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 GNLY 10578 broad.mit.edu 37 2 85922485 85922485 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:85922485C>A ENST00000409696.3 + 3 332 c.50C>A c.(49-51)gCa>gAa p.A17E GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000263863.4_Missense_Mutation_p.A32E|GNLY_ENST00000524600.1_Missense_Mutation_p.A59E NM_012483.2 NP_036615.2 P22749 GNLY_HUMAN granulysin 32 cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 19 TACGACCTGGCAAGAGCCCAC 0.622000 16 29 1.45105e-14 1.82948e-14 1 1 0 WSCD2 9671 broad.mit.edu 37 12 108589958 108589958 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:108589958G>T ENST00000332082.4 + 3 1167 c.349G>T c.(349-351)Ggg>Tgg p.G117W WSCD2_ENST00000261400.3_Missense_Mutation_p.G117W|WSCD2_ENST00000547525.1_Missense_Mutation_p.G117W|WSCD2_ENST00000549903.1_Missense_Mutation_p.G117W Q2TBF2 WSCD2_HUMAN WSC domain containing 2 117 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 AGCCCTCAAGGGGAGGGTTGT 0.572000 18 30 3.52763e-06 3.85505e-06 1 1 0 ZZEF1 23140 broad.mit.edu 37 17 3912962 3912962 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:3912962C>T ENST00000381638.2 - 53 8793 c.8669G>A c.(8668-8670)gGc>gAc p.G2890D NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2890 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AAGGAGGATGCCGGGCTGCGT 0.627000 4 108 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711766 155711766 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:155711766A>G ENST00000295101.2 + 3 1924 c.1447A>G c.(1447-1449)Agg>Ggg p.R483G NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 483 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) AGGAGCAGCTAGGATGGAAGG 0.413000 9 17 0 0 1 0 0 PIAS2 9063 broad.mit.edu 37 18 44392405 44392405 + Silent SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:44392405T>G ENST00000585916.1 - 14 1856 c.1857A>C c.(1855-1857)tcA>tcC p.S619S NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 619 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 TTTAGTCCAATGAGATGATGT 0.418000 10 7 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 111 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47788587 47788587 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:47788587T>C ENST00000398545.4 - 2 189 c.72A>G c.(70-72)agA>agG p.R24R NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 24 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GAGGCTTGGATCTCTGAAAAC 0.368000 17 20 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121747727 121747727 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:121747727G>C ENST00000452319.1 + 14 4297 c.4237G>C c.(4237-4239)Gca>Cca p.A1413P GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.A1413P P10070 GLI2_HUMAN GLI family zinc finger 2 1413 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TCAGGAAACAGCAGAGGCTGT 0.687000 20 40 0 0 1 0 0 CHST13 166012 broad.mit.edu 37 3 126261332 126261332 + Missense_Mutation SNP C C G rs148180435 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:126261332C>G ENST00000319340.2 + 3 987 c.937C>G c.(937-939)Ccc>Gcc p.P313A NM_152889.2 NP_690849.1 Q8NET6 CHSTD_HUMAN carbohydrate (chondroitin 4) sulfotransferase 13 313 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(114;0.151) GGACATCAGCCCCTTCTACCA 0.697000 4 17 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7205850 7205850 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:7205850A>T ENST00000361972.4 - 21 2657 c.2567T>A c.(2566-2568)cTg>cAg p.L856Q SFMBT2_ENST00000397167.1_Missense_Mutation_p.L856Q NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 856 SAM. regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GGTCAGAAGCAGGAGTGCTTG 0.557000 17 54 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48719886 48719886 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:48719886G>T ENST00000316623.5 - 58 7537 c.7082C>A c.(7081-7083)tCg>tAg p.S2361* NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2361 TB 9. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCAGCATTCCGATTTGGTGAC 0.552000 23 33 1.10513e-12 1.34458e-12 1 1 0 GDNF 2668 broad.mit.edu 37 5 37815944 37815944 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:37815944A>G ENST00000326524.2 - 3 644 c.445T>C c.(445-447)Tgc>Cgc p.C149R GDNF_ENST00000515058.1_Missense_Mutation_p.C123R|GDNF_ENST00000427982.1_Missense_Mutation_p.C166R|GDNF_ENST00000381826.4_Missense_Mutation_p.C140R|GDNF_ENST00000344622.4_Missense_Mutation_p.C123R NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 149 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) GCTGCATCGCAAGAGCCGCTG 0.453000 23 179 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412471 126412471 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:126412471G>T ENST00000394329.3 + 17 14507 c.14494G>T c.(14494-14496)Ggc>Tgc p.G4832C FAT4_ENST00000335110.5_Missense_Mutation_p.G3073C NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4832 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCCAGCGGATGGCATTCCAGC 0.483000 26 79 3.28513e-13 4.02373e-13 1 1 0 ANO7 50636 broad.mit.edu 37 2 242135264 242135264 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:242135264C>T ENST00000402530.3 + 4 575 c.472C>T c.(472-474)Cgt>Tgt p.R158C ANO7_ENST00000274979.8_Intron|ANO7_ENST00000402430.3_Intron NM_001001666.3 NP_001001666.1 Q6IWH7 ANO7_HUMAN anoctamin 7 0 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 AGACCAGGTACGTGGAGGCTG 0.617000 37 59 0 0 1 0 0 RCAN2 10231 broad.mit.edu 37 6 46190881 46190881 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:46190881G>A ENST00000371374.1 - 5 920 c.729C>T c.(727-729)aaC>aaT p.N243N RCAN2_ENST00000405162.1_Silent_p.N243N|RCAN2_ENST00000306764.7_Silent_p.N243N|RCAN2_ENST00000330430.6_Silent_p.N197N NM_001251974.1 NP_001238903.1 Q14206 RCAN2_HUMAN regulator of calcineurin 2 197 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding p.N197K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 AGGCAGCTCAGTTGGACACGG 0.483000 65 100 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51458118 51458118 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:51458118C>G ENST00000335891.5 - 7 968 c.959G>C c.(958-960)aGc>aCc p.S320T Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 769 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CCGGACAGTGCTACTGCGAGA 0.562000 58 39 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877399 24877399 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:24877399G>A ENST00000382554.3 + 3 841 c.523G>A c.(523-525)Gca>Aca p.A175T NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 175 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGACCAGCATGCAGGGGACCT 0.697000 7 11 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277643 152277643 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:152277643C>T ENST00000368799.1 - 3 9754 c.9719G>A c.(9718-9720)cGt>cAt p.R3240H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3240 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R3240H(2) 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) AACAGATCCACGATGGTTTCT 0.587000 Ichthyosis 163 274 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177245544 177245544 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:177245544C>T ENST00000361539.4 + 6 1298 c.986C>T c.(985-987)aCt>aTt p.T329I FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 329 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TCCTGGGCCACTCACAACCGG 0.562000 9 47 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158077 26158077 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:26158077T>C ENST00000325250.1 + 2 1162 c.975T>C c.(973-975)gcT>gcC p.A325A NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 325 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 CTCATACTGCTGCCATGGCAA 0.512000 8 2 0 0 1 0 0 MYEF2 50804 broad.mit.edu 37 15 48443709 48443709 + Nonsense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:48443709C>A ENST00000324324.7 - 13 1546 c.1267G>T c.(1267-1269)Gga>Tga p.G423* MYEF2_ENST00000267836.6_Nonsense_Mutation_p.G423* NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 423 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TGATTTATTCCAATATCACCA 0.383000 160 309 1.1324e-67 1.70796e-67 1 1 0 SLC14A2 8170 broad.mit.edu 37 18 43204711 43204711 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:43204711C>A ENST00000255226.6 + 2 898 c.82C>A c.(82-84)Ccg>Acg p.P28T SLC14A2_ENST00000586448.1_Missense_Mutation_p.P28T NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 28 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTTTACCAGCCCGAGCTGGCC 0.572000 48 25 8.86878e-18 1.16652e-17 1 1 0 GIT1 28964 broad.mit.edu 37 17 27903557 27903557 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:27903557G>A ENST00000225394.3 - 13 1611 c.1363C>T c.(1363-1365)Cgg>Tgg p.R455W GIT1_ENST00000581348.1_Missense_Mutation_p.R464W|GIT1_ENST00000579937.1_Missense_Mutation_p.R455W|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.R464W NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 455 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) TGCAGCCTCCGGAGCTCGTCG 0.622000 37 74 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76024585 76024585 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:76024585C>T ENST00000393004.2 - 5 1184 c.963G>A c.(961-963)ctG>ctA p.L321L FILIP1_ENST00000370020.1_Silent_p.L222L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.L321L Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 321 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTTGATTAGCCAGTTTAGCGT 0.423000 36 89 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54804027 54804027 + Splice_Site SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:54804027A>T ENST00000545554.1 + 23 5456 c.5457_splice c.e23+1 p.E1819_splice UNC13C_ENST00000537900.1_Splice_Site_p.E1817_splice|UNC13C_ENST00000260323.11_Splice_Site_p.E1819_splice Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1819 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) GGAGGGAAGGAGGTGGGTATC 0.353000 7 13 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133252047 133252047 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:133252047C>A ENST00000320574.5 - 12 1206 c.1163G>T c.(1162-1164)gGc>gTc p.G388V POLE_ENST00000535270.1_Missense_Mutation_p.G361V NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 388 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CTTCTGGAAGCCTATCTCCTG 0.612000 DNA polymerases (catalytic subunits) 29 81 2.65835e-16 3.45917e-16 1 1 0 ABCC5 10057 broad.mit.edu 37 3 183699570 183699570 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:183699570G>T ENST00000334444.6 - 8 1332 c.1092C>A c.(1090-1092)taC>taA p.Y364* ABCC5_ENST00000265586.6_Nonsense_Mutation_p.Y364*|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 364 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TAAATTTAATGTAAGTAAGAA 0.408000 42 64 4.16155e-14 5.18418e-14 1 1 0 GLUL 2752 broad.mit.edu 37 1 182355445 182355445 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:182355445C>A ENST00000311223.5 - 5 1317 c.421G>T c.(421-423)Ggg>Tgg p.G141W GLUL_ENST00000331872.6_Missense_Mutation_p.G141W|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.G141W|GLUL_ENST00000417584.2_Missense_Mutation_p.G141W NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 141 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) CCATCTGTCCCCATGAGGGTA 0.527000 43 233 2.26627e-22 3.13924e-22 1 1 0 CRB1 23418 broad.mit.edu 37 1 197403841 197403841 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:197403841G>A ENST00000367397.1 + 5 1849 c.991G>A c.(991-993)Gca>Aca p.A331T CRB1_ENST00000535699.1_Missense_Mutation_p.A926T|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.A950T|CRB1_ENST00000367399.2_Missense_Mutation_p.A838T|CRB1_ENST00000544212.1_Missense_Mutation_p.A431T P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 950 EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATTAGGTATTGCAAATGCTGT 0.294000 44 35 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8492937 8492937 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:8492937G>A ENST00000381196.4 - 24 2935 c.2392C>T c.(2392-2394)Ctc>Ttc p.L798F PTPRD_ENST00000356435.5_Missense_Mutation_p.L798F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L798F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L785F|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.L776F|PTPRD_ENST00000397611.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 798 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTGACGGTGAGGGAGTAGGAA 0.488000 TSP Lung(15;0.13) 52 41 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39832218 39832218 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:39832218G>T ENST00000538976.1 + 4 450 c.268G>T c.(268-270)Gac>Tac p.D90Y DAAM2_ENST00000398904.2_Missense_Mutation_p.D90Y|DAAM2_ENST00000274867.4_Missense_Mutation_p.D90Y|DAAM2_ENST00000494405.1_3'UTR NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 90 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) GGAGCAGGAGGACCCCAACAA 0.582000 6 15 2.0095e-06 2.20591e-06 1 1 0 PRLR 5618 broad.mit.edu 37 5 35065775 35065775 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:35065775A>G ENST00000382002.5 - 10 1711 c.1285T>C c.(1285-1287)Tct>Cct p.S429P PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S328P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S328P|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 429 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTGTGGTAAGAGGATCTGGGG 0.498000 29 231 0 0 1 0 0 GSG1L 146395 broad.mit.edu 37 16 27818821 27818821 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:27818821C>A ENST00000380898.2 - 7 1023 c.474G>T c.(472-474)gaG>gaT p.E158D GSG1L_ENST00000569166.1_Missense_Mutation_p.E158D|GSG1L_ENST00000447459.2_Missense_Mutation_p.E295D|GSG1L_ENST00000380897.3_Missense_Mutation_p.E140D|GSG1L_ENST00000395724.3_Missense_Mutation_p.E244D Q6UXU4 GSG1L_HUMAN GSG1-like 295 integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 CAGGGTATCTCTCGTGGCGGC 0.507000 10 24 3.86212e-05 4.13394e-05 1 1 0 SYNRG 11276 broad.mit.edu 37 17 35932028 35932028 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:35932028T>C ENST00000339208.6 - 9 1100 c.960A>G c.(958-960)aaA>aaG p.K320K SYNRG_ENST00000502449.2_Silent_p.K242K|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Silent_p.K241K|SYNRG_ENST00000345615.4_Silent_p.K242K|SYNRG_ENST00000346661.4_Silent_p.K320K|SYNRG_ENST00000394378.2_Silent_p.K242K|SYNRG_ENST00000591288.1_Silent_p.K242K NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 320 EH. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TGGGATACAGTTTGGCAGTAT 0.403000 44 87 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216219844 216219844 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:216219844A>G ENST00000366943.2 - 32 6640 c.6254T>C c.(6253-6255)aTa>aCa p.I2085T USH2A_ENST00000307340.3_Missense_Mutation_p.I2085T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2085 Fibronectin type-III 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTACTGAGTTATAATACCATT 0.468000 HNSCC(13;0.011) 59 32 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172356363 172356363 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:172356363C>A ENST00000358155.4 + 19 2325 c.2149C>A c.(2149-2151)Cag>Aag p.Q717K DNM3_ENST00000355305.5_Missense_Mutation_p.Q723K|DNM3_ENST00000367731.1_Missense_Mutation_p.Q713K NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 723 GED. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGAGCAGGCTCAGCGCCGGGA 0.507000 22 119 1.9806e-07 2.20738e-07 1 1 0 MRPS9 64965 broad.mit.edu 37 2 105654564 105654564 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:105654564G>A ENST00000258455.3 + 1 124 c.14G>A c.(13-15)tGt>tAt p.C5Y AC010884.1_ENST00000456519.1_RNA NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 5 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GCGGCGCCCTGTGTGTCCTAC 0.677000 7 20 0 0 1 0 0 RNF150 57484 broad.mit.edu 37 4 141832311 141832311 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:141832311G>C ENST00000306799.3 - 6 1712 c.1059C>G c.(1057-1059)atC>atG p.I353M RNF150_ENST00000420921.2_Missense_Mutation_p.I254M|RNF150_ENST00000507500.1_Missense_Mutation_p.I395M|RNF150_ENST00000379512.2_Missense_Mutation_p.I254M|RNF150_ENST00000515673.1_Missense_Mutation_p.I395M NM_020724.1 NP_065775.1 Q9ULK6 RN150_HUMAN ring finger protein 150 395 integral to membrane zinc ion binding breast(1)|large_intestine(10)|lung(7)|ovary(1) 19 all_hematologic(180;0.162) TAGTAGTAAAGATGACGTCTC 0.468000 39 76 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2210791 2210791 + Nonsense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:2210791C>T ENST00000398665.3 + 14 1324 c.1288C>T c.(1288-1290)Caa>Taa p.Q430* NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 430 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding p.Q430*(1) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGAAGAACCAAACTGCACT 0.657000 32 84 0 0 1 0 0 ANGEL2 90806 broad.mit.edu 37 1 213181682 213181682 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:213181682G>A ENST00000366962.3 - 3 666 c.512C>T c.(511-513)tCc>tTc p.S171F ANGEL2_ENST00000544555.1_Missense_Mutation_p.S2F|ANGEL2_ENST00000360506.2_Missense_Mutation_p.S2F|ANGEL2_ENST00000535388.1_Missense_Mutation_p.S2F|ANGEL2_ENST00000540642.1_Missense_Mutation_p.S45F NM_144567.3 NP_653168.2 Q5VTE6 ANGE2_HUMAN angel homolog 2 (Drosophila) 171 central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185) TATATTATAGGACATCACTGA 0.363000 16 98 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91835659 91835659 + Silent SNP C C A rs144869683 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:91835659C>A ENST00000394232.1 + 13 2399 c.1929C>A c.(1927-1929)acC>acA p.T643T SV2B_ENST00000545111.2_Silent_p.T492T|SV2B_ENST00000330276.4_Silent_p.T643T NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 643 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) TGGGAAACACCATCTTTGCTT 0.483000 22 57 3.8784e-16 5.01104e-16 1 1 0 POTEF 728378 broad.mit.edu 37 2 130877898 130877898 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:130877898C>A ENST00000357462.5 - 1 284 c.191G>T c.(190-192)tGg>tTg p.W64L POTEF_ENST00000409914.2_Missense_Mutation_p.W64L|POTEF_ENST00000360967.5_Missense_Mutation_p.W64L|POTEF_ENST00000361163.4_Missense_Mutation_p.W64L A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 64 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GTGGCGGCACCACTTGCCCAT 0.597000 165 264 1.31598e-77 1.98895e-77 1 1 0 CPNE5 57699 broad.mit.edu 37 6 36742828 36742828 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:36742828T>A ENST00000244751.2 - 10 1271 c.647A>T c.(646-648)cAc>cTc p.H216L NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 216 C2 2. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CTCGGTCTTGTGGCAAATGGT 0.537000 10 29 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58430816 58430816 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:58430816T>A ENST00000219919.4 + 1 422 c.52T>A c.(52-54)Ttg>Atg p.L18M ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.L18M|AQP9_ENST00000559443.1_3'UTR|AQP9_ENST00000558772.1_Intron NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 18 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) GAGACTGGTCTTGAAGAGCAG 0.458000 23 38 0 0 1 0 0 CPA5 93979 broad.mit.edu 37 7 130008366 130008366 + Nonsense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:130008366C>A ENST00000431780.2 + 11 1599 c.1154C>A c.(1153-1155)tCa>tAa p.S385* CPA5_ENST00000485477.1_Silent_p.I413I|CPA5_ENST00000466363.2_Silent_p.I413I|CPA5_ENST00000474905.1_Silent_p.I413I|CPA5_ENST00000355388.3_Silent_p.I413I|CPA5_ENST00000461828.1_Silent_p.I413I|CPA5_ENST00000393213.3_Silent_p.I413I NM_001127442.1 NP_001120914.1 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 0 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) CCACACAGATCATCCCCACGG 0.607000 44 135 1.57945e-13 1.94435e-13 1 1 0 ZNF257 113835 broad.mit.edu 37 19 22255703 22255703 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:22255703G>T ENST00000594947.1 + 2 240 c.96G>T c.(94-96)gtG>gtT p.V32V ZNF257_ENST00000600162.1_Silent_p.V32V NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) ATAGGGATGTGATGTTAGAGA 0.388000 72 126 6.09464e-36 9.02451e-36 1 1 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000028 46000028 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr21:46000028G>T ENST00000400372.1 - 1 453 c.428C>A c.(427-429)cCc>cAc p.P143H TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 143 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 AGAACAGGTGGGCACACAGCA 0.612000 111 230 4.98428e-49 7.44075e-49 1 1 0 ASTN2 23245 broad.mit.edu 37 9 119903718 119903718 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:119903718A>G ENST00000313400.4 - 4 1155 c.1055T>C c.(1054-1056)aTg>aCg p.M352T ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.M352T|ASTN2_ENST00000361209.2_Intron O75129 ASTN2_HUMAN astrotactin 2 352 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GAACTTCTGCATCAGGGACTC 0.592000 23 17 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64637527 64637527 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:64637527T>G ENST00000413366.3 + 4 369 c.343T>G c.