ENST00000443119.2_Silent_p.D214D NM_018332.3 NP_060802.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1) 11 Ovarian(137;0.221) AGACCCTGGATACCATCAAGC 0.502000 29 115 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 6 54 0.0215528 0.0215528 1 1 0 ABCA7 10347 broad.mit.edu 37 19 1056090 1056090 + Nonsense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:1056090C>T ENST00000263094.6 + 32 4495 c.4264C>T c.(4264-4266)Cga>Tga p.R1422* ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R1422*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R1284* NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1422 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGGGGGCCGAGACCCAGG 0.726000 36 46 0 0 1 0 0 RNF34 80196 broad.mit.edu 37 12 121867855 121867855 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:121867855G>A ENST00000392464.2 + 7 1151 c.1082G>A c.(1081-1083)cGc>cAc p.R361H KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000377071.4_3'UTR|KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000536437.1_3'UTR Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 15 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) TGTAAAGGCCGCCTTAGAAAT 0.483000 8 61 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156726 26156726 + Silent SNP T T A rs148044098 TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:26156726T>A ENST00000304218.3 + 1 168 c.108T>A c.(106-108)tcT>tcA p.S36S NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 36 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 GCAAAGCGTCTGGGCCCCCGG 0.662000 23 54 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 102 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48210912 48210912 + Missense_Mutation SNP G G T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:48210912G>T ENST00000394747.1 - 24 3810 c.3461C>A c.(3460-3462)aCa>aAa p.T1154K ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1154K|ABCC11_ENST00000394748.1_Missense_Mutation_p.T1154K|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1154K NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1154 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CACGGTGGGTGTGTTGTCTCT 0.557000 17 17 5.03518e-11 5.28694e-11 1 1 0 OR51B5 282763 broad.mit.edu 37 11 5364389 5364389 + Silent SNP A A T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr11:5364389A>T ENST00000300773.2 - 1 420 c.366T>A c.(364-366)atT>atA p.I122I AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCAGATGGCAATAAAACGGT 0.463000 13 57 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223568629 223568629 + Silent SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:223568629C>T ENST00000366875.3 + 1 1915 c.1812C>T c.(1810-1812)tcC>tcT p.S604S NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 604 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) CCAACAGCTCCCTTGATCAGA 0.582000 25 37 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47147518 47147518 + Missense_Mutation SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:47147518T>C ENST00000409792.3 - 6 4850 c.4808A>G c.(4807-4809)cAt>cGt p.H1603R NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1603 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GAAATAGTAATGGATGTTTTT 0.398000 """N, F, S, Mis""" clear cell renal carcinoma 22 100 0 0 1 0 0 HAUS1 115106 broad.mit.edu 37 18 43685266 43685266 + Missense_Mutation SNP T T G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr18:43685266T>G ENST00000282058.6 + 2 217 c.137T>G c.(136-138)gTc>gGc p.V46G HAUS1_ENST00000585518.1_Missense_Mutation_p.V46G NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 46 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 CGCAACAGGGTCCGGGACAGG 0.438000 25 5 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38884668 38884668 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr21:38884668G>A ENST00000339659.3 + 11 3569 c.2099G>A c.(2098-2100)cGc>cAc p.R700H DYRK1A_ENST00000455387.2_Missense_Mutation_p.R481H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.R709H NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 709 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 TCCAATCCCCGCCAAGAGACT 0.488000 28 53 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147108875 147108875 + Missense_Mutation SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:147108875T>C ENST00000383075.3 - 4 1359 c.847A>G c.(847-849)Aag>Gag p.K283E ZIC4_ENST00000484399.1_Missense_Mutation_p.K283E|ZIC4_ENST00000473123.1_Missense_Mutation_p.K283E|ZIC4_ENST00000525172.2_Missense_Mutation_p.K333E|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.K321E|ZIC4_ENST00000491672.1_Missense_Mutation_p.K77E NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 283 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 TTCATGTGCTTACGCAGCGAG 0.642000 23 61 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17250900 17250900 + Missense_Mutation SNP G G A rs140882535 TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:17250900G>A ENST00000375541.5 + 3 346 c.277G>A c.