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 LRIG2 9860 broad.mit.edu 37 1 113636139 113636139 + Silent SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:113636139A>T ENST00000361127.4 + 4 666 c.468A>T c.(466-468)atA>atT p.I156I NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 156 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CAAATATAATATCAGAAATCA 0.358000 7 31 0 0 0.000157383 0 0 CACNA1I 8911 broad.mit.edu 37 22 40066099 40066099 + Silent SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:40066099C>A ENST00000336649.4 + 28 4269 c.4269C>A c.(4267-4269)atC>atA p.I1423I CACNA1I_ENST00000401624.1_Silent_p.I1417I|CACNA1I_ENST00000407673.1_Silent_p.I1382I|CACNA1I_ENST00000400164.3_Silent_p.I1382I|CACNA1I_ENST00000404898.1_Silent_p.I1382I|CACNA1I_ENST00000402142.3_Silent_p.I1417I Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1417 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCCTGCTCATCGTCAGCTTCT 0.582000 17 316 5.3912e-06 1.93782e-05 0.00074312 1 0 TRIO 7204 broad.mit.edu 37 5 14485286 14485286 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:14485286C>T ENST00000344204.4 + 47 6790 c.6766C>T c.(6766-6768)Cca>Tca p.P2256S TRIO_ENST00000537187.1_Missense_Mutation_p.P2256S NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2256 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TTCATCTAGTCCAAGTGTCCG 0.413000 6 216 0 0 0.00198382 0 0 FER1L5 90342 broad.mit.edu 37 2 97369275 97369275 + RNA SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:97369275A>G ENST00000457909.1 + 0 5210 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 GGTGAAGATGAGCCTGGAGAT 0.572000 12 32 0 0 0.000978159 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093537 143093537 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:143093537G>A ENST00000367603.2 - 5 3081 c.2339C>T c.(2338-2340)gCc>gTc p.A780V HIVEP2_ENST00000012134.2_Missense_Mutation_p.A780V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A780V NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 780 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGAATCAATGGCTGAAGGTGA 0.512000 13 64 0 0 0.00185496 0 0 GPR39 2863 broad.mit.edu 37 2 133403103 133403103 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:133403103A>T ENST00000329321.3 + 2 1755 c.1286A>T c.(1285-1287)gAg>gTg p.E429V LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 429 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGAGTCTCGAGTCACTAGAG 0.522000 15 62 0 0 0.00244969 0 0 KDELC2 143888 broad.mit.edu 37 11 108348424 108348424 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:108348424T>C ENST00000434945.2 - 6 1442 c.1140A>G c.(1138-1140)gaA>gaG p.E380E KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000323468.5_Silent_p.E436E Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 436 endoplasmic reticulum lumen breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TCTTCTTGGCTTCTTCATCAT 0.413000 17 71 0 0 0.000958276 0 0 ZBTB44 29068 broad.mit.edu 37 11 130131282 130131282 + Missense_Mutation SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:130131282C>A ENST00000525842.1 - 2 854 c.487G>T c.(487-489)Gtg>Ttg p.V163L ZBTB44_ENST00000357899.4_Missense_Mutation_p.V163L|ZBTB44_ENST00000530205.1_Missense_Mutation_p.V163L|ZBTB44_ENST00000397753.1_Missense_Mutation_p.V163L NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TCTGAGGACACGGGAGAAATG 0.453000 8 42 5.18039e-06 1.87516e-05 0.000157383 1 0 NBEA 26960 broad.mit.edu 37 13 35770345 35770345 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:35770345G>A ENST00000540320.1 + 31 5806 c.5272G>A c.(5272-5274)Gca>Aca p.A1758T NBEA_ENST00000400445.3_Missense_Mutation_p.A1758T|NBEA_ENST00000379939.2_Missense_Mutation_p.A1755T|NBEA_ENST00000310336.4_Missense_Mutation_p.A1758T Q8NFP9 NBEA_HUMAN neurobeachin 1758 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGTTGAAATAGCAGAATGTGG 0.428000 12 44 0 0 0.00136819 0 0 ANGPT1 284 broad.mit.edu 37 8 108264120 108264120 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:108264120C>T ENST00000520734.1 - 8 1145 c.860G>A c.(859-861)cGt>cAt p.R287H ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.R286H Q15389 ANGP1_HUMAN angiopoietin 1 487 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding p.R487H(1) NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) AGTTGTGGAACGTAAGGAGTA 0.428000 7 147 0 0 0.000157383 0 0 PRPF40B 25766 broad.mit.edu 37 12 50036081 50036081 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:50036081C>T ENST00000261897.1 + 19 2394 c.1843C>T c.(1843-1845)Cgc>Tgc p.R615C PRPF40B_ENST00000548825.2_Missense_Mutation_p.R650C|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000380281.1_Missense_Mutation_p.R628C Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 628 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CAGGATGCGGCGCAGGGAAGC 0.642000 8 84 0 0 0.000274275 0 0 SORBS1 10580 broad.mit.edu 37 10 97174256 97174256 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:97174256T>A ENST00000371247.2 - 9 994 c.805A>T c.(805-807)Agt>Tgt p.S269C SORBS1_ENST00000277982.5_Missense_Mutation_p.S269C|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.S269C|SORBS1_ENST00000371246.2_Missense_Mutation_p.S269C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000353505.5_Missense_Mutation_p.S200C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.S200C|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.S260C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S269C|SORBS1_ENST00000393949.1_Missense_Mutation_p.S260C|SORBS1_ENST00000371249.2_Missense_Mutation_p.S237C Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 269 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CTTACGGTACTCGAAACAGCT 0.602000 8 47 0 0 0.000274275 0 0 CAPN3 825 broad.mit.edu 37 15 42701996 42701996 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr15:42701996C>T ENST00000397163.3 + 18 2223 c.2004C>T c.(2002-2004)atC>atT p.I668I CAPN3_ENST00000397200.4_Silent_p.I156I|CAPN3_ENST00000397204.4_Silent_p.I3I|CAPN3_ENST00000357568.3_Silent_p.I662I|CAPN3_ENST00000349748.3_Silent_p.I576I|CAPN3_ENST00000356316.3_Silent_p.I575I|CAPN3_ENST00000569136.1_Silent_p.I3I|CAPN3_ENST00000318023.7_Silent_p.I662I|CAPN3_ENST00000337571.4_Silent_p.I3I|CAPN3_ENST00000562199.1_3'UTR|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000561817.1_Silent_p.I3I NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 668 Domain IV.|EF-hand 1. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) ACATGGAGATCTGTGCAGATG 0.542000 29 111 0 0 0.00209593 0 0 ITGA8 8516 broad.mit.edu 37 10 15647748 15647748 + Missense_Mutation SNP G G T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:15647748G>T ENST00000378076.3 - 19 2298 c.1945C>A c.(1945-1947)Cct>Act p.P649T NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 649 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TTCAAGTCAGGAACACACAGA 0.388000 6 31 8.12818e-05 0.00028813 0.00198382 1 0 OR8H1 219469 broad.mit.edu 37 11 56057819 56057819 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:56057819A>G ENST00000313022.2 - 1 747 c.720T>C c.(718-720)tgT>tgC p.C240C NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GATGAGAGGCACAAGTAGACA 0.383000 12 60 0 0 0.000978159 0 0 MC5R 4161 broad.mit.edu 37 18 13826399 13826399 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr18:13826399C>T ENST00000324750.3 + 1 857 c.635C>T c.(634-636)gCg>gTg p.A212V NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 212 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TTCCTCCTGGCGCGGACTCAC 0.612000 23 315 0 0 0.00278032 0 0 SLC46A1 113235 broad.mit.edu 37 17 26731995 26731995 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr17:26731995G>A ENST00000440501.1 - 2 815 c.720C>T c.