(343-345)Tgc>Ggc p.C115G NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 115 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) CCCCACCTTCTGCGATCACTG 0.473000 90 113 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129950685 129950685 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:129950685G>T ENST00000222482.4 + 9 880 c.852G>T c.(850-852)tcG>tcT p.S284S CPA4_ENST00000445470.2_Silent_p.S251S|CPA4_ENST00000493259.1_Silent_p.S180S NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 284 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) ACGCCAATTCGGAAGTGGAGG 0.493000 31 100 7.68411e-24 1.0705e-23 1 1 0 CPO 130749 broad.mit.edu 37 2 207833012 207833012 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:207833012A>G ENST00000272852.3 + 8 849 c.803A>G c.(802-804)aAt>aGt p.N268S NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 268 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) AAGGCAGCAAATGCATTGAAA 0.363000 16 33 0 0 1 0 0 CMTM7 112616 broad.mit.edu 37 3 32483410 32483410 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:32483410G>C ENST00000334983.5 + 2 474 c.238G>C c.(238-240)Gtc>Ctc p.V80L CMTM7_ENST00000349718.4_Missense_Mutation_p.V80L NM_138410.2 NP_612419.1 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 7 80 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(2) 4 CTTTGAAGTGGTCACCATTTG 0.532000 71 45 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152644659 152644659 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:152644659G>C ENST00000367255.5 - 82 16472 c.15871C>G c.(15871-15873)Cct>Gct p.P5291A SYNE1_ENST00000448038.1_Missense_Mutation_p.P5220A|SYNE1_ENST00000341594.5_Missense_Mutation_p.P4984A|SYNE1_ENST00000265368.4_Missense_Mutation_p.P5291A|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5220A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5291 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATGAGCGGAGGCTCTTCCCCA 0.557000 HNSCC(10;0.0054) 24 74 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39659680 39659680 + Silent SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:39659680C>G ENST00000246635.3 - 3 640 c.594G>C c.(592-594)ctG>ctC p.L198L KRT13_ENST00000587544.1_Silent_p.L198L|KRT13_ENST00000336861.3_Silent_p.L198L NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 198 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) GGCGCAGGGCCAGCTCATTCT 0.493000 36 56 0 0 1 0 0 ENO2 2026 broad.mit.edu 37 12 7031310 7031310 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:7031310G>C ENST00000535366.1 + 9 1785 c.1159G>C c.(1159-1161)Ggg>Cgg p.G387R ENO2_ENST00000544774.1_Missense_Mutation_p.G344R|ENO2_ENST00000545045.2_Missense_Mutation_p.G268R|ENO2_ENST00000538763.1_Missense_Mutation_p.G344R|ENO2_ENST00000229277.1_Missense_Mutation_p.G387R|ENO2_ENST00000534977.1_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.G387R P09104 ENOG_HUMAN enolase 2 (gamma, neuronal) 387 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 CCTGGTGGTGGGGCTGTGCAC 0.572000 19 77 0 0 1 0 0 ACTA2 59 broad.mit.edu 37 10 90703570 90703570 + Missense_Mutation SNP C C T rs112602953 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:90703570C>T ENST00000458208.1 - 4 827 c.353G>A c.(352-354)cGg>cAg p.R118Q STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.R118Q|ACTA2_ENST00000480297.1_5'UTR NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 118 R -> Q (in AAT6). response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) CATTTTCTCCCGGTTGGCCTT 0.537000 30 28 0 0 1 0 0 CCDC140 151278 broad.mit.edu 37 2 223168728 223168728 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:223168728G>T ENST00000295226.1 + 2 491 c.107G>T c.(106-108)cGc>cTc p.R36L NM_153038.1 NP_694583.1 Q96MF4 CC140_HUMAN coiled-coil domain containing 140 36 p.R36H(1) endometrium(4)|large_intestine(1)|prostate(1) 6 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCAACACCCGCGTTCCTCGA 0.567000 19 19 3.57192e-18 4.74092e-18 1 1 0 POU2F3 25833 broad.mit.edu 37 11 120180296 120180296 + Splice_Site SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:120180296G>T ENST00000260264.4 + 10 1108 c.e10+1 POU2F3_ENST00000543440.2_Splice_Site NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) CTCCCGGCTGGTGAGTGGCCA 0.577000 23 32 7.92952e-12 9.55206e-12 1 1 0 LPPR5 163404 broad.mit.edu 37 1 99418770 99418770 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:99418770A>G ENST00000370188.3 - 3 837 c.477T>C c.(475-477)taT>taC p.Y159Y LPPR5_ENST00000263177.4_Silent_p.Y159Y NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 159 integral to membrane hydrolase activity CAAGTGCTGTATAATTGGGCT 0.448000 23 44 0 0 1 0 0 LNPEP 4012 broad.mit.edu 37 5 96339245 96339245 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:96339245A>T ENST00000231368.5 + 9 2472 c.1780A>T c.(1780-1782)Aat>Tat p.N594Y LNPEP_ENST00000395770.3_Missense_Mutation_p.N580Y NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 594 N -> I (in dbSNP:rs12520455). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GGATAGTTTTAATGAGGTAAG 0.353000 29 24 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85992184 85992184 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:85992184A>G ENST00000372105.3 - 4 1392 c.1371T>C c.(1369-1371)acT>acC p.T457T NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 457 Fibronectin type-III. integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 CACTGAAGGCAGTTGTGTTCT 0.592000 13 10 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66925212 66925212 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:66925212G>T ENST00000269080.2 - 8 1240 c.1103C>A c.(1102-1104)gCc>gAc p.A368D ABCA8_ENST00000430352.2_Missense_Mutation_p.A368D|ABCA8_ENST00000586539.1_Missense_Mutation_p.A368D NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 368 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AAGCATGAAGGCAAAGGGACT 0.463000 21 41 3.62473e-10 4.22018e-10 1 1 0 UTRN 7402 broad.mit.edu 37 6 144837953 144837953 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:144837953G>T ENST00000367545.3 + 38 5410 c.5410G>T c.(5410-5412)Gag>Tag p.E1804* NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1804 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTAGATGGATGAGGAGAGTGC 0.328000 5 9 0.000602214 0.000632542 1 1 0 ZNF620 253639 broad.mit.edu 37 3 40557746 40557746 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:40557746G>A ENST00000314529.6 + 5 810 c.661G>A c.(661-663)Gaa>Aaa p.E221K ZNF620_ENST00000418905.1_Missense_Mutation_p.E107K NM_175888.3 NP_787084.1 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TCACACTGGTGAAAAGTCTTT 0.358000 48 23 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57756760 57756760 + Silent SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:57756760T>G ENST00000269122.3 + 18 3073 c.2799T>G c.(2797-2799)gtT>gtG p.V933V CLTC_ENST00000393043.1_Silent_p.V933V|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 933 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTCTTTAGGTTTGCAATGAGA 0.363000 T """ALK, TFE3""" """ALCL, renal """ 19 31 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44049301 44049301 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:44049301A>T ENST00000347967.5 + 3 532 c.17A>T c.(16-18)cAa>cTa p.Q6L MAPT_ENST00000571987.1_Silent_p.P70P|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Silent_p.P70P|MAPT_ENST00000574436.1_Silent_p.P70P|MAPT_ENST00000262410.5_Silent_p.P70P|MAPT_ENST00000340799.5_Silent_p.P70P|MAPT_ENST00000535772.1_Silent_p.P70P|MAPT_ENST00000420682.2_Silent_p.P70P|MAPT_ENST00000431008.3_Silent_p.P70P|MAPT_ENST00000415613.2_Silent_p.P70P|MAPT_ENST00000344290.5_Silent_p.P70P|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000570299.1_Intron P10636 TAU_HUMAN microtubule-associated protein tau 35 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AGAGCACTCCAACAGCGGAAG 0.617000 15 44 0 0 1 0 0 C2orf76 130355 broad.mit.edu 37 2 120097421 120097421 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:120097421T>C ENST00000409466.2 - 3 636 c.115A>G c.(115-117)Atc>Gtc p.I39V C2orf76_ENST00000334816.7_Missense_Mutation_p.I39V|C2orf76_ENST00000409523.1_Missense_Mutation_p.I39V|C2orf76_ENST00000498049.1_5'UTR|C2orf76_ENST00000409877.1_Missense_Mutation_p.I39V Q3KRA6 CB076_HUMAN chromosome 2 open reading frame 76 39 large_intestine(1)|lung(3)|pancreas(1) 5 AGAAATACGATAAATTCCTTT 0.338000 20 42 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023725 18023725 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:18023725G>T ENST00000205890.5 + 2 1949 c.1611G>T c.(1609-1611)ccG>ccT p.P537P NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 537 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCCTCACGCCGCGCCAGCGCA 0.721000 22 21 1.64113e-05 1.76961e-05 1 1 0 ITPR1 3708 broad.mit.edu 37 3 4774803 4774803 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:4774803G>A ENST00000354582.6 + 42 5557 c.5207G>A c.(5206-5208)cGt>cAt p.R1736H ITPR1_ENST00000302640.8_Missense_Mutation_p.R1736H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1688H|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1703H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1703H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1736H Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1751 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTGGTCAACCGTTACTATGGA 0.507000 19 11 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632985 32632985 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:32632985G>T ENST00000242310.4 - 1 2682 c.2593C>A c.(2593-2595)Cta>Ata p.L865I NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 865 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAGAGCTTTAGCCTCTTCCGG 0.463000 60 120 2.73361e-28 3.87483e-28 1 1 0 FAAH2 158584 broad.mit.edu 37 X 57337061 57337061 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:57337061A>T ENST00000374900.4 + 3 431 c.311A>T c.(310-312)gAt>gTt p.D104V NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 104 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CATGCTGTAGATCAAAAGCTT 0.408000 HNSCC(52;0.14) 18 10 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75114977 75114977 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:75114977G>T ENST00000326665.5 - 2 264 c.46C>A c.(46-48)Ctt>Att p.L16I NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 16 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTATCCATAAGGCTATTATAT 0.363000 14 49 6.31663e-08 7.10499e-08 1 1 0 PDZD2 23037 broad.mit.edu 37 5 32088117 32088117 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:32088117C>A ENST00000438447.1 + 20 4951 c.4563C>A c.(4561-4563)agC>agA p.S1521R PDZD2_ENST00000282493.3_Missense_Mutation_p.S1521R O15018 PDZD2_HUMAN PDZ domain containing 2 1521 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 ACTTTCTGAGCAACTACTCTA 0.488000 37 19 2.87052e-16 3.72861e-16 1 1 0 IGKV3D-20 28874 broad.mit.edu 37 2 90078085 90078085 + RNA SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:90078085T>A ENST00000390270.2 + 0 219 AGAGCCACCCTCTCCTGCGGG 0.537000 6 230 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138964104 138964104 + Nonsense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:138964104A>T ENST00000288561.8 + 13 2065 c.1816A>T c.(1816-1818)Aag>Tag p.K606* UBN2_ENST00000473989.2_Nonsense_Mutation_p.K689* NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 689 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 ACCCAAAGTAAAGGTAAGTAC 0.308000 7 35 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52660719 52660719 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:52660719C>A ENST00000322146.8 - 5 738 c.217G>T c.(217-219)Gtg>Ttg p.V73L ZNF836_ENST00000597252.1_Missense_Mutation_p.V73L|CTC-471J1.8_ENST00000594362.1_RNA NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 73 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TCCAGCGTCACTGTTTGGCAT 0.358000 11 18 1.58986e-06 1.74789e-06 1 1 0 NHS 4810 broad.mit.edu 37 X 17743958 17743958 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:17743958G>T ENST00000380060.3 + 6 2007 c.1669G>T c.(1669-1671)Gag>Tag p.E557* NHS_ENST00000398097.3_Nonsense_Mutation_p.E401* NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 557 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CAAATTAAGTGAGAGGGGAAG 0.577000 44 20 4.67007e-22 6.43235e-22 1 1 0 TRAV8-7 28679 broad.mit.edu 37 14 22600966 22600966 + RNA SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:22600966C>T ENST00000390456.3 + 0 311 AGTGATGCTGCTGAGTACTTC 0.502000 24 22 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2216475 2216475 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:2216475A>G ENST00000398665.3 + 20 2155 c.2119A>G c.(2119-2121)Atg>Gtg p.M707V NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 707 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTGAGCAGCATGAGCCCGGA 0.672000 38 79 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136726538 136726538 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:136726538G>C ENST00000371851.1 - 3 663 c.338C>G c.(337-339)tCg>tGg p.S113W VAV2_ENST00000406606.3_Missense_Mutation_p.S113W|VAV2_ENST00000371850.3_Missense_Mutation_p.S113W|VAV2_ENST00000486113.1_5'UTR P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 113 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GGAGAGCCTCGACACCGCGGA 0.577000 4 12 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454456 84454456 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:84454456A>T ENST00000377084.2 - 1 2072 c.1187T>A c.(1186-1188)gTg>gAg p.V396E NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 396 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTTGTAATCCACAAAGTGCGA 0.453000 82 199 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67223911 67223911 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:67223911G>C ENST00000438189.2 + 4 568 c.224G>C c.(223-225)cGc>cCc p.R75P CABP4_ENST00000325656.5_Missense_Mutation_p.R180P P57796 CABP4_HUMAN calcium binding protein 4 180 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) ATCAAGATGCGCAGTCAGTCA 0.672000 20 38 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237789017 237789017 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:237789017G>T ENST00000366574.2 + 40 6396 c.6079G>T c.(6079-6081)Ggg>Tgg p.G2027W RYR2_ENST00000542537.1_Missense_Mutation_p.G2011W|RYR2_ENST00000360064.6_Missense_Mutation_p.G2025W NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2027 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACAATTAGAGGGCGTCTGCT 0.383000 13 84 0.00136819 0.0014248 1 1 0 SLC6A19 340024 broad.mit.edu 37 5 1210639 1210639 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:1210639A>T ENST00000304460.10 + 3 480 c.424A>T c.(424-426)Aac>Tac p.N142Y NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 142 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GTACTTATTCAACTCCTTCCA 0.577000 14 67 0 0 1 0 0 PCDHB17P 54661 broad.mit.edu 37 5 140536803 140536803 + Silent SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:140536803G>C ENST00000539533.1 + 1 1227 c.1227G>C c.(1225-1227)gcG>gcC p.A409A CAGAAGGAGCGCTAGACAGAG 0.468000 41 17 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117389278 117389278 + Missense_Mutation SNP G G T rs146015983 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:117389278G>T ENST00000321322.6 - 7 1594 c.1593C>A c.(1591-1593)aaC>aaA p.N531K DSCAML1_ENST00000527706.1_Missense_Mutation_p.N261K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 471 Ig-like C2-type 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGCCTGTGACGTTCATGTGGC 0.632000 30 66 4.15321e-07 4.62171e-07 1 1 0 ANO2 57101 broad.mit.edu 37 12 6031869 6031869 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:6031869C>A ENST00000327087.8 - 2 183 c.112G>T c.(112-114)Ggt>Tgt p.G38C ANO2_ENST00000356134.5_Missense_Mutation_p.G38C|ANO2_ENST00000546188.1_Missense_Mutation_p.G38C Q9NQ90 ANO2_HUMAN anoctamin 2 42 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GCCCGGGGACCTGGCATCTTG 0.682000 3 10 0.00909568 0.00923484 1 1 0 TGIF1 7050 broad.mit.edu 37 18 3456507 3456507 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:3456507C>G ENST00000472042.1 + 1 1096 c.112C>G c.(112-114)Cgt>Ggt p.R38G TGIF1_ENST00000407501.2_Missense_Mutation_p.R58G|TGIF1_ENST00000345133.5_Missense_Mutation_p.R38G|TGIF1_ENST00000343820.5_Missense_Mutation_p.R58G|TGIF1_ENST00000577543.1_Missense_Mutation_p.R58G|TGIF1_ENST00000551541.1_Missense_Mutation_p.R38G|TGIF1_ENST00000551402.1_Missense_Mutation_p.R58G|TGIF1_ENST00000330513.5_Missense_Mutation_p.R187G|TGIF1_ENST00000548489.2_Missense_Mutation_p.R72G|TGIF1_ENST00000400167.2_Missense_Mutation_p.R38G|TGIF1_ENST00000405385.3_Missense_Mutation_p.R38G|TGIF1_ENST00000401449.1_Missense_Mutation_p.R38G Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 187 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) GTATGAGCACCGTTACAATGC 0.502000 93 1519 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37006527 37006527 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:37006527G>A ENST00000282516.8 + 17 4423 c.3924G>A c.(3922-3924)gcG>gcA p.A1308A NIPBL_ENST00000448238.2_Silent_p.A1308A NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1308 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.A1308A(2) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CAAAATCAGCGGATGCTTGTC 0.338000 76 41 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34371054 34371054 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:34371054C>G ENST00000297625.7 - 2 2011 c.1786G>C c.(1786-1788)Ggt>Cgt p.G596R NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 630 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) ATAGGGTCACCCGTGTCGGTG 0.662000 18 32 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10423871 10423871 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:10423871G>T ENST00000274140.5 + 23 2440 c.2308G>T c.(2308-2310)Gcc>Tcc p.A770S MARCH6_ENST00000503788.1_Missense_Mutation_p.A665S|MARCH6_ENST00000449913.2_Missense_Mutation_p.A722S|MARCH6_ENST00000510792.1_Missense_Mutation_p.A468S NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 770 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 AGTCCTGCATGCCAAAATCAT 0.368000 14 83 2.23348e-06 2.44811e-06 1 1 0 SPN 6693 broad.mit.edu 37 16 29675878 29675878 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:29675878T>C ENST00000360121.3 + 2 921 c.829T>C c.(829-831)Tgg>Cgg p.W277R SPN_ENST00000395389.2_Missense_Mutation_p.W277R|AC009133.19_ENST00000449759.1_Intron NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 277 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 GCTCCTGCTGTGGCGCCGGCG 0.692000 10 26 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137717804 137717804 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:137717804G>T ENST00000315930.6 - 4 1076 c.415C>A c.(415-417)Cct>Act p.P139T FGF13_ENST00000541469.1_Missense_Mutation_p.P93T|FGF13_ENST00000441825.2_Missense_Mutation_p.P120T|FGF13_ENST00000305414.4_Missense_Mutation_p.P86T|FGF13_ENST00000370603.3_Missense_Mutation_p.P149T NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 139 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) TTGCACTCAGGTGTGAAAAGT 0.363000 21 14 0.000175454 0.000185089 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31322991 31322991 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:31322991G>C ENST00000269197.5 + 12 3179 c.3179G>C c.(3178-3180)cGg>cCg p.R1060P NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1060 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATCAAGGCCCGGGCCCAACAA 0.617000 20 13 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141986941 141986941 + Nonsense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:141986941C>A ENST00000389484.3 - 6 1632 c.661G>T c.(661-663)Gga>Tga p.G221* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 221 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTTTACTTCCATTAAGATAG 0.289000 TSP Lung(27;0.18) 20 35 3.99206e-14 4.98154e-14 1 1 0 HLA-V 352962 broad.mit.edu 37 6 29761635 29761635 + RNA SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:29761635G>A ENST00000457107.1 + 0 861 cctgttgtaagtgtgagcaga 0.498000 3 17 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33110209 33110209 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:33110209G>A ENST00000306065.4 - 20 2122 c.1964C>T c.(1963-1965)tCa>tTa p.S655L NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 655 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) TGAGCTGGCTGACATGGAGGA 0.647000 29 114 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137150721 137150721 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:137150721T>C ENST00000453654.1 - 27 2238 c.1699A>G c.