(277-279)Gtg>Atg p.V93M CROCC_ENST00000467938.1_Intron NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 93 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCTGTCCCGCGTGGAGGACCT 0.657000 19 24 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189026001 189026001 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr4:189026001G>A ENST00000512729.1 - 2 499 c.125C>T c.(124-126)gCg>gTg p.A42V TRIML2_ENST00000326754.3_Missense_Mutation_p.A42V|TRIML2_ENST00000536972.1_Missense_Mutation_p.A92V NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 42 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CTGAATCATCGCCATTCTTTC 0.363000 16 65 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9801052 9801052 + Missense_Mutation SNP C C T rs115285977 by1000genomes TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:9801052C>T ENST00000457674.2 - 5 1645 c.1127G>A c.(1126-1128)cGt>cAt p.R376H ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGTTTACTACGATAGGAAGA 0.388000 33 32 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 31 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139734050 139734050 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:139734050G>A ENST00000263549.3 - 8 2279 c.1406C>T c.(1405-1407)aCg>aTg p.T469M PARP12_ENST00000470515.1_5'UTR NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 469 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) TTGCATGGTCGTCACATCCTG 0.493000 13 21 0 0 1 0 0 TAAR2 9287 broad.mit.edu 37 6 132939136 132939136 + Missense_Mutation SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:132939136T>C ENST00000275191.2 - 1 181 c.74A>G c.(73-75)tAc>tGc p.Y25C TAAR2_ENST00000367931.1_Missense_Mutation_p.Y70C|TAAR2_ENST00000537809.1_Missense_Mutation_p.Y25C NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 70 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CTGCTTGAAGTAGGAAATGGA 0.428000 10 59 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71974137 71974137 + Missense_Mutation SNP A A G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:71974137A>G ENST00000266674.5 + 16 1797 c.1486A>G c.(1486-1488)Aat>Gat p.N496D LGR5_ENST00000536515.1_Missense_Mutation_p.N424D|LGR5_ENST00000540815.2_Missense_Mutation_p.N472D O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 496 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TAATCAATGGAATAAAGGTGA 0.393000 31 205 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134128882 134128882 + Missense_Mutation SNP A A G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr8:134128882A>G ENST00000220616.4 + 45 7824 c.7784A>G c.(7783-7785)gAc>gGc p.D2595G TG_ENST00000542445.1_Missense_Mutation_p.D965G|TG_ENST00000519543.1_Missense_Mutation_p.D728G|TG_ENST00000377869.1_Missense_Mutation_p.D2538G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2595 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCTATAATCGACATGGCCAGT 0.537000 52 59 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13600893 13600893 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr4:13600893C>T ENST00000040738.5 - 10 7766 c.7631G>A c.(7630-7632)gGg>gAg p.G2544E NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2544 DNA binding AGCCACGGTCCCTTGAACAGG 0.493000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 9 0 0 1 0 0 IGLV3-12 0 broad.mit.edu 37 22 23114830 23114830 + RNA SNP A A G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr22:23114830A>G ENST00000390313.2 + 0 111 TGGCCACAGCACAGATGGCCA 0.498000 10 16 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21817119 21817119 + Missense_Mutation SNP C C A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr5:21817119C>A ENST00000382254.1 - 9 2023 c.937G>T c.(937-939)Ggg>Tgg p.G313W CDH12_ENST00000504376.2_Missense_Mutation_p.G313W|CDH12_ENST00000522262.1_Missense_Mutation_p.G273W|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 313 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AAATTTCCCCCATCTCCTGGA 0.383000 HNSCC(59;0.17) 43 49 1.31131e-34 1.43051e-34 1 1 0 CMAS 55907 broad.mit.edu 37 12 22199458 22199458 + Missense_Mutation SNP G G C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:22199458G>C ENST00000229329.2 + 1 351 c.221G>C c.(220-222)tGg>tCg p.W74S NM_018686.4 NP_061156.1 Q8NFW8 NEUA_HUMAN cytidine monophosphate N-acetylneuraminic acid synthetase 74 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 CTCATTGGCTGGGTCCTGCGT 0.692000 14 22 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156846352 156846352 + Missense_Mutation SNP A A G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:156846352A>G ENST00000368196.3 + 13 1895 c.1775A>G c.(1774-1776)aAc>aGc p.N592S NTRK1_ENST00000524377.1_Missense_Mutation_p.N598S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N595S|NTRK1_ENST00000392302.2_Missense_Mutation_p.N562S NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 598 Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGGGACCTCAACCGCTTCCTC 0.642000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 11 22 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 109807 109807 + Silent SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:109807G>A ENST00000262316.6 - 14 1882 c.1740C>T c.