(718-720)acC>acT p.T240T SLC46A1_ENST00000584729.1_5'UTR|SLC46A1_ENST00000321666.5_Silent_p.T240T NM_080669.4 NP_542400.2 Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 240 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) TGAAGAGCCGGGTGGACTTTG 0.547000 6 125 0 0 0.00116845 0 0 CA6 765 broad.mit.edu 37 1 9009363 9009363 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:9009363G>A ENST00000377443.2 + 2 125 c.121G>A c.(121-123)Gcc>Acc p.A41T CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Missense_Mutation_p.A41T|CA6_ENST00000319474.2_Missense_Mutation_p.A41T NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 41 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GCACTACCCCGCCTGTGGGGG 0.597000 10 27 0 0 0.000978159 0 0 MOGS 7841 broad.mit.edu 37 2 74688529 74688529 + Nonsense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:74688529C>T ENST00000233616.4 - 4 2549 c.2387G>A c.(2386-2388)tGg>tAg p.W796* MOGS_ENST00000452063.2_Nonsense_Mutation_p.W690*|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 796 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GTACTGGCGCCATACATTGCC 0.622000 10 80 0 0 0.000442599 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899866 112899866 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:112899866A>T ENST00000374530.3 + 8 2222 c.2042A>T c.(2041-2043)gAt>gTt p.D681V AKAP2_ENST00000374525.1_Missense_Mutation_p.D539V|AKAP2_ENST00000259318.7_Missense_Mutation_p.D450V|AKAP2_ENST00000555236.1_Missense_Mutation_p.D681V|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.D681V|AKAP2_ENST00000510514.5_Missense_Mutation_p.D681V|AKAP2_ENST00000434623.2_Missense_Mutation_p.D539V NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 450 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GTCAAGGATGATGACCATGGG 0.522000 84 87 0 0 0.000781405 0 0 COL2A1 1280 broad.mit.edu 37 12 48367278 48367278 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:48367278C>T ENST00000380518.3 - 54 4540 c.4376G>A c.(4375-4377)cGc>cAc p.R1459H COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R1390H NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1459 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GATGGGGAGGCGTGAGGTCTT 0.527000 24 56 0 0 0.00278032 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559121 129559121 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:129559121C>T ENST00000422113.2 - 9 2925 c.2599G>A c.(2599-2601)Ggc>Agc p.G867S TMEM132D_ENST00000389441.4_Missense_Mutation_p.G405S NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 867 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CTTTCCTGGCCTTTCTTCTTC 0.567000 6 55 0 0 0.00116845 0 0 LIMK1 3984 broad.mit.edu 37 7 73535347 73535347 + Silent SNP C C T rs55722104 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:73535347C>T ENST00000418310.1 + 15 1941 c.1839C>T c.(1837-1839)acC>acT p.T613T LIMK1_ENST00000336180.2_Silent_p.T583T|LIMK1_ENST00000538333.3_Silent_p.T549T P53667 LIMK1_HUMAN LIM domain kinase 1 583 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) TCCCCATCACCGTGCGCTGTT 0.662000 41 189 0 0 0.000680045 0 0 CTNNA3 29119 broad.mit.edu 37 10 69407256 69407256 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:69407256G>A ENST00000433211.1 - 2 190 c.16C>T c.(16-18)Cca>Tca p.P6S CTNNA3_ENST00000545309.1_Missense_Mutation_p.P6S|CTNNA3_ENST00000373744.4_Missense_Mutation_p.P6S NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 6 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AATGTGATTGGTGTTTCAGCT 0.393000 13 105 0 0 0.00244969 0 0 KIAA1468 57614 broad.mit.edu 37 18 59928749 59928749 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr18:59928749A>G ENST00000256858.6 + 16 2456 c.2208A>G c.(2206-2208)ggA>ggG p.G736G KIAA1468_ENST00000398130.2_Silent_p.G736G Q9P260 K1468_HUMAN KIAA1468 736 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) TTCAGGAAGGAGAACATGGAC 0.393000 9 44 0 0 0.000442599 0 0 TCTE1 202500 broad.mit.edu 37 6 44247948 44247948 + Silent SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:44247948A>T ENST00000371505.4 - 5 1598 c.1476T>A c.(1474-1476)acT>acA p.T492T TCTE1_ENST00000371504.1_Silent_p.T189T|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Silent_p.T189T NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 492 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGCCATTGGCAGTTATGGTTG 0.577000 22 120 0 0 0.000878237 0 0 MAST3 23031 broad.mit.edu 37 19 18235532 18235532 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:18235532C>T ENST00000262811.5 + 10 939 c.939C>T c.(937-939)gaC>gaT p.D313D NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 313 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TTAAGACTGACCTTCCACAGT 0.617000 4 35 0 0 0.00024832 0 0 PCNXL4 64430 broad.mit.edu 37 14 60582438 60582438 + Splice_Site SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr14:60582438A>G ENST00000406854.1 + 5 1913 c.1357_splice c.e5-1 p.V453_splice PCNXL4_ENST00000317623.4_Splice_Site_p.V219_splice|PCNXL4_ENST00000404681.2_Splice_Site_p.V453_splice|PCNXL4_ENST00000406949.1_Splice_Site_p.V219_splice pecanex-like 4 (Drosophila) TTGTTTTAGTATCACCTTTTG 0.343000 9 14 0 0 0.000274275 0 0 DIAPH1 1729 broad.mit.edu 37 5 140957813 140957813 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:140957813T>A ENST00000253811.6 - 11 1282 c.1142A>T c.(1141-1143)gAt>gTt p.D381V DIAPH1_ENST00000518047.1_Missense_Mutation_p.D372V|DIAPH1_ENST00000520569.1_Missense_Mutation_p.D327V|DIAPH1_ENST00000398566.3_Missense_Mutation_p.D372V|DIAPH1_ENST00000398562.2_Missense_Mutation_p.D372V|DIAPH1_ENST00000398557.4_Missense_Mutation_p.D381V|DIAPH1_ENST00000389054.3_Missense_Mutation_p.D381V|DIAPH1_ENST00000389057.5_Missense_Mutation_p.D372V O60610 DIAP1_HUMAN diaphanous-related formin 1 381 GBD/FH3. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAATGTCATCCAGCCGTCC 0.433000 17 67 0 0 0.000566183 0 0 NDST2 8509 broad.mit.edu 37 10 75567972 75567972 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:75567972C>T ENST00000309979.6 - 3 731 c.175G>A c.(175-177)Ggg>Agg p.G59R NDST2_ENST00000299641.4_Intron P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 59 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) CCAGCTGCCCCACCGCTGCTG 0.632000 3 16 0 0 6.4e-05 0 0 HPR 3250 broad.mit.edu 37 16 72110789 72110789 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr16:72110789T>C ENST00000540303.2 + 5 888 c.856T>C c.(856-858)Tct>Cct p.S286P HPR_ENST00000228226.8_Missense_Mutation_p.S323P|HPR_ENST00000356967.5_Missense_Mutation_p.S286P|HPR_ENST00000561690.1_Intron NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 286 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) TGTCGGCATGTCTAAGTACCA 0.567000 7 87 0 0 0.000157383 0 0 RP1 6101 broad.mit.edu 37 8 55533931 55533931 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:55533931G>A ENST00000220676.1 + 2 553 c.405G>A c.(403-405)gcG>gcA p.A135A NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 135 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.A135A(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCATTAGCGCGCACTCACCGC 0.692000 5 92 0 0 0.00116845 0 0 USP54 159195 broad.mit.edu 37 10 75289616 75289616 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:75289616A>G ENST00000339859.4 - 14 1982 c.1882T>C c.