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 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T A rs121913233 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:533874T>A ENST00000417302.1 - 3 369 c.182A>T c.(181-183)cAg>cTg p.Q61L HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 48 122 0 0 1 0 0 NUTM2F 54754 broad.mit.edu 37 9 97084489 97084489 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:97084489G>A ENST00000335456.7 - 3 856 c.836C>T c.(835-837)gCg>gTg p.A279V NUTM2F_ENST00000341207.4_Missense_Mutation_p.A279V|NUTM2F_ENST00000253262.4_Missense_Mutation_p.A279V NUT family member 2F TCACTTTTCCGCCATCTCGTA 0.632000 33 154 0 0 1 0 0 RPL39L 116832 broad.mit.edu 37 3 186839066 186839066 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:186839066G>C ENST00000296277.4 - 3 425 c.23C>G c.(22-24)aCc>aGc p.T8S RPL39L_ENST00000433055.1_Missense_Mutation_p.T8S|RPL39L_ENST00000455270.1_Missense_Mutation_p.T8S NM_052969.1 NP_443201.1 Q96EH5 RL39L_HUMAN ribosomal protein L39-like 8 spermatogenesis|translation cytosolic large ribosomal subunit structural constituent of ribosome all_cancers(143;2.61e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.87e-18) GBM - Glioblastoma multiforme(93;0.0745) TCGCTTAATGGTGAAAGTCTT 0.448000 42 88 0 0 1 0 0 OLFML2A 169611 broad.mit.edu 37 9 127549502 127549502 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:127549502G>A ENST00000373580.3 + 2 339 c.339G>A c.(337-339)gcG>gcA p.A113A NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 113 p.A113A(1) endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 AAAAGCAGGCGCCCGAGCTCC 0.572000 20 49 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 4 19 0 0 1 0 0 MECR 51102 broad.mit.edu 37 1 29533365 29533365 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:29533365C>T ENST00000373791.3 - 4 603 c.231G>A c.(229-231)ccG>ccA p.P77P MECR_ENST00000263702.6_Silent_p.P153P|MECR_ENST00000489248.1_5'UTR NM_001024732.1|NM_016011.2 NP_001019903.1|NP_057095.2 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 153 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) GGATGTCACTCGGAACTTGGA 0.567000 4 97 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31934589 31934589 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:31934589G>A ENST00000375394.2 + 19 2419 c.2306G>A c.(2305-2307)aGc>aAc p.S769N SKIV2L_ENST00000544581.1_Missense_Mutation_p.S576N NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 769 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 ATGAAGAGGAGCTTCTCTGAG 0.562000 29 82 0 0 1 0 0 LPPR3 79948 broad.mit.edu 37 19 814640 814640 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:814640C>T ENST00000359894.2 - 6 772 c.709G>A c.(709-711)Gag>Aag p.E237K LPPR3_ENST00000520876.3_Intron NM_024888.2 NP_079164.1 Q6T4P5 LPPR3_HUMAN 219 integral to membrane phosphatidate phosphatase activity AGGGAGGGCTCCCCACGGGTC 0.652000 4 90 0 0 1 0 0 MBD3 53615 broad.mit.edu 37 19 1585084 1585084 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:1585084G>A ENST00000590550.2 - 1 445 c.72C>T c.(70-72)cgC>cgT p.R24R MBD3_ENST00000156825.1_Silent_p.R80R|MBD3_ENST00000434436.3_Silent_p.R80R|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Silent_p.R48R O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 80 MBD. transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CGTAGCGCACGCGCTGGCGGC 0.662000 8 44 0 0 1 0 0 P2RX4 5025 broad.mit.edu 37 12 121666390 121666390 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:121666390C>G ENST00000337233.4 + 6 887 c.579C>G c.(577-579)atC>atG p.I193M P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.I209M|P2RX4_ENST00000543171.1_Missense_Mutation_p.I92M|P2RX4_ENST00000541532.1_3'UTR NM_001261397.1|NM_001261398.1|NM_002560.2 NP_001248326.1|NP_001248327.1|NP_002551.2 Q99571 P2RX4_HUMAN purinergic receptor P2X, ligand-gated ion channel, 4 193 endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGAACAACATCTGGTATCCCA 0.373000 5 32 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134223689 134223689 + Silent SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:134223689C>G ENST00000359579.4 + 9 1148 c.828C>G c.(826-828)gtC>gtG p.V276V NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 276 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 CTTTCCAGGTCTTTGACTTTA 0.483000 4 57 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78513418 78513418 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:78513418G>T ENST00000397909.2 + 15 3615 c.3442G>T c.(3442-3444)Ggc>Tgc p.G1148C NAV3_ENST00000228327.6_Missense_Mutation_p.G1148C|NAV3_ENST00000536525.2_Missense_Mutation_p.G1148C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1148C Q8IVL0 NAV3_HUMAN neuron navigator 3 1148 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAGCACCAGTGGCATTCCTGG 0.537000 HNSCC(70;0.22) 25 75 7.92952e-12 8.39472e-12 1 1 0 COL7A1 1294 broad.mit.edu 37 3 48611304 48611304 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:48611304C>T ENST00000328333.8 - 80 6628 c.6521G>A c.(6520-6522)gGc>gAc p.G2174D COL7A1_ENST00000454817.1_Missense_Mutation_p.G2142D NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2174 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCAGGGGGGCCTCTTGGACC 0.602000 5 40 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93648935 93648935 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:93648935C>T ENST00000343253.7 + 2 519 c.17C>T c.(16-18)tCa>tTa p.S6L CCDC18_ENST00000401026.3_Missense_Mutation_p.S6L|CCDC18_ENST00000557479.1_Missense_Mutation_p.S124L|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 6 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TCTAGTTCATCAGACTACTAT 0.303000 13 36 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56651665 56651665 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:56651665C>G ENST00000267116.7 - 2 179 c.58G>C c.(58-60)Gat>Cat p.D20H NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 20 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 TCCTCCACATCTCGGCTAAAG 0.637000 5 54 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197878343 197878343 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:197878343G>T ENST00000328737.2 - 18 1817 c.1741C>A c.(1741-1743)Ctg>Atg p.L581M ANKRD44_ENST00000337207.5_Missense_Mutation_p.L581M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.L598M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.L581M Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 606 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) AAGGCAGCCAGATCCAGAGCA 0.502000 9 269 1.33987e-11 1.4147e-11 1 1 0 MSLNL 401827 broad.mit.edu 37 16 823222 823222 + Silent SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:823222C>A ENST00000293892.3 - 10 2045 c.2046G>T c.(2044-2046)ctG>ctT p.L682L MSLNL_ENST00000442466.1_Silent_p.L331L Q96KJ4 MSLNL_HUMAN mesothelin-like 331 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 TGCAGCCATCCAGGCAGGACT 0.632000 4 86 0.014758 0.0148327 1 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755803 140755803 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:140755803G>A ENST00000517434.1 + 1 2153 c.2153G>A c.(2152-2154)cGc>cAc p.R718H PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACTGCAGCGCTGGCACAAG 0.647000 5 207 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64769418 64769418 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:64769418G>A ENST00000536360.1 - 2 896 c.83C>T c.(82-84)tCa>tTa p.S28L Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 28 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) AGAACTGTATGAAAGCCTGTG 0.363000 44 155 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14187459 14187459 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:14187459G>A ENST00000285021.7 - 16 3019 c.2805C>T c.(2803-2805)ttC>ttT p.F935F XPC_ENST00000449060.2_Silent_p.F898F|RP11-434D12.1_ENST00000601399.1_RNA|AC093495.4_ENST00000420253.1_RNA NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 935 Interaction with ERCC2 and GTF2H1. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GCTCAAATGGGAACAGGTGGG 0.592000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 26 77 0 0 1 0 0 EIF5A2 56648 broad.mit.edu 37 3 170625446 170625446 + Missense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:170625446C>A ENST00000295822.2 - 2 335 c.150G>T c.(148-150)aaG>aaT p.K50N EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000487522.1_Missense_Mutation_p.K50N|EIF5A2_ENST00000474096.1_Missense_Mutation_p.K50N NM_020390.5 NP_065123.1 Q9GZV4 IF5A2_HUMAN eukaryotic translation initiation factor 5A2 50 mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport cytosol|endoplasmic reticulum membrane|nuclear pore protein binding|ribosome binding|translation elongation factor activity large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15) CATGACCATGCTTTCCAGTTT 0.468000 57 144 7.41606e-26 8.00047e-26 1 1 0 SLC6A5 9152 broad.mit.edu 37 11 20648345 20648345 + Nonsense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:20648345G>A ENST00000525748.1 + 8 1625 c.1352G>A c.(1351-1353)tGg>tAg p.W451* NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 451 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GCTGGGATCTGGTACTTCATC 0.557000 35 124 0 0 1 0 0 SCAMP3 10067 broad.mit.edu 37 1 155227141 155227141 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:155227141G>A ENST00000355379.3 - 6 914 c.636C>T c.(634-636)ttC>ttT p.F212F SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Silent_p.F238F NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 238 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CGAAGAAAATGAAGAAGAAAA 0.473000 8 28 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106321164 106321164 + RNA SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:106321164C>T ENST00000390559.2 - 0 824 TGGGGTGGCTCTCGGAGATGT 0.597000 28 55 0 0 1 0 0 GNAI1 2770 broad.mit.edu 37 7 79840284 79840284 + Splice_Site SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:79840284G>C ENST00000351004.3 + 6 963 c.e6-1 GNAI1_ENST00000457358.2_Splice_Site NM_002069.5 NP_002060.4 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 CCTCTTAACAGAATGTTTGAT 0.398000 24 64 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72184108 72184108 + Nonsense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:72184108G>T ENST00000340726.3 - 10 1490 c.851C>A c.(850-852)tCa>tAa p.S284* EYA1_ENST00000303824.7_Nonsense_Mutation_p.S278*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.S250*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.S284*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.S279*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.S251*|EYA1_ENST00000388743.2_Nonsense_Mutation_p.S283* NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 284 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AATGGGTGTTGATGGGCTGTG 0.448000 10 322 0.000673444 0.000682034 1 1 0 ATF4 468 broad.mit.edu 37 22 39917485 39917485 + Missense_Mutation SNP T T C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:39917485T>C ENST00000337304.2 + 1 917 c.35T>C c.(34-36)tTg>tCg p.L12S ATF4_ENST00000404241.2_Missense_Mutation_p.L12S|ATF4_ENST00000396680.1_Missense_Mutation_p.L12S NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 12 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) AGCGAGGTGTTGGTGGGGGAC 0.517000 36 105 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31737492 31737492 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:31737492G>T ENST00000375686.3 - 9 1514 c.1277C>A c.(1276-1278)aCc>aAc p.T426N VWA7_ENST00000375688.4_Missense_Mutation_p.T426N|VWA7_ENST00000447450.1_Missense_Mutation_p.T426N|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 426 extracellular region CACCTGGTTGGTGAGAAAGGC 0.597000 7 132 0.0293803 0.0294545 1 1 0 OR52N2 390077 broad.mit.edu 37 11 5842217 5842217 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:5842217G>A ENST00000317037.2 + 1 674 c.652G>A c.(652-654)Gta>Ata p.V218I TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTATCTCTGTATCTTACAC 0.448000 7 219 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94027950 94027950 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:94027950C>G ENST00000370244.1 - 14 2614 c.2326G>C c.(2326-2328)Gaa>Caa p.E776Q BCAR3_ENST00000539242.1_Missense_Mutation_p.E452Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.E776Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.E685Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.E776Q NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 776 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TTGCAGATTTCATTCATTTCT 0.353000 27 49 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5699628 5699628 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:5699628C>G ENST00000305836.5 - 4 852 c.550G>C c.(550-552)Gat>Cat p.D184H TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_Missense_Mutation_p.D184H|TRIM5_ENST00000380027.1_Missense_Mutation_p.D184H|TRIM5_ENST00000396853.4_Missense_Mutation_p.D184H|TRIM5_ENST00000396855.3_Missense_Mutation_p.D184H|TRIM5_ENST00000380034.3_Missense_Mutation_p.D184H Q9C035 TRIM5_HUMAN tripartite motif containing 5 184 interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TGCTCAAAATCTGCCAAGACG 0.468000 4 128 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97852281 97852281 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:97852281C>T ENST00000354565.2 + 1 740 c.740C>T c.(739-741)tCt>tTt p.S247F RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 CATCTCTTCTCTGTCTCTTTA 0.413000 38 92 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42266425 42266425 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:42266425C>G ENST00000319511.6 + 2 661 c.11C>G c.(10-12)tCt>tGt p.S4C TMUB2_ENST00000538716.2_Missense_Mutation_p.S24C|TMUB2_ENST00000589184.1_Missense_Mutation_p.S4C|TMUB2_ENST00000587172.1_Missense_Mutation_p.S4C|TMUB2_ENST00000587989.1_Missense_Mutation_p.S24C|TMUB2_ENST00000446571.3_Missense_Mutation_p.S4C|TMUB2_ENST00000592825.1_Missense_Mutation_p.S4C|TMUB2_ENST00000357984.3_Missense_Mutation_p.S4C|TMUB2_ENST00000590235.1_Missense_Mutation_p.S4C|TMUB2_ENST00000589785.1_Missense_Mutation_p.S4C|TMUB2_ENST00000589856.1_Missense_Mutation_p.S4C NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 24 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) ATGGAGCTCTCTGATGTCACC 0.572000 24 41 0 0 1 0 0 ATOH7 220202 broad.mit.edu 37 10 69991147 69991147 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:69991147C>T ENST00000373673.3 - 1 724 c.288G>A c.(286-288)ctG>ctA p.L96L NM_145178.3 NP_660161.1 Q8N100 ATOH7_HUMAN atonal homolog 7 (Drosophila) 96 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding CGGCCTCGGCCAGGATCCGGG 0.647000 6 36 0 0 1 0 0 ISG20L2 81875 broad.mit.edu 37 1 156693183 156693183 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:156693183G>C ENST00000313146.6 - 3 1802 c.1020C>G c.(1018-1020)gtC>gtG p.V340V ISG20L2_ENST00000368219.1_Silent_p.V340V|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 340 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTCCCACTCGACTTCAACCA 0.557000 65 184 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19762952 19762952 + Nonsense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr18:19762952C>G ENST00000269216.3 + 6 1845 c.1568C>G c.(1567-1569)tCa>tGa p.S523* GATA6_ENST00000581694.1_Nonsense_Mutation_p.S523* NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 523 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) TCTTCTAACTCAGATGATTGC 0.388000 25 85 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684915 100684915 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:100684915C>T ENST00000306151.4 + 3 10282 c.10218C>T c.(10216-10218)gtC>gtT p.V3406V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3406 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTATGCCTGTCAGCACCACGC 0.493000 24 634 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158613167 158613167 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:158613167C>T ENST00000368148.3 - 31 4567 c.4387G>A c.(4387-4389)Gat>Aat p.D1463N SPTA1_ENST00000368147.3_Missense_Mutation_p.D1463N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1463 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TAGTGTTCATCAGCAATGAGG 0.448000 18 44 0 0 1 0 0 CLCA2 9635 broad.mit.edu 37 1 86896618 86896618 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:86896618C>G ENST00000370565.4 + 4 711 c.549C>G c.(547-549)ttC>ttG p.F183L NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 183 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ACAAACCTTTCTACATAAATG 0.353000 33 79 0 0 1 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52035228 52035228 + RNA SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr13:52035228G>A ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000596180.1_RNA GTGCTAACCTGGGAAGAATTG 0.443000 4 37 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033179 82033179 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:82033179C>T ENST00000328945.5 - 3 846 c.719G>A c.(718-720)aGa>aAa p.R240K NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 240 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 CTTGTCAGCTCTCAGGGCTTC 0.557000 8 179 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58489953 58489953 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:58489953G>A ENST00000341164.4 - 7 2715 c.2095C>T c.(2095-2097)Cgg>Tgg p.R699W ZNF606_ENST00000536132.1_Missense_Mutation_p.R609W NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 699 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TGAGTTCTCCGGTGTGCAATG 0.408000 20 72 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36216480 36216480 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:36216480G>A ENST00000222270.7 + 12 3743 c.3743G>A c.(3742-3744)cGc>cAc p.R1248H KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.R1248H NM_014727.1 NP_055542.1 TGCTGCCGTCGCTGCAAATTC 0.632000 63 169 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961243 51961243 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:51961243C>G ENST00000321424.3 - 1 465 c.399G>C c.(397-399)tgG>tgC p.W133C SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W133C|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.W133C NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 133 cell adhesion integral to membrane sugar binding|transmembrane receptor activity p.W133C(1) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATTTGTAACTCCATTTCATGC 0.502000 5 164 0 0 1 0 0 INTS4P2 644619 broad.mit.edu 37 7 65154392 65154392 + RNA SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:65154392C>T ENST00000430126.2 + 0 876 ACCAAGTACCCTACTGATAGG 0.408000 11 31 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62398117 62398117 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:62398117G>C ENST00000346178.4 - 12 1423 c.1408C>G c.(1408-1410)Cag>Gag p.Q470E GANAB_ENST00000534779.1_Missense_Mutation_p.Q356E|GANAB_ENST00000356638.3_Missense_Mutation_p.Q448E|GANAB_ENST00000540933.1_Missense_Mutation_p.Q351E NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 448 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GTGCGGGGCTGAGGGAAGCGA 0.547000 9 50 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131256853 131256853 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:131256853C>T ENST00000303890.5 + 19 2330 c.1745C>T c.(1744-1746)aCg>aTg p.T582M ODF2_ENST00000393533.2_Missense_Mutation_p.T606M|ODF2_ENST00000372791.3_Missense_Mutation_p.T587M|ODF2_ENST00000448249.3_Missense_Mutation_p.T525M|ODF2_ENST00000434106.2_Missense_Mutation_p.T606M|ODF2_ENST00000546203.1_Missense_Mutation_p.T587M|ODF2_ENST00000372807.5_Missense_Mutation_p.T601M|ODF2_ENST00000351030.3_Missense_Mutation_p.T601M|ODF2_ENST00000444119.2_Missense_Mutation_p.T582M|ODF2_ENST00000372796.4_Missense_Mutation_p.T606M|ODF2_ENST00000372814.3_Missense_Mutation_p.T650M NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 606 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CTGAAGATCACGGAGGCGAAG 0.567000 33 70 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35443662 35443662 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr20:35443662G>A ENST00000237536.4 - 5 2524 c.2183C>T c.(2182-2184)aCg>aTg p.T728M SOGA1_ENST00000279034.5_Missense_Mutation_p.T490M|SOGA1_ENST00000456801.2_Missense_Mutation_p.T331M|SOGA1_ENST00000357779.3_Missense_Mutation_p.T490M NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 490 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 TGCCTTCCGCGTGAAGGCATT 0.622000 33 97 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111628751 111628751 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:111628751G>A ENST00000435970.1 - 33 9647 c.8831C>T c.