(1699-1701)Atg>Gtg p.M567V DGKI_ENST00000446122.1_Missense_Mutation_p.M839V|DGKI_ENST00000424189.2_Missense_Mutation_p.M870V|DGKI_ENST00000288490.5_Missense_Mutation_p.M857V O75912 DGKI_HUMAN diacylglycerol kinase, iota 857 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GACACCACCATATCTGGGTCC 0.512000 18 74 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58714638 58714638 + Splice_Site SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:58714638G>C ENST00000317391.4 + 4 418 c.78_splice c.e4+1 p.K26_splice GLYATL1_ENST00000300079.5_Intron|RP11-142C4.6_ENST00000533954.1_RNA NM_001220494.1 NP_001207423.1 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 26 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AGTCCCTGAAGGTCAGGGAAC 0.512000 17 31 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135409 55135409 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:55135409G>A ENST00000314706.3 + 1 50 c.50G>A c.(49-51)tGt>tAt p.C17Y NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CCTTTTGTTTGTAGGCTCCGA 0.433000 18 35 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7645622 7645622 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:7645622G>T ENST00000340209.4 + 5 852 c.555G>T c.(553-555)gtG>gtT p.V185V RBFOX1_ENST00000552089.1_Silent_p.V197V|RBFOX1_ENST00000311745.5_Silent_p.V200V|RBFOX1_ENST00000550418.1_Silent_p.V180V|RBFOX1_ENST00000422070.4_Silent_p.V223V|RBFOX1_ENST00000547338.1_Silent_p.V180V|RBFOX1_ENST00000436368.2_Silent_p.V200V|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Silent_p.V200V|RBFOX1_ENST00000553186.1_Silent_p.V180V|RBFOX1_ENST00000547372.1_Silent_p.V223V Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 180 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ACGGCACCGTGGTAGAGGGCC 0.448000 43 108 5.7616e-29 8.23086e-29 1 1 0 COL24A1 255631 broad.mit.edu 37 1 86590878 86590878 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:86590878C>A ENST00000370571.2 - 3 1507 c.1141G>T c.(1141-1143)Gat>Tat p.D381Y COL24A1_ENST00000436319.1_Missense_Mutation_p.D381Y NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 381 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) ACTCTATCATCATGTTGTGTG 0.383000 29 46 7.26314e-15 9.18907e-15 1 1 0 COL4A4 1286 broad.mit.edu 37 2 227922252 227922252 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:227922252C>T ENST00000396625.3 - 29 2655 c.2448G>A c.(2446-2448)ggG>ggA p.G816G COL4A4_ENST00000329662.7_Silent_p.G816G NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 816 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CACCTGGAAACCCAGCATGTC 0.547000 11 16 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118596744 118596744 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:118596744G>T ENST00000360388.4 + 5 961 c.760G>T c.(760-762)Ggt>Tgt p.G254C NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 254 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GGGAATGATTGGTCTCTTTGG 0.393000 38 54 9.85521e-28 1.39424e-27 1 1 0 OR2W1 26692 broad.mit.edu 37 6 29012785 29012785 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:29012785A>T ENST00000377175.1 - 1 232 c.168T>A c.(166-168)caT>caA p.H56Q NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 ACATTGGTGTATGAAGCTGGG 0.433000 43 64 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82817080 82817080 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:82817080G>A ENST00000265077.3 + 7 3520 c.2955G>A c.(2953-2955)gtG>gtA p.V985V VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.V937V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.V985V NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 985 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACTGGGGAGTGTTAGTACCTT 0.428000 4 70 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802584 185802584 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:185802584C>A ENST00000302277.6 + 4 3055 c.2461C>A c.(2461-2463)Ccc>Acc p.P821T NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 821 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CAGATTCCACCCCGGATTTGA 0.388000 21 43 8.10497e-08 9.08853e-08 1 1 0 PGBD2 267002 broad.mit.edu 37 1 249211348 249211348 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:249211348A>C ENST00000539153.1 + 4 811 c.556A>C c.(556-558)Agt>Cgt p.S186R PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.S189R|PGBD2_ENST00000355360.4_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 189 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TTTGATTTTAAGTGGGTACAT 0.393000 39 215 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47707857 47707857 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:47707857G>A ENST00000406134.1 + 15 2543 c.2481G>A c.(2479-2481)ggG>ggA p.G827G MSH2_ENST00000543555.1_Silent_p.G761G|MSH2_ENST00000233146.2_Silent_p.G827G P43246 MSH2_HUMAN mutS homolog 2 827 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAAGTTTTGGGATTCATGTTG 0.408000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 3 26 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146755727 146755727 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:146755727A>T ENST00000361719.2 + 9 3850 c.3380A>T c.(3379-3381)gAg>gTg p.E1127V GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.E1127V|GRM1_ENST00000355289.4_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1127 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CTGGAAGAGGAGGAGGAGGAC 0.637000 64 96 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27349396 27349396 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:27349396C>G ENST00000429845.2 - 12 1119 c.757G>C c.(757-759)Gaa>Caa p.E253Q NEK10_ENST00000341435.5_Missense_Mutation_p.E253Q Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 253 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AACAGATTTTCTACAATGTTG 0.303000 17 11 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10471671 10471671 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:10471671C>A ENST00000355285.4 + 3 741 c.387C>A c.(385-387)cgC>cgA p.R129R APCDD1_ENST00000578882.1_Silent_p.R129R NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 129 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) GCAAGATCCGCCTCCGCCAGG 0.562000 43 72 6.4771e-29 9.23493e-29 1 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140764612 140764612 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:140764612C>T ENST00000518325.1 + 1 2146 c.2146C>T c.(2146-2148)Ctg>Ttg p.L716L PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGCTCAGGCTGCGGCGCTG 0.622000 45 37 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89390979 89390979 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:89390979C>A ENST00000336596.2 + 5 1270 c.1045C>A c.(1045-1047)Ctg>Atg p.L349M EPHA3_ENST00000494014.1_Missense_Mutation_p.L349M|EPHA3_ENST00000452448.2_Missense_Mutation_p.L349M NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 349 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GAGTTGGCCCCTGGACACAGG 0.428000 TSP Lung(6;0.00050) 29 61 1.88708e-17 2.47765e-17 1 1 0 NLGN1 22871 broad.mit.edu 37 3 173998912 173998912 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:173998912T>C ENST00000457714.1 + 7 2720 c.2291T>C c.(2290-2292)cTa>cCa p.L764P NLGN1_ENST00000401917.3_Missense_Mutation_p.L804P|NLGN1_ENST00000361589.4_Missense_Mutation_p.L764P|NLGN1_ENST00000545397.1_Missense_Mutation_p.L764P NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 781 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GATTACACACTAGCTATGAGG 0.468000 60 99 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156485002 156485002 + Translation_Start_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:156485002C>A ENST00000339252.3 - 0 485 HAVCR1_ENST00000425854.1_De_novo_Start_OutOfFrame|HAVCR1_ENST00000544197.1_Intron|HAVCR1_ENST00000523175.1_Intron|HAVCR1_ENST00000522693.1_De_novo_Start_OutOfFrame NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGTTGGTACCCTCCACCAGAT 0.453000 12 10 6.40141e-05 6.812e-05 1 1 0 CHERP 10523 broad.mit.edu 37 19 16638948 16638948 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:16638948T>C ENST00000546361.2 - 9 1399 c.1248A>G c.(1246-1248)ccA>ccG p.P416P CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.P427P NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 416 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 GGGGCTTGTTTGGTGGGATCT 0.647000 32 107 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92620259 92620259 + Nonsense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:92620259C>A ENST00000298047.6 + 24 13048 c.13031C>A c.(13030-13032)tCa>tAa p.S4344* FAT3_ENST00000525166.1_Nonsense_Mutation_p.S4194*|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Nonsense_Mutation_p.S679*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S4344* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4344 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCCTTCCAGTCAGATTCTGGT 0.512000 TCGA Ovarian(4;0.039) 6 16 0.00198382 0.00204836 1 1 0 SLC19A3 80704 broad.mit.edu 37 2 228564092 228564092 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:228564092A>G ENST00000258403.3 - 3 410 c.339T>C c.(337-339)taT>taC p.Y113Y SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.Y109Y NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 113 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) TGACCATCCCATAGAAGAACT 0.542000 6 180 0 0 1 0 0 AGPAT4 56895 broad.mit.edu 37 6 161587367 161587367 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:161587367C>T ENST00000320285.4 - 3 473 c.261G>A c.(259-261)aaG>aaA p.K87K AGPAT4_ENST00000366906.5_Silent_p.K25K|AGPAT4_ENST00000366908.5_Silent_p.K87K|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366905.3_Silent_p.K87K NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 87 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) TGGCATTTTCCTTCCCATACT 0.532000 34 49 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69260746 69260746 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:69260746C>T ENST00000551568.1 - 7 930 c.870G>A c.(868-870)gaG>gaA p.E290E CPM_ENST00000546373.1_Silent_p.E290E|CPM_ENST00000338356.3_Silent_p.E290E NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 290 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GAAGCTTCTCCTCACGAGGAT 0.358000 33 52 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088007 9088007 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:9088007C>T ENST00000397910.4 - 1 4011 c.3808G>A c.(3808-3810)Gct>Act p.A1270T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1270 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTACTGAAGCCATGGTAAGT 0.493000 154 380 0 0 1 0 0 SLC35F2 54733 broad.mit.edu 37 11 107686528 107686528 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:107686528C>T ENST00000525071.1 - 5 862 c.274G>A c.(274-276)Gca>Aca p.A92T SLC35F2_ENST00000429869.1_Missense_Mutation_p.A92T|SLC35F2_ENST00000375682.4_Missense_Mutation_p.A45T|SLC35F2_ENST00000265836.7_Intron|SLC35F2_ENST00000525815.1_Missense_Mutation_p.A92T Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 92 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) GATCGAAATGCCAGCATCACT 0.348000 69 111 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166915161 166915161 + Missense_Mutation SNP C C T rs121917918 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:166915161C>T ENST00000423058.2 - 2 319 c.302G>A c.(301-303)cGg>cAg p.R101Q SCN1A_ENST00000409050.1_Missense_Mutation_p.R101Q|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R101Q|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R101Q NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 101 R -> Q (in SMEI; dbSNP:rs121917918).|R -> W (in SMEI; dbSNP:rs121917965). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGCACTGAACCGGAAGATGGC 0.358000 13 36 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627664 43627664 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:43627664C>A ENST00000332857.6 - 4 1051 c.1023G>T c.(1021-1023)tgG>tgT p.W341C NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTTTTCTTCCCAAATGTTGA 0.428000 134 103 2.27795e-59 3.42866e-59 1 1 0 LRIT3 345193 broad.mit.edu 37 4 110791582 110791582 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:110791582G>A ENST00000327908.3 + 4 1892 c.1128G>A c.(1126-1128)gtG>gtA p.V376V LRIT3_ENST00000594814.1_Silent_p.V559V|LRIT3_ENST00000409621.2_Silent_p.V376V|LRIT3_ENST00000379920.3_Silent_p.V514V Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 514 Ser-rich. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) CAAAAGGAGTGCCTCCCCAGA 0.498000 35 73 0 0 1 0 0 FEZF1 389549 broad.mit.edu 37 7 121942294 121942294 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:121942294G>T ENST00000442488.2 - 4 1252 c.1185C>A c.(1183-1185)aaC>aaA p.N395K FEZF1_ENST00000331178.4_Missense_Mutation_p.N391K|FEZF1_ENST00000427185.2_Missense_Mutation_p.N345K NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 395 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GCTTCTTGTCGTTGTGGGTGT 0.547000 21 91 1.64293e-13 2.01909e-13 1 1 0 MNDA 4332 broad.mit.edu 37 1 158817612 158817612 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:158817612G>C ENST00000368141.4 + 6 1343 c.1082G>C c.(1081-1083)tGt>tCt p.C361S NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 361 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AATATCAAGTGTGAGAAAGGA 0.428000 44 79 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85960372 85960372 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:85960372A>T ENST00000372117.3 + 6 557 c.454A>T c.(454-456)Agc>Tgc p.S152C CDHR1_ENST00000332904.3_Missense_Mutation_p.S152C NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 152 Cadherin 2. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 ACCTGCTGGGAGCATCATCTT 0.582000 6 9 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79348048 79348048 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:79348048C>A ENST00000233735.1 + 2 164 c.61C>A c.(61-63)Caa>Aaa p.Q21K NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 21 positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GTCTCAGAGCCAAGGTAAGAT 0.438000 40 17 5.71845e-15 7.24734e-15 1 1 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 5 327 0 0 1 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066427 46066427 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr21:46066427C>A ENST00000334670.8 + 1 97 c.52C>A c.(52-54)Cag>Aag p.Q18K TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 18 keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CGACTCCTGGCAGGTGGACGA 0.682000 4 138 1.23904e-05 1.34199e-05 1 1 0 CEP350 9857 broad.mit.edu 37 1 180047719 180047719 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:180047719G>T ENST00000367607.3 + 29 6307 c.5889G>T c.(5887-5889)caG>caT p.Q1963H NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1963 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CTATAGGACAGGAGCAGCCAG 0.423000 9 40 5.4927e-09 6.27492e-09 1 1 0 PRAME 23532 broad.mit.edu 37 22 22892163 22892163 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:22892163A>C ENST00000543184.1 - 4 1800 c.938T>G c.(937-939)cTg>cGg p.L313R PRAME_ENST00000398743.2_Missense_Mutation_p.L313R|PRAME_ENST00000424204.2_Missense_Mutation_p.L297R|PRAME_ENST00000539862.1_Missense_Mutation_p.L297R|PRAME_ENST00000405655.3_Missense_Mutation_p.L313R|PRAME_ENST00000398741.1_Missense_Mutation_p.L313R|PRAME_ENST00000402697.1_Missense_Mutation_p.L313R NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 313 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CAACTGATCCAGGCGGCCTCT 0.483000 18 18 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240990451 240990451 + Nonsense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:240990451C>A ENST00000366565.1 - 10 1012 c.631G>T c.(631-633)Gaa>Taa p.E211* RGS7_ENST00000366563.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E211*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E127*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.E158*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E185*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E158* NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 211 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) ATGTCCACTTCAGTTGTATTT 0.418000 17 76 5.3912e-06 5.88278e-06 1 1 0 IKZF2 22807 broad.mit.edu 37 2 213914594 213914594 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:213914594G>A ENST00000457361.1 - 5 585 c.417C>T c.(415-417)ccC>ccT p.P139P IKZF2_ENST00000342002.2_Silent_p.P145P|IKZF2_ENST00000451136.2_Silent_p.P113P|IKZF2_ENST00000374319.4_Silent_p.P113P|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Silent_p.P113P|IKZF2_ENST00000434687.1_Silent_p.P139P|IKZF2_ENST00000413091.3_Silent_p.P139P NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TACAGTGGAAGGGGCGTTCAC 0.448000 12 22 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170732404 170732404 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:170732404G>A ENST00000314251.3 - 3 304 c.225C>T c.(223-225)aaC>aaT p.N75N SLC2A2_ENST00000382808.4_Intron NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 75 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TTGGTTTTGGGTTCATTGAGT 0.463000 113 57 0 0 1 0 0 UGT1A4 54657 broad.mit.edu 37 2 234627556 234627556 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:234627556G>T ENST00000373409.3 + 1 133 c.90G>T c.(88-90)aaG>aaT p.K30N UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) AGAGTGGAAAGGTGTTGGTGG 0.667000 18 49 9.16793e-09 1.04409e-08 1 1 0 ACLY 47 broad.mit.edu 37 17 40034450 40034450 + Splice_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:40034450C>A ENST00000352035.2 - 22 2524 c.e22-1 ACLY_ENST00000393896.2_Splice_Site|ACLY_ENST00000537919.1_Splice_Site|ACLY_ENST00000590151.1_Splice_Site|ACLY_ENST00000353196.1_Splice_Site NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) GTATACAGACCTGGGAGGCAG 0.507000 8 25 0.000157383 0.000166266 1 1 0 DYNC2LI1 51626 broad.mit.edu 37 2 44021790 44021790 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:44021790G>A ENST00000406852.3 + 6 605 c.515G>A c.(514-516)tGc>tAc p.C172Y DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000260605.8_Intron|DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000398823.2_3'UTR NM_015522.3 NP_056337.1 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 0 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCTGTGAGTTGCTGTTTGGGA 0.338000 33 43 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150493555 150493555 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:150493555G>T ENST00000447204.2 - 2 475 c.103C>A c.(103-105)Caa>Aaa p.Q35K TMEM176B_ENST00000450753.2_Missense_Mutation_p.Q35K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.Q35K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.Q35K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.Q35K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.Q35K NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 35 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCAGCAGTTGTGTCAAAGCT 0.532000 13 74 0.000151284 0.00016052 1 1 0 LOC100128164 100128164 broad.mit.edu 37 3 169663677 169663677 + RNA SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:169663677G>A ENST00000483289.2 - 0 3617 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 CATTTTACAGGGCAGGAGCCC 0.453000 25 102 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44679718 44679718 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:44679718G>T ENST00000590089.1 + 7 670 c.303G>T c.(301-303)tgG>tgT p.W101C ZNF226_ENST00000454662.2_Missense_Mutation_p.W101C|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.W101C Q9NYT6 ZN226_HUMAN zinc finger protein 226 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) TTTCTTGTTGGCAAATCTGGC 0.378000 20 20 1.01871e-10 1.21315e-10 1 1 0 LINGO4 339398 broad.mit.edu 37 1 151774476 151774476 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:151774476G>T ENST00000368820.3 - 2 1642 c.705C>A c.(703-705)atC>atA p.I235I NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 235 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GCCAGAGGTGGATCTCCAGCT 0.637000 27 81 6.12954e-19 8.2102e-19 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 9943623 9943623 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:9943623C>T ENST00000396573.2 - 6 1627 c.1318G>A c.(1318-1320)Gtc>Atc p.V440I GRIN2A_ENST00000562109.1_Missense_Mutation_p.V440I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V440I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V440I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V283I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V440I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 440 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGATTTTGACGAACTTCCGA 0.507000 43 78 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655897 12655897 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:12655897C>T ENST00000425538.1 + 10 1492 c.1292C>T c.(1291-1293)cCc>cTc p.P431L MYOCD_ENST00000343344.4_Missense_Mutation_p.P431L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P335L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 431 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AACACGCTGCCCAATTACCAG 0.577000 117 116 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447443 226447443 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:226447443C>A ENST00000272907.6 + 4 1723 c.1310C>A c.