(1882-1884)Ttt>Ctt p.F628L USP54_ENST00000408019.1_Missense_Mutation_p.F628L|USP54_ENST00000428547.1_Missense_Mutation_p.F478L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.F628L Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 628 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) GGTCCACCAAATTTAATGTCG 0.483000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 130 0 0 0.00116845 0 0 FRAS1 80144 broad.mit.edu 37 4 79460498 79460498 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:79460498T>A ENST00000264895.6 + 73 11789 c.11349T>A c.(11347-11349)ttT>ttA p.F3783L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3778 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATGTGCCTTTTGAGGCTCACT 0.418000 5 133 0 0 0.000602214 0 0 ZNF229 7772 broad.mit.edu 37 19 44933969 44933969 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:44933969G>A ENST00000291187.4 - 6 1291 c.969C>T c.(967-969)ggC>ggT p.G323G ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.G329G|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) TCTGTCTGACGCCCCGACCAC 0.507000 7 77 0 0 0.00198382 0 0 CYP2J2 1573 broad.mit.edu 37 1 60377930 60377930 + Missense_Mutation SNP T T C rs55753213 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:60377930T>C ENST00000371204.3 - 3 470 c.427A>G c.(427-429)Aca>Gca p.T143A CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 143 T -> A (in allele CYP2J2*2; significantly reduced metabolism of both arachidonic acid and linoleic acid; dbSNP:rs55753213). epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) CTTAGTGCTGTCAGAGTGAAC 0.433000 5 61 0 0 0.00198382 0 0 DDX55 57696 broad.mit.edu 37 12 124099831 124099831 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:124099831T>A ENST00000238146.4 + 9 974 c.924T>A c.(922-924)aaT>aaA p.N308K DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Missense_Mutation_p.N308K NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 308 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) ATAAACGCAATAAGATCTTCA 0.493000 9 48 0 0 0.000274275 0 0 CFAP54 144535 broad.mit.edu 37 12 97073479 97073479 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:97073479T>A ENST00000524981.3 + 7 1018 c.1018T>A c.(1018-1020)Tca>Aca p.S340T Q6ZTY8 CL063_HUMAN 314 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 CCATAACAGATCAATCCGACA 0.443000 34 87 0 0 0.000953801 0 0 DPP8 54878 broad.mit.edu 37 15 65759441 65759441 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr15:65759441G>A ENST00000341861.5 - 13 3285 c.1705C>T c.(1705-1707)Cgt>Tgt p.R569C DPP8_ENST00000321147.6_Missense_Mutation_p.R569C|DPP8_ENST00000300141.6_Missense_Mutation_p.R553C|DPP8_ENST00000321118.7_Missense_Mutation_p.R569C|DPP8_ENST00000559233.1_Missense_Mutation_p.R569C|DPP8_ENST00000358939.4_Missense_Mutation_p.R553C|DPP8_ENST00000339244.5_Missense_Mutation_p.R396C NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 569 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GAGTAGCCACGGTCAGTCAGC 0.413000 5 34 0 0 0.000602214 0 0 DCC 1630 broad.mit.edu 37 18 50278466 50278466 + Missense_Mutation SNP A A C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr18:50278466A>C ENST00000442544.2 + 2 750 c.134A>C c.(133-135)gAa>gCa p.E45A NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 45 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTCCTCTCAGAACCTTCTGAT 0.483000 3 31 0 0 0.00024832 0 0 CDC45 8318 broad.mit.edu 37 22 19471460 19471460 + Missense_Mutation SNP G G A rs61752240 byFrequency TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:19471460G>A ENST00000407835.1 + 6 674 c.418G>A c.(418-420)Gat>Aat p.D140N CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.D140N|CDC45_ENST00000404724.3_Missense_Mutation_p.D94N|CDC45_ENST00000263201.1_Missense_Mutation_p.D140N O75419 CDC45_HUMAN cell division cycle 45 140 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 TGAAGAGGAGGATGAAGAGCA 0.433000 7 83 0 0 0.000157383 0 0 KIF25 3834 broad.mit.edu 37 6 168430194 168430194 + Translation_Start_Site SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:168430194C>A ENST00000443060.2 + 0 320 KIF25_ENST00000515361.1_3'UTR|KIF25_ENST00000354419.2_De_novo_Start_OutOfFrame|KIF25_ENST00000351261.3_De_novo_Start_OutOfFrame Q9UIL4 KIF25_HUMAN kinesin family member 25 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TCCCAGCTGACATGGACCTCA 0.502000 15 28 9.16793e-09 3.39016e-08 0.000566183 1 0 PTCH2 8643 broad.mit.edu 37 1 45293249 45293249 + Missense_Mutation SNP C C G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:45293249C>G ENST00000447098.2 - 15 2207 c.2196G>C c.(2194-2196)agG>agC p.R732S PTCH2_ENST00000372192.3_Missense_Mutation_p.R732S NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 732 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GGGAGAAGTACCTGAGCTGGG 0.637000 Basal Cell Nevus syndrome 9 63 0 0 0.000442599 0 0 TTLL8 164714 broad.mit.edu 37 22 50470327 50470327 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:50470327C>T ENST00000266182.6 - 11 1494 c.1495G>A c.(1495-1497)Gag>Aag p.E499K TTLL8_ENST00000440475.1_Missense_Mutation_p.E479K tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TTGCGAGGCTCCACGTGGTCC 0.637000 6 40 0 0 0.00116845 0 0 MAP1B 4131 broad.mit.edu 37 5 71493969 71493969 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:71493969A>G ENST00000296755.7 + 5 5085 c.4787A>G c.(4786-4788)cAa>cGa p.Q1596R NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1596 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCTGTTGTGCAAACACCTACC 0.468000 15 94 0 0 0.000422831 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110455268 110455268 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:110455268T>C ENST00000378402.5 + 36 4591 c.4487T>C c.(4486-4488)aTt>aCt p.I1496T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1496 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) CAAGGAGTCATTAATGTTTTA 0.418000 HNSCC(38;0.096) 36 210 0 0 0.00111076 0 0 KDM5A 5927 broad.mit.edu 37 12 464365 464365 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:464365T>C ENST00000399788.2 - 7 1191 c.829A>G c.(829-831)Atg>Gtg p.M277V KDM5A_ENST00000382815.4_Missense_Mutation_p.M277V NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 277 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CTCATTTGCATGTTAAATGCG 0.368000 T NUP98 AML 10 37 0 0 0.00185496 0 0 TEP1 7011 broad.mit.edu 37 14 20845894 20845894 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr14:20845894A>T ENST00000262715.5 - 40 5780 c.5740T>A c.(5740-5742)Tct>Act p.S1914T TEP1_ENST00000556935.1_Missense_Mutation_p.S1806T|TEP1_ENST00000545983.1_Missense_Mutation_p.S252T NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1914 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CGACCCAGAGACCCTGACCAC 0.587000 12 46 0 0 0.000978159 0 0 SLC19A2 10560 broad.mit.edu 37 1 169439294 169439294 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:169439294A>G ENST00000236137.5 - 3 1174 c.938T>C c.(937-939)gTg>gCg p.V313A SLC19A2_ENST00000367804.3_Missense_Mutation_p.V112A|SLC19A2_ENST00000367802.3_Missense_Mutation_p.V275A NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 313 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) TGTGTAGTTCACAACTTGAAA 0.498000 11 114 0 0 0.00136819 0 0 IFIT3 3437 broad.mit.edu 37 10 91098946 91098946 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:91098946T>C ENST00000371818.4 + 2 714 c.534T>C c.(532-534)atT>atC p.I178I LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Silent_p.I178I|LIPA_ENST00000487618.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 178 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 GACTGGCAATTGCGATGTACC 0.458000 15 91 0 0 0.00074312 0 0 FRYL 285527 broad.mit.edu 37 4 48523117 48523117 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:48523117T>C ENST00000358350.4 - 55 8241 c.7637A>G c.