(8830-8832)tCg>tTg p.S2944L REV3L_ENST00000368805.1_Missense_Mutation_p.S3022L|REV3L_ENST00000358835.3_Missense_Mutation_p.S3022L|REV3L_ENST00000368802.3_Missense_Mutation_p.S3022L|REV3L_ENST00000462119.1_5'UTR O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 3022 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTCACTTCGCGAGGAGCTGGT 0.423000 DNA polymerases (catalytic subunits) 21 50 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113330987 113330987 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:113330987C>G ENST00000264852.4 + 19 2638 c.1912C>G c.(1912-1914)Ctg>Gtg p.L638V SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.L638V NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 638 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 AATCCACGTTCTGGCCTCGCT 0.418000 15 45 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8020224 8020224 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:8020224G>A ENST00000380149.1 - 2 720 c.690C>T c.(688-690)taC>taT p.Y230Y ALOXE3_ENST00000448843.2_Silent_p.Y74Y|ALOXE3_ENST00000318227.3_Silent_p.Y206Y Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 74 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 GGAAGAAAGCGTAGCGCTCCT 0.557000 27 48 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56904069 56904069 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:56904069C>T ENST00000438926.2 + 5 692 c.663C>T c.(661-663)ctC>ctT p.L221L SLC12A3_ENST00000566786.1_Silent_p.L220L|SLC12A3_ENST00000563236.1_Silent_p.L221L|SLC12A3_ENST00000262502.5_Silent_p.L220L NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 221 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CCATCGGCCTCATTTTCGCTT 0.637000 34 95 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47660785 47660785 + Missense_Mutation SNP T T A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr21:47660785T>A ENST00000397708.1 - 27 5827 c.5573A>T c.(5572-5574)gAg>gTg p.E1858V MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1858V|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1858 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CAAGAGCTCCTCAGCAGAAGC 0.517000 7 153 0 0 1 0 0 BCAS2 10286 broad.mit.edu 37 1 115110828 115110828 + Nonsense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:115110828G>A ENST00000369541.3 - 7 648 c.601C>T c.(601-603)Cag>Tag p.Q201* BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 201 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTTCTAGCTGAACAATAGTC 0.368000 39 107 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70418920 70418920 + Silent SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:70418920C>A ENST00000381280.4 + 2 418 c.165C>A c.(163-165)atC>atA p.I55I SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.I55I NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 55 Kazal-like. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CCAAACCCATCTGTGCCTCTG 0.537000 46 102 1.41504e-22 1.51829e-22 1 1 0 ADAM28 10863 broad.mit.edu 37 8 24207413 24207413 + Missense_Mutation SNP C C T rs139883608 by1000genomes TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:24207413C>T ENST00000265769.4 + 19 2137 c.2027C>T c.(2026-2028)gCg>gTg p.A676V RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G424G|RP11-624C23.1_ENST00000518988.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 676 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.A676V(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TTCCCAATGGCGGTCATTTTT 0.502000 41 140 0 0 1 0 0 SEC61A2 55176 broad.mit.edu 37 10 12191690 12191690 + Missense_Mutation SNP C C T rs146484607 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:12191690C>T ENST00000379033.3 + 4 398 c.251C>T c.(250-252)cCg>cTg p.P84L SEC61A2_ENST00000379020.4_Missense_Mutation_p.P106L|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Missense_Mutation_p.P106L|SEC61A2_ENST00000304267.8_Missense_Mutation_p.P106L|SEC61A2_ENST00000379051.1_Missense_Mutation_p.P106L|SEC61A2_ENST00000298428.9_Missense_Mutation_p.P106L NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 106 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) GGAGATACACCGAAAGATAGA 0.393000 18 87 0 0 1 0 0 MCU 90550 broad.mit.edu 37 10 74620268 74620268 + Missense_Mutation SNP T T C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:74620268T>C ENST00000536019.1 + 4 777 c.332T>C c.(331-333)gTa>gCa p.V111A MCU_ENST00000357157.6_Missense_Mutation_p.V160A|MCU_ENST00000373053.3_Missense_Mutation_p.V160A NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 160 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 ACATACCACGTACGACCACCA 0.398000 25 59 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447434 10447434 + Silent SNP C C T rs111972960 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:10447434C>T ENST00000326756.3 - 3 957 c.519G>A c.(517-519)acG>acA p.T173T NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ACTCTCCTTTCGTATACGAAA 0.398000 4 132 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47660829 47660829 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr21:47660829C>T ENST00000397708.1 - 27 5783 c.5529G>A c.(5527-5529)ggG>ggA p.G1843G MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.G1843G|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1843 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGGGAATCCTCCCCTCTTGAG 0.502000 5 163 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78062034 78062034 + Missense_Mutation SNP A A G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:78062034A>G ENST00000299642.4 + 2 258 c.173A>G c.(172-174)gAa>gGa p.E58G CLEC3A_ENST00000575655.1_Missense_Mutation_p.E49G|RP11-281J9.2_ENST00000563114.1_RNA NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 49 skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 ACTCAAATTGAAAAGCTCTGG 0.438000 31 70 0 0 1 0 0 ARMCX6 54470 broad.mit.edu 37 X 100871295 100871295 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chrX:100871295G>C ENST00000539247.1 - 4 748 c.316C>G c.(316-318)Ccc>Gcc p.P106A ARMCX6_ENST00000361910.4_Missense_Mutation_p.P106A|ARMCX6_ENST00000538627.1_Missense_Mutation_p.P106A|ARMCX6_ENST00000497931.1_Intron NM_001184768.1 NP_001171697.1 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 106 integral to membrane endometrium(3)|kidney(1)|liver(2)|lung(3) 9 TGTTCATAGGGGAATGGCCGC 0.502000 7 118 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63662785 63662785 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:63662785C>T ENST00000402010.2 + 2 788 c.209C>T c.(208-210)gCc>gTc p.A70V MARK2_ENST00000408948.3_Missense_Mutation_p.A37V|MARK2_ENST00000425897.2_Missense_Mutation_p.A37V|MARK2_ENST00000413835.2_Missense_Mutation_p.A70V|MARK2_ENST00000502399.3_Missense_Mutation_p.A70V|MARK2_ENST00000350490.7_Missense_Mutation_p.A70V|MARK2_ENST00000361128.5_Missense_Mutation_p.A70V|MARK2_ENST00000315032.8_Missense_Mutation_p.A70V|MARK2_ENST00000377810.3_Missense_Mutation_p.A37V|MARK2_ENST00000513765.2_Missense_Mutation_p.A37V|MARK2_ENST00000377809.4_Missense_Mutation_p.A70V|MARK2_ENST00000509502.2_Missense_Mutation_p.A37V|MARK2_ENST00000508192.1_Missense_Mutation_p.A70V NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 70 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GTGAAGTTGGCCCGACACATC 0.577000 4 98 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49755598 49755598 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:49755598G>A ENST00000535833.1 - 10 4751 c.1301C>T c.(1300-1302)tCa>tTa p.S434L AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000433785.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 434 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTGAGTACTGAGGACTGTGC 0.692000 8 233 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160134055 160134055 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:160134055C>T ENST00000368081.4 + 7 1359 c.888C>T c.(886-888)atC>atT p.I296I NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 296 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.I296I(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGCTGAGATCGAACACTTCA 0.542000 10 185 0 0 1 0 0 TCP11L1 55346 broad.mit.edu 37 11 33076194 33076194 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:33076194C>T ENST00000334274.4 + 3 619 c.219C>T c.(217-219)gtC>gtT p.V73V TCP11L1_ENST00000432887.1_Silent_p.V73V|TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000531632.2_Silent_p.V73V NM_018393.3 NP_060863.3 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 73 kidney(1)|liver(2)|lung(2)|skin(1) 6 CGAGAGGTGTCACCAACATGG 0.418000 37 101 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 408579 408579 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:408579G>T ENST00000280886.6 - 22 2732 c.2645C>A c.(2644-2646)gCa>gAa p.A882E DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.A203E NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 882 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GAGGGTGTTTGCTGGCACCAA 0.443000 18 70 1.33834e-09 1.40561e-09 1 1 0 MCM3AP 8888 broad.mit.edu 37 21 47660786 47660786 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr21:47660786C>T ENST00000397708.1 - 27 5826 c.5572G>A c.(5572-5574)Gag>Aag p.E1858K MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1858K|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1858 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AAGAGCTCCTCAGCAGAAGCT 0.512000 7 153 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33373367 33373367 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:33373367C>T ENST00000303296.4 + 15 3326 c.3021C>T c.(3019-3021)gcC>gcT p.A1007A HIPK3_ENST00000379016.3_Silent_p.A986A|HIPK3_ENST00000525975.1_Silent_p.A986A|HIPK3_ENST00000456517.1_Silent_p.A986A NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 1007 Required for localization to nuclear speckles (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 GCTTAAATGCCGATGAGCATA 0.433000 7 32 0 0 1 0 0 PAK1 5058 broad.mit.edu 37 11 77091019 77091019 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:77091019C>G ENST00000356341.3 - 3 742 c.211G>C c.(211-213)Gag>Cag p.E71Q PAK1_ENST00000530617.1_Missense_Mutation_p.E71Q|PAK1_ENST00000528203.1_5'UTR|PAK1_ENST00000278568.4_Missense_Mutation_p.E71Q NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 71 Autoregulatory region. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) TCTGGCCGCTCTTTCTCTTTC 0.388000 4 61 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949845 27949845 + Silent SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:27949845C>G ENST00000379992.2 - 6 1274 c.825G>C c.(823-825)ctG>ctC p.L275L LINGO2_ENST00000308675.3_Silent_p.L275L NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 275 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TAAGGTGAGTCAGGTATACCA 0.502000 29 176 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118770865 118770865 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:118770865G>A ENST00000334801.3 - 7 4131 c.3167C>T c.(3166-3168)cCt>cTt p.P1056L BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1056 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GTTGGCGGGAGGTGCTGAGGA 0.632000 16 57 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7218340 7218340 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:7218340G>C ENST00000380728.2 - 2 332 c.32C>G c.(31-33)tCc>tGc p.S11C GPS2_ENST00000391950.3_Missense_Mutation_p.S11C|GPS2_ENST00000389167.5_Missense_Mutation_p.S11C|RP11-542C16.2_ENST00000575474.1_3'UTR Q13227 GPS2_HUMAN G protein pathway suppressor 2 11 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) CATGGCGTTGGAAAGCTTGGG 0.711000 OREG0006475 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=GPS2|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 4 10 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32052762 32052762 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:32052762C>G ENST00000438447.1 + 9 2099 c.1711C>G c.(1711-1713)Cag>Gag p.Q571E PDZD2_ENST00000282493.3_Missense_Mutation_p.Q571E O15018 PDZD2_HUMAN PDZ domain containing 2 571 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAGCACGACTCAGGTGGAATC 0.463000 8 159 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132529947 132529947 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:132529947C>T ENST00000333577.4 + 39 7085 c.6976C>T c.(6976-6978)Ctg>Ttg p.L2326L EP400_ENST00000332482.4_Silent_p.L2253L|EP400_ENST00000389562.2_Silent_p.L2289L|EP400_ENST00000389561.2_Silent_p.L2290L|EP400_ENST00000330386.6_Silent_p.L2209L Q96L91 EP400_HUMAN E1A binding protein p400 2326 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACCAGGACTTCTGAAAATTCG 0.572000 15 35 0 0 1 0 0 SNX18 112574 broad.mit.edu 37 5 53815305 53815305 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:53815305C>T ENST00000343017.6 + 1 1717 c.1523C>T c.(1522-1524)gCg>gTg p.A508V SNX18_ENST00000381410.4_Missense_Mutation_p.A508V|SNX18_ENST00000326277.3_Missense_Mutation_p.A508V NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 508 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) GAGCTCTTCGCGGAGCAGCCC 0.597000 4 130 0 0 1 0 0 SZRD1 26099 broad.mit.edu 37 1 16719858 16719858 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:16719858C>T ENST00000401088.4 + 3 412 c.237C>T c.(235-237)agC>agT p.S79S SZRD1_ENST00000471507.1_Silent_p.S78S|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000492354.1_Silent_p.S59S|SZRD1_ENST00000375590.3_Silent_p.S59S|SZRD1_ENST00000401089.3_Silent_p.S60S NM_001114600.1|NM_001271869.1 NP_001108072.1|NP_001258798.1 SUZ RNA binding domain containing 1 ACTCCACCAGCAGGCCCACCC 0.672000 44 101 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156520136 156520136 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:156520136C>T ENST00000361170.2 - 16 1752 c.1742G>A c.(1741-1743)gGg>gAg p.G581E NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 581 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCAGGATCCCCTGTCACCTG 0.537000 14 27 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11752727 11752727 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:11752727C>T ENST00000381486.2 + 19 3413 c.3113C>T c.(3112-3114)tCc>tTc p.S1038F GREB1_ENST00000234142.5_Missense_Mutation_p.S1038F|GREB1_ENST00000396123.1_Missense_Mutation_p.S36F NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1038 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CATGGGGAGTCCTTGCCGAGG 0.617000 18 63 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101829594 101829594 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:101829594C>T ENST00000370418.3 - 3 704 c.453G>A c.(451-453)agG>agA p.R151R NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 151 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TTGCATTGTTCCTGCCAACTA 0.418000 24 68 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223987650 223987650 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:223987650C>T ENST00000391878.2 - 12 1817 c.1049G>A c.(1048-1050)gGt>gAt p.G350D TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.G479D|TP53BP2_ENST00000498843.1_5'UTR NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 473 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CCTCAGAGTACCAAAGGAAGG 0.433000 10 54 0 0 1 0 0 FAM115C 285966 broad.mit.edu 37 7 143421718 143421718 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:143421718C>G ENST00000441159.2 + 7 2499 c.2433C>G c.(2431-2433)atC>atG p.I811M FAM115C_ENST00000411497.2_Missense_Mutation_p.I530M|FAM115C_ENST00000411935.1_Missense_Mutation_p.I707M|FAM115C_ENST00000444908.2_Missense_Mutation_p.I811M|FAM115C_ENST00000425618.2_Missense_Mutation_p.I530M|FAM115C_ENST00000409703.3_Missense_Mutation_p.I707M|FAM115C_ENST00000357344.4_Missense_Mutation_p.I811M A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 811 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 AGAGGAGAATCAAGGCCCACC 0.567000 12 47 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38176142 38176142 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:38176142C>T ENST00000394126.1 - 24 3242 c.2824G>A c.(2824-2826)Gct>Act p.A942T MED24_ENST00000394128.2_Missense_Mutation_p.A917T|MED24_ENST00000356271.3_Missense_Mutation_p.A904T|MED24_ENST00000394127.2_Missense_Mutation_p.A904T|MED24_ENST00000501516.3_Missense_Mutation_p.A936T O75448 MED24_HUMAN mediator complex subunit 24 917 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) TGGGGGCCAGCGGTGCGAGAC 0.622000 4 2 0 0 1 0 0 SAE1 10055 broad.mit.edu 37 19 47656163 47656163 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:47656163G>C ENST00000413379.3 + 4 495 c.393G>C c.(391-393)ctG>ctC p.L131L SAE1_ENST00000598840.1_Intron|SAE1_ENST00000540850.1_Intron|SAE1_ENST00000392776.3_Silent_p.L131L|SAE1_ENST00000270225.7_Silent_p.L131L NM_001145713.1 NP_001139185.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 131 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) AGGTGTGTCTGACTTGCTGCT 0.398000 7 189 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887527 12887527 + Silent SNP A A G rs2486716 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:12887527A>G ENST00000535591.1 - 3 525 c.330T>C c.(328-330)ttT>ttC p.F110F NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 110 p.F110F(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AAAGTTCTACAAACACAGTCA 0.498000 6 453 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169227642 169227642 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:169227642G>A ENST00000393743.3 - 5 785 c.494C>T c.(493-495)tCt>tTt p.S165F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 165 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CCTTGCCCAAGAATGAATGAT 0.413000 4 91 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12017008 12017008 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:12017008G>A ENST00000196061.4 + 7 705 c.678G>A c.(676-678)gtG>gtA p.V226V PLOD1_ENST00000376369.3_Silent_p.V273V|PLOD1_ENST00000485046.1_3'UTR NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 226 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) TGGGCCATGTGAGAGCGAGGA 0.622000 38 86 0 0 1 0 0 DPH5 51611 broad.mit.edu 37 1 101467118 101467118 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:101467118G>A ENST00000370109.3 - 5 507 c.395C>T c.(394-396)tCt>tTt p.S132F DPH5_ENST00000342173.7_Missense_Mutation_p.S132F|DPH5_ENST00000488176.1_Missense_Mutation_p.S132F|DPH5_ENST00000370105.3_5'UTR NM_001077394.1|NM_001077395.1|NM_015958.2 NP_001070862.1|NP_001070863.1|NP_057042.2 Q9H2P9 DPH5_HUMAN diphthamide biosynthesis 5 132 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity endometrium(2)|large_intestine(1)|lung(4) 7 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) AAAAACAATAGAAACTGTCTC 0.303000 7 25 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66102902 66102902 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:66102902C>G ENST00000311320.4 - 5 649 c.523G>C c.(523-525)Gag>Cag p.E175Q RIN1_ENST00000530056.1_Missense_Mutation_p.E70Q|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.E70Q NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 175 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 GAGATGGCCTCCAGCTCTTTG 0.622000 12 43 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7244099 7244099 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:7244099G>A ENST00000542285.1 - 2 326 c.177C>T c.(175-177)ttC>ttT p.F59F P00736 C1R_HUMAN complement component 1, r subcomponent 60 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CAAACTGCTGGAAGACGAGCT 0.557000 10 16 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10663612 10663612 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:10663612G>A ENST00000309469.4 + 10 1467 c.1294G>A c.(1294-1296)Gag>Aag p.E432K ATG4D_ENST00000540862.1_Missense_Mutation_p.E99K NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 432 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity p.E432K(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CACCCTGGCCGAGGGCCATGC 0.662000 5 120 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213405586 213405586 + Missense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:213405586C>A ENST00000366960.3 + 10 1363 c.1213C>A c.(1213-1215)Cag>Aag p.Q405K RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Q108K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Q193K|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Q393K NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 405 Protein kinase 1. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) TCTTGTGCTGCAGCATGCGGA 0.448000 42 175 4.18559e-23 4.50319e-23 1 1 0 GOLGB1 2804 broad.mit.edu 37 3 121413052 121413052 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:121413052C>G ENST00000393667.3 - 13 6428 c.6318G>C c.