(1309-1311)cCc>cAc p.P437H NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 437 Pro-rich. TCCACCTCTCCCTCCCCCGTC 0.647000 27 24 1.42536e-11 1.71137e-11 1 1 0 XIRP2 129446 broad.mit.edu 37 2 167760064 167760064 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:167760064T>A ENST00000409195.1 + 2 161 c.72T>A c.(70-72)agT>agA p.S24R XIRP2_ENST00000295237.9_Missense_Mutation_p.S24R|XIRP2_ENST00000409728.1_Missense_Mutation_p.S24R|XIRP2_ENST00000409043.1_Missense_Mutation_p.S24R|XIRP2_ENST00000409756.2_Missense_Mutation_p.S24R|XIRP2_ENST00000420519.1_Missense_Mutation_p.S24R NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCAGAGAAGTGAGTGTCATC 0.488000 33 47 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46657029 46657029 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:46657029G>T ENST00000544460.1 + 1 1418 c.1164G>T c.(1162-1164)tgG>tgT p.W388C TDRD6_ENST00000316081.6_Missense_Mutation_p.W388C NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 388 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GGAGAGGCTGGTCTCGGTCAC 0.493000 52 91 1.46357e-32 2.11986e-32 1 1 0 C14orf159 80017 broad.mit.edu 37 14 91662730 91662730 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:91662730A>C ENST00000518868.1 + 13 1897 c.1207A>C c.(1207-1209)Acg>Ccg p.T403P C14orf159_ENST00000523771.1_Missense_Mutation_p.T398P|C14orf159_ENST00000256324.10_Missense_Mutation_p.T403P|C14orf159_ENST00000522322.1_Missense_Mutation_p.T398P|C14orf159_ENST00000521077.2_Missense_Mutation_p.T403P|C14orf159_ENST00000520328.1_Missense_Mutation_p.T386P|C14orf159_ENST00000525393.2_Missense_Mutation_p.T274P|C14orf159_ENST00000523816.1_Missense_Mutation_p.T398P|C14orf159_ENST00000428926.2_Missense_Mutation_p.T398P|C14orf159_ENST00000412671.2_Missense_Mutation_p.T403P Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 398 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGTTCTGAAGACGCAGATCCC 0.473000 9 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179411937 179411937 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:179411937T>C ENST00000589042.1 - 340 94539 c.94315A>G c.(94315-94317)Aaa>Gaa p.K31439E TTN_ENST00000591111.1_Missense_Mutation_p.K29798E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K22374E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K28871E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K22566E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K22499E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29798 Fibronectin type-III 129. 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) CCAATGATTTTACTGCCACCA 0.453000 104 136 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48735816 48735816 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:48735816C>T ENST00000285238.8 + 6 713 c.633C>T c.(631-633)agC>agT p.S211S ABCC3_ENST00000427699.1_Silent_p.S211S NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 211 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CTGAGACCAGCGCTGGCTTTC 0.582000 50 104 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125506285 125506285 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:125506285C>A ENST00000241305.3 - 14 2420 c.2266G>T c.(2266-2268)Ggg>Tgg p.G756W CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 756 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GAGGGTCACCCACGCTGTCGT 0.582000 33 35 6.00712e-18 7.9442e-18 1 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755318 140755318 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:140755318T>G ENST00000517434.1 + 1 1668 c.1668T>G c.(1666-1668)aaT>aaG p.N556K PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCAGAATGACAATGCGC 0.642000 155 91 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67939133 67939133 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:67939133C>A ENST00000252336.6 + 6 1914 c.1542C>A c.(1540-1542)atC>atA p.I514I STARD8_ENST00000374599.3_Silent_p.I594I|STARD8_ENST00000374597.3_Silent_p.I514I NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 514 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CGCTGGAGATCAACCGGCAGT 0.607000 23 9 3.62473e-10 4.22018e-10 1 1 0 HAPLN1 1404 broad.mit.edu 37 5 82940381 82940381 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:82940381G>C ENST00000274341.4 - 4 1426 c.576C>G c.(574-576)gaC>gaG p.D192E NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 192 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CGTACAGCTGGTCGAAGGAGG 0.592000 40 21 0 0 1 0 0 CCT6P3 643180 broad.mit.edu 37 7 64498796 64498796 + RNA SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:64498796G>T ENST00000426828.1 + 0 59 NR_033416.1 CGGTGGGAGCGGGTGGCCCGG 0.726000 4 19 0.217242 0.218139 1 1 0 MAGEA10 4109 broad.mit.edu 37 X 151303506 151303506 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:151303506G>A ENST00000370323.4 - 4 903 c.587C>T c.(586-588)cCc>cTc p.P196L RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P196L NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 196 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GTGGCCAGTGGGATCCACTTC 0.488000 38 14 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128712000 128712000 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:128712000G>T ENST00000265068.5 - 2 315 c.148C>A c.(148-150)Cgc>Agc p.R50S KIAA1257_ENST00000511438.1_Missense_Mutation_p.R50S|KIAA1257_ENST00000510149.1_Intron NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 50 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 CTGCACGGGCGGTCAGAGTCA 0.602000 22 79 1.64113e-05 1.76961e-05 1 1 0 UNC13C 440279 broad.mit.edu 37 15 54556445 54556445 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:54556445G>T ENST00000545554.1 + 8 3528 c.3528G>T c.(3526-3528)aaG>aaT p.K1176N UNC13C_ENST00000537900.1_Missense_Mutation_p.K1174N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K1176N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1176 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) AAAGAATGAAGATCAGGGAGA 0.393000 6 7 0.00116845 0.00122026 1 1 0 RTN4IP1 84816 broad.mit.edu 37 6 107031225 107031225 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:107031225G>A ENST00000369063.3 - 8 1526 c.1061C>T c.(1060-1062)gCa>gTa p.A354V RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR NM_032730.4 NP_116119.2 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 354 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) CACCAGTTCTGCAATGTCATC 0.468000 17 18 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79470766 79470766 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:79470766G>T ENST00000370742.3 - 2 224 c.161C>A c.(160-162)aCa>aAa p.T54K NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 54 EGF-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTCACAAATTGTGACACCATT 0.373000 38 51 5.71845e-15 7.24734e-15 1 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995990 140995990 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:140995990A>G ENST00000285879.4 + 4 3086 c.2800A>G c.(2800-2802)Atg>Gtg p.M934V MAGEC1_ENST00000406005.2_Start_Codon_SNP_p.M1V NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 934 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AAAGGCAGAGATGCTGACGAA 0.473000 HNSCC(15;0.026) 117 45 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188223833 188223833 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:188223833T>G ENST00000409998.1 - 13 1647 c.866A>C c.(865-867)cAt>cCt p.H289P CALCRL_ENST00000410068.1_Missense_Mutation_p.H289P|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.H289P|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 289 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GTAGAGGAGATGGGTATCAGA 0.303000 73 117 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5275521 5275521 + Splice_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:5275521C>A ENST00000380259.2 - 7 1556 c.e7+1 HBG2_ENST00000336906.4_Splice_Site|HBG2_ENST00000380252.1_Splice_Site hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGGACTCACCTTGAAGTTC 0.498000 28 45 1.08312e-15 1.38715e-15 1 1 0 LAMA1 284217 broad.mit.edu 37 18 6943343 6943343 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:6943343G>A ENST00000389658.3 - 62 8996 c.8903C>T c.(8902-8904)aCc>aTc p.T2968I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2968 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACAGTGGCGGTTTTGGGCTC 0.443000 38 54 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8146456 8146456 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:8146456C>A ENST00000315684.8 - 2 51 c.44G>T c.(43-45)tGg>tTg p.W15L CTC1_ENST00000581671.1_Intron NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 15 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 ATCCTCAAGCCAGGCTTGTTC 0.438000 20 16 8.34094e-07 9.18384e-07 1 1 0 CD1A 909 broad.mit.edu 37 1 158227272 158227272 + Silent SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:158227272A>T ENST00000289429.5 + 5 1478 c.945A>T c.(943-945)atA>atT p.I315I NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 315 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TTCTTCTGATAGGTCTTGCGC 0.443000 51 157 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30695280 30695280 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:30695280G>T ENST00000471646.1 - 10 1386 c.969C>A c.(967-969)taC>taA p.Y323* CRHR2_ENST00000341843.4_Nonsense_Mutation_p.Y309*|CRHR2_ENST00000348438.4_Nonsense_Mutation_p.Y350*|CRHR2_ENST00000506074.2_Nonsense_Mutation_p.Y323* NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 323 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGAAGAGCATGTAGGTGATGC 0.607000 96 84 4.91162e-27 6.93517e-27 1 1 0 PSG5 5673 broad.mit.edu 37 19 43683276 43683276 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:43683276T>A ENST00000599812.1 - 3 559 c.464A>T c.(463-465)aAc>aTc p.N155I PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 155 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGGGTTTAAGTTGCTACTGGA 0.512000 109 178 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24627431 24627431 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:24627431G>T ENST00000327365.4 - 6 1238 c.822C>A c.(820-822)ccC>ccA p.P274P GGT5_ENST00000418439.2_Silent_p.P197P|GGT5_ENST00000398292.3_Silent_p.P274P|GGT5_ENST00000263112.7_Silent_p.P242P NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 274 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 AGTCCCCCAGGGGCACCTCCA 0.622000 3 6 0.004672 0.00476335 1 1 0 SPATA17 128153 broad.mit.edu 37 1 217947767 217947767 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:217947767C>G ENST00000366933.4 + 7 666 c.611C>G c.(610-612)cCt>cGt p.P204R NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 204 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) CACCGAAGACCTAAAGTTAAG 0.438000 56 48 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133175182 133175182 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:133175182C>A ENST00000329321.3 + 1 1036 c.567C>A c.(565-567)ctC>ctA p.L189L NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 189 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 ACCGGGGTCTCACTTGCAACC 0.627000 36 49 2.09667e-21 2.86623e-21 1 1 0 EPB41 2035 broad.mit.edu 37 1 29344777 29344777 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:29344777G>A ENST00000343067.4 + 7 1074 c.947G>A c.(946-948)gGa>gAa p.G316E EPB41_ENST00000373798.1_Missense_Mutation_p.G316E|EPB41_ENST00000373800.3_Missense_Mutation_p.G107E|EPB41_ENST00000356093.2_Missense_Mutation_p.G316E|EPB41_ENST00000349460.4_Missense_Mutation_p.G107E|EPB41_ENST00000347529.3_Missense_Mutation_p.G281E|EPB41_ENST00000398863.2_Missense_Mutation_p.G316E|EPB41_ENST00000373797.1_Missense_Mutation_p.G316E NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 316 FERM. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) ATAGTTGCAGGACGTCTGCCC 0.418000 34 51 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21721379 21721379 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:21721379G>T ENST00000388958.3 + 12 1276 c.1275G>T c.(1273-1275)aaG>aaT p.K425N OTOA_ENST00000388957.3_Missense_Mutation_p.K101N|OTOA_ENST00000286149.4_Missense_Mutation_p.K439N|OTOA_ENST00000388956.4_Missense_Mutation_p.K346N NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 439 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GTTGGGCCAAGAGCCAGGTCA 0.498000 12 22 1.5842e-08 1.79576e-08 1 1 0 AURKC 6795 broad.mit.edu 37 19 57743544 57743544 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:57743544G>T ENST00000302804.7 + 3 434 c.248G>T c.(247-249)gGa>gTa p.G83V AURKC_ENST00000448930.1_Missense_Mutation_p.G49V|AURKC_ENST00000598785.1_Missense_Mutation_p.G49V|AURKC_ENST00000415300.2_Missense_Mutation_p.G64V|AURKC_ENST00000599062.1_Missense_Mutation_p.G80V NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 83 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) GAGAAGGAAGGACTGGAGCAC 0.512000 19 25 5.26018e-13 6.42129e-13 1 1 0 CD300E 342510 broad.mit.edu 37 17 72608865 72608865 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:72608865A>G ENST00000392619.1 - 4 661 c.626T>C c.(625-627)cTg>cCg p.L209P CD300E_ENST00000328630.3_Missense_Mutation_p.L182P|CD300E_ENST00000426295.2_Missense_Mutation_p.L223P NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 182 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GAGCAGGGGCAGCTTCAGAAG 0.617000 68 99 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48806048 48806048 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:48806048C>A ENST00000315396.7 - 10 1714 c.1032G>T c.(1030-1032)aaG>aaT p.K344N NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 344 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GCTGCAACACCTTCTGCTGCT 0.622000 31 137 4.74835e-14 5.89507e-14 1 1 0 CACNG8 59283 broad.mit.edu 37 19 54483177 54483177 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:54483177G>C ENST00000270458.2 + 3 527 c.424G>C c.(424-426)Ggg>Cgg p.G142R NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 142 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GCTGCTGCTCGGGGGTGTGTG 0.637000 8 24 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130764823 130764823 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:130764823C>T ENST00000509018.1 - 27 4757 c.4552G>A c.(4552-4554)Gac>Aac p.D1518N RAPGEF6_ENST00000307984.5_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.D1568N|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1526N NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1518 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TCCTTTAGGTCCGCTAAAGAA 0.493000 49 29 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11337449 11337449 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:11337449C>T ENST00000315872.6 - 27 3753 c.3305G>A c.(3304-3306)cGa>cAa p.R1102Q ROCK2_ENST00000401753.1_Missense_Mutation_p.R859Q NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1102 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CAGTTCAATTCGAATCTGGCT 0.368000 11 36 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86544177 86544177 + Splice_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:86544177C>A ENST00000450689.2 - 13 1779 c.e13-1 KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000490995.1_Splice_Site|KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TATTAATATCCTGAAATATAG 0.289000 7 19 0.00198382 0.00204836 1 1 0 KLK15 55554 broad.mit.edu 37 19 51330287 51330287 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:51330287G>T ENST00000326856.4 - 4 454 c.325C>A c.(325-327)Ctg>Atg p.L109M KLK15_ENST00000301421.2_Missense_Mutation_p.L110M|KLK15_ENST00000596931.1_Missense_Mutation_p.L109M|KLK15_ENST00000416184.1_Missense_Mutation_p.L110M|KLK15_ENST00000598239.1_Missense_Mutation_p.L110M NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 110 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) ACTAGGCGCAGCAACATGATG 0.692000 34 93 6.84511e-11 8.16492e-11 1 1 0 KMT2B 9757 broad.mit.edu 37 19 36223501 36223501 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:36223501C>T ENST00000420124.1 + 28 6051 c.6051C>T c.(6049-6051)caC>caT p.H2017H WBP7_ENST00000222270.7_Silent_p.H2017H|KMT2B_ENST00000607650.1_RNA GGAGCAGCCACGGGGGCCCGG 0.687000 17 28 0 0 1 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65219136 65219136 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:65219136G>T ENST00000380230.3 + 6 537 c.508G>T c.(508-510)Ggg>Tgg p.G170W AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.G79W|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G170W|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G170W|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G79W NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 170 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 AGCTGAGCACGGGCAGCTGGA 0.622000 51 105 1.46156e-29 2.09614e-29 1 1 0 PCDHB11 56125 broad.mit.edu 37 5 140580935 140580935 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:140580935C>T ENST00000354757.3 + 1 1588 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C PCDHB11_ENST00000536699.1_Missense_Mutation_p.R165C NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTCGACTTCCGCGTGGGCGC 0.672000 114 63 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161599676 161599676 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:161599676C>T ENST00000294800.3 - 3 484 c.211G>A c.(211-213)Gcc>Acc p.A71T FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.A71T|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.A107T NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 71 Ig-like C2-type 1. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TAGCTCGAGGCCTGGCTTGAG 0.542000 67 107 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49351230 49351230 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:49351230T>C ENST00000263265.6 - 14 2048 c.1493A>G c.(1492-1494)cAg>cGg p.Q498R PLEKHA4_ENST00000355496.5_Missense_Mutation_p.Q473R NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 498 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GGGCGGTTTCTGGGGGCCACC 0.592000 27 30 0 0 1 0 0 LYZ 4069 broad.mit.edu 37 12 69742211 69742211 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:69742211G>C ENST00000261267.2 + 1 91 c.23G>C c.(22-24)gGg>gCg p.G8A LYZ_ENST00000549690.1_Missense_Mutation_p.G8A|LYZ_ENST00000548839.1_Missense_Mutation_p.G8A NM_000239.2 NP_000230.1 P61626 LYSC_HUMAN lysozyme 8 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) ATTGTTCTGGGGCTTGTCCTC 0.493000 13 59 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76475683 76475683 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:76475683G>A ENST00000389840.5 - 50 7866 c.7742C>T c.(7741-7743)cCc>cTc p.P2581L DNAH17_ENST00000585328.1_Missense_Mutation_p.P2590L|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTCCTGGCCGGGGAAGCTCAC 0.602000 89 104 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81568634 81568634 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:81568634C>A ENST00000548058.1 + 8 2076 c.1166C>A c.(1165-1167)gCc>gAc p.A389D ACSS3_ENST00000261206.3_Missense_Mutation_p.A388D|ACSS3_ENST00000548324.1_Missense_Mutation_p.A71D Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 389 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGAGTAGCTGCCTTGTTTACA 0.502000 10 40 0.000978159 0.00102594 1 1 0 OR8H1 219469 broad.mit.edu 37 11 56058145 56058145 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:56058145G>T ENST00000313022.2 - 1 421 c.394C>A c.(394-396)Cca>Aca p.P132T NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 132 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) ATAATAACTGGGTAACGTAGA 0.443000 10 109 7.13841e-38 1.05915e-37 1 1 0 SALL3 27164 broad.mit.edu 37 18 76754127 76754127 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:76754127C>T ENST00000536229.3 + 1 2446 c.1737C>T c.(1735-1737)tgC>tgT p.C579C SALL3_ENST00000575389.2_Silent_p.C712C|SALL3_ENST00000537592.2_Silent_p.C712C Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCAAGATCTGCGGCCGCGCCT 0.662000 12 18 0 0 1 0 0 FKBP9L 360132 broad.mit.edu 37 7 55755579 55755579 + RNA SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:55755579G>C ENST00000455909.1 - 0 427 NR_027340.1|NR_027342.1 FK506 binding protein 9-like endometrium(1)|kidney(1)|lung(3) 5 AACTTGCCCAGATCCCAGAAC 0.498000 48 39 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55223853 55223853 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:55223853A>G ENST00000340465.2 + 6 955 c.869A>G c.(868-870)cAa>cGa p.Q290R NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 290 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTTCAAGTGCAATGTACCTGT 0.403000 42 78 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176852072 176852072 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:176852072C>A ENST00000367654.2 - 20 3322 c.3309G>T c.(3307-3309)atG>atT p.M1103I ASTN1_ENST00000367657.3_Missense_Mutation_p.M1095I|ASTN1_ENST00000424564.2_Missense_Mutation_p.M1095I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M1095I O14525 ASTN1_HUMAN astrotactin 1 1103 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCTGAGATGGCATTGCACAAG 0.488000 15 79 0.000422831 0.000444765 1 1 0 RELN 5649 broad.mit.edu 37 7 103243844 103243844 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:103243844C>T ENST00000424685.2 - 24 3399 c.3240G>A c.