(7636-7638)gAg>gGg p.E2546G FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2546G|FRYL_ENST00000537810.1_Missense_Mutation_p.E2546G|FRYL_ENST00000264319.7_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 2546 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AGTTGGGGTCTCATCCCTGAT 0.502000 7 69 0 0 0.00198382 0 0 OR5M8 219484 broad.mit.edu 37 11 56258800 56258800 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:56258800A>T ENST00000327216.2 - 1 71 c.47T>A c.(46-48)cTg>cAg p.L16Q NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) GCGACTGGTCAGTCCCAGGAG 0.448000 17 74 0 0 0.000422831 0 0 SLC46A3 283537 broad.mit.edu 37 13 29287503 29287503 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:29287503G>A ENST00000266943.6 - 3 743 c.374C>T c.(373-375)gCc>gTc p.A125V SLC46A3_ENST00000380814.4_Missense_Mutation_p.A125V NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 125 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) GAATGGAAAGGCAAAATAGCA 0.413000 6 22 0 0 0.00116845 0 0 FLG 2312 broad.mit.edu 37 1 152282261 152282261 + Missense_Mutation SNP G G T rs145738429 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:152282261G>T ENST00000368799.1 - 3 5136 c.5101C>A c.(5101-5103)Caa>Aaa p.Q1701K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1701 Ser-rich. 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) GATGAATCTTGTCTGCGCCCA 0.562000 Ichthyosis 16 439 6.31663e-08 2.3191e-07 0.000308642 1 0 SMC2 10592 broad.mit.edu 37 9 106891994 106891994 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:106891994T>C ENST00000286398.7 + 21 3147 c.2859T>C c.(2857-2859)agT>agC p.S953S SMC2_ENST00000374787.3_Silent_p.S953S|SMC2_ENST00000303219.8_Silent_p.S953S|SMC2_ENST00000374793.3_Silent_p.S953S NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 953 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AACCCAATAGTGCCTATGATT 0.378000 5 124 0 0 0.00116845 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474320 78474320 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr15:78474320G>A ENST00000258873.4 - 8 1267 c.1062C>T c.(1060-1062)gaC>gaT p.D354D ACSBG1_ENST00000541759.1_Silent_p.D112D|ACSBG1_ENST00000560817.1_Silent_p.D112D NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 354 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CCTTCAGGGCGTCGGGTTCGG 0.607000 22 33 0 0 0.00278032 0 0 GNAT3 346562 broad.mit.edu 37 7 80091818 80091818 + Splice_Site SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:80091818C>T ENST00000398291.3 - 6 813 c.720_splice c.e6+1 p.V240_splice CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 240 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 TTAGACTTACCACTTCTTCGT 0.398000 14 93 0 0 0.000308642 0 0 ZBTB3 79842 broad.mit.edu 37 11 62521078 62521078 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:62521078T>A ENST00000394807.3 - 2 334 c.209A>T c.(208-210)cAg>cTg p.Q70L NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 70 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 AAGGAAACCCTGGGACCGCTG 0.592000 9 30 0 0 0.000274275 0 0 KRT1 3848 broad.mit.edu 37 12 53069124 53069124 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:53069124G>A ENST00000252244.3 - 9 1846 c.1788C>T c.(1786-1788)ggC>ggT p.G596G NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 596 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 cagagctgccgccgccgccgc 0.711000 9 37 0 0 0.000274275 0 0 ROBO1 6091 broad.mit.edu 37 3 78700882 78700882 + Splice_Site SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:78700882C>T ENST00000436010.2 - 17 3692 c.2695_splice c.e17+1 p.V899_splice ROBO1_ENST00000467549.1_Splice_Site_p.V902_splice|ROBO1_ENST00000495273.1_Splice_Site_p.V902_splice|ROBO1_ENST00000464233.1_Splice_Site_p.V938_splice Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 938 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AAGCTAATACCTTTTCTGATA 0.363000 9 25 0 0 0.000274275 0 0 RASGRP4 115727 broad.mit.edu 37 19 38912750 38912750 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:38912750G>A ENST00000454404.2 - 2 280 c.67C>T c.(67-69)Cgg>Tgg p.R23W RASGRP4_ENST00000587753.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000426920.2_Missense_Mutation_p.R23W|RASGRP4_ENST00000587738.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R23W|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R23W|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R23W NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 23 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGGCGGGGCCGGCCTCGCCCT 0.627000 20 33 0 0 0.00188189 0 0 GPR133 283383 broad.mit.edu 37 12 131593399 131593399 + Missense_Mutation SNP G G A rs141128784 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:131593399G>A ENST00000261654.5 + 18 2577 c.2018G>A c.(2017-2019)cGt>cAt p.R673H GPR133_ENST00000543617.1_Missense_Mutation_p.R192H|GPR133_ENST00000535015.1_Missense_Mutation_p.R705H|GPR133_ENST00000376682.4_Missense_Mutation_p.R359H NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 673 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R673H(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) AGCAAGCACCGTTACTACTat 0.607000 15 68 0 0 0.00244969 0 0 FBN2 2201 broad.mit.edu 37 5 127800510 127800510 + Missense_Mutation SNP G G A rs146941428 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:127800510G>A ENST00000508053.1 - 12 1707 c.733C>T c.(733-735)Cgg>Tgg p.R245W FBN2_ENST00000508989.1_Missense_Mutation_p.R212W|FBN2_ENST00000262464.4_Missense_Mutation_p.R245W P35556 FBN2_HUMAN fibrillin 2 245 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.R245W(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCCCACGCCCGTCCAATGGTG 0.607000 6 75 0 0 0.00198382 0 0 FAM118A 55007 broad.mit.edu 37 22 45728337 45728337 + Missense_Mutation SNP C C G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:45728337C>G ENST00000216214.3 + 7 1517 c.683C>G c.(682-684)tCc>tGc p.S228C FAM118A_ENST00000405548.3_Missense_Mutation_p.S46C|FAM118A_ENST00000441876.2_Missense_Mutation_p.S228C NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 228 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CGCACCAAGTCCTTTCTGTTT 0.463000 13 188 0 0 0.00185496 0 0 ROR2 4920 broad.mit.edu 37 9 94486931 94486931 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:94486931G>A ENST00000375708.3 - 9 2043 c.1845C>T c.(1843-1845)gaC>gaT p.D615D ROR2_ENST00000375715.1_Silent_p.D475D|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 615 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGGTGGCCAGGTCCTTGTGAA 0.597000 16 105 0 0 0.000566183 0 0 GPR132 29933 broad.mit.edu 37 14 105517549 105517549 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr14:105517549C>T ENST00000329797.3 - 4 1836 c.925G>A c.(925-927)Gtg>Atg p.V309M GPR132_ENST00000392585.2_Missense_Mutation_p.V300M|GPR132_ENST00000539291.2_Missense_Mutation_p.V309M NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 309 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GTGGCCAGCACGTAGATAATG 0.577000 34 34 0 0 0.00283554 0 0 HAO1 54363 broad.mit.edu 37 20 7886819 7886819 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr20:7886819C>T ENST00000378789.3 - 4 754 c.703G>A c.(703-705)Gca>Aca p.A235T NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 235 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ATGCCCTTTGCAACAATTGGC 0.383000 26 73 0 0 0.000720815 0 0 POU4F2 5458 broad.mit.edu 37 4 147560466 147560466 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:147560466C>T ENST00000281321.3 + 1 422 c.174C>T c.