(6316-6318)ttG>ttC p.L2106F GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2101F NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2101 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GTTCCTTTTTCAACTTGAGAT 0.423000 5 171 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74831832 74831832 + Nonsense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:74831832C>A ENST00000412021.2 - 5 613 c.280G>T c.(280-282)Gag>Tag p.E94* P4HA1_ENST00000394890.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000440381.1_Nonsense_Mutation_p.E94*|P4HA1_ENST00000307116.2_Nonsense_Mutation_p.E94*|P4HA1_ENST00000263556.3_Nonsense_Mutation_p.E94*|P4HA1_ENST00000373008.2_Nonsense_Mutation_p.E94*|RP11-344N10.2_ENST00000431293.2_RNA NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 94 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCACTCCACTCAGTATTCAGA 0.388000 38 156 4.0492e-12 4.29821e-12 1 1 0 GIGYF2 26058 broad.mit.edu 37 2 233651923 233651923 + Nonsense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:233651923C>G ENST00000373566.3 + 10 859 c.662C>G c.(661-663)tCa>tGa p.S221* GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 199 Arg-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTTATACGCTCAGAAAGTGAA 0.423000 29 38 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563543 55563543 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:55563543C>G ENST00000335605.1 + 1 512 c.512C>G c.(511-513)tCt>tGt p.S171C NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S171Y(1)|p.S171F(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TTAAACTTCTCTGGACCTAAT 0.493000 8 221 0 0 1 0 0 RPS6KB1 6198 broad.mit.edu 37 17 58013586 58013586 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:58013586G>C ENST00000225577.4 + 11 1010 c.989G>C c.(988-990)aGa>aCa p.R330T RPS6KB1_ENST00000406116.3_Missense_Mutation_p.R330T|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.R307T|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.R277T NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 330 Protein kinase. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) CTGCTGAAAAGAAATGCTGCT 0.408000 22 76 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25264737 25264737 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:25264737C>T ENST00000400358.4 + 12 1263 c.1206C>T c.(1204-1206)gcC>gcT p.A402A SGSM1_ENST00000400359.4_Silent_p.A402A NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 402 Golgi apparatus Rab GTPase activator activity p.A402A(2) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AGGGTTCTGCCGAGTCCACAT 0.517000 4 149 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149582169 149582169 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:149582169C>T ENST00000230671.2 + 8 1361 c.990C>T c.(988-990)aaC>aaT p.N330N SLC6A7_ENST00000524041.1_Silent_p.N330N NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 330 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity p.N330N(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) CTCTGGGCAACGCCATCACCA 0.602000 35 84 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53352349 53352349 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:53352349C>T ENST00000595646.1 - 3 253 c.133G>A c.(133-135)Gtc>Atc p.V45I ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000243639.4_Missense_Mutation_p.V45I|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_5'UTR Q5VIY5 ZN468_HUMAN zinc finger protein 468 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V45I(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) CCCAGGGAGACGAGGTTCCTA 0.483000 43 268 0 0 1 0 0 ACRBP 84519 broad.mit.edu 37 12 6753358 6753358 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:6753358C>T ENST00000229243.2 - 5 982 c.889G>A c.(889-891)Gaa>Aaa p.E297K ACRBP_ENST00000536350.1_Missense_Mutation_p.E297K|ACRBP_ENST00000414226.2_Missense_Mutation_p.E264K NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 297 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 TCATTCATTTCATCTATTTCC 0.458000 43 76 0 0 1 0 0 NUBP2 10101 broad.mit.edu 37 16 1837974 1837974 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:1837974G>A ENST00000262302.9 + 5 642 c.522G>A c.(520-522)ctG>ctA p.L174L NUBP2_ENST00000568706.1_Silent_p.L33L|NUBP2_ENST00000543305.1_Silent_p.L33L|NUBP2_ENST00000565987.1_Silent_p.L114L|NUBP2_ENST00000565134.1_Silent_p.L174L NM_012225.2 NP_036357.1 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 174 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 GGCGCGAGCTGACCTTCTGTA 0.682000 29 106 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152287145 152287145 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:152287145C>G ENST00000368799.1 - 3 252 c.217G>C c.(217-219)Gag>Cag p.E73Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 73 EF-hand 2. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGAAGAAACTCAGTGAAGTCA 0.403000 Ichthyosis 19 61 0 0 1 0 0 REL 5966 broad.mit.edu 37 2 61118956 61118956 + Missense_Mutation SNP T T C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:61118956T>C ENST00000295025.7 + 2 469 c.149T>C c.(148-150)aTc>aCc p.I50T REL_ENST00000394479.3_Missense_Mutation_p.I50T NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog 50 RHD. positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) TACCCTTCTATCCAGGTAATA 0.438000 A Hodgkin Lymphoma 22 55 0 0 1 0 0 ATXN3 4287 broad.mit.edu 37 14 92572896 92572896 + Translation_Start_Site SNP T T C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:92572896T>C ENST00000545170.1 - 1 69 c.1A>G c.(1-3)Atg>Gtg p.M1V ATXN3_ENST00000429774.2_Start_Codon_SNP_p.M1V|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Start_Codon_SNP_p.M1V|ATXN3_ENST00000340660.6_Start_Codon_SNP_p.M1V|ATXN3_ENST00000393287.5_Start_Codon_SNP_p.M1V|ATXN3_ENST00000503767.1_Start_Codon_SNP_p.M1V NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 1 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) ATGGACTCCATGTTTATTTGT 0.711000 18 56 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7216782 7216782 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:7216782G>A ENST00000380728.2 - 8 941 c.641C>T c.(640-642)tCg>tTg p.S214L GPS2_ENST00000391950.3_Missense_Mutation_p.S214L|GPS2_ENST00000389167.5_Missense_Mutation_p.S214L|RP11-542C16.2_ENST00000575474.1_3'UTR Q13227 GPS2_HUMAN G protein pathway suppressor 2 214 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) AGGGAATGCCGAAGGAGCTGA 0.507000 OREG0024133 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 94 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75264827 75264827 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:75264827C>G ENST00000325680.7 + 5 2951 c.2827C>G c.(2827-2829)Cag>Gag p.Q943E YLPM1_ENST00000238571.3_Missense_Mutation_p.Q748E|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 748 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGCTGTTACTCAGCCTGTACC 0.478000 35 56 0 0 1 0 0 TRIM63 84676 broad.mit.edu 37 1 26387823 26387823 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:26387823C>T ENST00000374272.3 - 3 473 c.335G>A c.(334-336)cGg>cAg p.R112Q TRIM63_ENST00000483052.1_5'UTR NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 112 Interaction with TTN. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CTGCAGCGGCCGACTGCAGTG 0.592000 19 34 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8088840 8088840 + Missense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr18:8088840C>A ENST00000332175.8 + 11 2884 c.1847C>A c.(1846-1848)gCa>gAa p.A616E PTPRM_ENST00000400060.4_Missense_Mutation_p.A616E|PTPRM_ENST00000400053.4_Missense_Mutation_p.A554E|PTPRM_ENST00000444013.1_Missense_Mutation_p.A403E|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.A616E NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 616 Fibronectin type-III 4. 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) AGCAGAGGAGCACCTGTCAGG 0.468000 22 53 0.000175454 0.000178603 1 1 0 HYAL1 3373 broad.mit.edu 37 3 50339662 50339662 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:50339662G>A ENST00000266031.4 - 1 1341 c.726C>T c.(724-726)ctC>ctT p.L242L HYAL1_ENST00000395143.2_Silent_p.L242L|HYAL1_ENST00000395144.2_Silent_p.L242L|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Silent_p.L60L|HYAL1_ENST00000320295.8_Silent_p.L242L Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 242 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) TGCTGGGATAGAGGGCACGGC 0.597000 20 62 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32364031 32364031 + Missense_Mutation SNP T T G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:32364031T>G ENST00000454136.3 - 5 867 c.863A>C c.(862-864)tAc>tCc p.Y288S BTNL2_ENST00000374995.3_Missense_Mutation_p.Y194S|BTNL2_ENST00000429232.2_Missense_Mutation_p.Y195S|BTNL2_ENST00000414363.1_Missense_Mutation_p.Y78S|BTNL2_ENST00000544175.1_Missense_Mutation_p.Y11S|BTNL2_ENST00000540315.1_Missense_Mutation_p.Y78S|BTNL2_ENST00000374993.1_Missense_Mutation_p.Y288S Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 288 Ig-like V-type 3. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CACAGCAGGGTAACGGTGGGA 0.552000 18 32 0 0 1 0 0 OR13C9 286362 broad.mit.edu 37 9 107379601 107379601 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:107379601G>A ENST00000259362.1 - 1 884 c.885C>T c.(883-885)atC>atT p.I295I NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TAAGACTGTAGATTAAAGGAT 0.393000 45 176 0 0 1 0 0 SPPL2A 84888 broad.mit.edu 37 15 51041871 51041871 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:51041871G>A ENST00000261854.5 - 2 413 c.139C>T c.(139-141)Cct>Tct p.P47S RP11-507J18.2_ENST00000558317.1_RNA NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 47 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) GTCCAATAAGGGTTATAAAGC 0.418000 5 151 0 0 1 0 0 ZNF252P 286101 broad.mit.edu 37 8 146220599 146220599 + RNA SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:146220599G>A ENST00000426361.2 - 0 245 NR_023392.1 endometrium(1) 1 AGTGTGTTTTGAGAGCAAGGA 0.403000 30 84 0 0 1 0 0 SLC26A6 65010 broad.mit.edu 37 3 48665936 48665936 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:48665936C>T ENST00000358747.6 - 15 1918 c.1668G>A c.(1666-1668)aaG>aaA p.K556K SLC26A6_ENST00000455886.2_Silent_p.K541K|SLC26A6_ENST00000395550.2_Silent_p.K577K|SLC26A6_ENST00000337000.8_Silent_p.K470K|SLC26A6_ENST00000420764.2_Silent_p.K577K|SLC26A6_ENST00000383733.3_Silent_p.K577K NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) TGAGCAGTTTCTTCTTCTGGG 0.552000 7 150 0 0 1 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52035183 52035183 + RNA SNP A A G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr13:52035183A>G ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000596180.1_RNA ATTTCATCAAATTCGACACTG 0.463000 4 37 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675301 100675301 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:100675301G>A ENST00000306151.4 + 3 668 c.604G>A c.(604-606)Gaa>Aaa p.E202K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 202 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACTACTCCTGAAAGCACCAC 0.458000 10 305 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58601584 58601584 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:58601584C>T ENST00000240727.6 - 2 450 c.51G>A c.(49-51)ccG>ccA p.P17P ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Silent_p.P73P|ZSCAN18_ENST00000601144.1_Silent_p.P17P NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 17 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCAGATCCGGCGGGGCTGGGG 0.627000 40 94 0 0 1 0 0 SPIN4 139886 broad.mit.edu 37 X 62570369 62570369 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chrX:62570369G>C ENST00000374884.2 - 1 854 c.276C>G c.(274-276)atC>atG p.I92M SPIN4_ENST00000335144.3_Missense_Mutation_p.I110M|SPIN4-AS1_ENST00000451979.1_RNA Q56A73 SPIN4_HUMAN spindlin family, member 4 110 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 GTCGTGAATCGATACGAGGAG 0.488000 3 36 0 0 1 0 0 RBBP7 5931 broad.mit.edu 37 X 16887263 16887263 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chrX:16887263G>C ENST00000380087.2 - 2 457 c.97C>G c.(97-99)Ctg>Gtg p.L33V RBBP7_ENST00000380084.4_Missense_Mutation_p.L77V|RBBP7_ENST00000404022.1_Missense_Mutation_p.L33V Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 33 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) GTCATAACCAGGTCATATAGA 0.403000 38 24 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 74 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100537776 100537776 + Missense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:100537776C>A ENST00000268070.4 - 19 2715 c.2610G>T c.(2608-2610)tgG>tgT p.W870C NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 870 TSP type-1 3. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) AGCAGGGGCTCCACGGGCCTG 0.667000 36 65 1.04594e-18 1.11623e-18 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22155264 22155264 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:22155264C>T ENST00000397126.4 - 4 2720 c.2572G>A c.(2572-2574)Gag>Aag p.E858K ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TAGGGTTTCTCTCCAGTATGA 0.378000 4 82 0 0 1 0 0 AGTRAP 57085 broad.mit.edu 37 1 11807587 11807587 + Nonsense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:11807587C>T ENST00000376637.3 + 2 243 c.118C>T c.(118-120)Cga>Tga p.R40* AGTRAP_ENST00000376627.2_Nonsense_Mutation_p.R96*|AGTRAP_ENST00000376629.4_Silent_p.I51I|AGTRAP_ENST00000510878.1_Intron|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_Nonsense_Mutation_p.R84*|AGTRAP_ENST00000400895.2_Nonsense_Mutation_p.R84*|AGTRAP_ENST00000314340.5_Silent_p.I51I NM_001040195.1 NP_001035285.1 Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 0 cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) endometrium(1)|lung(3)|prostate(1) 5 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) GGGACTCCATCGACGCCATAA 0.637000 51 126 0 0 1 0 0 OR51B6 390058 broad.mit.edu 37 11 5373015 5373015 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:5373015G>C ENST00000380219.1 + 1 278 c.278G>C c.(277-279)gGa>gCa p.G93A HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTGGCCATGGAGCCTGCTTC 0.488000 32 59 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103544224 103544224 + Missense_Mutation SNP C C T rs146954848 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:103544224C>T ENST00000358392.2 - 3 795 c.478G>A c.(478-480)Gct>Act p.A160T COL11A1_ENST00000512756.1_Missense_Mutation_p.A160T|COL11A1_ENST00000370096.3_Missense_Mutation_p.A160T|COL11A1_ENST00000353414.4_Missense_Mutation_p.A160T NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 160 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCCCGTCAGCGATGTTAACA 0.368000 15 52 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135272678 135272678 + Nonsense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:135272678C>T ENST00000285968.6 + 10 1437 c.1411C>T c.(1411-1413)Cag>Tag p.Q471* NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 471 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AGAGCCTCTTCAGACTCCGAC 0.468000 14 66 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69733177 69733177 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:69733177G>A ENST00000260363.4 + 18 2255 c.2138G>A c.(2137-2139)cGc>cAc p.R713H KIF23_ENST00000352331.4_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.R713H NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 713 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 CTACATAGGCGCTCTAACTCT 0.423000 18 31 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155167839 155167839 + Silent SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:155167839G>T ENST00000368378.3 - 18 2267 c.2247C>A c.(2245-2247)ctC>ctA p.L749L THBS3_ENST00000541576.1_Silent_p.L146L|THBS3_ENST00000457183.2_Silent_p.L629L|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000428962.2_3'UTR|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000541990.1_Silent_p.L278L NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 749 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TTACCTGGTTGAGCACAACCC 0.572000 19 45 3.32936e-07 3.45106e-07 1 1 0 SIM1 6492 broad.mit.edu 37 6 100838258 100838258 + Silent SNP A A T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:100838258A>T ENST00000369208.3 - 12 3062 c.2280T>A c.(2278-2280)gtT>gtA p.V760V SIM1_ENST00000262901.4_Silent_p.V760V P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 760 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TGGTTATTATAACAGATGTTC 0.378000 25 108 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 13 28 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47454793 47454793 + Missense_Mutation SNP A A T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:47454793A>T ENST00000398879.1 - 11 851 c.485T>A c.(484-486)tTc>tAc p.F162Y TNS3_ENST00000311160.9_Missense_Mutation_p.F162Y|TNS3_ENST00000442536.2_Missense_Mutation_p.F162Y|TNS3_ENST00000355730.3_Missense_Mutation_p.F162Y|TNS3_ENST00000458317.2_Missense_Mutation_p.F162Y Q68CZ2 TENS3_HUMAN tensin 3 162 Phosphatase tensin-type. focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CCCACTGAGGAACTGAACATA 0.532000 7 25 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36700207 36700207 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr13:36700207C>T ENST00000255448.4 - 2 279 c.68G>A c.(67-69)cGa>cAa p.R23Q DCLK1_ENST00000379892.4_Missense_Mutation_p.R23Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R23Q NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 23 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CCGCGACCCTCGGCTGTATCT 0.637000 57 105 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146720619 146720619 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:146720619C>T ENST00000392299.2 + 8 2914 c.2444C>T c.(2443-2445)aCt>aTt p.T815I GRM1_ENST00000355289.4_Missense_Mutation_p.T815I|GRM1_ENST00000492807.2_Missense_Mutation_p.T815I|GRM1_ENST00000361719.2_Missense_Mutation_p.T815I|GRM1_ENST00000507907.1_Missense_Mutation_p.T815I|GRM1_ENST00000282753.1_Missense_Mutation_p.T815I Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 815 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATCATCACAACTTGCTTTGCA 0.468000 28 66 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32995849 32995849 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:32995849G>A ENST00000330953.5 + 2 1103 c.935G>A c.(934-936)cGc>cAc p.R312H NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 312 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 GAGAAATTTCGCAAGTACATC 0.478000 4 79 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134151451 134151451 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:134151451G>A ENST00000372271.3 - 1 483 c.116C>T c.(115-117)aCg>aTg p.T39M NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 39 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) ATCAATCACCGTGATCCCTTC 0.602000 35 48 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49079249 49079249 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:49079249C>T ENST00000323090.4 + 1 453 c.78C>T c.(76-78)gtC>gtT p.V26V SULT2B1_ENST00000201586.2_Silent_p.V41V NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 41 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CCTTCCCCGTCGGCCTGTACT 0.592000 6 144 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29611568 29611568 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:29611568G>A ENST00000334018.6 + 3 456 c.268G>A c.(268-270)Gcc>Acc p.A90T EMID1_ENST00000404820.3_Missense_Mutation_p.A90T|EMID1_ENST00000404755.3_Missense_Mutation_p.A90T|EMID1_ENST00000484039.1_3'UTR NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 90 EMI. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 GATAGTGACCGCCCGTGAGTG 0.627000 22 65 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34663145 34663145 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:34663145G>A ENST00000488417.1 + 2 760 c.640G>A c.(640-642)Gcc>Acc p.A214T C1orf94_ENST00000373374.3_Missense_Mutation_p.A24T NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 24 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TCTGTGTGCCGCCGAGGTCAA 0.562000 22 79 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20921341 20921341 + Missense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:20921341C>A ENST00000261497.4 - 5 807 c.604G>T c.(604-606)Gac>Tac p.D202Y USP22_ENST00000537526.2_Missense_Mutation_p.D190Y|USP22_ENST00000455117.2_Intron NM_015276.1 NP_056091.1 Q9UPT9 UBP22_HUMAN ubiquitin specific peptidase 22 202 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 AGGAAGAAGTCCCGCAGAAGT 0.567000 31 93 6.84511e-11 7.20825e-11 1 1 0 ANKRD12 23253 broad.mit.edu 37 18 9211769 9211769 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr18:9211769G>A ENST00000383440.2 + 5 827 c.570G>A c.