(3238-3240)gaG>gaA p.E1080E RELN_ENST00000343529.5_Silent_p.E1080E|RELN_ENST00000428762.1_Silent_p.E1080E P78509 RELN_HUMAN reelin 1080 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCAGTCAGACTCCCAGCCAT 0.483000 43 71 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39805043 39805043 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:39805043C>A ENST00000248668.4 - 1 933 c.934G>T c.(934-936)Gtg>Ttg p.V312L NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 312 Ig-like. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) TGGCCTTCCACCACCAGGGCC 0.706000 7 12 0.00198382 0.00204836 1 1 0 MAST1 22983 broad.mit.edu 37 19 12958691 12958691 + Silent SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:12958691C>G ENST00000251472.4 + 7 633 c.594C>G c.(592-594)cgC>cgG p.R198R MAST1_ENST00000591495.1_Silent_p.R194R NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 198 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 AGAAGCTGCGCGACTTTACCC 0.701000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 8 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10388887 10388887 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:10388887C>G ENST00000328655.3 + 3 470 c.430C>G c.(430-432)Ctt>Gtt p.L144V PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.L144V NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 144 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 CAGCATCATTCTTCACAAAGA 0.517000 6 290 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136399236 136399236 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:136399236T>A ENST00000264160.4 + 15 1720 c.1350T>A c.(1348-1350)caT>caA p.H450Q R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H394Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.H450Q|R3HDM1_ENST00000409478.1_Intron NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 450 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) TCAGCACTCATAGTTCTCTTT 0.522000 52 103 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123477329 123477329 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:123477329C>A ENST00000529750.1 + 10 1234 c.907C>A c.(907-909)Ccc>Acc p.P303T GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P303T|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P310T NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 303 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 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;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TGATGGGCTGCCCCTGGAGGA 0.562000 9 10 0.00448238 0.00458925 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141267547 141267547 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:141267547C>A ENST00000389484.3 - 52 9319 c.8348G>T c.(8347-8349)gGt>gTt p.G2783V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2783 LDL-receptor class A 17. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTCCCTTTCACCATCACAAAG 0.532000 TSP Lung(27;0.18) 32 100 4.90274e-10 5.67195e-10 1 1 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334160 39334160 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:39334160A>C ENST00000377726.2 - 1 300 c.257T>G c.(256-258)tTc>tGc p.F86C NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 86 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CTGGGGTCTGAAGCAGCTGGA 0.672000 22 104 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141771282 141771282 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:141771282A>G ENST00000389484.3 - 14 3194 c.2223T>C c.(2221-2223)ccT>ccC p.P741P NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 741 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAGTCCGAAAGGGTGGTTCA 0.348000 TSP Lung(27;0.18) 26 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179437569 179437569 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:179437569C>T ENST00000589042.1 - 326 73514 c.73290G>A c.(73288-73290)ctG>ctA p.L24430L TTN_ENST00000591111.1_Silent_p.L22789L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.L15365L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.L21862L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L15557L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L15490L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22789 Fibronectin type-III 77. 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) GGTCAGCATCCAGTTCAATTT 0.522000 25 53 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248757051 248757051 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:248757051T>A ENST00000330500.2 - 1 49 c.19A>T c.(19-21)Acc>Tcc p.T7S NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCACCCAGGGTCTGGTTGGCC 0.463000 39 25 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530257 80530257 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:80530257G>T ENST00000295057.3 - 2 1344 c.688C>A c.(688-690)Ccg>Acg p.P230T CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P230T NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 230 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 ATGAGGCGCGGGAAGTGGGCG 0.582000 HNSCC(69;0.2) 56 151 5.47352e-35 8.05579e-35 1 1 0 SPTAN1 6709 broad.mit.edu 37 9 131351145 131351145 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:131351145G>T ENST00000372739.3 + 21 3039 c.2929G>T c.(2929-2931)Gac>Tac p.D977Y SPTAN1_ENST00000372731.4_Missense_Mutation_p.D977Y|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D977Y NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 977 SH3. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGCTCTCTACGACTATCAGGA 0.512000 34 25 9.17885e-22 1.26188e-21 1 1 0 ACTL7B 10880 broad.mit.edu 37 9 111618175 111618175 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:111618175C>T ENST00000374667.3 - 1 1064 c.36G>A c.(34-36)acG>acA p.T12T NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 12 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CACCCTGAGCCGTGCCCAGGG 0.657000 3 49 0 0 1 0 0 SKI 6497 broad.mit.edu 37 1 2235418 2235418 + Nonsense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:2235418C>T ENST00000378536.4 + 4 1423 c.1351C>T c.(1351-1353)Cag>Tag p.Q451* NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 451 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CACTTGCACCCAGCCTCGGAA 0.716000 6 13 0 0 1 0 0 C19orf54 284325 broad.mit.edu 37 19 41248439 41248439 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:41248439G>A ENST00000378313.2 - 6 1074 c.955C>T c.(955-957)Cgg>Tgg p.R319W C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598729.1_Missense_Mutation_p.R147W NM_198476.3 NP_940878.3 Q5BKX5 CS054_HUMAN chromosome 19 open reading frame 54 319 breast(1)|lung(1)|urinary_tract(2) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCAGTGGCCCGTGAGGGCGAG 0.647000 7 12 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25336852 25336852 + RNA SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:25336852T>G ENST00000546682.1 + 0 955 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 TGTTGGGTGCTGGTGGATCCC 0.502000 23 50 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123779052 123779052 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:123779052G>A ENST00000422452.2 - 10 1880 c.1817C>T c.(1816-1818)aCc>aTc p.T606I TENM1_ENST00000371130.3_Missense_Mutation_p.T606I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CATGATGCAGGTGCCGTGGCC 0.498000 130 45 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149524900 149524900 + RNA SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:149524900G>C ENST00000378016.2 + 0 14811 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCCGGGGGAGCTGGGGCTCT 0.652000 15 26 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169500098 169500098 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:169500098C>T ENST00000367796.3 - 15 5350 c.5149G>A c.(5149-5151)Gcc>Acc p.A1717T F5_ENST00000367797.3_Missense_Mutation_p.A1712T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1712 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CGCTCAGTGGCATGCCATACG 0.458000 94 81 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70549771 70549771 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:70549771G>C ENST00000377844.4 - 2 1420 c.661C>G c.(661-663)Cga>Gga p.R221G KLHL1_ENST00000545028.1_Intron NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 221 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGTATCTTTCGGTTCCCAACA 0.403000 45 93 0 0 1 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518319 161518319 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:161518319C>T ENST00000367969.3 - 3 502 c.319G>A c.(319-321)Gcc>Acc p.A107T FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Missense_Mutation_p.A71T|FCGR3A_ENST00000443193.1_Missense_Mutation_p.A106T|FCGR3A_ENST00000540048.1_Missense_Mutation_p.A71T NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 71 Ig-like C2-type 2. immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TAGCTCGAGGCCTGGCTTGAG 0.557000 74 542 0 0 1 0 0 IGLV8-61 28774 broad.mit.edu 37 22 22453565 22453565 + RNA SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:22453565C>T ENST00000390283.2 + 0 357 ATCACGGGGGCCCAGGCAGAT 0.498000 35 76 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15789122 15789122 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:15789122T>C ENST00000550308.1 + 3 630 c.250T>C c.(250-252)Tat>Cat p.Y84H CYP4F12_ENST00000324632.9_Missense_Mutation_p.Y84H NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GTCGGCCACCTATTCCCAGGG 0.512000 60 142 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121930047 121930047 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:121930047C>A ENST00000265922.3 - 8 2062 c.1601G>T c.(1600-1602)cGc>cTc p.R534L DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 534 cell cycle arrest|cell death cytoplasm protein binding p.R534H(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GAAGTCCATGCGGTTCTTGTT 0.552000 21 36 1.96292e-10 2.30375e-10 1 1 0 NCAM2 4685 broad.mit.edu 37 21 22746196 22746196 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr21:22746196G>T ENST00000400546.1 + 9 1307 c.1058G>T c.(1057-1059)cGt>cTt p.R353L NCAM2_ENST00000284894.7_Missense_Mutation_p.R211L|NCAM2_ENST00000535285.1_Missense_Mutation_p.R378L NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 353 Ig-like C2-type 4. neuron cell-cell adhesion integral to membrane|plasma membrane p.R353L(1) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CTGGACGGCCGTATCGAAGTC 0.408000 37 58 3.61848e-18 4.79399e-18 1 1 0 KCNH8 131096 broad.mit.edu 37 3 19575380 19575380 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:19575380C>T ENST00000328405.2 + 16 3379 c.3113C>T c.(3112-3114)tCg>tTg p.S1038L NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 1038 Ser-rich. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TGCTCCTCTTCGGAAACATCT 0.468000 71 48 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576355 33576355 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:33576355G>T ENST00000504830.1 - 19 4111 c.3776C>A c.(3775-3777)cCc>cAc p.P1259H ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1174H NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1259 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTTTCCTGAGGGTTCTGGCTG 0.512000 HNSCC(64;0.19) 35 299 1.04352e-10 1.23865e-10 1 1 0 EVX2 344191 broad.mit.edu 37 2 176946954 176946954 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:176946954G>A ENST00000308618.4 - 2 787 c.651C>T c.(649-651)cgC>cgT p.R217R NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 217 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GCTCGCACCGGCGGGGCCGCG 0.657000 15 12 0 0 1 0 0 MRGBP 55257 broad.mit.edu 37 20 61428574 61428574 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:61428574G>T ENST00000370487.3 + 2 332 c.261G>T c.(259-261)atG>atT p.M87I NM_018270.4 NP_060740.1 MRG/MORF4L binding protein TGTACGACATGCAGGCGCTGG 0.622000 24 42 6.36457e-07 7.03961e-07 1 1 0 CCDC129 223075 broad.mit.edu 37 7 31691586 31691586 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:31691586G>T ENST00000319386.3 + 13 3294 c.2301G>T c.(2299-2301)gaG>gaT p.E767D CCDC129_ENST00000409210.1_Missense_Mutation_p.E823D|CCDC129_ENST00000451887.2_Missense_Mutation_p.E941D|CCDC129_ENST00000407970.3_Missense_Mutation_p.E915D Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 915 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CGTTACGTGAGGCCCTGAGGC 0.483000 3 0 1 1 1 1 0 CCNB3 85417 broad.mit.edu 37 X 50052792 50052792 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:50052792G>T ENST00000376042.1 + 6 1921 c.1623G>T c.(1621-1623)gaG>gaT p.E541D CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E541D|CCNB3_ENST00000376038.1_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 541 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CCACACAAGAGATGATGTCCA 0.373000 17 6 0.00400662 0.00411369 1 1 0 PCDH17 27253 broad.mit.edu 37 13 58209108 58209108 + Silent SNP C C A rs147572809 byFrequency TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:58209108C>A ENST00000377918.3 + 1 2454 c.2428C>A c.(2428-2430)Cgg>Agg p.R810R NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 810 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGCTCGCCCCGGTCGGAGGT 0.632000 7 19 0.0293803 0.0296648 1 1 0 SHD 56961 broad.mit.edu 37 19 4290529 4290529 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:4290529A>T ENST00000543264.2 + 6 2385 c.922A>T c.(922-924)Agc>Tgc p.S308C SHD_ENST00000599689.1_Missense_Mutation_p.S268C NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 308 SH2. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCTTCCCCAGCGTGCCCGA 0.672000 39 84 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107267262 107267262 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:107267262C>G ENST00000334726.2 + 1 808 c.719C>G c.(718-720)aCg>aGg p.T240R NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCCTTTTCAACGTGCACAGCC 0.473000 7 103 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216052140 216052140 + Nonsense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:216052140G>A ENST00000366943.2 - 42 8910 c.8524C>T c.(8524-8526)Caa>Taa p.Q2842* USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q2842* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2842 Fibronectin type-III 15. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATGGTGGTTGCCAAGAAATC 0.423000 HNSCC(13;0.011) 9 45 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749478 22749478 + RNA SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:22749478A>G ENST00000503442.1 + 0 377 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA NM_001128432.2 NP_001121904.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AAGGCTATCCATCATCGAGGC 0.388000 7 8 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4216579 4216579 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:4216579G>A ENST00000600132.1 + 18 1698 c.1422G>A c.(1420-1422)caG>caA p.Q474Q ANKRD24_ENST00000318934.4_Silent_p.Q474Q|ANKRD24_ENST00000262970.5_Silent_p.Q564Q NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 474 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) ACGAGACACAGATGGAAGTGG 0.602000 6 11 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141208161 141208161 + Nonsense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:141208161C>A ENST00000389484.3 - 63 11004 c.10033G>T c.(10033-10035)Gga>Tga p.G3345* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3345 LDL-receptor class A 21. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G3345R(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCAGATCCATCACCACAG 0.348000 TSP Lung(27;0.18) 16 35 1.55795e-14 1.96086e-14 1 1 0 DPY19L1 23333 broad.mit.edu 37 7 34981467 34981467 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:34981467T>C ENST00000310974.4 - 18 1524 c.1380A>G c.(1378-1380)gcA>gcG p.A460A NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 460 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 GGGCTGTATATGCTAACAATT 0.353000 29 21 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41553999 41553999 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:41553999G>T ENST00000396942.1 - 26 2925 c.2842C>A c.(2842-2844)Cgc>Agc p.R948S ANK1_ENST00000265709.8_Missense_Mutation_p.R989S|ANK1_ENST00000347528.4_Missense_Mutation_p.R948S|ANK1_ENST00000352337.4_Missense_Mutation_p.R948S|ANK1_ENST00000379758.2_Missense_Mutation_p.R948S|ANK1_ENST00000289734.7_Missense_Mutation_p.R948S|ANK1_ENST00000396945.1_Missense_Mutation_p.R948S P16157 ANK1_HUMAN ankyrin 1, erythrocytic 948 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAGGTGATGCGGGTGGGCGCT 0.687000 17 52 2.4624e-09 2.82634e-09 1 1 0 RBM47 54502 broad.mit.edu 37 4 40440638 40440638 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:40440638G>T ENST00000319592.4 - 4 982 c.273C>A c.(271-273)ttC>ttA p.F91L RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.F91L|RBM47_ENST00000295971.7_Missense_Mutation_p.F91L|RBM47_ENST00000381795.6_Missense_Mutation_p.F91L|RBM47_ENST00000514014.1_Missense_Mutation_p.F53L A0AV96 RBM47_HUMAN RNA binding motif protein 47 91 RRM 1. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCACGGCCTCGAACACGGGCA 0.672000 38 27 1.04594e-18 1.39586e-18 1 1 0 SPEF2 79925 broad.mit.edu 37 5 35712924 35712924 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:35712924T>A ENST00000440995.2 + 20 2835 c.2835T>A c.(2833-2835)caT>caA p.H945Q CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.H950Q Q9C093 SPEF2_HUMAN sperm flagellar 2 950 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGCCCCGCATGGTAAGCAAG 0.358000 40 21 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79320286 79320286 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:79320286T>G ENST00000428286.1 - 8 7027 c.5827A>C c.(5827-5829)Agt>Cgt p.S1943R PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2302R Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2302 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCGCTGAAACTGTGGTCAAAG 0.483000 35 34 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21975224 21975224 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:21975224T>A ENST00000382254.1 - 6 1588 c.502A>T c.(502-504)Act>Tct p.T168S CDH12_ENST00000504376.2_Missense_Mutation_p.T168S|CDH12_ENST00000522262.1_Missense_Mutation_p.T168S NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 168 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCTGGAACAGTAGCAACATAA 0.398000 HNSCC(59;0.17) 29 176 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089629 86089629 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:86089629G>T ENST00000330753.4 + 2 2538 c.1771G>T c.(1771-1773)Gca>Tca p.A591S FLRT2_ENST00000554746.1_Missense_Mutation_p.A591S NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 591 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TTATTGCGAGGCAGGCACCAA 0.483000 82 135 4.34595e-34 6.3578e-34 1 1 0 IQGAP2 10788 broad.mit.edu 37 5 75866432 75866432 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:75866432G>C ENST00000274364.6 + 4 628 c.331G>C c.(331-333)Gat>Cat p.D111H IQGAP2_ENST00000379730.3_5'UTR NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 111 CH. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TCGACACACAGATAATACCGT 0.438000 46 31 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142482981 142482981 + RNA SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:142482981A>T ENST00000430863.1 - 0 1918 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CAGGAATTTGAGGAGGATCAT 0.657000 12 12 0 0 1 0 0 AK5 26289 broad.mit.edu 37 1 77752771 77752771 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:77752771C>A ENST00000344720.5 + 2 1154 c.128C>A c.(127-129)cCa>cAa p.P43Q AK5_ENST00000354567.2_Missense_Mutation_p.P69Q|AK5_ENST00000317704.4_3'UTR NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 69 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 ACCTTACCTCCACTAAATGGA 0.358000 25 56 5.45024e-15 6.93149e-15 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 42047048 42047048 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:42047048G>A ENST00000372584.1 - 3 4435 c.3421C>T c.(3421-3423)Cca>Tca p.P1141S HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1141S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1141S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1141S NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1141 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GAGACTGGTGGGGGCAGGTAT 0.602000 48 123 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31374634 31374634 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:31374634G>A ENST00000268296.4 + 14 1770 c.1649G>A c.(1648-1650)cGg>cAg p.R550Q ITGAX_ENST00000562522.1_Missense_Mutation_p.R550Q NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 550 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity p.R550Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GAGGAGAACCGGGGTGCTGTC 0.632000 84 166 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99157183 99157183 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:99157183G>C ENST00000370189.5 + 5 739 c.375G>C c.