(172-174)ggC>ggT p.G58G AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 58 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) gtggcggcggcggcggcggcg 0.761000 6 8 0 0 0.00198382 0 0 EPHA5 2044 broad.mit.edu 37 4 66270095 66270095 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:66270095C>T ENST00000273854.3 - 8 2387 c.1787G>A c.(1786-1788)gGa>gAa p.G596E EPHA5_ENST00000354839.4_Missense_Mutation_p.G596E|EPHA5_ENST00000432638.2_Missense_Mutation_p.G433E|EPHA5_ENST00000511294.1_Missense_Mutation_p.G597E NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 596 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CTCTTACCTTCCACTGAGGAG 0.483000 TSP Lung(17;0.13) 5 31 0 0 0.000602214 0 0 DNAH9 1770 broad.mit.edu 37 17 11607668 11607668 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr17:11607668A>G ENST00000262442.3 + 25 5368 c.5300A>G c.(5299-5301)cAg>cGg p.Q1767R DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1767R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1767 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGATTGGCCAGCTCTCCAAG 0.517000 4 68 0 0 0.00024832 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972688 92972688 + Nonsense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:92972688G>A ENST00000523629.1 - 12 2051 c.1597C>T c.(1597-1599)Cga>Tga p.R533* RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.R533*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.R506*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.R496*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.R544*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.R506* NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 533 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R533R(1)|p.R544R(1)|p.R496R(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCACAGTATCGGGCTGTGTTA 0.517000 30 48 0 0 0.001512 0 0 F2R 2149 broad.mit.edu 37 5 76028768 76028768 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:76028768A>G ENST00000319211.4 + 2 983 c.718A>G c.(718-720)Aag>Gag p.K240E NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 240 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) TCTGCTCCTCAAGGAGCAAAC 0.562000 3 101 0 0 6.4e-05 0 0 ZNF202 7753 broad.mit.edu 37 11 123597309 123597309 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:123597309T>A ENST00000336139.4 - 8 1705 c.1343A>T c.(1342-1344)aAg>aTg p.K448M ZNF202_ENST00000529691.1_Missense_Mutation_p.K448M|ZNF202_ENST00000530393.1_Missense_Mutation_p.K448M O95125 ZN202_HUMAN zinc finger protein 202 448 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CGCGTTCATCTTGTGAACCTT 0.468000 18 78 0 0 0.000566183 0 0 C6 729 broad.mit.edu 37 5 41159295 41159295 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:41159295T>C ENST00000263413.3 - 12 2009 c.1745A>G c.(1744-1746)aAg>aGg p.K582R C6_ENST00000337836.5_Missense_Mutation_p.K582R NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 582 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCTCGATCTCTTATAAGTAGC 0.507000 85 71 0 0 0.000781405 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927421 92927421 + Missense_Mutation SNP G G T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chrX:92927421G>T ENST00000373079.3 - 1 1146 c.883C>A c.(883-885)Ctt>Att p.L295I NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 295 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 GCTCTTTTAAGATCTACACTG 0.433000 32 19 7.16923e-06 2.55902e-05 0.0024448 1 0 OSBP 5007 broad.mit.edu 37 11 59361545 59361545 + Missense_Mutation SNP G G T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:59361545G>T ENST00000263847.1 - 8 1974 c.1495C>A c.(1495-1497)Ctt>Att p.L499I NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 499 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GTCTCCCCAAGCAGTGGGTTG 0.488000 4 28 0.000602214 0.00212012 0.000602214 1 0 NPY2R 4887 broad.mit.edu 37 4 156136041 156136041 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:156136041C>T ENST00000329476.3 + 2 1439 c.950C>T c.(949-951)tCc>tTc p.S317F NPY2R_ENST00000506608.1_Missense_Mutation_p.S317F NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 317 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GCCATGTGCTCCACTTTTGCC 0.527000 34 57 0 0 0.00058488 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033317 95033317 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr14:95033317G>A ENST00000557004.1 + 3 1081 c.660G>A c.(658-660)gaG>gaA p.E220E SERPINA4_ENST00000555095.1_Silent_p.E220E|SERPINA4_ENST00000298841.5_Silent_p.E220E|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 220 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCCTGTGGGAGAAACCATTCA 0.517000 16 121 0 0 0.000566183 0 0 ZNF300 91975 broad.mit.edu 37 5 150275862 150275862 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:150275862A>G ENST00000446148.2 - 7 1414 c.987T>C c.(985-987)gtT>gtC p.V329V ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Silent_p.V277V|ZNF300_ENST00000274599.5_Silent_p.V313V|ZNF300_ENST00000394226.2_Silent_p.V313V NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTGATGTACAACAAGATGAA 0.388000 12 102 0 0 0.00136819 0 0 CUX1 1523 broad.mit.edu 37 7 101844978 101844978 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:101844978G>A ENST00000360264.3 + 18 2454 c.2434G>A c.(2434-2436)Gat>Aat p.D812N CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.D745N|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.D643N|CUX1_ENST00000292535.7_Missense_Mutation_p.D801N|CUX1_ENST00000549414.2_Missense_Mutation_p.D779N|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.D699N NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 801 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GGGAGCAGCCGATTGTGCACA 0.672000 19 23 0 0 0.00074312 0 0 HOMER1 9456 broad.mit.edu 37 5 78752757 78752757 + Silent SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:78752757A>G ENST00000334082.6 - 2 1532 c.90T>C c.(88-90)caT>caC p.H30H HOMER1_ENST00000508576.1_Silent_p.H30H|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Silent_p.H30H NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 30 WH1. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) CAGTAACTGCATGCTTGCTGG 0.418000 11 128 0 0 0.00185496 0 0 IDUA 3425 broad.mit.edu 37 4 995285 995285 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:995285T>C ENST00000453894.1 + 4 470 c.382T>C c.(382-384)Tgg>Cgg p.W128R IDUA_ENST00000247933.4_Missense_Mutation_p.W175R|IDUA_ENST00000514224.1_Missense_Mutation_p.W43R P35475 IDUA_HUMAN iduronidase, alpha-L- 175 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) TGTTTCCAAGTGGAACTTCGA 0.602000 20 80 0 0 0.00188189 0 0 OMD 4958 broad.mit.edu 37 9 95179448 95179448 + Missense_Mutation SNP C C G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:95179448C>G ENST00000375550.4 - 2 668 c.393G>C c.(391-393)aaG>aaC p.K131N CENPP_ENST00000375587.3_Intron NM_005014.2 NP_005005.1 Q99983 OMD_HUMAN osteomodulin 131 cell adhesion proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2) 16 CATAATCAATCTTTTGAGATT 0.328000 T USP6 aneurysmal bone cysts 6 109 0 0 0.000157383 0 0 TAOK3 51347 broad.mit.edu 37 12 118610455 118610455 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:118610455T>C ENST00000392533.3 - 17 2196 c.1706A>G c.(1705-1707)gAg>gGg p.E569G TAOK3_ENST00000537952.1_Missense_Mutation_p.E109G|TAOK3_ENST00000419821.2_Missense_Mutation_p.E569G NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 569 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTATGGTCCTCATTCATTTC 0.418000 3 138 0 0 6.4e-05 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208448 140208448 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:140208448G>A ENST00000529310.1 + 1 886 c.772G>A c.