(568-570)gtG>gtA p.V190V ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000400020.3_Silent_p.V190V|ANKRD12_ENST00000262126.3_Silent_p.V213V NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 213 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ATGTGAATGTGAAAGATTTTG 0.323000 16 48 0 0 1 0 0 IQSEC1 9922 broad.mit.edu 37 3 12962069 12962069 + Silent SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:12962069C>A ENST00000273221.4 - 6 2139 c.1923G>T c.(1921-1923)ggG>ggT p.G641G NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 641 SEC7. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCCGCACCACCCCAGGGTTGC 0.642000 4 136 0.150653 0.150653 1 1 0 IGDCC4 57722 broad.mit.edu 37 15 65680850 65680850 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:65680850C>G ENST00000352385.2 - 16 2991 c.2782G>C c.(2782-2784)Gag>Cag p.E928Q NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 928 Fibronectin type-III 5. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GGTCCCACCTCTGTGCGCGCC 0.607000 72 184 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72241958 72241958 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:72241958G>C ENST00000357731.4 - 3 671 c.432C>G c.(430-432)atC>atG p.I144M NEGR1_ENST00000306821.3_Missense_Mutation_p.I16M|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.I142M NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 144 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TATCATTTGAGATGTCATATA 0.368000 3 34 0 0 1 0 0 CABP1 9478 broad.mit.edu 37 12 121098056 121098056 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:121098056G>A ENST00000453000.1 + 3 1063 c.551G>A c.(550-552)cGg>cAg p.R184Q CABP1_ENST00000316803.3_Missense_Mutation_p.R248Q|CABP1_ENST00000351200.2_Missense_Mutation_p.R45Q|CABP1_ENST00000288616.3_Missense_Mutation_p.R105Q Q9NZU7 CABP1_HUMAN calcium binding protein 1 248 cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATCAACTGCCGGGATCTGGGC 0.567000 21 68 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132052561 132052561 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:132052561G>A ENST00000286355.5 - 1 2111 c.19C>T c.(19-21)Cgc>Tgc p.R7C ADCY8_ENST00000377928.3_Missense_Mutation_p.R7C NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 7 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTAAGGCAGCGCACATCGGAG 0.692000 HNSCC(32;0.087) 14 23 0 0 1 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107285 27107285 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:27107285G>A ENST00000354348.2 + 1 210 c.198G>A c.(196-198)gtG>gtA p.V66V HIST1H2BK_ENST00000396891.4_Intron NM_003495.2 NP_003486.1 P62805 H4_HUMAN histone cluster 1, H4i 66 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 TGGAGAACGTGATCCGGGACG 0.647000 T BCL6 NHL 4 105 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148525892 148525892 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:148525892C>T ENST00000320356.2 - 6 686 c.565G>A c.(565-567)Gat>Aat p.D189N EZH2_ENST00000541220.1_Missense_Mutation_p.D180N|EZH2_ENST00000483967.1_Missense_Mutation_p.D180N|EZH2_ENST00000478654.1_Missense_Mutation_p.D180N|EZH2_ENST00000476773.1_Missense_Mutation_p.D180N|EZH2_ENST00000350995.2_Missense_Mutation_p.D150N|EZH2_ENST00000460911.1_Missense_Mutation_p.D189N|EZH2_ENST00000536783.1_Missense_Mutation_p.D80N NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 189 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TCGTCTCcatcatcatcatcg 0.393000 Mis DLBCL 6 65 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73491066 73491066 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:73491066G>A ENST00000556143.1 - 2 871 c.151C>T c.(151-153)Cgg>Tgg p.R51W ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R51W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R51W NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 51 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CGCTCCTGCCGATGGAGCTCC 0.552000 4 132 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39230543 39230543 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:39230543C>T ENST00000340369.3 - 2 622 c.394G>A c.(394-396)Gaa>Aaa p.E132K XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E132K NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 132 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AAGGAGCCTTCCTCAAACTTG 0.602000 5 110 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46385781 46385781 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr18:46385781G>A ENST00000256413.3 + 12 1943 c.1648G>A c.(1648-1650)Gca>Aca p.A550T CTIF_ENST00000382998.4_Missense_Mutation_p.A552T NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 550 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CCTGGCCAGCGCACGGGACAA 0.622000 42 109 0 0 1 0 0 SGSH 6448 broad.mit.edu 37 17 78184371 78184371 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:78184371C>T ENST00000326317.6 - 8 1475 c.1389G>A c.(1387-1389)atG>atA p.M463I SGSH_ENST00000534910.1_Missense_Mutation_p.M260I NM_000199.3 NP_000190.1 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 463 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GGTCCCGAAGCATCTCCAGAA 0.687000 7 26 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67860551 67860551 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr18:67860551C>T ENST00000255674.6 - 8 1266 c.980G>A c.(979-981)gGc>gAc p.G327D RTTN_ENST00000437017.1_Missense_Mutation_p.G327D|RTTN_ENST00000454359.1_Missense_Mutation_p.G327D NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 327 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CCAGTCCTGGCCATCTCCTCT 0.552000 14 44 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42911576 42911576 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:42911576C>T ENST00000244289.4 - 6 2163 c.1887G>A c.(1885-1887)cgG>cgA p.R629R LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 629 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) GCTCCAGGCTCCGTTGGCCGT 0.667000 15 45 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704258 117704258 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:117704258C>T ENST00000355044.3 + 29 4234 c.4108C>T c.(4108-4110)Cac>Tac p.H1370Y ATRNL1_ENST00000303745.7_Missense_Mutation_p.H163Y|ATRNL1_ENST00000423111.2_Missense_Mutation_p.H421Y NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1370 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GAATCGAAAACACCTTTCAAC 0.418000 26 85 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102074293 102074293 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:102074293G>A ENST00000369138.1 + 3 812 c.322G>A c.(322-324)Ggg>Agg p.G108R GRIK2_ENST00000369137.3_Missense_Mutation_p.G108R|GRIK2_ENST00000421544.1_Missense_Mutation_p.G108R|GRIK2_ENST00000413795.1_Missense_Mutation_p.G108R|GRIK2_ENST00000369134.4_Missense_Mutation_p.G59R|GRIK2_ENST00000318991.6_Missense_Mutation_p.G108R|GRIK2_ENST00000358361.3_Missense_Mutation_p.G108R NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 108 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGCCATCTTCGGGCCTTCACA 0.537000 5 305 0 0 1 0 0 ELK4 2005 broad.mit.edu 37 1 205589312 205589312 + Nonsense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:205589312G>A ENST00000357992.4 - 3 1201 c.862C>T c.(862-864)Cag>Tag p.Q288* ELK4_ENST00000289703.4_Nonsense_Mutation_p.Q288* NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TCCATTGGCTGAGAAGCCACT 0.453000 T SLC45A3 prostate 5 222 0 0 1 0 0 TMEM161B 153396 broad.mit.edu 37 5 87516424 87516424 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:87516424C>G ENST00000296595.6 - 5 526 c.402G>C c.(400-402)atG>atC p.M134I TMEM161B_ENST00000514135.1_Missense_Mutation_p.M134I|TMEM161B_ENST00000511218.1_5'UTR|TMEM161B_ENST00000509387.1_Missense_Mutation_p.M7I|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.M123I NM_153354.3 NP_699185.1 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 134 integral to membrane endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1) 20 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AGCTGATATTCATTTCCTGTG 0.358000 15 44 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50722091 50722091 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:50722091C>G ENST00000449103.1 - 15 2650 c.2510G>C c.(2509-2511)aGg>aCg p.R837T PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.R837T O15031 PLXB2_HUMAN plexin B2 837 IPT/TIG 1. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CACAGAGATCCTCTGGATGTC 0.647000 18 46 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60695323 60695323 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:60695323C>G ENST00000005286.4 + 3 679 c.526C>G c.(526-528)Cgc>Ggc p.R176G TMEM132A_ENST00000453848.2_Missense_Mutation_p.R176G NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 176 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCAAGCCTGCCGCTTCCAGGT 0.672000 14 31 0 0 1 0 0 BDKRB1 623 broad.mit.edu 37 14 96730784 96730784 + Silent SNP C C T rs150459277 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:96730784C>T ENST00000216629.6 + 3 1371 c.765C>T c.(763-765)ctC>ctT p.L255L BDKRB1_ENST00000553356.1_Intron|RP11-404P21.3_ENST00000553638.1_RNA NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 255 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TCCTCACGCTCGTGGTTGCCT 0.597000 23 49 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27010070 27010070 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:27010070G>C ENST00000314616.6 + 15 2121 c.1838G>C c.(1837-1839)aGa>aCa p.R613T SUPT6H_ENST00000347486.4_Missense_Mutation_p.R613T NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 613 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TTCCAAGAGAGAGCCAAGTTA 0.532000 14 30 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19955493 19955493 + Missense_Mutation SNP T T C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr20:19955493T>C ENST00000255006.6 + 8 1120 c.971T>C c.(970-972)cTt>cCt p.L324P RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 275 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 ATTAATCCCCTTTTCTTGAAA 0.567000 16 39 0 0 1 0 0 SNX29 92017 broad.mit.edu 37 16 12145726 12145726 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:12145726G>C ENST00000566228.1 + 8 840 c.771G>C c.(769-771)cgG>cgC p.R257R NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 349 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 AAAAGGAGCGGAAGAAGAAAA 0.408000 22 59 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53643891 53643891 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:53643891G>A ENST00000452676.2 - 5 2619 c.2193C>T c.(2191-2193)atC>atT p.I731I ZNF347_ENST00000601469.2_Silent_p.I731I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.I730I NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 730 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TTCCAGTATGGATTGCCTGAT 0.438000 47 145 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119563241 119563241 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:119563241C>T ENST00000267260.4 + 7 959 c.571C>T c.(571-573)Cgg>Tgg p.R191W SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 191 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CTGCCCCTCGCGGTCCCAGAG 0.637000 4 69 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81740626 81740626 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:81740626G>A ENST00000537098.3 + 20 2277 c.2205G>A c.(2203-2205)aaG>aaA p.K735K CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.K641K|CMIP_ENST00000398040.4_Silent_p.K582K NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 701 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CAGCCATGAAGAGTCTCTGCA 0.522000 60 325 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983509 128983509 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:128983509G>T ENST00000274487.4 + 12 2051 c.1906G>T c.(1906-1908)Gcc>Tcc p.A636S CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 636 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGAACATCTGGCCGGAGAGTG 0.507000 43 141 1.48734e-19 1.59157e-19 1 1 0 BRWD3 254065 broad.mit.edu 37 X 79975057 79975057 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chrX:79975057C>G ENST00000373275.4 - 18 2191 c.1975G>C c.(1975-1977)Gac>Cac p.D659H BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 659 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AGTCTCAGGTCTTGTTCTCTC 0.398000 34 22 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33330812 33330812 + Missense_Mutation SNP T T A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr20:33330812T>A ENST00000374796.2 - 12 5818 c.3248A>T c.(3247-3249)cAa>cTa p.Q1083L NCOA6_ENST00000359003.2_Missense_Mutation_p.Q1083L Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1083 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GGCAGGTCCTTGCAGACTGAC 0.527000 45 109 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2776783 2776783 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr20:2776783C>T ENST00000380605.2 - 10 1331 c.1267G>A c.(1267-1269)Gag>Aag p.E423K NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 423 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CAGCGGCCCTCGGCCCAGCCC 0.592000 6 107 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120182405 120182405 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chrX:120182405C>T ENST00000328078.1 + 1 944 c.867C>T c.(865-867)taC>taT p.Y289Y NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 289 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) AAGCTTCTTACATGAGCATTT 0.433000 44 29 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179732807 179732807 + Silent SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:179732807G>T ENST00000420890.2 - 16 2637 c.2520C>A c.(2518-2520)ctC>ctA p.L840L CCDC141_ENST00000295723.5_Silent_p.L265L NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 265 Ig-like. protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCAGTCTGTGGAGATGGTCTA 0.512000 19 70 3.32936e-07 3.45106e-07 1 1 0 GATM 2628 broad.mit.edu 37 15 45668818 45668818 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:45668818G>A ENST00000396659.3 - 2 608 c.269C>T c.(268-270)cCg>cTg p.P90L GATM_ENST00000558336.1_Missense_Mutation_p.P90L NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 90 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GATGGTGAACGGTGGAACACA 0.537000 40 114 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42266824 42266824 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:42266824C>T ENST00000319511.6 + 2 1060 c.410C>T c.(409-411)gCc>gTc p.A137V TMUB2_ENST00000538716.2_Missense_Mutation_p.A157V|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.A157V|TMUB2_ENST00000446571.3_Missense_Mutation_p.A100V|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.A137V|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.A137V|TMUB2_ENST00000589856.1_Missense_Mutation_p.A137V NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 157 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) AGTCCAGAGGCCCCCCTGAGA 0.607000 24 79 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52772874 52772874 + Missense_Mutation SNP A A C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:52772874A>C ENST00000439461.1 + 1 51 c.8A>C c.(7-9)cAa>cCa p.Q3P ZNF766_ENST00000599581.1_Missense_Mutation_p.Q3P NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GATATGGCGCAACTGCGGCGC 0.657000 16 57 0 0 1 0 0 IFNA4 3441 broad.mit.edu 37 9 21186980 21186980 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:21186980C>G ENST00000421715.1 - 1 618 c.551G>C c.(550-552)aGa>aCa p.R184T NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 184 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCTCCTTAATCTTTTTTGCAA 0.388000 7 327 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80408576 80408576 + Silent SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:80408576C>G ENST00000265080.4 + 14 2053 c.1986C>G c.(1984-1986)ctC>ctG p.L662L NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 662 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TTGATTTCCTCAACACCTTTC 0.502000 6 314 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20009578 20009578 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:20009578G>A ENST00000294543.6 - 16 2101 c.1860C>T c.(1858-1860)ccC>ccT p.P620P TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.P580P|TMCO4_ENST00000375127.1_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 620 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGGCACAATCGGGGCAGCCCA 0.652000 4 162 0 0 1 0 0 PLXDC1 57125 broad.mit.edu 37 17 37235397 37235397 + Missense_Mutation SNP C C T rs143709538 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:37235397C>T ENST00000315392.4 - 10 1221 c.1010G>A c.(1009-1011)cGc>cAc p.R337H PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.R297H|CTD-2206N4.4_ENST00000583447.1_RNA NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 337 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction p.R337H(1) kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGGCGATAGCGGTCAAAGCC 0.532000 14 67 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58589720 58589720 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:58589720G>A ENST00000317147.5 - 20 2904 c.2572C>T c.(2572-2574)Cat>Tat p.H858Y CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.H853Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.H858Y NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 858 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGTGGTGGATGATTATATATT 0.403000 21 65 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603716 111603716 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:111603716G>T ENST00000431670.2 + 2 1203 c.792G>T c.(790-792)gaG>gaT p.E264D PHLDB2_ENST00000412622.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E264D|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E264D|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E291D|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E264D NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 264 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GAGCCACAGAGAACCAGCTGA 0.483000 16 65 1.3612e-06 1.40363e-06 1 1 0 LRFN3 79414 broad.mit.edu 37 19 36430454 36430454 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:36430454G>A ENST00000588831.1 + 3 1181 c.127G>A c.(127-129)Gtg>Atg p.V43M LRFN3_ENST00000246529.3_Missense_Mutation_p.V43M Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 43 LRRNT. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCCCCTAAGCGTGCTGTGCCC 0.721000 15 43 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129376761 129376761 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:129376761G>C ENST00000355497.5 + 1 40 c.33G>C c.(31-33)gaG>gaC p.E11D LMX1B_ENST00000561065.1_5'UTR|LMX1B_ENST00000373474.4_Missense_Mutation_p.E11D|LMX1B_ENST00000526117.1_Missense_Mutation_p.E11D|LMX1B_ENST00000425646.2_5'UTR NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 0 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 AGTCGCTGGAGAGGTGCTTCC 0.731000 Nail-Patella Syndrome 10 17 0 0 1 0 0 AP3S2 10239 broad.mit.edu 37 15 90378779 90378779 + Missense_Mutation SNP T T G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:90378779T>G ENST00000336418.4 - 6 942 c.550A>C c.(550-552)Atc>Ctc p.I184L AP3S2_ENST00000560940.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.I385L|AP3S2_ENST00000558011.1_Missense_Mutation_p.I196L NM_005829.4 NP_005820.1 adaptor-related protein complex 3, sigma 2 subunit NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1) 6 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) GGAACTTTGATGTTGAGATCG 0.498000 55 128 0 0 1 0 0 GPS2 2874 broad.mit.edu 37 17 7216583 7216583 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:7216583G>C ENST00000380728.2 - 9 1052 c.752C>G c.(751-753)tCc>tGc p.S251C GPS2_ENST00000391950.3_Missense_Mutation_p.S251C|GPS2_ENST00000389167.5_Missense_Mutation_p.S251C|RP11-542C16.2_ENST00000575474.1_3'UTR Q13227 GPS2_HUMAN G protein pathway suppressor 2 251 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) CTTTTGCAAGGACAGGGCACC 0.552000 OREG0024133 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 118 0 0 1 0 0 CCND1 595 broad.mit.edu 37 11 69466022 69466022 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:69466022C>T ENST00000227507.2 + 5 1087 c.860C>T c.