(373-375)ttG>ttC p.L125F SNX7_ENST00000306121.3_Missense_Mutation_p.L189F|SNX7_ENST00000529992.1_Intron Q9UNH6 SNX7_HUMAN sorting nexin 7 125 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) ATAAATTTTTGAACCGAATTG 0.338000 12 25 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173998518 173998518 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:173998518G>T ENST00000457714.1 + 7 2326 c.1897G>T c.(1897-1899)Gac>Tac p.D633Y NLGN1_ENST00000401917.3_Missense_Mutation_p.D673Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.D633Y|NLGN1_ENST00000545397.1_Missense_Mutation_p.D633Y NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 650 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GCCATCAACTGACATCACTTT 0.433000 67 142 3.8128e-34 5.58905e-34 1 1 0 ATG2B 55102 broad.mit.edu 37 14 96783634 96783634 + Nonsense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:96783634C>A ENST00000359933.4 - 20 3951 c.3058G>T c.(3058-3060)Gag>Tag p.E1020* NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1020 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AAAGTCTCCTCCTCAGATCCA 0.328000 21 4 1.96292e-10 2.30375e-10 1 1 0 IPO13 9670 broad.mit.edu 37 1 44415343 44415343 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:44415343C>T ENST00000372343.3 + 2 1001 c.339C>T c.(337-339)gcC>gcT p.A113A NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 113 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CCCGCTTTGCCAGTGGCTCCA 0.552000 11 61 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40077286 40077286 + Splice_Site SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:40077286T>C ENST00000324616.5 + 9 1440 c.1286_splice c.e9+1 p.M429_splice C12orf40_ENST00000405531.3_Splice_Site_p.M429_splice|C12orf40_ENST00000398716.1_Splice_Site_p.I352_splice NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 429 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 GCAAACTCTATGTAAGTTTTT 0.328000 7 14 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47221257 47221257 + Splice_Site SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:47221257C>T ENST00000296861.2 - 4 1637 c.1243_splice c.e4-1 p.G415_splice NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 415 Death. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) GATATCGATACCTACACCAGA 0.433000 20 45 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59860322 59860322 + Splice_Site SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:59860322G>C ENST00000278888.3 + 4 480 c.e4+1 NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) AACATATCTGGTGAGTTGCCC 0.348000 13 20 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99164286 99164286 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:99164286A>G ENST00000370189.5 + 7 1035 c.671A>G c.(670-672)tAt>tGt p.Y224C SNX7_ENST00000306121.3_Missense_Mutation_p.Y288C|SNX7_ENST00000529992.1_Missense_Mutation_p.Y233C Q9UNH6 SNX7_HUMAN sorting nexin 7 224 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) ATGAAAGAATATGGCCCAATT 0.348000 17 17 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890361 229890361 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:229890361G>T ENST00000392054.3 - 4 1073 c.734C>A c.(733-735)tCc>tAc p.S245Y PID1_ENST00000354069.6_Missense_Mutation_p.S247Y|PID1_ENST00000392055.3_Missense_Mutation_p.S214Y|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.S165Y NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 247 PID. cytoplasm p.S245F(1) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GCCATCATCGGATTCCAATTC 0.498000 41 70 4.67007e-22 6.43235e-22 1 1 0 TSSK2 23617 broad.mit.edu 37 22 19119173 19119173 + Nonsense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:19119173C>G ENST00000399635.2 + 1 853 c.261C>G c.(259-261)taC>taG p.Y87* DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 87 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) GACGGATCTACATCATCATGG 0.552000 23 36 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128852125 128852125 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:128852125G>T ENST00000249373.3 + 12 2477 c.2197G>T c.(2197-2199)Gtc>Ttc p.V733F RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 733 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GTGGACCCTGGTCTCCAACCC 0.667000 Mis skin basal cell 8 27 0.00307968 0.0031709 1 1 0 SCG5 6447 broad.mit.edu 37 15 32972061 32972061 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:32972061T>C ENST00000300175.4 + 3 431 c.321T>C c.(319-321)ttT>ttC p.F107F SCG5_ENST00000494364.1_Silent_p.F107F|SCG5_ENST00000497208.1_Silent_p.F107F|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000413748.2_Silent_p.F107F NM_001144757.1 NP_001138229.1 P05408 7B2_HUMAN secretogranin V (7B2 protein) 107 intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion extracellular region|stored secretory granule enzyme inhibitor activity|GTP binding|unfolded protein binding lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 6 all_lung(180;7.32e-08) all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212) CTAAGGACTTTAGTGAGGATC 0.498000 55 166 0 0 1 0 0 KLRC1 3821 broad.mit.edu 37 12 10601978 10601978 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:10601978C>T ENST00000544822.1 - 6 734 c.347G>A c.(346-348)tGt>tAt p.C116Y KLRC1_ENST00000359151.3_Missense_Mutation_p.C116Y|KLRC1_ENST00000536188.1_Missense_Mutation_p.C116Y|KLRC1_ENST00000408006.3_Missense_Mutation_p.C98Y|KLRC1_ENST00000347831.5_Missense_Mutation_p.C98Y NM_213658.2 NP_998823.1 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, member 1 116 cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 ACAATGGCCACAATGACGTGC 0.343000 82 130 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64422299 64422299 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:64422299G>T ENST00000262043.3 + 16 5155 c.4815G>T c.(4813-4815)ttG>ttT p.L1605F PHF3_ENST00000393387.1_Missense_Mutation_p.L1605F Q92576 PHF3_HUMAN PHD finger protein 3 1605 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGAATAATTTGCAAGATAACC 0.328000 23 37 3.62473e-10 4.22018e-10 1 1 0 C9orf135 138255 broad.mit.edu 37 9 72521027 72521027 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:72521027C>T ENST00000377197.3 + 6 752 c.665C>T c.(664-666)aCt>aTt p.T222I C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 222 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 TATCCCTTGACTAGTGGGCCT 0.338000 14 64 0 0 1 0 0 FOS 2353 broad.mit.edu 37 14 75747367 75747367 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:75747367A>C ENST00000303562.4 + 3 707 c.498A>C c.(496-498)caA>caC p.Q166H FOS_ENST00000555686.1_Missense_Mutation_p.Q52H|FOS_ENST00000555242.1_Missense_Mutation_p.Q166H|FOS_ENST00000535987.1_Intron|FOS_ENST00000555347.1_Missense_Mutation_p.Q18H NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 166 Leucine-zipper. cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) ATACACTCCAAGCGGTAGGTA 0.478000 21 32 0 0 1 0 0 VTA1 51534 broad.mit.edu 37 6 142525193 142525193 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:142525193A>G ENST00000367630.4 + 7 827 c.769A>G c.(769-771)Att>Gtt p.I257V VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Missense_Mutation_p.I199V NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 257 Interaction with VPS4B (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TTTCAATACAATTTCCCAGGG 0.373000 22 40 0 0 1 0 0 CPPED1 55313 broad.mit.edu 37 16 12798821 12798821 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:12798821G>T ENST00000381774.4 - 3 615 c.375C>A c.(373-375)agC>agA p.S125R CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron NM_018340.2 NP_060810.2 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain containing 1 125 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 CATGGTTGCCGCTGACAAGGA 0.637000 29 75 3.65163e-15 4.66029e-15 1 1 0 ZNF347 84671 broad.mit.edu 37 19 53645668 53645668 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:53645668G>A ENST00000452676.2 - 5 842 c.416C>T c.(415-417)aCa>aTa p.T139I ZNF347_ENST00000334197.7_Missense_Mutation_p.T138I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.T139I NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGCCATGTGTATTTTTCTG 0.418000 45 59 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25551136 25551136 + Splice_Site SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:25551136A>T ENST00000329474.6 + 27 2696 c.e27-1 NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GCTGCATTGCAGGCGTTGCTT 0.488000 51 88 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79356840 79356840 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:79356840T>C ENST00000419573.3 - 2 579 c.305A>G c.(304-306)gAg>gGg p.E102G RASGRF1_ENST00000558480.2_Missense_Mutation_p.E102G|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 102 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTTCTGGTTCTCATGGCTGAA 0.493000 4 217 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149482235 149482235 + RNA SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:149482235C>A ENST00000378016.2 + 0 2909 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCTGTGTGCCTCCTGACCTC 0.637000 53 59 1.63038e-21 2.23297e-21 1 1 0 OR2G2 81470 broad.mit.edu 37 1 247752567 247752567 + Silent SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:247752567G>C ENST00000320065.1 + 1 906 c.906G>C c.(904-906)ggG>ggC p.G302G RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGGTGAAAGGGGCATTAAAGA 0.363000 36 174 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1272362 1272362 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:1272362G>T ENST00000310581.5 - 7 2377 c.2320C>A c.(2320-2322)Cga>Aga p.R774R TERT_ENST00000508104.2_Intron|TERT_ENST00000334602.6_Silent_p.R774R|TERT_ENST00000296820.5_Intron NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 774 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACGAACTGTCGCATGTACGGC 0.642000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 5 42 3.59834e-05 3.86861e-05 1 1 0 FAT2 2196 broad.mit.edu 37 5 150911310 150911310 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:150911310C>A ENST00000261800.5 - 13 9661 c.9649G>T c.(9649-9651)Gtg>Ttg p.V3217L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3217 Cadherin 28. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCAGGAACACGGGCAGGTAG 0.677000 53 25 2.72333e-11 3.25907e-11 1 1 0 RIMS2 9699 broad.mit.edu 37 8 105261717 105261717 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:105261717G>T ENST00000507740.1 + 20 3270 c.3034G>T c.(3034-3036)Gac>Tac p.D1012Y RIMS2_ENST00000436393.2_Missense_Mutation_p.D1216Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1037Y|RIMS2_ENST00000339750.2_Missense_Mutation_p.D134Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1198Y NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1260 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCCATTAGGTGACATTCAGGT 0.433000 HNSCC(12;0.0054) 12 40 3.07112e-06 3.36119e-06 1 1 0 AOC4P 90586 broad.mit.edu 37 17 41020792 41020792 + RNA SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:41020792C>T ENST00000585538.1 + 0 1631 NR_002773.1 CAGCATTCCCCTTTGGTGCTG 0.537000 11 19 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53227957 53227957 + Missense_Mutation SNP G G T rs142757937 byFrequency TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:53227957G>T ENST00000330553.5 - 1 122 c.88C>A c.(88-90)Cgc>Agc p.R30S NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 30 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AAGCTGGTGCGGGCCTGGGAC 0.647000 30 51 4.22769e-11 5.05109e-11 1 1 0 AXDND1 126859 broad.mit.edu 37 1 179452356 179452356 + Splice_Site SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:179452356C>T ENST00000367618.3 + 18 2478 c.2091_splice c.e18+1 p.H697_splice AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 697 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TTCAGCACCACGTATGTACTT 0.373000 7 116 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197029575 197029575 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:197029575A>G ENST00000367412.1 - 5 769 c.726T>C c.(724-726)caT>caC p.H242H NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 242 Sushi 4. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AATAATTTTCATGACAGAAAA 0.303000 16 67 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654957 161654957 + RNA SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:161654957G>A ENST00000426558.1 - 0 85 NR_002595.1 GTTGATGGCAGAACGGCCCTT 0.547000 12 29 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100279 168100279 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:168100279C>A ENST00000409195.1 + 9 2466 c.2377C>A c.(2377-2379)Cga>Aga p.R793R XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.R793R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R571R|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 618 actin cytoskeleton organization cell junction actin binding p.R793*(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAAAGTTGTCCGAGGAATATC 0.403000 32 63 2.85442e-18 3.79549e-18 1 1 0 IFT122 55764 broad.mit.edu 37 3 129183607 129183607 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:129183607C>T ENST00000296266.3 + 8 891 c.699C>T c.(697-699)atC>atT p.I233I IFT122_ENST00000504021.1_Silent_p.I135I|IFT122_ENST00000440957.2_Silent_p.I32I|IFT122_ENST00000431818.2_Silent_p.I32I|IFT122_ENST00000347300.2_Silent_p.I182I|IFT122_ENST00000507564.1_Silent_p.I233I|IFT122_ENST00000348417.2_Silent_p.I182I|IFT122_ENST00000349441.2_Silent_p.I130I NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 182 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 TATGGTCCATCTGCTGGAACC 0.488000 25 114 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87765302 87765302 + Nonsense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:87765302T>A ENST00000398204.4 + 14 1499 c.1176T>A c.(1174-1176)tgT>tgA p.C392* ADAM22_ENST00000398209.3_Nonsense_Mutation_p.C392*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.C392*|ADAM22_ENST00000315984.7_Nonsense_Mutation_p.C392*|ADAM22_ENST00000265727.7_Nonsense_Mutation_p.C392* NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 392 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TAGGTGAATGTAAATGCGAGG 0.378000 20 31 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677154 7677154 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:7677154C>T ENST00000446248.2 + 13 1957 c.1856C>T c.(1855-1857)cCg>cTg p.P619L CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P592L NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 592 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 ACTCCGGCCCCGCCGGAGGCC 0.627000 3 7 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744247 70744247 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:70744247G>T ENST00000260126.3 - 2 1368 c.662C>A c.(661-663)cCc>cAc p.P221H SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P221H|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P221H|SLCO5A1_ENST00000528658.1_5'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 221 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GATCTGGTAGGGGGGCGAGAT 0.677000 13 37 1.61879e-10 1.90908e-10 1 1 0 PODN 127435 broad.mit.edu 37 1 53544461 53544461 + Missense_Mutation SNP C C A rs145236540 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:53544461C>A ENST00000371500.3 + 10 1707 c.1366C>A c.(1366-1368)Cgc>Agc p.R456S PODN_ENST00000312553.5_Missense_Mutation_p.R475S|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.R333S NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 427 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.R475C(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGACGCCTTCCGCAAGCTGCG 0.642000 31 98 4.74835e-14 5.89507e-14 1 1 0 EPHA7 2045 broad.mit.edu 37 6 94066616 94066616 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:94066616G>T ENST00000369303.4 - 5 1327 c.1143C>A c.(1141-1143)ccC>ccA p.P381P NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 381 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TACTCCCACAGGGAACACATT 0.483000 23 42 1.22574e-08 1.39375e-08 1 1 0 DHX34 9704 broad.mit.edu 37 19 47865833 47865833 + Silent SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:47865833G>C ENST00000328771.4 + 6 1825 c.1476G>C c.(1474-1476)gcG>gcC p.A492A DHX34_ENST00000471451.1_Intron NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 492 Helicase C-terminal. intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGGGCCGGGCGGGCCGCACGG 0.647000 6 26 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32157637 32157637 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:32157637C>G ENST00000375050.4 - 1 326 c.56G>C c.(55-57)gGa>gCa p.G19A NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 19 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 ACTCACCAATCCCAggccccc 0.781000 6 12 0 0 1 0 0 CWC25 54883 broad.mit.edu 37 17 36958448 36958448 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:36958448A>G ENST00000225428.4 - 10 1472 c.1175T>C c.(1174-1176)cTg>cCg p.L392P CWC25_ENST00000536127.1_Missense_Mutation_p.L329P NM_017748.3 NP_060218.1 Q9NXE8 CWC25_HUMAN CWC25 spliceosome-associated protein homolog (S. cerevisiae) 392 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 TGCACTCTCCAGCTTCATGCG 0.443000 11 23 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978655 58978655 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:58978655T>A ENST00000361050.3 - 1 1769 c.1684A>T c.(1684-1686)Agc>Tgc p.S562C NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 562 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GGGTGCTGGCTGAAGCCCCCG 0.597000 39 94 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20209394 20209394 + Splice_Site SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:20209394T>A ENST00000395530.2 + 12 3081 c.2874_splice c.e12+1 p.L958_splice SPECC1_ENST00000395527.4_Splice_Site_p.L1039_splice|SPECC1_ENST00000536879.1_Splice_Site_p.L379_splice|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Splice_Site_p.L1039_splice NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 1039 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) AAACCCAGCCTGGTACGTATC 0.358000 44 60 0 0 1 0 0 CPNE5 57699 broad.mit.edu 37 6 36742829 36742829 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:36742829G>T ENST00000244751.2 - 10 1270 c.646C>A c.(646-648)Cac>Aac p.H216N NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 216 C2 2. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TCGGTCTTGTGGCAAATGGTG 0.532000 10 29 0.00829132 0.00844165 1 1 0 BHLHE22 27319 broad.mit.edu 37 8 65494139 65494139 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:65494139G>C ENST00000321870.1 + 1 1326 c.792G>C c.(790-792)gaG>gaC p.E264D RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 264 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 CGCTGGACGAGCTGCGCGCGG 0.627000 8 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9014624 9014624 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:9014624C>A ENST00000397910.4 - 31 38554 c.38351G>T c.(38350-38352)aGg>aTg p.R12784M NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12786 SEA 5. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGCTGCTCCCTGTCCACTCC 0.577000 81 117 2.33925e-33 3.39493e-33 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176526072 176526072 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:176526072G>C ENST00000367662.3 + 2 1778 c.614G>C c.(613-615)cGg>cCg p.R205P PAPPA2_ENST00000367661.3_Missense_Mutation_p.R205P NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 205 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R205P(4) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGGAAGAGGCGGGCGGAAGAT 0.562000 40 143 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243801040 243801040 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:243801040A>T ENST00000366539.1 - 6 634 c.434T>A c.(433-435)aTg>aAg p.M145K AKT3_ENST00000263826.5_Missense_Mutation_p.M145K|AKT3_ENST00000366540.1_Missense_Mutation_p.M145K|AKT3_ENST00000336199.5_Missense_Mutation_p.M145K Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 145 signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) AAAATCATTCATTGTCTGAAA 0.279000 20 15 0 0 1 0 0 GPR31 2853 broad.mit.edu 37 6 167571176 167571176 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:167571176C>A ENST00000366834.1 - 1 641 c.144G>T c.(142-144)ccG>ccT p.P48P NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 48 integral to plasma membrane G-protein coupled receptor activity p.P48P(1) NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AGACAGCGTACGGCTTCCACA 0.652000 20 57 5.49717e-05 5.87545e-05 1 1 0 ACSS3 79611 broad.mit.edu 37 12 81568637 81568637 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:81568637T>G ENST00000548058.1 + 8 2079 c.1169T>G c.(1168-1170)tTg>tGg p.L390W ACSS3_ENST00000261206.3_Missense_Mutation_p.L389W|ACSS3_ENST00000548324.1_Missense_Mutation_p.L72W Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 390 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GTAGCTGCCTTGTTTACAGCA 0.507000 10 40 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34276392 34276392 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:34276392G>A ENST00000373381.4 - 10 1574 c.1398C>T c.