(772-774)Gga>Aga p.G258R PCDHA6_ENST00000527624.1_Missense_Mutation_p.G258R|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGACAACGGAACAACAGT 0.423000 11 54 0 0 0.000673444 0 0 SI 6476 broad.mit.edu 37 3 164758751 164758751 + Silent SNP T T G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:164758751T>G ENST00000264382.3 - 18 2198 c.2136A>C c.(2134-2136)acA>acC p.T712T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 712 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTCTTGCTACTGTTTCTCCAA 0.338000 HNSCC(35;0.089) 6 129 0 0 0.000157383 0 0 SLC19A3 80704 broad.mit.edu 37 2 228552279 228552279 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:228552279T>C ENST00000258403.3 - 6 1396 c.1325A>G c.(1324-1326)tAt>tGt p.Y442C SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y438C|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 442 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) ATAGCTCCCATAAACTAAAAA 0.348000 9 31 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179404536 179404536 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:179404536T>C ENST00000589042.1 - 352 98480 c.98256A>G c.(98254-98256)gcA>gcG p.A32752A TTN_ENST00000460472.2_Silent_p.A23687A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Silent_p.A31111A|TTN_ENST00000342175.6_Silent_p.A23879A|TTN_ENST00000359218.5_Silent_p.A23812A|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.A30184A|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31111 Ig-like 145. 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) TTTCAGATGTTGCAATCATGG 0.443000 4 72 0 0 0.00024832 0 0 ATP5G2 517 broad.mit.edu 37 12 54063126 54063126 + Splice_Site SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:54063126C>T ENST00000338662.5 - 4 1371 c.e4-1 ATP5G2_ENST00000549164.1_Splice_Site|ATP5G2_ENST00000602871.1_Splice_Site|ATP5G2_ENST00000394349.3_Splice_Site NM_001002031.2 NP_001002031.1 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 TGCTGAGGCTCTGTGAAAAAG 0.473000 3 22 0 0 6.4e-05 0 0 C10orf120 399814 broad.mit.edu 37 10 124459210 124459210 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:124459210T>C ENST00000329446.4 - 1 128 c.97A>G c.(97-99)Ata>Gta p.I33V NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 33 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GTATTAAATATTCTAACTGGC 0.433000 15 58 0 0 0.000308642 0 0 FOXO1 2308 broad.mit.edu 37 13 41133857 41133857 + Missense_Mutation SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:41133857C>T ENST00000379561.5 - 2 2155 c.1771G>A c.(1771-1773)Ggc>Agc p.G591S NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 591 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TGGAGAAGGCCCATTCTGCCA 0.547000 22 71 0 0 0.00188189 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151121855 151121855 + Splice_Site SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:151121855G>A ENST00000367328.1 + 7 942 c.629_splice c.e7-1 p.R210_splice PLEKHG1_ENST00000358517.2_Splice_Site_p.R210_splice NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 210 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CTTCCTGCAGGTCCGTGGCTG 0.428000 6 55 0 0 0.00116845 0 0 TCTN1 79600 broad.mit.edu 37 12 111078916 111078916 + Missense_Mutation SNP G G C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:111078916G>C ENST00000551590.1 + 9 1222 c.1066G>C c.(1066-1068)Gtc>Ctc p.V356L TCTN1_ENST00000397659.4_Missense_Mutation_p.V356L|TCTN1_ENST00000397655.3_Missense_Mutation_p.V342L|TCTN1_ENST00000377654.3_Missense_Mutation_p.V178L|HVCN1_ENST00000548312.1_Intron Q2MV58 TECT1_HUMAN tectonic family member 1 356 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 CAGCGTAGTGGTCCCACTGCA 0.378000 16 56 0 0 0.000566183 0 0 CDC45 8318 broad.mit.edu 37 22 19467525 19467525 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr22:19467525G>A ENST00000407835.1 + 2 290 c.34G>A c.(34-36)Gag>Aag p.E12K CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Missense_Mutation_p.E12K|CDC45_ENST00000404724.3_Missense_Mutation_p.E12K|CDC45_ENST00000263201.1_Missense_Mutation_p.E12K O75419 CDC45_HUMAN cell division cycle 45 12 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 AGAGTTCTACGAGGTGGTCCA 0.692000 6 149 0 0 0.000157383 0 0 KCTD3 51133 broad.mit.edu 37 1 215777531 215777531 + Missense_Mutation SNP T T G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:215777531T>G ENST00000259154.4 + 13 1490 c.1196T>G c.(1195-1197)gTg>gGg p.V399G NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 399 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GCAGTACGAGTGATTGTACAA 0.453000 5 68 0 0 0.000602214 0 0 ZNF227 7770 broad.mit.edu 37 19 44739552 44739552 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:44739552T>C ENST00000313040.7 + 6 1174 c.969T>C c.(967-969)tcT>tcC p.S323S ZNF227_ENST00000391961.2_Silent_p.S272S|ZNF227_ENST00000589005.1_Silent_p.S272S NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) GAGAGAAGTCTTATAGATGCG 0.403000 7 72 0 0 0.000157383 0 0 PTPRO 5800 broad.mit.edu 37 12 15733638 15733638 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:15733638A>G ENST00000281171.4 + 22 3335 c.3005A>G c.(3004-3006)aAc>aGc p.N1002S PTPRO_ENST00000544244.1_Missense_Mutation_p.N163S|PTPRO_ENST00000542557.1_Missense_Mutation_p.N163S|PTPRO_ENST00000348962.2_Missense_Mutation_p.N974S|PTPRO_ENST00000442921.2_Missense_Mutation_p.N191S|PTPRO_ENST00000445537.2_Missense_Mutation_p.N191S NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1002 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CAGGGATACAACTCACCCCAG 0.438000 10 30 0 0 0.000673444 0 0 GPR3 2827 broad.mit.edu 37 1 27721213 27721213 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:27721213T>C ENST00000374024.3 + 2 1010 c.911T>C c.(910-912)gTg>gCg p.V304A NM_005281.2 NP_005272.1 P46089 GPR3_HUMAN G protein-coupled receptor 3 304 activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane endometrium(3)|lung(3)|ovary(1)|skin(1) 8 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) AACCAGGATGTGCAGAAAGTG 0.547000 16 226 0 0 0.000422831 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361565 105361565 + Missense_Mutation SNP A A T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:105361565A>T ENST00000297581.2 + 2 834 c.785A>T c.(784-786)cAg>cTg p.Q262L DCSTAMP_ENST00000517991.1_Missense_Mutation_p.Q262L|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 262 osteoclast differentiation cell surface|integral to membrane|plasma membrane AGACATCAACAGAGGCCCTGT 0.468000 13 93 0 0 0.00136819 0 0 DNAH5 1767 broad.mit.edu 37 5 13841092 13841092 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:13841092G>A ENST00000265104.4 - 34 5736 c.5632C>T c.(5632-5634)Ctg>Ttg p.L1878L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1878 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTGGAACTCAGATCCCTCGTG 0.398000 Kartagener syndrome 14 194 0 0 0.000422831 0 0 CYTH3 9265 broad.mit.edu 37 7 6213353 6213353 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr7:6213353T>C ENST00000350796.3 - 6 516 c.380A>G c.(379-381)aAt>aGt p.N127S NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 127 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 AACTTTAATATTAAATTCATC 0.358000 21 30 0 0 0.00229938 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148679114 148679114 + Missense_Mutation SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:148679114T>A ENST00000296721.4 + 2 157 c.59T>A c.(58-60)cTc>cAc p.L20H AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L20H|AFAP1L1_ENST00000522492.1_3'UTR NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 20 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTCAGCCTCCTGGACCAC 0.642000 8 35 0 0 0.000274275 0 0 PDCD1 5133 broad.mit.edu 37 2 242793393 242793393 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr2:242793393G>A ENST00000334409.5 - 5 753 c.684C>T c.