(859-861)cCc>cTc p.P287L NM_053056.2 NP_444284.1 P24385 CCND1_HUMAN cyclin D1 287 cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding p.P287L(1)|p.P287H(1) NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1) 23 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) GCTTGCACACCCACCGACGTG 0.716000 T """IGH@, FSTL3""" """CLL, B-ALL, breast""" Multiple Myeloma(6;0.086) 10 28 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1023689 1023689 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:1023689G>C ENST00000358495.3 - 10 1013 c.875C>G c.(874-876)cCg>cGg p.P292R RAD52_ENST00000539046.1_Missense_Mutation_p.P215R|RAD52_ENST00000430095.2_Missense_Mutation_p.P292R|RAD52_ENST00000535376.1_5'UTR NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 292 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) AGGAGGGGCCGGAGGCGCTGC 0.517000 Homologous recombination 13 35 0 0 1 0 0 NAP1L1 4673 broad.mit.edu 37 12 76453586 76453586 + Nonsense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:76453586C>A ENST00000261182.8 - 6 907 c.421G>T c.(421-423)Gag>Tag p.E141* NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000535020.2_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000393263.3_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000548044.1_Nonsense_Mutation_p.E100*|NAP1L1_ENST00000542344.1_Nonsense_Mutation_p.E100*|NAP1L1_ENST00000549596.1_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000552342.1_Nonsense_Mutation_p.E141*|NAP1L1_ENST00000547773.1_Nonsense_Mutation_p.E78* NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 141 Asp/Glu-rich (acidic). DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) ACCGAAATCTCATCTTCTTCA 0.289000 8 21 0.00448238 0.00451651 1 1 0 SYMPK 8189 broad.mit.edu 37 19 46330777 46330777 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:46330777C>T ENST00000245934.7 - 16 2416 c.2172G>A c.(2170-2172)gaG>gaA p.E724E NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 724 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CCTTGTCCTTCTCATGGGAGC 0.597000 13 42 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7773108 7773108 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:7773108G>A ENST00000338316.4 + 18 2367 c.2278G>A c.(2278-2280)Gag>Aag p.E760K ADCY2_ENST00000537121.1_Missense_Mutation_p.E580K NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 760 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGTAAACTATGAGCTGAAGAT 0.502000 46 126 0 0 1 0 0 SRPRB 58477 broad.mit.edu 37 3 133524729 133524729 + Missense_Mutation SNP G G A rs139369374 by1000genomes TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:133524729G>A ENST00000466490.2 + 2 322 c.37G>A c.(37-39)Ggc>Agc p.G13S NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 13 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 GGCAGATGGCGGCGGTGCCGG 0.677000 34 79 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617325 77617325 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:77617325C>G ENST00000521891.2 + 2 1450 c.1002C>G c.(1000-1002)agC>agG p.S334R ZFHX4_ENST00000455469.2_Missense_Mutation_p.S334R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S334R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S334R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 334 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCTTATAAGCTTTCTGGAAC 0.448000 HNSCC(33;0.089) 23 100 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161508855 161508855 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:161508855G>A ENST00000392142.4 + 10 2840 c.2692G>A c.(2692-2694)Gat>Aat p.D898N MAP3K4_ENST00000348824.7_Missense_Mutation_p.D898N|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D898N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D898N NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 898 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CGTACTCATCGATGCCTATCT 0.507000 4 98 0 0 1 0 0 RAD23B 5887 broad.mit.edu 37 9 110091856 110091856 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:110091856G>C ENST00000358015.3 + 10 1500 c.1149G>C c.(1147-1149)gtG>gtC p.V383V RAD23B_ENST00000416373.2_Silent_p.V311V NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 383 UBA 2. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding p.V383V(1) breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AAGGACTTGTGATACAAGCGT 0.318000 Direct reversal of damage;Nucleotide excision repair (NER) 40 65 0 0 1 0 0 GGA1 26088 broad.mit.edu 37 22 38012933 38012933 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:38012933C>G ENST00000343632.4 + 3 519 c.133C>G c.(133-135)Cca>Gca p.P45A GGA1_ENST00000325180.8_Missense_Mutation_p.P45A|GGA1_ENST00000414350.3_Missense_Mutation_p.P45A|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Missense_Mutation_p.P45A|GGA1_ENST00000381756.5_Missense_Mutation_p.P45A|GGA1_ENST00000337437.4_Missense_Mutation_p.P45A NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 45 VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) ACCCAGGCCTCCACTCGCCAC 0.682000 5 12 0 0 1 0 0 ACTL6A 86 broad.mit.edu 37 3 179287900 179287900 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:179287900G>A ENST00000429709.2 + 3 361 c.148G>A c.(148-150)Gga>Aga p.G50R ACTL6A_ENST00000392662.1_Missense_Mutation_p.G8R|ACTL6A_ENST00000450518.2_Missense_Mutation_p.G8R NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 50 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) AAGAGATGACGGAAGCACATT 0.423000 5 138 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221053273 221053273 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:221053273C>T ENST00000366903.6 + 1 1575 c.74C>T c.(73-75)gCc>gTc p.A25V HLA-AS1_ENST00000552026.1_RNA NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 25 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) TGCTCCTCGGCCGGCCCAGGC 0.697000 5 13 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35043437 35043437 + Nonsense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:35043437C>T ENST00000312292.5 + 2 858 c.811C>T c.(811-813)Cag>Tag p.Q271* C9orf131_ENST00000421362.2_Nonsense_Mutation_p.Q223*|C9orf131_ENST00000354479.5_Nonsense_Mutation_p.Q198* NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 271 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CCCCGATCCTCAGCTGCTTCC 0.547000 6 174 0 0 1 0 0 MFSD8 256471 broad.mit.edu 37 4 128886243 128886243 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:128886243C>T ENST00000296468.3 - 2 173 c.46G>A c.(46-48)Gac>Aac p.D16N MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Intron|MFSD8_ENST00000541133.1_Intron NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 16 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 CCAGGTGTGTCGCCTAAGAGC 0.617000 8 24 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563747 140563747 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:140563747C>T ENST00000361016.2 + 1 2768 c.1613C>T c.(1612-1614)tCc>tTc p.S538F NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 538 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACCGCGGCTCCCCGGCTTTG 0.682000 47 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179575889 179575889 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:179575889G>C ENST00000589042.1 - 97 28298 c.28074C>G c.(28072-28074)ctC>ctG p.L9358L TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L8114L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.L9041L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9041 Ig-like 76. 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) TAAAAATATTGAGTGTGGCTG 0.453000 6 184 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130159096 130159096 + Silent SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:130159096C>A ENST00000265379.6 + 35 6408 c.5914C>A c.(5914-5916)Cgg>Agg p.R1972R COL6A5_ENST00000432398.2_Silent_p.R1972R A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 1972 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AGACAATTCTCGGAATATAGC 0.403000 9 28 1.12685e-05 1.15299e-05 1 1 0 SGSM2 9905 broad.mit.edu 37 17 2275527 2275527 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:2275527G>A ENST00000268989.3 + 14 1798 c.1621G>A c.(1621-1623)Gtg>Atg p.V541M SGSM2_ENST00000426855.2_Missense_Mutation_p.V496M|SGSM2_ENST00000574563.1_Missense_Mutation_p.V496M NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 496 intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GAGGCAGATCGTGTCCCGGGC 0.706000 37 109 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5153736 5153736 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:5153736C>T ENST00000252321.3 + 1 652 c.423C>T c.(421-423)ttC>ttT p.F141F NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 141 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TGGCGCAGTTCCCCAACACAC 0.662000 4 63 0 0 1 0 0 MFSD2A 84879 broad.mit.edu 37 1 40434075 40434075 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:40434075C>T ENST00000372809.5 + 12 1460 c.1317C>T c.(1315-1317)atC>atT p.I439I MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.I270I|MFSD2A_ENST00000372811.5_Silent_p.I426I NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 439 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CCGAGCCCATCTTCTTCTCCT 0.552000 20 50 0 0 1 0 0 KLHL41 10324 broad.mit.edu 37 2 170371456 170371456 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:170371456G>A ENST00000284669.1 + 3 1438 c.1361G>A c.(1360-1362)gGa>gAa p.G454E RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.G392E|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.G392E NM_006063.2 NP_006054.2 kelch-like family member 41 TGTCTAGGAGGAAAGACAGAT 0.323000 12 47 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52713011 52713011 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:52713011C>T ENST00000293670.3 - 2 584 c.522G>A c.(520-522)gtG>gtA p.V174V NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 174 Coil 1B.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGTCAGCCTCCACGCACTCGG 0.612000 38 110 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139748249 139748249 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:139748249G>C ENST00000445819.1 + 5 525 c.475G>C c.(475-477)Gag>Cag p.E159Q MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.E159Q Q6UXC1 AEGP_HUMAN MAM domain containing 4 159 MAM 1. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) ACTGCGGGTGGAGCTGACCCA 0.706000 22 56 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123018978 123018978 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:123018978G>A ENST00000462833.1 - 15 4101 c.2889C>T c.(2887-2889)acC>acT p.T963T ADCY5_ENST00000491190.1_Silent_p.T596T|ADCY5_ENST00000309879.5_Silent_p.T613T NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 963 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TGGCGTTGGCGGTGACCAGCA 0.612000 17 57 0 0 1 0 0 HTR3A 3359 broad.mit.edu 37 11 113851964 113851964 + Missense_Mutation SNP T T G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:113851964T>G ENST00000504030.2 + 4 749 c.304T>G c.(304-306)Ttt>Gtt p.F102V HTR3A_ENST00000355556.2_Missense_Mutation_p.F108V|HTR3A_ENST00000375498.2_Missense_Mutation_p.F108V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.F102V|HTR3A_ENST00000299961.5_Missense_Mutation_p.F87V P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 102 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCCTGAGGACTTTGACAACAT 0.552000 17 45 0 0 1 0 0 SLC25A25 114789 broad.mit.edu 37 9 130863668 130863668 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:130863668C>G ENST00000373066.5 + 3 834 c.427C>G c.(427-429)Ctc>Gtc p.L143V SLC25A25_ENST00000373068.2_Missense_Mutation_p.L157V|SLC25A25_ENST00000432073.2_Missense_Mutation_p.L143V|SLC25A25_ENST00000433501.1_Missense_Mutation_p.L20V|SLC25A25_ENST00000373064.5_Missense_Mutation_p.L123V|SLC25A25_ENST00000373069.5_Missense_Mutation_p.L157V NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 123 EF-hand 3. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 AGAAAAAATTCTCAAGAGGTG 0.537000 5 64 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46063050 46063050 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:46063050C>T ENST00000309285.3 - 2 746 c.390G>A c.(388-390)tcG>tcA p.S130S XCR1_ENST00000542109.1_Silent_p.S130S NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 130 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GGCTCACTACCGACAGGTAGC 0.592000 9 27 0 0 1 0 0 AP3D1 8943 broad.mit.edu 37 19 2112870 2112870 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:2112870C>T ENST00000355272.6 - 24 2982 c.2776G>A c.(2776-2778)Gac>Aac p.D926N AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000356926.4_Missense_Mutation_p.D823N|AP3D1_ENST00000345016.5_Intron NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 872 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 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) TTGTCCTGGTCTTGCCCCTCG 0.672000 12 46 0 0 1 0 0 FAM170A 340069 broad.mit.edu 37 5 118969673 118969673 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:118969673G>A ENST00000515256.1 + 3 402 c.230G>A c.(229-231)cGa>cAa p.R77Q A1A519 F170A_HUMAN family with sequence similarity 170, member A 77 intracellular zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 24 AGAATACATCGAGACAGCCCC 0.512000 22 59 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147499606 147499606 + Missense_Mutation SNP A A C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:147499606A>C ENST00000359874.3 + 25 2421 c.2348A>C c.(2347-2349)aAt>aCt p.N783T SPINK5_ENST00000398454.1_Missense_Mutation_p.N783T|SPINK5_ENST00000256084.7_Missense_Mutation_p.N783T NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 783 Kazal-like 12. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAATGAAAAATGGAAAACTC 0.378000 7 25 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154574693 154574693 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:154574693C>T ENST00000368474.4 - 2 624 c.425G>A c.(424-426)aGg>aAg p.R142K ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.R185K NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 142 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CTTTAAGATCCTTTGTTCCTG 0.488000 37 98 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51230664 51230664 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:51230664C>G ENST00000245441.5 - 15 1844 c.1654G>C c.(1654-1656)Gat>Cat p.D552H NIN_ENST00000382041.3_Missense_Mutation_p.D552H|NIN_ENST00000324330.9_Missense_Mutation_p.D552H|NIN_ENST00000389868.3_Missense_Mutation_p.D552H|NIN_ENST00000382043.4_Missense_Mutation_p.D552H|NIN_ENST00000453196.1_Missense_Mutation_p.D552H|NIN_ENST00000530997.2_Missense_Mutation_p.D552H NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 552 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TGGAGTTCATCTACTTGGTCT 0.433000 T PDGFRB MPD 27 71 0 0 1 0 0 CCDC116 164592 broad.mit.edu 37 22 21989155 21989155 + Missense_Mutation SNP G G A rs147529801 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:21989155G>A ENST00000292779.3 + 4 964 c.803G>A c.(802-804)cGc>cAc p.R268H NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 268 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) CCAATCTTCCGCAAGCGAGAG 0.602000 35 145 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367229 142367229 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:142367229C>T ENST00000377741.3 - 2 885 c.795G>A c.(793-795)gcG>gcA p.A265A NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 265 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) CGGGCCACAGCGCCACGGCCA 0.657000 4 50 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6219670 6219670 + Silent SNP A A G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:6219670A>G ENST00000261405.5 - 5 656 c.402T>C c.(400-402)taT>taC p.Y134Y VWF_ENST00000572068.1_Silent_p.Y171Y NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 134 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCACAAAGCCATAGGCCTCAC 0.527000 34 124 0 0 1 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20220907 20220907 + Missense_Mutation SNP A A G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr13:20220907A>G ENST00000361479.5 + 3 762 c.694A>G c.(694-696)Aag>Gag p.K232E MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K232E NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 232 Lys-rich. cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) gaaagttaaaaagggtgaaat 0.303000 13 30 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155254404 155254404 + Missense_Mutation SNP T T G rs150770753 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:155254404T>G ENST00000357232.3 - 9 1458 c.1459A>C c.(1459-1461)Att>Ctt p.I487L DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.I986L NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 487 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GATATTCTAATCTCATCCGAG 0.597000 23 85 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42268085 42268085 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:42268085C>T ENST00000319511.6 + 3 1409 c.759C>T c.(757-759)ctC>ctT p.L253L TMUB2_ENST00000538716.2_Silent_p.L273L|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000587989.1_Silent_p.L273L|TMUB2_ENST00000446571.3_Silent_p.L216L|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Silent_p.L253L|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Silent_p.L253L NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 273 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) TGGGCAGCCTCATGGTGCCTG 0.617000 45 134 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37605166 37605166 + Splice_Site SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:37605166G>T ENST00000265107.4 + 10 1074 c.917_splice c.e10-1 p.A306_splice WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Splice_Site_p.A306_splice NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 306 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCATTTTTAGGACTGTGAGGA 0.388000 9 20 3.09899e-07 3.22913e-07 1 1 0 USP37 57695 broad.mit.edu 37 2 219346853 219346853 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:219346853G>A ENST00000258399.3 - 17 2187 c.1775C>T c.(1774-1776)tCt>tTt p.S592F USP37_ENST00000418019.1_Missense_Mutation_p.S592F|USP37_ENST00000454775.1_Missense_Mutation_p.S592F|USP37_ENST00000415516.1_Missense_Mutation_p.S520F|USP37_ENST00000475553.1_5'UTR NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 592 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) AGTGCAATGAGATGACAGGGT 0.403000 39 65 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34945895 34945895 + Missense_Mutation SNP A A T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:34945895A>T ENST00000382021.2 + 9 1399 c.1172A>T c.(1171-1173)cAg>cTg p.Q391L DNAJC21_ENST00000512136.1_3'UTR|DNAJC21_ENST00000342382.4_Missense_Mutation_p.Q391L|DNAJC21_ENST00000303525.7_Missense_Mutation_p.Q404L NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 391 Poly-Lys. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) AAAAAGAAACAGAAACCAGCA 0.318000 23 101 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5776180 5776180 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:5776180G>A ENST00000381624.3 + 21 2011 c.1950G>A c.(1948-1950)gtG>gtA p.V650V CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 650 integral to membrane AGAACTATGTGAGCTGCCACG 0.632000 30 64 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3639432 3639432 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:3639432C>G ENST00000294008.3 - 12 4847 c.4207G>C c.(4207-4209)Gag>Cag p.E1403Q NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1403 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 GAGGCCACCTCCTGCTCATCG 0.617000 Direct reversal of damage 7 192 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39133006 39133006 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:39133006G>A ENST00000297668.6 - 13 2076 c.2003C>T c.(2002-2004)tCc>tTc p.S668F CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S667F|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S574F|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S667F|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S580F NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 668 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GTTCACCGCGGACCGCAGCTG 0.761000 6 9 0 0 1 0 0 C6orf89 221477 broad.mit.edu 37 6 36867326 36867326 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:36867326G>A ENST00000480824.2 + 3 400 c.106G>A c.(106-108)Gaa>Aaa p.E36K C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.E36K|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.E43K Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 36 integral to membrane p.E43*(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 GAAGGCAATTGAAAAATTTAT 0.443000 23 75 0 0 1 0 0 SLC7A4 6545 broad.mit.edu 37 22 21385560 21385560 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:21385560G>C ENST00000382932.2 - 2 609 c.542C>G c.