(1396-1398)gaC>gaT p.D466D CSMD2_ENST00000338325.1_Silent_p.D23D NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 426 CUB 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGCATTGTTGTCATACTGAA 0.572000 35 111 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 951745 951745 + Missense_Mutation SNP G G A rs143946130 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:951745G>A ENST00000264771.4 + 11 1161 c.976G>A c.(976-978)Gcc>Acc p.A326T TMEM175_ENST00000515740.1_Missense_Mutation_p.A210T|TMEM175_ENST00000508204.1_Missense_Mutation_p.A244T NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 326 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCTGTGGTTCGCCCACCACTC 0.677000 8 48 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55146110 55146110 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:55146110G>C ENST00000396331.1 + 11 1736 c.1379G>C c.(1378-1380)gGg>gCg p.G460A LILRB1_ENST00000396315.1_Missense_Mutation_p.G461A|LILRB1_ENST00000448689.1_Missense_Mutation_p.G460A|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460A|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510A|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444A|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460A|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444A|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461A|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460A NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 460 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) AGGCACCTGGGGGTTGTGATC 0.572000 HNSCC(37;0.09) 17 34 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48543856 48543856 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:48543856T>C ENST00000396577.3 + 15 2046 c.1831T>C c.(1831-1833)Ttt>Ctt p.F611L SLC12A1_ENST00000380993.3_Missense_Mutation_p.F611L|SLC12A1_ENST00000558405.1_Missense_Mutation_p.F611L NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 611 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GGTATCTCTTTTTGGAGCTGT 0.418000 22 38 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42632010 42632010 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:42632010A>C ENST00000318010.8 + 17 2227 c.1987A>C c.(1987-1989)Acc>Ccc p.T663P NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 663 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GGAGGAACACACCCGACTCAT 0.572000 6 81 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155271092 155271092 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:155271092G>A ENST00000342741.4 - 1 133 c.95C>T c.(94-96)cCa>cTa p.P32L NM_000298.5 NP_000289.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 32 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CTTACCTCCTGGAGCCCCAAT 0.502000 38 35 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123545262 123545262 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:123545262C>T ENST00000334268.4 - 38 2283 c.1966G>A c.(1966-1968)Gta>Ata p.V656I TRDN_ENST00000398178.3_Missense_Mutation_p.V664I Q13061 TRDN_HUMAN triadin 664 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GAAGCTGGTACATCTTCAACA 0.323000 16 39 0 0 1 0 0 SERTAD2 9792 broad.mit.edu 37 2 64863928 64863928 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:64863928G>A ENST00000313349.3 - 2 375 c.78C>T c.(76-78)gaC>gaT p.D26D SERTAD2_ENST00000476805.1_5'UTR NM_014755.2 NP_055570.1 Q14140 SRTD2_HUMAN SERTA domain containing 2 26 negative regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleus breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1) 12 TGGATGGACCGTCACAGGGAG 0.493000 66 148 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55874936 55874936 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:55874936T>C ENST00000388975.3 - 8 949 c.833A>G c.(832-834)cAc>cGc p.H278R NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 278 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GAAGTCACAGTGATTTTCATT 0.318000 25 22 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105503749 105503749 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:105503749G>T ENST00000276654.5 - 7 1840 c.1732C>A c.(1732-1734)Ctg>Atg p.L578M LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.L559M NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 578 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCTAGCCTCAGATTTTCCAAA 0.348000 44 33 5.48756e-27 7.73344e-27 1 1 0 MSTO1 55154 broad.mit.edu 37 1 155582079 155582079 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:155582079G>T ENST00000245564.2 + 8 809 c.785G>T c.(784-786)gGc>gTc p.G262V MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.G227V NM_001256532.1|NM_001256533.1|NM_018116.3 NP_001243461.1|NP_001243462.1|NP_060586.2 Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 262 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) ATAACCTGGGGCCTGCTACCT 0.552000 20 52 1.9806e-07 2.20738e-07 1 1 0 FAM65A 79567 broad.mit.edu 37 16 67575783 67575783 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:67575783G>T ENST00000540839.3 + 14 1374 c.1154G>T c.(1153-1155)cGg>cTg p.R385L FAM65A_ENST00000379312.3_Missense_Mutation_p.R369L|FAM65A_ENST00000042381.4_Missense_Mutation_p.R365L|FAM65A_ENST00000422602.2_Missense_Mutation_p.R385L|FAM65A_ENST00000428437.2_Missense_Mutation_p.R379L Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 369 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) ATGCTGCGACGGCAGGAGGAG 0.587000 30 33 1.7881e-09 2.05561e-09 1 1 0 ST5 6764 broad.mit.edu 37 11 8739408 8739408 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:8739408A>G ENST00000534127.1 - 8 1894 c.1509T>C c.(1507-1509)gaT>gaC p.D503D ST5_ENST00000526099.1_Silent_p.D16D|ST5_ENST00000526757.1_Silent_p.D83D|ST5_ENST00000530438.1_Silent_p.D83D|ST5_ENST00000357665.1_Silent_p.D503D|ST5_ENST00000313726.6_Silent_p.D503D|ST5_ENST00000530991.1_5'UTR NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 503 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TTAAGTCCACATCCTCATATG 0.502000 24 17 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214556821 214556821 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:214556821G>A ENST00000366956.5 - 13 2571 c.2377C>T c.(2377-2379)Cgg>Tgg p.R793W PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 793 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGGTCAGTCCGAGACATGCTG 0.632000 20 97 0 0 1 0 0 CCL1 6346 broad.mit.edu 37 17 32688835 32688835 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:32688835T>C ENST00000225842.3 - 2 226 c.157A>G c.(157-159)Acc>Gcc p.T53A NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 53 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) ATGGAGCTGGTATTTCTGTAA 0.493000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 93 136 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71606169 71606169 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:71606169A>G ENST00000265382.3 + 15 1921 c.1616A>G c.(1615-1617)tAt>tGt p.539_539insC PIP5K1B_ENST00000541509.1_Intron NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 0 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CTTGACGTCTATTTAGTAAGT 0.438000 9 35 0 0 1 0 0 LSM1 27257 broad.mit.edu 37 8 38021207 38021207 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:38021207T>C ENST00000311351.4 - 4 778 c.383A>G c.(382-384)gAt>gGt p.D128G RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000520755.1_3'UTR|LSM1_ENST00000522515.1_5'UTR NM_014462.2 NP_055277.1 O15116 LSM1_HUMAN LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae) 128 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions cytosol|nucleus|ribonucleoprotein complex protein binding|RNA binding kidney(2)|large_intestine(3)|lung(2) 7 Colorectal(12;0.000442) ATCAAGAGTATCTGCTCGAGG 0.498000 15 19 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39805044 39805044 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:39805044C>A ENST00000248668.4 - 1 932 c.933G>T c.(931-933)gtG>gtT p.V311V NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 311 Ig-like. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGCCTTCCACCACCAGGGCCC 0.706000 7 12 0.00198382 0.00204836 1 1 0 GLDC 2731 broad.mit.edu 37 9 6587274 6587274 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:6587274A>G ENST00000321612.6 - 15 1867 c.1717T>C c.(1717-1719)Tgg>Cgg p.W573R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 573 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AATTCTTTCCATGTGATAGGC 0.353000 40 16 0 0 1 0 0 AVPR1A 552 broad.mit.edu 37 12 63544027 63544027 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:63544027A>G ENST00000299178.2 - 1 695 c.590T>C c.(589-591)gTc>gCc p.V197A NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 197 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GGCCTTGGTGACATTGTTCAC 0.652000 41 98 0 0 1 0 0 CLINT1 9685 broad.mit.edu 37 5 157218920 157218920 + Nonsense_Mutation SNP C C A rs1803856 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:157218920C>A ENST00000523094.1 - 10 1322 c.1117G>T c.(1117-1119)Gag>Tag p.E373* CLINT1_ENST00000411809.2_Nonsense_Mutation_p.E391*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E373*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E373*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E391* NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 391 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCAAAGAACTCGCCACTGGAA 0.512000 35 25 1.04352e-10 1.23865e-10 1 1 0 ZMAT4 79698 broad.mit.edu 37 8 40532344 40532344 + Silent SNP G G T rs141980582 byFrequency TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:40532344G>T ENST00000297737.6 - 5 602 c.456C>A c.(454-456)gcC>gcA p.A152A ZMAT4_ENST00000315769.7_Intron NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 152 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) TATTAAACCAGGCTGCACAGA 0.507000 64 207 7.75977e-34 1.13293e-33 1 1 0 MUC17 140453 broad.mit.edu 37 7 100681213 100681213 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:100681213G>T ENST00000306151.4 + 3 6580 c.6516G>T c.(6514-6516)gtG>gtT p.V2172V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2172 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACCACAGTGGTGGCCAGTT 0.468000 217 285 3.89567e-114 5.91235e-114 1 1 0 SERPINB6 5269 broad.mit.edu 37 6 2949295 2949295 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:2949295C>A ENST00000380520.1 - 5 2576 c.582G>T c.(580-582)gaG>gaT p.E194D SERPINB6_ENST00000335686.5_Missense_Mutation_p.E194D|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380539.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380524.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380546.3_Missense_Mutation_p.E194D P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 194 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) GCACAGGTTTCTCCTCATTCT 0.408000 13 22 0.00136819 0.0014248 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152638075 152638075 + Nonsense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:152638075A>T ENST00000367255.5 - 87 17220 c.16619T>A c.(16618-16620)tTg>tAg p.L5540* SYNE1_ENST00000356820.4_Nonsense_Mutation_p.L64*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.L5469*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.L5152*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.L5540*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.L5469* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5540 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATCCACTTCAAAATTAATTC 0.353000 HNSCC(10;0.0054) 17 27 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62393502 62393502 + Splice_Site SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:62393502G>T ENST00000371158.2 + 27 3784 c.e27+1 INADL_ENST00000316485.6_Splice_Site NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TTTACCGACCGTGAGTGCCTT 0.383000 20 41 8.10497e-08 9.08853e-08 1 1 0 HLX 3142 broad.mit.edu 37 1 221053746 221053746 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:221053746T>C ENST00000366903.6 + 1 2048 c.547T>C c.(547-549)Tct>Cct p.S183P NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 183 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) CCGCATTTTATCTGCAGAATT 0.602000 76 36 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36841171 36841171 + RNA SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:36841171A>G ENST00000557188.1 + 0 802 CTATGCTAGTATAGACTATAC 0.323000 6 27 0 0 1 0 0 CREB3L3 84699 broad.mit.edu 37 19 4154951 4154951 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:4154951T>C ENST00000078445.2 + 2 230 c.83T>C c.(82-84)cTc>cCc p.L28P CREB3L3_ENST00000595923.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000602257.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000252587.3_Missense_Mutation_p.L19P NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 28 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCTGGATCTCCTGTTTGAC 0.627000 56 115 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48703453 48703453 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:48703453G>C ENST00000316623.5 - 66 8805 c.8350C>G c.(8350-8352)Ctt>Gtt p.L2784V FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2784 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.L2784I(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGAGTTGTAAGAGCTGGAAGG 0.418000 57 88 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86071632 86071632 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:86071632T>C ENST00000377332.3 - 6 1003 c.895A>G c.(895-897)Atc>Gtc p.I299V ST3GAL5_ENST00000393808.3_Missense_Mutation_p.I276V|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.I271V NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 299 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 TGCAGTGGGATTTTTTCTGCC 0.458000 14 96 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86773076 86773076 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:86773076C>T ENST00000373119.4 + 1 325 c.180C>T c.(178-180)aaC>aaT p.N60N KLHL4_ENST00000373114.4_Silent_p.N60N NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 60 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GGGACAGAAACGGACTGAAGA 0.547000 27 12 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238287556 238287556 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:238287556A>G ENST00000295550.4 - 6 2672 c.2220T>C c.(2218-2220)cgT>cgC p.R740R COL6A3_ENST00000392004.3_Silent_p.R534R|COL6A3_ENST00000392003.2_Silent_p.R333R|COL6A3_ENST00000409809.1_Silent_p.R534R|COL6A3_ENST00000347401.3_Silent_p.R539R|COL6A3_ENST00000353578.4_Silent_p.R534R|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 740 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCACGTGTTCACGGATCCTGC 0.607000 25 38 0 0 1 0 0 GNA14 9630 broad.mit.edu 37 9 80046236 80046236 + Splice_Site SNP C C A rs140029377 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:80046236C>A ENST00000341700.6 - 4 1107 c.e4+1 GNA14_ENST00000464095.1_Splice_Site NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 GACAGACTTACCGAAAGATGA 0.478000 45 59 1.61004e-24 2.25591e-24 1 1 0 GRM7 2917 broad.mit.edu 37 3 7348258 7348258 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:7348258T>G ENST00000486284.1 + 4 1226 c.952T>G c.(952-954)Tcc>Gcc p.S318A GRM7_ENST00000389336.4_Missense_Mutation_p.S318A|GRM7_ENST00000357716.4_Missense_Mutation_p.S318A|GRM7_ENST00000403881.1_Missense_Mutation_p.S318A|GRM7_ENST00000402647.2_Missense_Mutation_p.S318A NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 318 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CAGCTGGGGATCCAAAATAAA 0.498000 26 33 0 0 1 0 0 CRHR1 1394 broad.mit.edu 37 17 43893833 43893833 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:43893833G>A ENST00000314537.5 + 3 351 c.126G>A c.(124-126)ctG>ctA p.L42L CRHR1_ENST00000577353.1_Silent_p.L42L|CRHR1_ENST00000398285.3_Silent_p.L42L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Intron|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000339069.5_5'UTR NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 42 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCCCAGGACTGCAGTGCAACG 0.642000 25 29 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100146 168100146 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:168100146G>T ENST00000409195.1 + 9 2333 c.2244G>T c.(2242-2244)tcG>tcT p.S748S XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S748S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S526S|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 573 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAGATGGTTCGGGCCAAATGC 0.383000 24 61 1.55469e-16 2.03028e-16 1 1 0 SYNE2 23224 broad.mit.edu 37 14 64493314 64493314 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:64493314G>T ENST00000358025.3 + 42 6500 c.6270G>T c.(6268-6270)aaG>aaT p.K2090N SYNE2_ENST00000554584.1_Missense_Mutation_p.K2090N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.K2090N NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2090 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTTTGCTGAAGCCTGAAGGGG 0.418000 16 28 1.5739e-10 1.86215e-10 1 1 0 WDR72 256764 broad.mit.edu 37 15 53992035 53992035 + Silent SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:53992035A>C ENST00000396328.1 - 13 1916 c.1677T>G c.(1675-1677)ccT>ccG p.P559P WDR72_ENST00000360509.5_Silent_p.P559P|WDR72_ENST00000559418.1_Silent_p.P569P|WDR72_ENST00000557913.1_Silent_p.P556P NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 559 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TCATCCTCACAGGAAAAAGGT 0.448000 54 158 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9514922 9514922 + Silent SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:9514922A>T ENST00000402466.1 + 21 3672 c.2904A>T c.(2902-2904)gtA>gtT p.V968V SETD5_ENST00000402198.1_Silent_p.V1066V|SETD5_ENST00000302463.6_Silent_p.V968V|SETD5_ENST00000407969.1_Silent_p.V1085V|SETD5_ENST00000406341.1_Silent_p.V1066V Q9C0A6 SETD5_HUMAN SET domain containing 5 1066 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CTTTCTAGGTATCCCTGCTGG 0.448000 18 15 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47205965 47205965 + Translation_Start_Site SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:47205965G>A ENST00000263737.6 + 0 682 TTC7A_ENST00000394850.2_Missense_Mutation_p.G228D|TTC7A_ENST00000409245.1_Missense_Mutation_p.G194D|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000319190.5_Missense_Mutation_p.G228D Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CATCTGAAAGGCTGTCACCCG 0.517000 18 60 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36939917 36939917 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:36939917C>T ENST00000454319.1 - 5 1356 c.1222G>A c.(1222-1224)Gac>Aac p.D408N ZNF566_ENST00000493391.1_Missense_Mutation_p.D303N|ZNF566_ENST00000434377.2_Missense_Mutation_p.D407N|ZNF566_ENST00000424129.2_Missense_Mutation_p.D407N|ZNF566_ENST00000392170.2_Missense_Mutation_p.D408N NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) AGTTGTGGGTCATAATTAAAG 0.333000 6 23 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180041225 180041225 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:180041225C>A ENST00000428443.3 - 4 521 c.205G>T c.(205-207)Ggc>Tgc p.G69C SESTD1_ENST00000486468.1_5'UTR NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 69 CRAL-TRIO. regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) GATTTTCTGCCATCCACAATC 0.348000 10 35 2.17888e-05 2.34599e-05 1 1 0 FAT4 79633 broad.mit.edu 37 4 126336448 126336448 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:126336448A>G ENST00000394329.3 + 5 6343 c.6330A>G c.(6328-6330)ggA>ggG p.G2110G FAT4_ENST00000335110.5_Silent_p.G408G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2110 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGCTCACTGGAGAACTGGACA 0.438000 63 115 0 0 1 0 0 FRMD3 257019 broad.mit.edu 37 9 85905587 85905587 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:85905587T>A ENST00000304195.3 - 13 1332 c.1126A>T c.(1126-1128)Aac>Tac p.N376Y FRMD3_ENST00000376434.1_Missense_Mutation_p.N182Y|FRMD3_ENST00000376438.1_Missense_Mutation_p.N376Y NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 376 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 GGTTCCATGTTAATGATGAGC 0.498000 47 48 0 0 1 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29966184 29966184 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:29966184T>A ENST00000216121.7 - 3 493 c.239A>T c.(238-240)aAg>aTg p.K80M NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) 80 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 GTATTCAGGCTTTACATTGTG 0.532000 11 59 0 0 1 0 0 CASP2 835 broad.mit.edu 37 7 142997027 142997027 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:142997027G>C ENST00000310447.5 + 7 1000 c.759G>C c.(757-759)gaG>gaC p.E253D CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 253 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) AAATGCAAGAGAAACTGCAGA 0.463000 OREG0018400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 64 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102477335 102477335 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:102477335A>C ENST00000260228.2 - 6 896 c.884T>G c.