(682-684)ttC>ttT p.F228F NM_005018.2 NP_005009.2 Q15116 PDCD1_HUMAN programmed cell death 1 228 apoptosis|humoral immune response|multicellular organismal development|T cell costimulation integral to membrane protein tyrosine phosphatase activity|signal transducer activity endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1) 8 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219) CTCGCCACTGGAAATCCAGCT 0.622000 11 40 0 0 0.00136819 0 0 RYR2 6262 broad.mit.edu 37 1 237993897 237993897 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:237993897A>G ENST00000366574.2 + 103 15040 c.14723A>G c.(14722-14724)cAc>cGc p.H4908R RYR2_ENST00000542537.1_Missense_Mutation_p.H4892R|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.H4914R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4908 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) TTTGAAACCCACACTTTACAG 0.463000 13 134 0 0 0.00185496 0 0 PPFIA3 8541 broad.mit.edu 37 19 49643025 49643025 + Missense_Mutation SNP G G C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:49643025G>C ENST00000334186.4 + 17 2526 c.2177G>C c.(2176-2178)aGa>aCa p.R726T PPFIA3_ENST00000602351.1_Missense_Mutation_p.R726T NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 726 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CGTCTTGAGAGAATGACCCAG 0.652000 3 57 0 0 6.4e-05 0 0 ADCY8 114 broad.mit.edu 37 8 131880107 131880107 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:131880107A>G ENST00000286355.5 - 9 4287 c.2195T>C c.(2194-2196)tTg>tCg p.L732S ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 732 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) AGAAGGAAGCAAACTTTGTAT 0.343000 HNSCC(32;0.087) 5 44 0 0 0.00116845 0 0 DIS3 22894 broad.mit.edu 37 13 73337680 73337680 + Missense_Mutation SNP T T G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:73337680T>G ENST00000377767.4 - 16 2136 c.2036A>C c.(2035-2037)cAt>cCt p.H679P DIS3_ENST00000377780.4_Missense_Mutation_p.H649P|DIS3_ENST00000545453.1_Missense_Mutation_p.H517P NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 679 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AAATTCCTCATGAATTTTTTT 0.368000 Multiple Myeloma(4;0.011) 6 32 0 0 0.00198382 0 0 SCN11A 11280 broad.mit.edu 37 3 38936227 38936227 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:38936227T>C ENST00000450244.1 - 15 2830 c.2632A>G c.(2632-2634)Aaa>Gaa p.K878E SCN11A_ENST00000302328.3_Missense_Mutation_p.K878E|SCN11A_ENST00000444237.2_Missense_Mutation_p.K878E|SCN11A_ENST00000456224.3_Missense_Mutation_p.K878E Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 878 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGATGTCTTTGCTTTGTGCA 0.502000 14 83 0 0 0.00185496 0 0 IBTK 25998 broad.mit.edu 37 6 82950154 82950154 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:82950154T>C ENST00000306270.7 - 2 599 c.50A>G c.(49-51)cAt>cGt p.H17R IBTK_ENST00000510291.1_Missense_Mutation_p.H17R|IBTK_ENST00000503631.1_Missense_Mutation_p.H17R NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 17 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) ATCCAAAGCATGCTTCAGGGA 0.408000 13 130 0 0 0.00244969 0 0 SAE1 10055 broad.mit.edu 37 19 47673077 47673077 + Missense_Mutation SNP G G C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:47673077G>C ENST00000413379.3 + 6 732 c.630G>C c.(628-630)aaG>aaC p.K210N SAE1_ENST00000598840.1_Missense_Mutation_p.K129N|SAE1_ENST00000392776.3_Missense_Mutation_p.K210N|SAE1_ENST00000270225.7_Missense_Mutation_p.K210N|SAE1_ENST00000540850.1_Missense_Mutation_p.K36N NM_001145713.1 NP_001139185.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 210 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) TTCCACAGAAGGTGGTCTTCT 0.463000 42 107 0 0 0.00222228 0 0 SPTA1 6708 broad.mit.edu 37 1 158639216 158639216 + Silent SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:158639216T>C ENST00000368148.3 - 14 1995 c.1815A>G c.(1813-1815)gcA>gcG p.A605A SPTA1_ENST00000368147.3_Silent_p.A605A NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 605 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) CTTCATCATCTGCCAACTTTT 0.403000 16 269 0 0 0.000308642 0 0 SCAND3 114821 broad.mit.edu 37 6 28554347 28554347 + Missense_Mutation SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr6:28554347G>A ENST00000452236.2 - 1 765 c.148C>T c.(148-150)Ctc>Ttc p.L50F SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 50 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TGACGAGAGAGTTCCCTGGTA 0.507000 35 58 0 0 0.000692331 0 0 WDR70 55100 broad.mit.edu 37 5 37480070 37480070 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:37480070T>C ENST00000265107.4 + 8 977 c.821T>C c.(820-822)gTg>gCg p.V274A WDR70_ENST00000504564.1_Missense_Mutation_p.V274A|WDR70_ENST00000510699.1_3'UTR NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 274 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) CAGTATATTGTGGACATGGCC 0.338000 4 140 0 0 0.00024832 0 0 MEGF8 1954 broad.mit.edu 37 19 42873017 42873017 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:42873017G>A ENST00000334370.4 + 36 6938 c.6303G>A c.(6301-6303)ggG>ggA p.G2101G MEGF8_ENST00000251268.6_Silent_p.G2168G NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2168 PSI 6. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GGCGTCCGGGGGCCTCCTGGG 0.647000 36 63 0 0 0.00128727 0 0 RYR2 6262 broad.mit.edu 37 1 237659885 237659885 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:237659885T>C ENST00000366574.2 + 20 2353 c.2036T>C c.(2035-2037)gTg>gCg p.V679A RYR2_ENST00000542537.1_Missense_Mutation_p.V663A|RYR2_ENST00000360064.6_Missense_Mutation_p.V677A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 679 B30.2/SPRY 1. 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) GAATTGATGGTGGACCACACA 0.493000 4 79 0 0 0.00024832 0 0 SLC22A24 283238 broad.mit.edu 37 11 62911082 62911082 + Missense_Mutation SNP T T C TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:62911082T>C ENST00000417740.1 - 1 611 c.170A>G c.(169-171)gAc>gGc p.D57G SLC22A10_ENST00000525620.1_Intron|SLC22A24_ENST00000326192.5_Missense_Mutation_p.D57G NM_001136506.2 NP_001129978.2 solute carrier family 22, member 24 kidney(1)|stomach(1) 2 AGACACAGTGTCATTGTCCAG 0.517000 5 21 0 0 0.00198382 0 0 C11orf1 64776 broad.mit.edu 37 11 111753218 111753218 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr11:111753218A>G ENST00000260276.3 + 2 509 c.172A>G c.(172-174)Acc>Gcc p.T58A C11orf1_ENST00000529270.1_Missense_Mutation_p.T98A|C11orf1_ENST00000528125.1_Missense_Mutation_p.T12A|C11orf1_ENST00000530214.1_Missense_Mutation_p.T58A NM_022761.2 NP_073598.1 Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 58 nucleus kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) ATGGCGATGCACCACTAATGA 0.468000 6 40 0 0 0.00198382 0 0 COLEC12 81035 broad.mit.edu 37 18 347016 347016 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr18:347016G>A ENST00000400256.3 - 5 813 c.606C>T c.(604-606)gtC>gtT p.V202V NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 202 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GGTTCATGATGACCACATTAT 0.507000 5 125 0 0 0.000602214 0 0 PLXDC2 84898 broad.mit.edu 37 10 20568717 20568717 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr10:20568717A>G ENST00000377252.3 + 14 2400 c.1559A>G c.