(541-543)tCt>tGt p.S181C SLC7A4_ENST00000403586.1_Missense_Mutation_p.S181C NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 181 THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263). cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GACAAAGGCAGAGGCCAGGAG 0.597000 26 44 0 0 1 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20132802 20132802 + Missense_Mutation SNP C C T rs148311753 by1000genomes TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:20132802C>T ENST00000334554.7 + 11 2318 c.2177C>T c.(2176-2178)cCg>cTg p.P726L ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P634L|ZDHHC8_ENST00000405930.3_Intron NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 726 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GGGCAGTCCCCGGGCCTGGCC 0.632000 68 258 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42268014 42268014 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:42268014C>T ENST00000319511.6 + 3 1338 c.688C>T c.(688-690)Cca>Tca p.P230S TMUB2_ENST00000538716.2_Missense_Mutation_p.P250S|TMUB2_ENST00000589184.1_Missense_Mutation_p.S64F|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.P250S|TMUB2_ENST00000446571.3_Missense_Mutation_p.P193S|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.P230S|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.P230S NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 250 Ubiquitin-like. integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GTCAGCTGTTCCAGGCCCCTC 0.627000 35 98 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29259409 29259409 + Silent SNP C C T rs141848946 byFrequency TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:29259409C>T ENST00000379558.4 + 18 2772 c.2421C>T c.(2419-2421)gtC>gtT p.V807V FAM179A_ENST00000403861.2_Silent_p.V752V|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 807 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TTCAATAGGTCTTTGATGCTT 0.557000 22 62 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96518836 96518836 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:96518836C>G ENST00000283109.3 - 1 128 c.60G>C c.(58-60)ttG>ttC p.L20F RIOK2_ENST00000508447.1_Missense_Mutation_p.L20F|CTD-2215E18.1_ENST00000509481.1_Missense_Mutation_p.Q53E NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 20 ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TTACCGCGGTCAAGACCCTGA 0.562000 43 164 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685698 100685698 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:100685698C>T ENST00000306151.4 + 3 11065 c.11001C>T c.(10999-11001)atC>atT p.I3667I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3667 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGATCACTTCTACCC 0.502000 9 313 0 0 1 0 0 ZNF689 115509 broad.mit.edu 37 16 30615770 30615770 + Nonsense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:30615770G>A ENST00000287461.3 - 3 1655 c.1318C>T c.(1318-1320)Cag>Tag p.Q440* RP11-146F11.5_ENST00000563540.1_RNA NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) TGGCTCCACTGAGCAAAACGC 0.677000 5 17 0 0 1 0 0 FBXO27 126433 broad.mit.edu 37 19 39517588 39517588 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:39517588G>A ENST00000292853.4 - 5 749 c.630C>T c.(628-630)gaC>gaT p.D210D FBXO27_ENST00000600828.1_Silent_p.D209D|FBXO27_ENST00000509137.2_Silent_p.D210D NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 210 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TCTGGTTGGCGTCTAGAAGTT 0.562000 69 150 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73039771 73039771 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:73039771C>T ENST00000335350.6 + 2 689 c.273C>T c.(271-273)caC>caT p.H91H UNC5B_ENST00000373192.4_Silent_p.H91H NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 91 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 AGAACGACCACGTCACACAGG 0.642000 39 117 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10625900 10625900 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr20:10625900G>A ENST00000254958.5 - 17 2633 c.2118C>T c.(2116-2118)gaC>gaT p.D706D JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.D547D NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 706 EGF-like 13. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CACACTGACTGTCACCTGGAG 0.547000 Alagille Syndrome 17 65 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135639718 135639718 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:135639718C>T ENST00000367800.4 - 24 3581 c.3365G>A c.(3364-3366)cGa>cAa p.R1122Q AHI1_ENST00000417892.2_Missense_Mutation_p.R476Q|AHI1_ENST00000457866.2_Missense_Mutation_p.R1122Q NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 1122 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) AGGAGGGGATCGCTCCTTTAT 0.388000 3 4 0 0 1 0 0 RAC1 5879 broad.mit.edu 37 7 6426892 6426892 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:6426892C>T ENST00000348035.4 + 2 298 c.85C>T c.(85-87)Cct>Tct p.P29S RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 29 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding p.P29S(1) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CAATGCATTTCCTGGAGAATA 0.353000 10 45 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46567252 46567252 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:46567252G>C ENST00000458649.2 - 5 871 c.453C>G c.(451-453)ctC>ctG p.L151L AMBRA1_ENST00000426438.1_Silent_p.L151L|AMBRA1_ENST00000528950.1_Silent_p.L151L|AMBRA1_ENST00000534300.1_Silent_p.L151L|AMBRA1_ENST00000533727.1_Silent_p.L151L|AMBRA1_ENST00000314845.3_Silent_p.L151L|AMBRA1_ENST00000298834.3_Silent_p.L151L Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 151 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CAATCAGCAGGAGCTGAGCCG 0.532000 19 64 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895275 77895275 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr18:77895275C>T ENST00000262198.4 + 4 2434 c.1979C>T c.(1978-1980)cCc>cTc p.P660L NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 660 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CCCGGCATGCCCTCTCCTCCA 0.632000 33 62 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32843848 32843848 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:32843848G>A ENST00000341071.7 - 7 627 c.616C>T c.(616-618)Cgg>Tgg p.R206W BSDC1_ENST00000419121.2_Missense_Mutation_p.R133W|BSDC1_ENST00000413080.1_Intron|BSDC1_ENST00000449308.1_Missense_Mutation_p.R189W|BSDC1_ENST00000446293.2_Missense_Mutation_p.R206W|BSDC1_ENST00000526031.1_Missense_Mutation_p.R94W|BSDC1_ENST00000455895.2_Missense_Mutation_p.R189W Q9NW68 BSDC1_HUMAN BSD domain containing 1 189 protein binding p.R206W(1) breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TAGAAATACCGATGCCAGAAT 0.522000 15 61 0 0 1 0 0 HAPLN1 1404 broad.mit.edu 37 5 82969304 82969304 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:82969304G>A ENST00000274341.4 - 2 889 c.39C>T c.(37-39)tgC>tgT p.C13C HAPLN1_ENST00000514416.1_Silent_p.C13C NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 13 cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) GATCAGCCCAGCAGATTGAAA 0.403000 36 61 0 0 1 0 0 NECAB2 54550 broad.mit.edu 37 16 84030833 84030833 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:84030833G>T ENST00000565691.1 + 7 1281 c.559G>T c.(559-561)Gac>Tac p.D187Y NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000305202.4_Missense_Mutation_p.D270Y Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 270 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 ACTGTGGTTCGACCTGCAGCA 0.617000 16 65 1.99824e-07 2.08763e-07 1 1 0 CAMK2B 816 broad.mit.edu 37 7 44280308 44280308 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:44280308G>A ENST00000395749.2 - 12 1020 c.944C>T c.(943-945)tCa>tTa p.S315L CAMK2B_ENST00000350811.3_Missense_Mutation_p.S315L|CAMK2B_ENST00000440254.2_Missense_Mutation_p.S315L|CAMK2B_ENST00000457475.1_Missense_Mutation_p.S315L|CAMK2B_ENST00000395747.2_Missense_Mutation_p.S315L|CAMK2B_ENST00000502837.2_Missense_Mutation_p.S186L|CAMK2B_ENST00000258682.6_Missense_Mutation_p.S315L|CAMK2B_ENST00000346990.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000353625.4_Missense_Mutation_p.S315L|CAMK2B_ENST00000358707.3_Missense_Mutation_p.S315L|CAMK2B_ENST00000347193.4_Missense_Mutation_p.S315L NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 315 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 AGGCTCACCTGAGAAATTCCG 0.617000 7 32 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080335 126080335 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:126080335C>T ENST00000368364.3 + 5 598 c.401C>T c.(400-402)gCg>gTg p.A134V HEY2_ENST00000368365.1_Missense_Mutation_p.A88V NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 134 Orange. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding p.A134V(2) breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) ACAGAAGTTGCGCGGTACCTG 0.587000 26 95 0 0 1 0 0 TUBA1B 10376 broad.mit.edu 37 12 49523132 49523132 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:49523132C>G ENST00000336023.5 - 3 362 c.268G>C c.(268-270)Gag>Cag p.E90Q RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 90 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 ATGAGCTGCTCAGGGTGGAAG 0.552000 5 168 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684956 100684956 + Nonsense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:100684956C>G ENST00000306151.4 + 3 10323 c.10259C>G c.(10258-10260)tCa>tGa p.S3420* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3420 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACACCCTTTCAACAACTCCT 0.502000 16 549 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936965 15936965 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:15936965C>T ENST00000504595.1 + 4 1627 c.1146C>T c.(1144-1146)aaC>aaT p.N382N FBXL7_ENST00000510662.1_Silent_p.N335N|FBXL7_ENST00000329673.7_Silent_p.N370N NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 382 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GCTACCTCAACGCGAGGGGCT 0.617000 5 24 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247014083 247014083 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:247014083C>G ENST00000366508.1 - 33 5466 c.5330G>C c.(5329-5331)aGa>aCa p.R1777T AHCTF1_ENST00000326225.3_Missense_Mutation_p.R1751T|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R1742T|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1742 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) ACGTTGACCTCTCGTACGAGT 0.443000 14 43 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121220601 121220601 + Splice_Site SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:121220601G>A ENST00000297848.3 + 11 1591 c.e11+1 COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000537875.1_Splice_Site NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GAAACTACACGTATGTATTTA 0.403000 22 36 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34671826 34671826 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:34671826G>A ENST00000374789.3 - 9 1366 c.1041C>T c.(1039-1041)gcC>gcT p.A347A PARD3_ENST00000340077.5_Silent_p.A347A|PARD3_ENST00000374776.1_Silent_p.A347A|PARD3_ENST00000545260.1_Silent_p.A303A|PARD3_ENST00000544292.1_Silent_p.A77A|PARD3_ENST00000346874.4_Silent_p.A347A|PARD3_ENST00000374773.1_Silent_p.A347A|PARD3_ENST00000350537.4_Silent_p.A347A|PARD3_ENST00000374788.3_Silent_p.A347A|PARD3_ENST00000545693.1_Silent_p.A347A|PARD3_ENST00000374790.3_Silent_p.A303A|PARD3_ENST00000374794.3_Silent_p.A303A NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 347 PDZ 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GTGTACGCATGGCTTGGCGAA 0.378000 37 106 0 0 1 0 0 STK10 6793 broad.mit.edu 37 5 171481612 171481612 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:171481612C>T ENST00000176763.5 - 17 2956 c.2613G>A c.(2611-2613)gcG>gcA p.A871A NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 871 Gln-rich. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTCACACTGCGCCAGCATGT 0.627000 66 136 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028295 102028295 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:102028295C>T ENST00000510508.4 + 1 608 c.462C>T c.(460-462)taC>taT p.Y154Y DIO3_ENST00000359323.3_Silent_p.Y128Y P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 128 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) TCCTCGACTACGCGCAAGGGA 0.627000 27 72 0 0 1 0 0 EPN1 29924 broad.mit.edu 37 19 56206609 56206609 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:56206609C>G ENST00000411543.2 + 11 2423 c.1876C>G c.(1876-1878)Ccc>Gcc p.P626A EPN1_ENST00000085079.7_Missense_Mutation_p.P514A|EPN1_ENST00000270460.6_Missense_Mutation_p.P540A NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 540 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) TCCTGTGCCTCCCGTCCCTGG 0.716000 9 28 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233273429 233273429 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:233273429G>C ENST00000295453.3 + 8 924 c.872G>C c.(871-873)gGa>gCa p.G291A NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 291 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) TTTGAGCCTGGAGACATGAAA 0.627000 5 24 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654578 46654578 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:46654578G>C ENST00000253255.5 - 1 4641 c.4642C>G c.(4642-4644)Cag>Gag p.Q1548E NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1548 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGGACATCCTGATCATCTTCT 0.488000 61 195 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23190959 23190959 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:23190959G>A ENST00000389131.3 - 5 1290 c.921C>T c.(919-921)ttC>ttT p.F307F LOXL2_ENST00000518472.1_5'UTR NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 307 aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CGTCAGGGCTGAAGACCTGCC 0.632000 32 101 0 0 1 0 0 HLA-B 3106 broad.mit.edu 37 6 31323268 31323268 + Missense_Mutation SNP A A C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:31323268A>C ENST00000412585.2 - 4 749 c.721T>G c.(721-723)Tgg>Ggg p.W241G NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B p.W241R(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 TCCCGCTGCCAGGTCAGTGTG 0.612000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 44 144 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109816662 109816662 + Missense_Mutation SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:109816662C>A ENST00000271332.3 + 34 8824 c.8763C>A c.(8761-8763)ttC>ttA p.F2921L CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2921 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCTTTAACTTCCTGCATTAAC 0.542000 6 218 0.00198382 0.00200401 1 1 0 ZYG11B 79699 broad.mit.edu 37 1 53287268 53287268 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:53287268C>T ENST00000294353.6 + 14 2347 c.2202C>T c.(2200-2202)ccC>ccT p.P734P ZYG11B_ENST00000443756.2_Silent_p.P664P NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 734 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 GGCCACCTCCCTGTAAAAAAC 0.423000 16 49 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110519954 110519954 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:110519954G>C ENST00000378402.5 + 69 11161 c.11057G>C c.(11056-11058)aGa>aCa p.R3686T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3686 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCTTTTCTTAGAGACATAGAT 0.408000 HNSCC(38;0.096) 20 58 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72363371 72363371 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:72363371C>G ENST00000340595.3 + 13 2192 c.1996C>G c.(1996-1998)Ctg>Gtg p.L666V SLC4A4_ENST00000351898.6_Missense_Mutation_p.L710V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L710V|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L710V NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 710 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTCCATGGCTCTGAAAAAATT 0.363000 25 87 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52927235 52927235 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:52927235C>G ENST00000371544.3 - 18 3443 c.3181G>C c.(3181-3183)Gaa>Caa p.E1061Q ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1061Q NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1061 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CGCCTGTGTTCAAATTTTACT 0.279000 18 21 0 0 1 0 0 ZNF41 7592 broad.mit.edu 37 X 47307709 47307709 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chrX:47307709C>G ENST00000377065.4 - 5 2099 c.1460G>C c.(1459-1461)aGa>aCa p.R487T ZNF41_ENST00000313116.7_Missense_Mutation_p.R487T|ZNF41_ENST00000397050.2_Missense_Mutation_p.R497T NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 529 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) GGTGTGAATTCTTTGATGCAC 0.423000 3 42 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78171683 78171683 + Silent SNP A A G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr13:78171683A>G ENST00000535157.1 + 12 860 c.690A>G c.(688-690)gaA>gaG p.E230E SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000349847.3_Silent_p.E252E|SCEL_ENST00000377246.3_Silent_p.E232E NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 252 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) CCCAAAGTGAAGAATTGGATA 0.303000 8 18 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21624144 21624144 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:21624144C>G ENST00000304418.3 - 1 78 c.41G>C c.(40-42)aGa>aCa p.R14T NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) GAAGATGAGTCTTATTGAGGG 0.448000 50 164 0 0 1 0 0 GNPTAB 79158 broad.mit.edu 37 12 102158732 102158732 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:102158732G>A ENST00000299314.7 - 13 2225 c.1963C>T c.(1963-1965)Ccc>Tcc p.P655S NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 655 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 AGTGTTATGGGACTAACTAAA 0.423000 21 60 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92380902 92380902 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr13:92380902G>A ENST00000377067.3 + 4 1509 c.1137G>A c.(1135-1137)acG>acA p.T379T GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 379 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GTGAAGAGACGCTTGCCAACA 0.393000 37 94 0 0 1 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44632664 44632664 + Nonsense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:44632664C>G ENST00000576629.1 + 14 5423 c.4928C>G c.(4927-4929)tCa>tGa p.S1643* ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000336125.5_3'UTR|LRRC37A2_ENST00000333412.3_Nonsense_Mutation_p.S1643* A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1643 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GGACTTTCCTCATTTGGACAG 0.418000 4 205 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3168975 3168975 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:3168975G>A ENST00000382192.3 + 6 759 c.554G>A c.(553-555)cGg>cAg p.R185Q RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R185Q NM_001278158.1|NM_003456.2 NP_001265087.1|NP_003447.2 O95201 ZN205_HUMAN zinc finger protein 205 185 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 GGCTCCAGCCGGCAGGCAGGA 0.667000 52 140 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102564693 102564693 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:102564693G>A ENST00000260229.4 - 8 1228 c.1137C>T c.(1135-1137)gcC>gcT p.A379A NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 379 Hemopexin-like 3. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TATCACAGACGGCTGCATCTA 0.393000 44 99 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33932734 33932734 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:33932734C>G ENST00000262325.7 + 4 707 c.154C>G c.(154-156)Cca>Gca p.P52A AP2B1_ENST00000589344.1_Missense_Mutation_p.P52A|AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.P52A|AP2B1_ENST00000592545.1_Missense_Mutation_p.P52A|AP2B1_ENST00000312678.8_Missense_Mutation_p.P52A NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 52 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TTCTCTCTTTCCAGACGTAGT 0.438000 20 88 0 0 1 0 0 TMEM37 140738 broad.mit.edu 37 2 120194618 120194618 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:120194618G>A ENST00000306406.4 + 2 210 c.175G>A c.(175-177)Ggg>Agg p.G59R TMEM37_ENST00000409826.1_Missense_Mutation_p.G71R|TMEM37_ENST00000465296.1_3'UTR NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 59 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 CCGCCTCTTCGGGCTCTGGCA 0.647000 30 107 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109694273 109694273 + Missense_Mutation SNP T T C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chrX:109694273T>C ENST00000465301.2 + 3 674 c.428T>C c.