(1738-1740)agC>agT p.S580S NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 580 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity p.S580S(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) GGTTCCCAGCGCTGTTTTTGG 0.592000 21 23 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660106 46660106 + Missense_Mutation SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:46660106T>C ENST00000544460.1 + 1 4495 c.4241T>C c.(4240-4242)tTg>tCg p.L1414S TDRD6_ENST00000316081.6_Missense_Mutation_p.L1414S NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1414 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TTGCCGGGGTTGTGCATTCAT 0.408000 76 122 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107032445 107032445 + Splice_Site SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:107032445T>C ENST00000409886.3 - 21 5012 c.4924_splice c.e21-1 p.E1642_splice RGPD3_ENST00000304514.7_Splice_Site_p.E1642_splice NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1642 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TAATGGAGGCTCTGCAACATG 0.328000 13 65 0 0 1 0 0 LILRB1 0 broad.mit.edu 37 19 55143565 55143565 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:55143565G>A ENST00000396331.1 + 6 895 c.538G>A c.(538-540)Gcc>Acc p.A180T LILRB1_ENST00000396321.2_Missense_Mutation_p.A180T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A216T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A180T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A180T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A180T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A180T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A180T|LILRB1_ENST00000448689.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A180T NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 180 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GTCGTCCCGCGCCATCTTCTC 0.577000 HNSCC(37;0.09) 86 21 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51751835 51751835 + Splice_Site SNP T T A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:51751835T>A ENST00000395052.3 + 5 2779 c.e5+2 GRM2_ENST00000442933.2_Splice_Site|GRM2_ENST00000475478.1_Splice_Site NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TTGGCCAAGGTCAGTGTCCTA 0.622000 20 42 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35902074 35902074 + Splice_Site SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:35902074C>T ENST00000339208.6 - 15 3342 c.3202_splice c.e15+1 p.G1068_splice SYNRG_ENST00000394378.2_Splice_Site_p.G990_splice|SYNRG_ENST00000346661.4_Splice_Site_p.G1068_splice|SYNRG_ENST00000345615.4_Splice_Site_p.G990_splice|SYNRG_ENST00000591288.1_Splice_Site_p.G862_splice|SYNRG_ENST00000585472.1_Splice_Site_p.G989_splice|SYNRG_ENST00000502449.2_Splice_Site_p.G945_splice NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1068 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGCTACTCACCTTGAACAGAA 0.373000 56 78 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72700686 72700686 + Missense_Mutation SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr17:72700686T>C ENST00000469092.1 - 3 598 c.322A>G c.(322-324)Act>Gct p.T108A CD300LF_ENST00000583937.1_Missense_Mutation_p.T105A|CD300LF_ENST00000464910.1_Missense_Mutation_p.T108A|CD300LF_ENST00000301573.9_Missense_Mutation_p.T105A|CD300LF_ENST00000581500.1_Missense_Mutation_p.T108A|CD300LF_ENST00000326165.6_Missense_Mutation_p.T105A|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.T108A|CD300LF_ENST00000361254.4_Missense_Mutation_p.T108A Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 105 Ig-like V-type. integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CACCAGTAAGTGTCAGCATCA 0.478000 86 120 0 0 1 0 0 UGT1A8 0 broad.mit.edu 37 2 234526858 234526858 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:234526858G>A ENST00000373450.4 + 1 568 c.505G>A c.(505-507)Gcc>Acc p.A169T NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TGTGGTCTTCGCCAGGGGAAT 0.468000 64 126 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 6 49 0 0 1 0 0 TEAD3 7005 broad.mit.edu 37 6 35454437 35454437 + Translation_Start_Site SNP T T C TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr6:35454437T>C ENST00000402886.3 - 0 104 TEAD3_ENST00000338863.7_Missense_Mutation_p.I1M Q99594 TEAD3_HUMAN TEA domain family member 3 female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 TGTTGGACGCTATTGTGCTGG 0.682000 3 71 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435787 158435787 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:158435787G>A ENST00000289451.2 + 1 516 c.436G>A c.(436-438)Gct>Act p.A146T NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) GGGACTAATGGCTGCTGCCTG 0.552000 15 234 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172549335 172549335 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:172549335C>T ENST00000534253.2 + 3 325 c.157C>T c.