(1558-1560)aAa>aGa p.K520R PLXDC2_ENST00000377242.3_Missense_Mutation_p.K471R|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 520 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 GTTGGAGAGAAAGAAGGCTTT 0.423000 3 44 0 0 6.4e-05 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148800393 148800393 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:148800393G>A ENST00000336498.3 + 9 1082 c.843G>A c.(841-843)ccG>ccA p.P281P NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 281 PH. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) GGCCTGCTCCGTTTGGTTCCA 0.388000 9 66 0 0 0.000274275 0 0 TPPP 11076 broad.mit.edu 37 5 665268 665268 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:665268G>A ENST00000360578.5 - 4 730 c.609C>T c.(607-609)tcC>tcT p.S203S CEP72_ENST00000514507.1_Intron NM_007030.2 NP_008961.1 O94811 TPPP_HUMAN tubulin polymerization promoting protein 203 microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) GCTTGTAGCCGGACACATAGC 0.657000 4 151 0 0 0.000602214 0 0 GPR124 25960 broad.mit.edu 37 8 37699033 37699033 + Silent SNP C C T TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr8:37699033C>T ENST00000315215.7 + 16 2889 c.2526C>T c.(2524-2526)tcC>tcT p.S842S GPR124_ENST00000412232.2_Silent_p.S1059S Q96PE1 GP124_HUMAN G protein-coupled receptor 124 1059 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGGCAGCCTCCGCCCTGGGCC 0.711000 5 28 0 0 0.000602214 0 0 DARC 2532 broad.mit.edu 37 1 159175972 159175972 + Missense_Mutation SNP C C A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr1:159175972C>A ENST00000537147.1 + 3 1586 c.743C>A c.(742-744)gCc>gAc p.A248D DARC_ENST00000368121.2_Missense_Mutation_p.A250D|DARC_ENST00000368122.2_Missense_Mutation_p.A248D Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 248 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) ATCCTGTGGGCCTGGTTTATT 0.537000 16 134 2.23348e-06 8.14192e-06 0.000422831 1 0 C12orf36 283422 broad.mit.edu 37 12 13526327 13526327 + Silent SNP C C T rs146660868 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:13526327C>T ENST00000318426.2 - 3 445 c.228G>A c.(226-228)gcG>gcA p.A76A C12orf36_ENST00000527705.2_Silent_p.A76A chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) TGTCTACGAGCGCTCTGACTC 0.473000 12 51 0 0 0.000978159 0 0 ARPP21 10777 broad.mit.edu 37 3 35732405 35732405 + Silent SNP T T A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:35732405T>A ENST00000187397.4 + 9 1050 c.594T>A c.(592-594)ctT>ctA p.L198L ARPP21_ENST00000444190.1_Silent_p.L198L|ARPP21_ENST00000337271.5_Silent_p.L198L|ARPP21_ENST00000417925.1_Silent_p.L198L|ARPP21_ENST00000458225.1_Silent_p.L198L NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 198 R3H. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AGAGGATGCTTGTCCATCGAG 0.383000 7 54 0 0 0.00198382 0 0 PTGER4 5734 broad.mit.edu 37 5 40681848 40681848 + Silent SNP C C G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr5:40681848C>G ENST00000302472.3 + 2 1777 c.753C>G c.(751-753)ctC>ctG p.L251L NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 251 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TGCCGCGCCTCAGCGACTTTC 0.721000 3 58 0 0 6.4e-05 0 0 ZNF671 79891 broad.mit.edu 37 19 58234695 58234695 + Missense_Mutation SNP A A G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr19:58234695A>G ENST00000317398.6 - 2 247 c.152T>C c.(151-153)tTt>tCt p.F51S ZNF671_ENST00000596939.1_Intron|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'UTR NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 51 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CACATCCTCAAAGACCACACA 0.453000 33 128 0 0 0.0024448 0 0 ABI3BP 25890 broad.mit.edu 37 3 100489651 100489651 + Silent SNP G G A TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:100489651G>A ENST00000471714.1 - 61 4759 c.4650C>T c.(4648-4650)acC>acT p.T1550T ABI3BP_ENST00000383691.4_Silent_p.T802T|ABI3BP_ENST00000284322.5_Silent_p.T848T Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 848 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 ACCCTTCCACGGTGACCACAG 0.537000 18 139 0 0 0.00074312 0 0 TIGIT 201633 broad.mit.edu 37 3 114014456 114014456 + Frame_Shift_Del DEL C C - TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr3:114014456delC ENST00000481065.1 + 3 2942 c.327delC c.(325-327)atfs p.I109fs TIGIT_ENST00000486257.1_Frame_Shift_Del_p.I42fs|TIGIT_ENST00000383671.3_Frame_Shift_Del_p.I42fs Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 42 Ig-like V-type. negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GCTCTATCATCTTACAATGTC 0.522 54 142 --- --- --- --- SLC4A4 8671 broad.mit.edu 37 4 72215646 72215646 + Frame_Shift_Del DEL A A - TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr4:72215646delA ENST00000340595.3 + 2 471 c.275delA c.(274-276)gafs p.E92fs SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Frame_Shift_Del_p.E136fs|SLC4A4_ENST00000425175.1_Frame_Shift_Del_p.E136fs|SLC4A4_ENST00000512686.1_Frame_Shift_Del_p.E92fs|SLC4A4_ENST00000351898.6_Frame_Shift_Del_p.E136fs NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 136 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) AAGTTTGAAGAAAAAGTGGAA 0.438 7 96 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797538 117797539 + Frame_Shift_Ins INS - - G rs148674204 byFrequency TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr9:117797538_117797539insG ENST00000350763.4 - 22 6142_6143 c.5731_5732insC c.(5731-5733)ggcfs p.G1911fs TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GACTGATGCCCGGGGGGGTCGC 0.475 74 103 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49440414 49440415 + Frame_Shift_Ins INS - - G TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr12:49440414_49440415insG ENST00000301067.7 - 15 4394_4395 c.4395_4396insC c.(4393-4398)ccagggfs p.G1466fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.K1193fs*25(1) CAGCCGCCCTTGGGGACGGTGA 0.559 15 118 --- --- --- --- KLF5 688 broad.mit.edu 37 13 73636125 73636137 + Frame_Shift_Del DEL TTACCTTACAGTA TTACCTTACAGTA - rs143426593 TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr13:73636125_73636137delTTACCTTACAGTA ENST00000377687.4 + 2 924_936 c.388_400delTTACCTTACAGTA c.(388-402)tcfs p.LPYSI130fs KLF5_ENST00000539231.1_Frame_Shift_Del_p.LPYSI39fs|KLF5_ENST00000477333.1_3'UTR NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 130 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CACTGAAGGGTTACCTTACAGTATCAACATGAA 0.474 22 166 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54305623 54305623 + Frame_Shift_Del DEL G G - TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr15:54305623delG ENST00000545554.1 + 1 523 c.523delG c.(523-525)gcfs p.G175fs UNC13C_ENST00000260323.11_Frame_Shift_Del_p.G175fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.G175fs Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 175 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TACTCTACATGGCTTAAAACT 0.473 26 87 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579579 7579579 + Frame_Shift_Del DEL C C - rs1800370 byFrequency TCGA-CR-7389-01A-11D-2012-08 TCGA-CR-7389-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 37149937-8131-4dbf-916b-d599d203eba7 16849673-1fb6-4726-84df-7804bdc10e3f g.chr17:7579579delC ENST00000420246.2 - 4 240 c.108delG c.(106-108)ccfs p.P36fs TP53_ENST00000269305.4_Frame_Shift_Del_p.P36fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P36fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P36fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 36 Interaction with HRMT1L2.|Transcription activation (acidic). P -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.P36fs*4(3)|p.?(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGCTTGGGACGGCAAGGGGG 0.597 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 76 131 --- --- --- ---