(427-429)aTg>aCg p.M143T RGAG1_ENST00000540313.1_Missense_Mutation_p.M143T NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 143 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CCAGGGATGATGACAATTCCT 0.502000 60 41 0 0 1 0 0 TRPV1 7442 broad.mit.edu 37 17 3489147 3489147 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:3489147C>T ENST00000174621.6 - 7 1581 c.1292G>A c.(1291-1293)cGc>cAc p.R431H SHPK_ENST00000572705.1_Missense_Mutation_p.R433H|TRPV1_ENST00000425167.2_Missense_Mutation_p.R444H|TRPV1_ENST00000399756.4_Missense_Mutation_p.R433H|TRPV1_ENST00000576351.1_Missense_Mutation_p.R423H|TRPV1_ENST00000310522.5_Missense_Mutation_p.R373H|TRPV1_ENST00000571088.1_Missense_Mutation_p.R433H|TRPV1_ENST00000399759.3_Missense_Mutation_p.R433H Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 433 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) GTAGAAGATGCGCTTGACGAA 0.562000 9 37 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60498986 60498986 + Missense_Mutation SNP T T C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr13:60498986T>C ENST00000400324.4 - 18 2313 c.2093A>G c.(2092-2094)gAt>gGt p.D698G DIAPH3_ENST00000400319.1_Missense_Mutation_p.D628G|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D652G|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D698G|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D687G|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D698G|DIAPH3_ENST00000465066.1_5'UTR NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 698 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CTCTTCAATATCTTCCTCTTC 0.299000 5 18 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42266848 42266848 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:42266848C>T ENST00000319511.6 + 2 1084 c.434C>T c.(433-435)aCc>aTc p.T145I TMUB2_ENST00000538716.2_Missense_Mutation_p.T165I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.T165I|TMUB2_ENST00000446571.3_Missense_Mutation_p.T108I|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.T145I|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.T145I|TMUB2_ENST00000589856.1_Missense_Mutation_p.T145I NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 165 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GAGGATAGCACCTGCCTCCCT 0.607000 21 72 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54824313 54824313 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr20:54824313C>T ENST00000243911.2 + 1 526 c.414C>T c.(412-414)atC>atT p.I138I NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 175 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCCTGGCCATCGCCGTCGACA 0.567000 31 66 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5664425 5664425 + Nonsense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:5664425C>G ENST00000292123.5 + 17 2416 c.2309C>G c.(2308-2310)tCa>tGa p.S770* SAFB_ENST00000592224.1_Nonsense_Mutation_p.S769*|SAFB_ENST00000538656.1_Nonsense_Mutation_p.S612*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.S701*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.S600*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S770* NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 770 Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) GGTTCAAGGTCAATGATGGGA 0.463000 21 54 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5622611 5622611 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:5622611C>T ENST00000252542.4 - 1 380 c.116G>A c.(115-117)cGg>cAg p.R39Q NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 39 SAP. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CAGCTCCGCCCGCAGATCGAT 0.721000 4 30 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57958466 57958466 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:57958466G>A ENST00000325752.3 - 4 603 c.326C>T c.(325-327)tCt>tTt p.S109F TUBD1_ENST00000376094.4_Missense_Mutation_p.S109F|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.S109F|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.S109F|TUBD1_ENST00000340993.6_Missense_Mutation_p.S109F|TUBD1_ENST00000591611.1_Intron NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 109 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TCCATGAACAGAGTAACTATG 0.353000 21 70 0 0 1 0 0 MBLAC2 153364 broad.mit.edu 37 5 89769875 89769875 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:89769875C>T ENST00000316610.6 - 1 710 c.235G>A c.(235-237)Gcc>Acc p.A79T MBLAC2_ENST00000514906.1_Missense_Mutation_p.A79T NM_203406.1 NP_981951.1 Q68D91 MBLC2_HUMAN metallo-beta-lactamase domain containing 2 79 hydrolase activity|metal ion binding kidney(1)|liver(1)|lung(3) 5 GTGGCCACGGCAAGCAGTGGC 0.711000 7 14 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 562846 562846 + Splice_Site SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:562846C>T ENST00000230449.4 - 17 1925 c.e17-1 EXOC2_ENST00000448181.3_Splice_Site NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CTCTTTATTTCTATATGAGAA 0.259000 7 19 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33293223 33293223 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:33293223G>A ENST00000280979.4 + 13 6374 c.6204G>A c.(6202-6204)tcG>tcA p.S2068S AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2068 PKA-RII subunit binding domain. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ACATGGCTTCGACAGCCCTAA 0.423000 22 46 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373545 126373545 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:126373545C>T ENST00000394329.3 + 9 11387 c.11374C>T c.(11374-11376)Cgg>Tgg p.R3792W FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3792 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GATCCTTCTCCGGCAGAGTGG 0.483000 22 62 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3103948 3103948 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:3103948G>A ENST00000359864.2 + 3 206 c.16G>A c.(16-18)Ggc>Agc p.G6S TEAD4_ENST00000358409.2_Missense_Mutation_p.G6S|TEAD4_ENST00000397122.2_Intron NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 6 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GGGCACGGCCGGCACCATTAC 0.662000 28 78 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180335696 180335696 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:180335696C>T ENST00000231229.4 + 2 394 c.160C>T c.(160-162)Cgg>Tgg p.R54W BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.R54W|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.R54W NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 54 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATGGAAGTGCGGTTCTTCAG 0.562000 34 110 0 0 1 0 0 ST20 400410 broad.mit.edu 37 15 80191317 80191317 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:80191317G>C ENST00000478497.1 - 3 875 c.196C>G c.(196-198)Ctg>Gtg p.L66V ST20_ENST00000485386.1_Missense_Mutation_p.L66V|ST20-MTHFS_ENST00000479961.1_Intron|ST20-MTHFS_ENST00000494999.1_Intron|ST20_ENST00000562759.1_Missense_Mutation_p.L66V NM_001100879.1 NP_001094349.1 suppressor of tumorigenicity 20 kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 GTAAGAGTCAGAAAAATTAGG 0.373000 22 79 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26688651 26688651 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:26688651C>T ENST00000436292.1 - 6 1279 c.1159G>A c.(1159-1161)Gga>Aga p.G387R ZNF683_ENST00000374204.1_Intron|ZNF683_ENST00000349618.3_Intron|ZNF683_ENST00000403843.1_Missense_Mutation_p.G387R Q8IZ20 ZN683_HUMAN zinc finger protein 683 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) TGATTTCTTCCTGGAACCCAC 0.502000 5 19 0 0 1 0 0 ARID4B 51742 broad.mit.edu 37 1 235335980 235335980 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:235335980G>A ENST00000264183.3 - 23 4261 c.3764C>T c.(3763-3765)gCt>gTt p.A1255V ARID4B_ENST00000349213.3_Missense_Mutation_p.A1169V|ARID4B_ENST00000366603.2_Missense_Mutation_p.A1255V NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 1255 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) ATCAATGGAAGCTACTTCAGA 0.318000 4 19 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89499368 89499368 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:89499368C>T ENST00000336596.2 + 15 2763 c.2538C>T c.(2536-2538)ccC>ccT p.P846P EPHA3_ENST00000494014.1_Silent_p.P846P NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 846 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGCCACCCCCCATGGACTGCC 0.473000 TSP Lung(6;0.00050) 14 40 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75015200 75015200 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:75015200G>C ENST00000379727.3 - 2 437 c.239C>G c.(238-240)tCc>tGc p.S80C CYP1A1_ENST00000567032.1_Missense_Mutation_p.S80C|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S80C|CYP1A1_ENST00000395049.4_Missense_Mutation_p.S80C|CYP1A1_ENST00000564596.1_Intron P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 80 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CACGGGTGTGGAGCCAATTCG 0.632000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 17 54 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423371 26423371 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:26423371G>A ENST00000335473.7 + 43 7681 c.7431G>A c.(7429-7431)acG>acA p.T2477T MYO18B_ENST00000407587.2_Silent_p.T2478T|MYO18B_ENST00000536101.1_Silent_p.T2477T NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2477 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ACTTTGAAACGGAAGAGGCTA 0.557000 27 68 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190106101 190106101 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:190106101G>A ENST00000264734.2 + 1 441 c.193G>A c.(193-195)Gat>Aat p.D65N CLDN16_ENST00000456423.1_Missense_Mutation_p.D65N|CLDN16_ENST00000468220.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 65 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) TTGCCATCCTGATGGGCTGCT 0.507000 37 94 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118235857 118235857 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:118235857C>G ENST00000252108.3 + 2 193 c.62C>G c.(61-63)tCc>tGc p.S21C UBE4A_ENST00000431736.2_Missense_Mutation_p.S21C NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 21 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CTTTTTGGCTCCCTGGCTGAT 0.458000 12 34 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747097 158747097 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:158747097G>A ENST00000339258.1 - 1 328 c.329C>T c.(328-330)tCt>tTt p.S110F NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GTAGCATTCAGACGCTCCCAA 0.463000 22 93 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57955640 57955640 + Nonsense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:57955640G>C ENST00000325752.3 - 5 870 c.593C>G c.(592-594)tCa>tGa p.S198* TUBD1_ENST00000376094.4_Nonsense_Mutation_p.S198*|TUBD1_ENST00000539018.1_5'UTR|TUBD1_ENST00000592426.1_Nonsense_Mutation_p.S198*|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Nonsense_Mutation_p.S198*|TUBD1_ENST00000340993.6_Nonsense_Mutation_p.S198* NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 198 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) GAGGGCGTCTGAAGATCGGTA 0.388000 28 95 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230632274 230632274 + Missense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:230632274G>T ENST00000283943.5 - 41 6153 c.5975C>A c.(5974-5976)tCc>tAc p.S1992Y TRIP12_ENST00000389045.3_Missense_Mutation_p.S1722Y|TRIP12_ENST00000389044.4_Missense_Mutation_p.S2040Y NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1992 HECT. SSIEIMREKLLIAAREGQQSFHLS -> QALRYA (in Ref. 2). protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTATGATCAGGAAAGATGGAA 0.393000 6 110 5.9392e-07 6.14027e-07 1 1 0 MYH9 4627 broad.mit.edu 37 22 36710351 36710351 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:36710351C>G ENST00000216181.5 - 13 1623 c.1393G>C c.(1393-1395)Gag>Cag p.E465Q NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 465 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CACAGCTGCTCAAACGAGTTC 0.547000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 4 93 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53227877 53227877 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:53227877G>C ENST00000330553.5 - 1 202 c.168C>G c.(166-168)ggC>ggG p.G56G NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 56 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGCTGCCAAAGCCACCTGTGC 0.667000 28 95 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370926 240370926 + Silent SNP C C T rs71170718 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:240370926C>T ENST00000319653.9 + 5 3044 c.2814C>T c.(2812-2814)ccC>ccT p.P938P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 938 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1081P(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCTACCCGGAGCGGGAA 0.697000 34 50 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415715 86415715 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:86415715G>A ENST00000361669.2 + 3 1706 c.607G>A c.(607-609)Gag>Aag p.E203K AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.E203K|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.E75K|GRM3_ENST00000394720.2_Missense_Mutation_p.E201K NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 203 synaptic transmission integral to plasma membrane p.E203Q(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGCCATGGCTGAGATCTTGCG 0.582000 45 94 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142571366 142571366 + Silent SNP G G A rs147746494 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:142571366G>A ENST00000359396.3 - 13 1868 c.1623C>T c.(1621-1623)atC>atT p.I541I NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 541 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CTGGGCCATCGATGATGGTAA 0.542000 112 106 0 0 1 0 0 FBXW5 54461 broad.mit.edu 37 9 139837261 139837261 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:139837261C>T ENST00000325285.3 - 4 565 c.486G>A c.(484-486)ccG>ccA p.P162P FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 162 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) AGGAGTTGTGCGGCCCCAGGA 0.662000 5 100 0 0 1 0 0 HYAL1 3373 broad.mit.edu 37 3 50339650 50339650 + Silent SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr3:50339650G>T ENST00000266031.4 - 1 1353 c.738C>A c.(736-738)atC>atA p.I246I HYAL1_ENST00000395143.2_Silent_p.I246I|HYAL1_ENST00000395144.2_Silent_p.I246I|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Silent_p.I64I|HYAL1_ENST00000320295.8_Silent_p.I246I Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 246 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) CGGGCATGTAGATGCTGGGAT 0.617000 20 63 3.5997e-14 3.83132e-14 1 1 0 NVL 4931 broad.mit.edu 37 1 224492497 224492497 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:224492497C>G ENST00000281701.6 - 8 1025 c.766G>C c.(766-768)Gaa>Caa p.E256Q NVL_ENST00000469075.1_Missense_Mutation_p.E165Q|NVL_ENST00000391875.2_Missense_Mutation_p.E150Q|NVL_ENST00000482491.1_5'UTR|NVL_ENST00000340871.4_Missense_Mutation_p.E40Q|NVL_ENST00000361463.3_Missense_Mutation_p.E150Q NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 256 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) ATCTGGAATTCTAACCCCCTG 0.318000 8 148 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678400 100678400 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:100678400G>C ENST00000306151.4 + 3 3767 c.3703G>C c.(3703-3705)Gag>Cag p.E1235Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1235 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCCAGTTCTGAGGCTAGCAC 0.517000 188 488 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66460512 66460512 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:66460512G>C ENST00000404260.3 + 29 5822 c.5514G>C c.(5512-5514)gtG>gtC p.V1838V MAST4_ENST00000403666.1_Silent_p.V1646V|MAST4_ENST00000261569.7_Silent_p.V1641V|MAST4_ENST00000405643.1_Silent_p.V1656V|MAST4_ENST00000403625.2_Silent_p.V1835V O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1838 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GTGGTGACGTGAGGGCCTCTG 0.552000 3 78 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63922762 63922762 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:63922762C>T ENST00000443617.2 - 69 12956 c.12869G>A c.(12868-12870)gGa>gAa p.G4290E NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4290 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TATGATTACTCCAGCCAGGAC 0.488000 62 176 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5790579 5790579 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:5790579C>T ENST00000328090.5 + 15 5820 c.5195C>T c.(5194-5196)aCg>aTg p.T1732M NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1732 GCCATCCACACGCTGCAAGAT 0.488000 25 58 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20094894 20094894 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:20094894C>T ENST00000351989.3 + 12 2526 c.2097C>T c.(2095-2097)ggC>ggT p.G699G DGCR8_ENST00000383024.2_Silent_p.G666G|DGCR8_ENST00000407755.1_Silent_p.G666G NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 699 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GCATGTATGGCCGTGAGAGCA 0.552000 4 153 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134994509 134994509 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chrX:134994509G>C ENST00000535938.1 + 19 2718 c.2551G>C c.(2551-2553)Gag>Cag p.E851Q SAGE1_ENST00000370709.3_Missense_Mutation_p.E851Q|SAGE1_ENST00000537770.1_Missense_Mutation_p.E475Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.E851Q NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 851 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TTTGCTTGAAGAGGTACAAGG 0.308000 58 45 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229738001 229738001 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:229738001C>G ENST00000366675.3 - 4 1001 c.913G>C c.(913-915)Gag>Cag p.E305Q TAF5L_ENST00000258281.2_Missense_Mutation_p.E305Q|TAF5L_ENST00000366676.1_Missense_Mutation_p.E305Q NM_001025247.1 NP_001020418.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 305 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) TGGTGGGGCTCTGATTTTAAC 0.468000 16 44 0 0 1 0 0 IGKV4-1 28908 broad.mit.edu 37 2 89185579 89185579 + RNA SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:89185579C>T ENST00000390243.2 + 0 448 TCAGTGGCAGCGGGTCTGGGA 0.527000 26 63 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74972117 74972117 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:74972117G>A ENST00000262144.6 - 8 712 c.582C>T c.(580-582)atC>atT p.I194I NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 194 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 CCAGGCCATGGATTTTGGAGA 0.493000 28 127 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043059 153043059 + Missense_Mutation SNP C C T rs17852097 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:153043059C>T ENST00000367245.5 + 2 387 c.379C>T c.(379-381)Cgc>Tgc p.R127C MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 127 R -> G (in dbSNP:rs17852097). nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TGGATTTTACCGCCACAGTGG 0.517000 37 86 0 0 1 0 0 PPP6R1 22870 broad.mit.edu 37 19 55752345 55752345 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:55752345C>T ENST00000412770.2 - 10 1830 c.1264G>A c.(1264-1266)Gag>Aag p.E422K PPP6R1_ENST00000587283.1_Missense_Mutation_p.E422K NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 422 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 ATGGGCGTCTCAGGGCTGCTG 0.587000 4 21 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186050343 186050343 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:186050343G>A ENST00000271588.4 + 56 8833 c.8604G>A c.(8602-8604)ccG>ccA p.P2868P HMCN1_ENST00000367492.2_Silent_p.P2868P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2868 Ig-like C2-type 27. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTTAGTGCCGCCAATTATCA 0.423000 4 195 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777403 237777403 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:237777403C>T ENST00000366574.2 + 37 5292 c.4975C>T c.(4975-4977)Cgg>Tgg p.R1659W RYR2_ENST00000542537.1_Missense_Mutation_p.R1643W|RYR2_ENST00000360064.6_Missense_Mutation_p.R1657W NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1659 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCACACTCTCCGGCTCTACTC 0.498000 12 39 0 0 1 0 0 OR2A7 401427 broad.mit.edu 37 7 143955990 143955990 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:143955990G>A ENST00000493325.1 - 1 825 c.732C>T c.