(157-159)Ctt>Ttt p.L53F DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L53F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L53F Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 53 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) AGAATCAGATCTTGAAAAAAA 0.353000 6 8 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43897195 43897195 + Splice_Site SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr1:43897195G>A ENST00000562955.1 + 34 4917 c.e34+1 SZT2_ENST00000372442.1_Splice_Site NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CATGAATGAGGTGAGCCCCCC 0.498000 81 10 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70363827 70363827 + Silent SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr16:70363827C>T ENST00000288071.6 + 9 1124 c.879C>T c.(877-879)aaC>aaT p.N293N DDX19B_ENST00000355992.3_Silent_p.N262N|DDX19B_ENST00000393657.2_Silent_p.N184N|DDX19B_ENST00000568625.1_Silent_p.N184N|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563392.1_Silent_p.N184N|DDX19B_ENST00000451014.3_Silent_p.N267N|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Silent_p.N298N NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 293 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) CAGACCCAAACGTTATCAAAC 0.527000 4 150 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217736 150217736 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:150217736C>T ENST00000313543.4 + 2 831 c.674C>T c.(673-675)aCt>aTt p.T225I NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 225 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAAATCTACACTGACCAATTA 0.343000 37 51 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 6 56 0 0 1 0 0 C20orf112 140688 broad.mit.edu 37 20 31035488 31035488 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr20:31035488G>A ENST00000359676.5 - 8 1364 c.1222C>T c.(1222-1224)Cgg>Tgg p.R408W NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 408 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 ATGAGCTGCCGCACGGCGCTG 0.667000 40 45 0 0 1 0 0 LYPD6B 130576 broad.mit.edu 37 2 150064872 150064872 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr2:150064872G>A ENST00000409642.3 + 5 675 c.274G>A c.(274-276)Gca>Aca p.A92T LYPD6B_ENST00000280115.7_Missense_Mutation_p.A92T|LYPD6B_ENST00000409029.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000409876.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000498249.1_3'UTR NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 68 UPAR/Ly6. anchored to membrane|plasma membrane endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 TTGTGAAAACGCAGGGGATAA 0.373000 44 44 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95768289 95768289 + Missense_Mutation SNP T T G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr8:95768289T>G ENST00000414645.2 + 7 736 c.637T>G c.(637-639)Tcc>Gcc p.S213A NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 213 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) AATTGAATACTCCATTCCTTT 0.313000 46 46 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088048 86088048 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr14:86088048G>A ENST00000330753.4 + 2 957 c.190G>A c.(190-192)Ggc>Agc p.G64S FLRT2_ENST00000554746.1_Missense_Mutation_p.G64S NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 64 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GATCCCGGAGGGCGTAACTGT 0.517000 81 90 0 0 1 0 0 SLC2A4RG 56731 broad.mit.edu 37 20 62372750 62372750 + Silent SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr20:62372750C>T ENST00000266077.2 + 3 361 c.309C>T c.(307-309)gaC>gaT p.D103D SLC2A4RG_ENST00000493772.1_3'UTR NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator 103 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCCGGCTGGACGAGGTCATGG 0.677000 8 99 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921479 24921479 + Missense_Mutation SNP A A T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr15:24921479A>T ENST00000329468.2 + 1 939 c.465A>T c.(463-465)gaA>gaT p.E155D NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGGCCCAAGAAGGGCCCAGAA 0.602000 5 60 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120966794 120966794 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:120966794C>T ENST00000288532.6 - 1 191 c.151G>A c.(151-153)Gaa>Aaa p.E51K COQ5_ENST00000445328.2_Missense_Mutation_p.E51K NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 51 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGTGCGTTTCCGCTGCCCGC 0.632000 29 175 0 0 1 0 0 HYAL1 3373 broad.mit.edu 37 3 50338477 50338477 + Missense_Mutation SNP G G A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:50338477G>A ENST00000266031.4 - 2 1547 c.932C>T c.(931-933)gCg>gTg p.A311V HYAL1_ENST00000395144.2_Missense_Mutation_p.A311V|HYAL1_ENST00000395143.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.A311V|HYAL1_ENST00000457214.2_Missense_Mutation_p.A129V|HYAL1_ENST00000447605.2_Missense_Mutation_p.A52V Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 311 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) CCCCTGGGCCGCACTCTCCCC 0.627000 3 38 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 7888162 7888162 + Silent SNP C C A TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr18:7888162C>A ENST00000332175.8 + 3 1292 c.255C>A c.(253-255)ctC>ctA p.L85L PTPRM_ENST00000400053.4_Silent_p.L23L|PTPRM_ENST00000400060.4_Silent_p.L85L|PTPRM_ENST00000580170.1_Silent_p.L85L NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 85 MAM. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CCCACCTGCTCTTACCCCAAC 0.463000 4 138 0.00909568 0.00920527 1 1 0 RBM46 166863 broad.mit.edu 37 4 155720132 155720132 + Missense_Mutation SNP A A G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr4:155720132A>G ENST00000510397.1 + 4 997 c.818A>G c.(817-819)tAt>tGt p.Y273C RBM46_ENST00000281722.3_Missense_Mutation_p.Y273C|RBM46_ENST00000514866.1_Missense_Mutation_p.Y273C NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 273 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) CTTAGAGATTATGCTTTTGTT 0.363000 14 13 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52643673 52643673 + Silent SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:52643673C>T ENST00000356770.4 - 15 2129 c.2127G>A c.(2125-2127)ccG>ccA p.P709P PBRM1_ENST00000409767.1_Silent_p.P756P|PBRM1_ENST00000409114.3_Silent_p.P756P|PBRM1_ENST00000409057.1_Silent_p.P741P|PBRM1_ENST00000337303.4_Silent_p.P741P|PBRM1_ENST00000410007.1_Silent_p.P741P|PBRM1_ENST00000394830.3_Silent_p.P741P|PBRM1_ENST00000296302.7_Silent_p.P741P Q86U86 PB1_HUMAN polybromo 1 741 Bromo 5. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCAAAGACTCCGGCTCATTGT 0.423000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 11 84 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629728 47629728 + Silent SNP A A G TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:47629728A>G ENST00000546455.1 + 4 1613 c.882A>G c.(880-882)ttA>ttG p.L294L PCED1B_ENST00000432328.1_Silent_p.L294L PC-esterase domain containing 1B ccccacccttaccttccccca 0.642000 11 32 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101738436 101738436 + Missense_Mutation SNP G G T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:101738436G>T ENST00000261637.4 + 36 4687 c.4513G>T c.(4513-4515)Gct>Tct p.A1505S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1505 A -> P (in Ref. 1; CAA07243). endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CAAAAAGCTAGCTGCCTTGAA 0.373000 4 93 1.23904e-05 1.26926e-05 1 1 0 SETD2 29072 broad.mit.edu 37 3 47088034 47088035 + Frame_Shift_Ins INS - - TGTA TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:47088034_47088035insTGTA ENST00000409792.3 - 16 7082_7083 c.7040_7041insTACA c.(7039-7041)cccfs p.P2347fs NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2347 Gln-rich.|Low charge region. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CTGCGGCTGGCTGTACCACCAC 0.455 """N, F, S, Mis""" clear cell renal carcinoma 28 39 --- --- --- --- DNAH12 201625 broad.mit.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr3:57509313delT ENST00000351747.2 - 4 456 c.276delA c.(274-276)aafs p.K92fs DNAH12_ENST00000389536.4_Frame_Shift_Del_p.K92fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.K92fs NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 92 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.G93fs*7(2) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 AACTCACTCCTTTTTTTTTCA 0.254 3 5 --- --- --- --- DPY19L2P2 0 broad.mit.edu 37 7 102902926 102902926 + RNA DEL A A - TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr7:102902926delA ENST00000312132.4 - 0 2401 TTAAAACATGAAAAaaaaagg 0.383 2 4 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572242 57572242 + Frame_Shift_Del DEL G G - rs139915490 TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr12:57572242delG ENST00000243077.3 + 27 4928 c.4462delG c.(4462-4464)ggfs p.G1489fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1489 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACGCTGTACGGGGGGGAGGT 0.587 8 167 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48936948 48936966 + Splice_Site DEL CAGAAACAGCTGTTATACC CAGAAACAGCTGTTATACC - rs147754935 byFrequency TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr13:48936948_48936966delCAGAAACAGCTGTTATACC ENST00000267163.4 + 8 856_872 c.718_splice c.e8-1 p.240_splice NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 240 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.K240_A242>T(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCACTTTTACAGAAACAGCTGTTATACCCATTAATGGT 0.338 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 11 7 --- --- --- --- RNASEH2B 79621 broad.mit.edu 37 13 51530586 51530587 + Frame_Shift_Ins INS - - A rs75254367 TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr13:51530586_51530587insA ENST00000336617.3 + 11 1314_1315 c.915_916insA c.(913-918)aaaaaafs p.KK305fs RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 305 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) GGGTAAAAAATAAAAAAAAAAT 0.297 7 0 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 2 4 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 8 132 --- --- --- --- ZNF780B 163131 broad.mit.edu 37 19 40541052 40541052 + Frame_Shift_Del DEL G G - TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 425bf16e-aeb2-453a-932b-b3f59016b041 e849abef-b55e-4124-b760-09101a7c4390 g.chr19:40541052delG ENST00000434248.1 - 5 1779 c.1714delC c.(1714-1716)ttfs p.L572fs ZNF780B_ENST00000221355.6_Frame_Shift_Del_p.L424fs NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGTTGATTAAGATTTGAACCA 0.383 10 94 --- --- --- ---