(730-732)ctC>ctT p.L244L RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000478806.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) CAATCACACAGAGGTGGGAGA 0.453000 39 417 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 160983072 160983072 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:160983072G>A ENST00000283249.2 - 11 1938 c.1701C>T c.(1699-1701)agC>agT p.S567S ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Silent_p.S567S|ITGB6_ENST00000428609.2_Silent_p.S525S P18564 ITB6_HUMAN integrin, beta 6 567 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 CAGTCCAGCCGCTCCTGCACA 0.567000 31 91 0 0 1 0 0 C9orf153 389766 broad.mit.edu 37 9 88842265 88842265 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:88842265G>C ENST00000376001.3 - 4 369 c.289C>G c.(289-291)Cca>Gca p.P97A C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron NM_001276366.1 NP_001263295.1 Q5TBE3 CI153_HUMAN chromosome 9 open reading frame 153 97 breast(1)|lung(1) 2 tttatttttggagatggggtc 0.358000 18 24 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50656375 50656375 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:50656375G>A ENST00000248846.5 - 24 5444 c.5340C>T c.(5338-5340)ttC>ttT p.F1780F TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1780 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGTAGTACTTGAAGGTGTTGT 0.657000 4 108 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149206434 149206434 + Missense_Mutation SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr5:149206434G>C ENST00000309241.5 + 3 483 c.451G>C c.(451-453)Gac>Cac p.D151H PPARGC1B_ENST00000394320.3_Missense_Mutation_p.D151H|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.D126H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.D151H NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 151 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCCTGAGGTGGACGAGCTCTC 0.612000 18 80 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838266 100838266 + Missense_Mutation SNP T T G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:100838266T>G ENST00000369208.3 - 12 3054 c.2272A>C c.(2272-2274)Aca>Cca p.T758P SIM1_ENST00000262901.4_Missense_Mutation_p.T758P P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 758 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) ATAACAGATGTTCCCTTGTGT 0.393000 28 113 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1235876 1235876 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:1235876C>T ENST00000590083.1 - 3 439 c.147G>A c.(145-147)gtG>gtA p.V49V C19orf26_ENST00000382477.2_Silent_p.V43V|C19orf26_ENST00000215376.6_Silent_p.V43V Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 43 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) ACATCACCACCACCAGCAGCA 0.667000 HNSCC(14;0.022) 39 147 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49195904 49195904 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr2:49195904C>T ENST00000406846.2 - 9 906 c.787G>A c.(787-789)Gcc>Acc p.A263T FSHR_ENST00000304421.4_Missense_Mutation_p.A237T|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 263 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding p.A263T(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCCATGAGGGCGACAAGCTTT 0.498000 Gonadal Dysgenesis, 46 XX 22 69 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5238511 5238511 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:5238511C>T ENST00000262477.6 + 4 624 c.400C>T c.(400-402)Ctt>Ttt p.L134F RABEP1_ENST00000546142.2_Missense_Mutation_p.L134F|RABEP1_ENST00000408982.2_Missense_Mutation_p.L134F|RABEP1_ENST00000341923.6_Missense_Mutation_p.L134F|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000537505.1_Missense_Mutation_p.L91F NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 134 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 CCAGTTCCACCTTAGGCTGGA 0.423000 17 50 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79434581 79434581 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr14:79434581C>G ENST00000554719.1 + 11 2406 c.1915C>G c.(1915-1917)Cga>Gga p.R639G NRXN3_ENST00000335750.5_Missense_Mutation_p.R639G NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 245 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CGTGGCCTCTCGAGATGGCTT 0.517000 37 74 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754481 76754481 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr18:76754481G>A ENST00000536229.3 + 1 2800 c.2091G>A c.(2089-2091)ccG>ccA p.P697P SALL3_ENST00000575389.2_Silent_p.P830P|SALL3_ENST00000537592.2_Silent_p.P830P Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 830 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGTCCTGCCCGCCCTCCCCGC 0.642000 14 40 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101194799 101194799 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:101194799G>A ENST00000294728.2 + 5 1166 c.1065G>A c.(1063-1065)ctG>ctA p.L355L VCAM1_ENST00000370119.4_Silent_p.L293L|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 355 Ig-like C2-type 4. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ACAGCCCTCTGAGCGGGAAGG 0.522000 27 106 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463797 25463797 + RNA SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr15:25463797G>C ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA|SNHG14_ENST00000365067.1_RNA NR_003305.1 TTGTCCTGAAGAGAGGTGATG 0.522000 130 413 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39090609 39090609 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:39090609G>A ENST00000591517.1 - 22 1653 c.1625C>T c.(1624-1626)aCt>aTt p.T542I MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.T538I|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.T542I|CTB-186G2.1_ENST00000589557.1_RNA NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 542 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CACCCACGTAGTCCGGCTAGG 0.602000 47 158 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67706499 67706499 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:67706499G>A ENST00000545606.1 + 15 4019 c.3582G>A c.(3580-3582)ctG>ctA p.L1194L NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 1194 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) AGAGTCCACTGATGAGTGAAT 0.428000 22 63 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272769 17272769 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:17272769G>A ENST00000375541.5 + 16 2221 c.2152G>A c.(2152-2154)Gtg>Atg p.V718M CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 718 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) GGCTGGCCGCGTGGAGCTCGA 0.632000 12 62 0 0 1 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 98923207 98923207 + Splice_Site SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr10:98923207G>T ENST00000453547.2 - 13 1547 c.1546_splice c.e13-1 p.C516_splice SLIT1_ENST00000266058.4_Splice_Site_p.Q91_splice|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371041.3_Splice_Site_p.Q91_splice|SLIT1_ENST00000371070.4_Splice_Site_p.Q91_splice TCCATCAGCTGCCTGGGGAAG 0.602000 127 340 1.45828e-52 1.57748e-52 1 1 0 SLC5A2 6524 broad.mit.edu 37 16 31501731 31501731 + Nonsense_Mutation SNP G G T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr16:31501731G>T ENST00000330498.3 + 14 1913 c.1894G>T c.(1894-1896)Gag>Tag p.E632* C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR|SLC5A2_ENST00000564197.1_Intron NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 632 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TACCCAGGAGGAGGCAGCGGC 0.672000 11 19 6.40141e-05 6.53306e-05 1 1 0 CRHR2 1395 broad.mit.edu 37 7 30702317 30702317 + Silent SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:30702317G>A ENST00000471646.1 - 6 1107 c.690C>T c.(688-690)atC>atT p.I230I CRHR2_ENST00000348438.4_Silent_p.I257I|CRHR2_ENST00000341843.4_Silent_p.I216I|CRHR2_ENST00000506074.2_Silent_p.I230I NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 230 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACACCATCCGATGAAGAGGA 0.592000 25 69 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117240317 117240317 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:117240317G>A ENST00000332958.2 + 11 1056 c.1040G>A c.(1039-1041)aGa>aAa p.R347K NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 347 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GCAGACATAAGAAATTTTGCT 0.308000 18 63 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68698966 68698966 + Silent SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:68698966C>G ENST00000283916.6 - 7 746 c.648G>C c.(646-648)ctG>ctC p.L216L RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Silent_p.L99L NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 216 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 TGTTATTGATCAGGCTGCCTC 0.537000 29 87 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12198305 12198305 + Missense_Mutation SNP C C T rs141539189 byFrequency TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:12198305C>T ENST00000263932.2 + 14 1577 c.1355C>T c.(1354-1356)tCg>tTg p.S452L TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S340L|TNFRSF8_ENST00000479933.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 452 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AGTGGTGCGTCGGTGACAGAA 0.627000 14 57 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36708234 36708234 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr22:36708234C>T ENST00000216181.5 - 14 1818 c.1588G>A c.(1588-1590)Gag>Aag p.E530K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 530 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity p.E530K(1) NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CAGCACTCCTCGTCCAGCAGG 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 28 69 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100421281 100421281 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:100421281C>T ENST00000358173.3 - 3 864 c.396G>A c.(394-396)gaG>gaA p.E132E EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E132E NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 132 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TGTAGGGGTTCTCCATCCAGG 0.657000 33 55 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66325221 66325221 + RNA SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:66325221G>A ENST00000513398.1 + 0 1046 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 CCGTGTGGGTGAGCCCAGCAT 0.632000 7 24 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841624 8841624 + Silent SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:8841624C>T ENST00000324060.2 + 1 309 c.234C>T c.(232-234)atC>atT p.I78I NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGGTCACCATCCCCAAGATGG 0.547000 32 99 0 0 1 0 0 MAPK7 5598 broad.mit.edu 37 17 19283202 19283202 + Missense_Mutation SNP A A G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:19283202A>G ENST00000308406.5 + 3 726 c.340A>G c.(340-342)Atc>Gtc p.I114V MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.I114V|MAPK7_ENST00000395602.4_Missense_Mutation_p.I114V NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 114 Protein kinase.|Required for binding to MAP2K5 (By similarity). cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) ACACGACAACATCATCGCCAT 0.522000 40 102 0 0 1 0 0 EPHX1 2052 broad.mit.edu 37 1 226032238 226032238 + Silent SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:226032238C>G ENST00000366837.4 + 8 1276 c.1080C>G c.(1078-1080)ctC>ctG p.L360L EPHX1_ENST00000272167.5_Silent_p.L360L|RP11-285F7.2_ENST00000424332.1_RNA NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 360 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) ACGTCATGCTCTACTGGACAA 0.572000 4 89 0 0 1 0 0 CCL19 6363 broad.mit.edu 37 9 34691101 34691101 + Silent SNP G G C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr9:34691101G>C ENST00000311925.2 - 1 173 c.36C>G c.(34-36)ctC>ctG p.L12L CCL19_ENST00000378800.3_Silent_p.L12L NM_006274.2 NP_006265.1 Q99731 CCL19_HUMAN chemokine (C-C motif) ligand 19 12 activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation extracellular space CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GGGAAGTCCAGAGAACCAGCA 0.602000 14 16 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55958791 55958791 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:55958791G>A ENST00000263923.4 - 22 3357 c.3062C>T c.(3061-3063)tCg>tTg p.S1021L NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1021 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TACCTTTCGCGATGCCAAGAA 0.458000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 16 60 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135272633 135272633 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:135272633C>T ENST00000285968.6 + 10 1392 c.1366C>T c.(1366-1368)Cat>Tat p.H456Y NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 456 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GAACCCTTTTCATCTGGAGCT 0.433000 18 75 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77758764 77758764 + Missense_Mutation SNP G G A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:77758764G>A ENST00000310942.4 + 5 1626 c.1522G>A c.(1522-1524)Gtc>Atc p.V508I NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 508 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGTCACCGACGTCACTGCCAA 0.622000 25 57 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130897293 130897293 + Missense_Mutation SNP C C T TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr12:130897293C>T ENST00000261655.4 - 15 2855 c.2692G>A c.(2692-2694)Gaa>Aaa p.E898K NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 898 SH3 2. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCACAGGTTTCCCCACGGTAG 0.438000 19 61 0 0 1 0 0 INTS6-AS1 100507398 broad.mit.edu 37 13 52035196 52035196 + RNA SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr13:52035196C>A ENST00000594959.1 + 0 411 INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000596180.1_RNA CGACACTGGTCACCTGTGTAT 0.453000 4 32 0.00024832 0.000252131 1 1 0 C1QC 714 broad.mit.edu 37 1 22973835 22973835 + Silent SNP C C A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:22973835C>A ENST00000374639.3 + 3 415 c.297C>A c.(295-297)ccC>ccA p.P99P C1QC_ENST00000374640.4_Silent_p.P99P|C1QC_ENST00000374637.1_Silent_p.P99P NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 99 Collagen-like. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CAGGGGTGCCCGGCCCCATGG 0.647000 20 64 4.96729e-08 5.2032e-08 1 1 0 STK38 11329 broad.mit.edu 37 6 36492197 36492197 + Missense_Mutation SNP A A C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr6:36492197A>C ENST00000229812.7 - 4 512 c.227T>G c.(226-228)tTt>tGt p.F76C NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 76 Interaction with S100B. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAAACGAAGAAACTCTGTTTC 0.398000 27 66 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55509581 55509582 + Frame_Shift_Del DEL AG AG - TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:55509581_55509582delAG ENST00000302118.5 + 2 563_564 c.273_274delAG c.(271-276)tcagfs p.SE91fs PCSK9_ENST00000452118.2_Frame_Shift_Del_p.SE91fs|PCSK9_ENST00000543384.1_Intron NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 91 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 TCTCGCAGTCAGAGCGCACTGC 0.624 15 60 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181759648 181759651 + Frame_Shift_Del DEL ATGG ATGG - TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr1:181759648_181759651delATGG ENST00000526775.1 + 43 5962_5965 c.5797_5800delATGG c.(5797-5802)acfs p.MD1933fs CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.MD1884fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.MD1903fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.MD1952fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.MD1952fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.MD1559fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.MD1933fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1952 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GTTGGCTTGTATGGACCCCGCCGA 0.495 14 50 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187521139 187521140 + Frame_Shift_Ins INS - - TACT TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:187521139_187521140insTACT ENST00000441802.2 - 22 12224_12225 c.12015_12016insAGTA c.(12013-12018)gtctccfs p.S4006fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4006 Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAGCCTGGAGATACATCCACCG 0.540 HNSCC(5;0.00058) 45 109 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187538959 187538960 + Frame_Shift_Ins INS - - A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr4:187538959_187538960insA ENST00000441802.2 - 10 8989_8990 c.8780_8781insT c.(8779-8781)gagfs p.E2927fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2927 Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CATCCTCACTCACAGTCCCTTT 0.470 HNSCC(5;0.00058) 41 101 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 152012225 152012228 + Frame_Shift_Del DEL TCTC TCTC - TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr7:152012225_152012228delTCTC ENST00000355193.2 - 4 803_806 c.585_588delGAGA c.(583-588)cafs p.QR195fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.QR195fs lysine (K)-specific methyltransferase 2C CTGCTTACTTTCTCTGTCCTCTTT 0.333 85 56 --- --- --- --- PPP2CB 5516 broad.mit.edu 37 8 30669897 30669898 + Frame_Shift_Ins INS - - C TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr8:30669897_30669898insC ENST00000221138.4 - 1 490_491 c.40_41insG c.(40-42)cgafs p.R14fs PPP2CB_ENST00000520500.1_Intron|PPP2CB_ENST00000518564.1_Frame_Shift_Ins_p.R14fs NM_001009552.1 NP_001009552.1 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta isozyme 14 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) CAGCTGCTCGACCCACTGGTCC 0.708 10 26 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 6 8 --- --- --- --- OR3A2 4995 broad.mit.edu 37 17 3181557 3181559 + In_Frame_Del DEL TGA TGA - TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:3181557_3181559delTGA ENST00000408891.2 - 1 709_711 c.671_673delTCA c.(670-675)act>a p.IT224del NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 224 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CTGTAGGCAGTGATGATGAGAAC 0.567 23 90 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 7 52 --- --- --- --- NAGLU 4669 broad.mit.edu 37 17 40693145 40693146 + Frame_Shift_Del DEL CA CA - rs118204025 TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:40693145_40693146delCA ENST00000225927.2 + 5 1043_1044 c.942_943delCA c.(940-945)ttatfs p.FN314fs RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 314 F -> L (in MPS3B). lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCGACACTTTCAATGAGATGCA 0.584 52 98 --- --- --- --- TUBD1 51174 broad.mit.edu 37 17 57958381 57958382 + Frame_Shift_Ins INS - - A TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:57958381_57958382insA ENST00000325752.3 - 4 687_688 c.410_411insT c.(409-411)tatfs p.Y137fs TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000394239.3_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000340993.6_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000376094.4_Frame_Shift_Ins_p.Y137fs|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000592426.1_Frame_Shift_Ins_p.Y137fs NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 137 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TCATTATGATGAAAAAACCACT 0.396 43 170 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740643 58740643 + Frame_Shift_Del DEL A A - TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr17:58740643delA ENST00000305921.3 + 6 1780 c.1548delA c.(1546-1548)tcfs p.S516fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 516 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TGAAGATGTCAACTCCTGGCC 0.393 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 32 81 --- --- --- --- UPF1 5976 broad.mit.edu 37 19 18976359 18976379 + Splice_Site DEL CTGTCTTTCAGGGCGAGGCAC CTGTCTTTCAGGGCGAGGCAC - TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e33eddc-c0eb-4f34-a43a-37e8248206aa 00dcd698-1f0f-4cd5-9c65-c3b0fbaf2d27 g.chr19:18976359_18976379delCTGTCTTTCAGGGCGAGGCAC ENST00000262803.5 + 22 3291_3301 c.3019_splice c.e22-1 p.1007_splice UPF1_ENST00000599848.1_Splice_Site_p.1018_splice NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 1018 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CCCTGGACTGCTGTCTTTCAGGGCGAGGCACCCCGAAAGGC 0.633 20 87 --- --- --- ---