(883-885)cTc>cGc p.L295R MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 295 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GGAGTCACAGAGGTCAGGGAT 0.542000 33 58 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43262174 43262174 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:43262174G>T ENST00000404209.4 - 3 785 c.689C>A c.(688-690)cCa>cAa p.P230Q PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.P230Q|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.P108Q NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 230 Ig-like C2-type 1. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CAGGGTGAATGGGTCACTGCG 0.527000 183 496 8.39465e-107 1.27139e-106 1 1 0 NPAS4 266743 broad.mit.edu 37 11 66192145 66192145 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:66192145G>A ENST00000311034.2 + 7 1960 c.1784G>A c.(1783-1785)cGg>cAg p.R595Q NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 595 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GCCCAGCTCCGGGGCCCCCTC 0.592000 88 126 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45188830 45188830 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:45188830G>C ENST00000279027.4 - 13 1658 c.1640C>G c.(1639-1641)aCa>aGa p.T547R SLC13A3_ENST00000472148.1_Missense_Mutation_p.T465R|SLC13A3_ENST00000495082.1_Missense_Mutation_p.T500R|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T497R|SLC13A3_ENST00000396360.1_Missense_Mutation_p.T465R|SLC13A3_ENST00000435032.1_Missense_Mutation_p.T132R|SLC13A3_ENST00000290317.5_Missense_Mutation_p.T500R NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 547 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CAGGAGGCCTGTCCGCACCTG 0.562000 46 101 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76957857 76957857 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:76957857C>G ENST00000380887.2 + 6 927 c.855C>G c.(853-855)atC>atG p.I285M ESRRB_ENST00000556177.1_Missense_Mutation_p.I285M|ESRRB_ENST00000261532.7_Missense_Mutation_p.I285M|ESRRB_ENST00000509242.1_Missense_Mutation_p.I285M A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 285 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) AAATCCTCATCCTGGGCATCG 0.622000 7 11 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73023941 73023941 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:73023941T>C ENST00000268057.4 + 12 951 c.910T>C c.(910-912)Tgg>Cgg p.W304R BBS4_ENST00000395205.2_Missense_Mutation_p.W312R|BBS4_ENST00000539603.1_Missense_Mutation_p.W292R|BBS4_ENST00000542334.1_Missense_Mutation_p.W132R NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 304 Interaction with PCM1. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 ACCCTTTGATTGGAAGATTCT 0.468000 Bardet-Biedl syndrome 20 110 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43308322 43308322 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:43308322C>G ENST00000328249.3 + 9 1615 c.577C>G c.(577-579)Cta>Gta p.L193V ERMAP_ENST00000372514.3_Missense_Mutation_p.L283V|ERMAP_ENST00000372517.2_Missense_Mutation_p.L283V|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.4_ENST00000414798.1_RNA Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 283 Missing (in Sc-3 allele). integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGTCAGCATCCTAGGCTCTGA 0.498000 72 74 0 0 1 0 0 EIF3E 3646 broad.mit.edu 37 8 109260897 109260897 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:109260897T>G ENST00000220849.5 - 1 97 c.35A>C c.(34-36)cAc>cCc p.H12P EIF3E_ENST00000519030.1_5'UTR NM_001568.2 NP_001559.1 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, subunit E 12 Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) ATCCAAAAAGTGCGCGATGCG 0.517000 62 65 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66871463 66871463 + Silent SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:66871463T>A ENST00000269080.2 - 35 4586 c.4449A>T c.(4447-4449)gcA>gcT p.A1483A ABCA8_ENST00000430352.2_Silent_p.A1523A|ABCA8_ENST00000586539.1_Silent_p.A1523A NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1483 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCTCCACTTGTGCCAGGTTCT 0.488000 33 67 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862348 5862348 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:5862348G>A ENST00000329322.5 - 1 779 c.780C>T c.(778-780)ttC>ttT p.F260F TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.F264F NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTGTGTAAAGAAAGAGAAAA 0.443000 23 20 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21689289 21689289 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:21689289T>A ENST00000398485.2 + 3 1064 c.1010T>A c.(1009-1011)gTg>gAg p.V337E PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.V313E NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 337 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 ACCCCCGCAGTGAATGGGCTA 0.602000 23 60 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141751612 141751612 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:141751612C>A ENST00000389484.3 - 16 3567 c.2596G>T c.(2596-2598)Ggc>Tgc p.G866C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 866 LDL-receptor class A 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCGTCGCCATCACATTTC 0.433000 TSP Lung(27;0.18) 25 73 3.6726e-16 4.75355e-16 1 1 0 GBP5 115362 broad.mit.edu 37 1 89732735 89732735 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:89732735A>G ENST00000343435.5 - 6 1066 c.530T>C c.(529-531)gTg>gCg p.V177A GBP5_ENST00000370459.3_Missense_Mutation_p.V177A|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 177 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) CAGAGTCCACACTAAGTCTGG 0.483000 6 126 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12880894 12880894 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:12880894G>T ENST00000155926.4 + 3 2425 c.1006G>T c.(1006-1008)Gag>Tag p.E336* TRIB2_ENST00000381465.2_Nonsense_Mutation_p.E200* NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 336 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CAACATGGAAGAGAACTTGGA 0.522000 36 62 6.97489e-18 9.19074e-18 1 1 0 WDR17 116966 broad.mit.edu 37 4 177098223 177098223 + Missense_Mutation SNP G G T rs148628975 byFrequency TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:177098223G>T ENST00000393643.2 + 28 3761 c.3509G>T c.(3508-3510)cGt>cTt p.R1170L WDR17_ENST00000508596.1_Missense_Mutation_p.R1155L|WDR17_ENST00000507824.2_Missense_Mutation_p.R1169L|WDR17_ENST00000280190.4_Missense_Mutation_p.R1194L NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1194 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTATTAAAACGTCGGGAGGTG 0.353000 14 16 2.62699e-14 3.28937e-14 1 1 0 TTN 7273 broad.mit.edu 37 2 179434884 179434884 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:179434884C>A ENST00000589042.1 - 326 76199 c.75975G>T c.(75973-75975)tgG>tgT p.W25325C TTN_ENST00000591111.1_Missense_Mutation_p.W23684C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W16260C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W22757C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W16452C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W16385C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23684 Ig-like 124. 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) CTGGTCTTTCCCATACAACAA 0.428000 40 45 4.00102e-26 5.61681e-26 1 1 0 RNF10 9921 broad.mit.edu 37 12 120972711 120972711 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:120972711G>T ENST00000325954.4 + 1 558 c.97G>T c.(97-99)Ggg>Tgg p.G33W RNF10_ENST00000413266.2_Missense_Mutation_p.G33W NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 33 Ser-rich. negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGCAGCAAAGGGCAACAGCC 0.711000 9 23 0.0692343 0.0698081 1 1 0 NYAP2 57624 broad.mit.edu 37 2 226447444 226447444 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:226447444C>A ENST00000272907.6 + 4 1724 c.1311C>A c.(1309-1311)ccC>ccA p.P437P NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 437 Pro-rich. CCACCTCTCCCTCCCCCGTCA 0.642000 27 24 1.42536e-11 1.71137e-11 1 1 0 IGSF5 150084 broad.mit.edu 37 21 41142994 41142994 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr21:41142994T>C ENST00000380588.4 + 4 673 c.570T>C c.(568-570)gtT>gtC p.V190V IGSF5_ENST00000479378.1_3'UTR NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 190 Ig-like V-type 2. integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) ATTATTTTGTTCCGGAGCCCA 0.542000 33 46 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193171890 193171890 + Splice_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:193171890C>A ENST00000342695.4 - 17 2349 c.2027_splice c.e17+1 p.R676_splice ATP13A4_ENST00000392443.3_Splice_Site_p.R657_splice NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 676 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCCCATTTACCTCGTCAAGGT 0.448000 36 50 3.21399e-22 4.44359e-22 1 1 0 LOC100130331 100130331 broad.mit.edu 37 1 238090561 238090561 + RNA SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:238090561C>T ENST00000450451.1 + 0 2067 NR_027247.2 CCCTCTACGCCTCTGGGCGCA 0.592000 58 42 0 0 1 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197415 26197415 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:26197415C>A ENST00000377831.5 - 2 517 c.64G>T c.(64-66)Gcc>Tcc p.A22S HIST1H3D_ENST00000356476.2_Missense_Mutation_p.A22S NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 22 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) GCCTTGGTGGCCAGCTGCTTG 0.622000 53 90 9.57592e-29 1.36266e-28 1 1 0 FER1L6 654463 broad.mit.edu 37 8 125052131 125052131 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:125052131G>A ENST00000522917.1 + 20 2679 c.2473G>A c.(2473-2475)Gtt>Att p.V825I FER1L6_ENST00000399018.1_Missense_Mutation_p.V825I|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 825 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGAACAGCATGTTTTTCAGCT 0.498000 23 134 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88026817 88026817 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:88026817G>T ENST00000307808.6 + 8 1720 c.1300G>T c.(1300-1302)Gac>Tac p.D434Y AFF1_ENST00000544085.1_Missense_Mutation_p.D72Y|AFF1_ENST00000395146.4_Missense_Mutation_p.D441Y NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 434 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) TGACAGTGAGGACAGTGACAG 0.423000 42 60 1.00776e-21 1.38282e-21 1 1 0 TTBK1 84630 broad.mit.edu 37 6 43220480 43220480 + Nonsense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:43220480A>T ENST00000259750.4 + 3 195 c.112A>T c.(112-114)Aaa>Taa p.K38* TTBK1_ENST00000304139.5_5'UTR NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 38 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TTCATAGCTGAAAAAGATCGG 0.587000 32 38 0 0 1 0 0 RASL10B 91608 broad.mit.edu 37 17 34068216 34068216 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:34068216G>A ENST00000268864.3 + 4 881 c.504G>A c.(502-504)ctG>ctA p.L168L NM_033315.3 NP_201572.1 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B 168 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACATCCTGCTGCTCTTCAGCG 0.662000 21 59 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66877284 66877284 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:66877284C>T ENST00000269080.2 - 30 4032 c.3895G>A c.(3895-3897)Gac>Aac p.D1299N ABCA8_ENST00000430352.2_Missense_Mutation_p.D1339N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1339N NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1299 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GGTTTTGTGTCTCCAGTTATC 0.328000 25 32 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66504330 66504330 + Silent SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:66504330A>T ENST00000360242.5 + 2 447 c.330A>T c.(328-330)cgA>cgT p.R110R CCDC102B_ENST00000584156.1_Silent_p.R110R|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Silent_p.R110R|CCDC102B_ENST00000319445.6_Silent_p.R110R NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 110 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GTAAAGTTCGAGCTGAAAGGA 0.463000 38 30 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57983029 57983029 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:57983029G>T ENST00000309433.6 + 1 813 c.813G>T c.(811-813)gtG>gtT p.V271V NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TTGTAGGCGTGTACTTTTTCC 0.483000 30 85 1.08312e-15 1.38715e-15 1 1 0 SLC4A11 83959 broad.mit.edu 37 20 3212001 3212001 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:3212001G>A ENST00000380059.3 - 8 1153 c.1052C>T c.(1051-1053)tCc>tTc p.S351F SLC4A11_ENST00000380056.3_Missense_Mutation_p.S324F|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.S308F NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 324 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GGCAGGGAGGGAGACTGTGCT 0.662000 33 48 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112575275 112575275 + Silent SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:112575275G>C ENST00000230538.7 - 2 475 c.78C>G c.(76-78)tcC>tcG p.S26S RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000431543.2_Silent_p.S26S|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000453937.2_Silent_p.S26S|LAMA4_ENST00000368638.4_Silent_p.S26S|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000424408.2_Silent_p.S26S|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000389463.4_Silent_p.S26S|LAMA4_ENST00000522006.1_Silent_p.S26S NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 26 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGTCGTCCCCGGACGCGGCGC 0.642000 7 18 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368694 22368694 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:22368694C>T ENST00000332663.2 + 1 217 c.119C>T c.(118-120)cCa>cTa p.P40L RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTCATCCTACCAGGAAATATC 0.418000 122 850 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7164499 7164499 + Splice_Site SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:7164499G>A ENST00000320892.6 + 7 951 c.e7-1 RNF144A_ENST00000467276.1_Splice_Site NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) TTCTCCCACAGTGCTGCTTTC 0.572000 50 17 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57132924 57132924 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:57132924C>T ENST00000328070.6 + 3 503 c.269C>T c.(268-270)cCa>cTa p.P90L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 90 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GTCCTGGTCCCACCACGGCTG 0.587000 13 41 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542810 14542810 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:14542810G>T ENST00000358970.5 - 1 335 c.336C>A c.(334-336)agC>agA p.S112R POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 112 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGCTCTTGCCGCTCCCCCTGC 0.592000 124 386 2.20786e-56 3.31633e-56 1 1 0 TXNDC2 84203 broad.mit.edu 37 18 9887577 9887577 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:9887577C>T ENST00000306084.6 + 2 1300 c.1101C>T c.(1099-1101)atC>atT p.I367I TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I300I NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 367 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AAGAAGCCATCCAGCCCAAGG 0.567000 143 134 0 0 1 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139730 142139730 + RNA SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:142139730A>G ENST00000390374.3 - 0 85 ACCTGTCCCTAGGAAACCCAG 0.527000 34 57 0 0 1 0 0 ADSS 159 broad.mit.edu 37 1 244587320 244587320 + Silent SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:244587320G>C ENST00000366535.3 - 6 832 c.516C>G c.(514-516)tcC>tcG p.S172S ADSS_ENST00000462358.1_5'UTR NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 172 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) GAGCAGCTTTGGACGAATAAA 0.418000 13 41 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40565639 40565639 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:40565639A>G ENST00000455577.2 + 8 2495 c.1583A>G c.(1582-1584)aAg>aGg p.K528R RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.K528R|PAK6_ENST00000453867.1_Missense_Mutation_p.K528R|PAK6_ENST00000542403.2_Missense_Mutation_p.K528R|PAK6_ENST00000260404.4_Missense_Mutation_p.K528R|PAK6_ENST00000441369.1_Missense_Mutation_p.K528R NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 528 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CGGGACATCAAGAGTGACTCC 0.607000 18 40 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24942235 24942235 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:24942235C>T ENST00000289968.6 - 19 2454 c.2385G>A c.(2383-2385)ccG>ccA p.P795P ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.P717P NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 795 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GTCTCGGTCTCGGTAAGGTTC 0.622000 4 181 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143632975 143632975 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:143632975C>A ENST00000408955.2 + 1 717 c.650C>A c.(649-651)tCc>tAc p.S217Y NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) GTTCTGTTGTCCTACATCCGG 0.527000 23 52 3.6726e-16 4.75355e-16 1 1 0 LRIT2 340745 broad.mit.edu 37 10 85984195 85984195 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:85984195G>T ENST00000372113.4 - 2 791 c.786C>A c.(784-786)atC>atA p.I262I LRIT2_ENST00000538192.1_Silent_p.I262I NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 262 Ig-like. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 CCCGGATGGTGATATTGGCAC 0.532000 34 33 1.45844e-13 1.79841e-13 1 1 0 ENTPD1 953 broad.mit.edu 37 10 97625949 97625949 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:97625949G>C ENST00000371203.5 + 9 1515 c.928G>C c.(928-930)Gcc>Ccc p.A310P ENTPD1_ENST00000539125.1_Missense_Mutation_p.A310P|ENTPD1_ENST00000453258.2_Missense_Mutation_p.A455P|ENTPD1_ENST00000371205.4_Missense_Mutation_p.A448P|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.A460P|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000543964.1_Missense_Mutation_p.A340P NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 448 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) GGGCAGCGACGCCGGCTGGAC 0.502000 9 4 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155278469 155278469 + Nonsense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:155278469A>C ENST00000357232.3 - 6 701 c.702T>G c.(700-702)taT>taG p.Y234* DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 234 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) cctctggactatagagtccta 0.423000 19 29 0 0 1 0 0 OR52N4 390072 broad.mit.edu 37 11 5776890 5776890 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:5776890T>G ENST00000317254.3 + 1 968 c.920T>G c.(919-921)aTa>aGa p.I307R TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) GACTGTGTCATAAGGATCCTT 0.418000 40 32 0 0 1 0 0 PEX5 5830 broad.mit.edu 37 12 7361164 7361164 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:7361164G>A ENST00000266563.5 + 12 1365 c.1182G>A c.(1180-1182)cgG>cgA p.R394R PEX5_ENST00000434354.2_Silent_p.R446R|PEX5_ENST00000455147.2_Silent_p.R431R|PEX5_ENST00000420616.2_Silent_p.R431R|PEX5_ENST00000412720.2_Silent_p.R452R|PEX5_ENST00000266564.3_Silent_p.R423R NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 431 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 ACTGGCTGCGGTACACACCAG 0.592000 48 78 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176675185 176675185 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:176675185G>T ENST00000439151.2 + 11 4546 c.4501G>T c.(4501-4503)Gaa>Taa p.E1501* NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1232*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1398*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1232* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1501 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TTGCAAGGGAGAACTAATGCC 0.483000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 24 15 2.44723e-14 3.06955e-14 1 1 0 MYO7A 4647 broad.mit.edu 37 11 76890166 76890166 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:76890166C>G ENST00000409709.3 + 20 2630 c.2358C>G c.(2356-2358)aaC>aaG p.N786K MYO7A_ENST00000458637.2_Missense_Mutation_p.N786K|MYO7A_ENST00000409893.1_Missense_Mutation_p.N786K|MYO7A_ENST00000409619.2_Missense_Mutation_p.N775K NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 786 IQ 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GTAGGAAGAACTACGGGCTGG 0.597000 6 9 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133760654 133760654 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:133760654G>C ENST00000318560.5 + 11 3358 c.2977G>C c.(2977-2979)Gca>Cca p.A993P NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 993 F-actin-binding.|Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CTCGGCCCTGGCAGGGGACCA 0.672000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 45 36 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73164080 73164080 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:73164080T>A ENST00000286657.4 - 18 2540 c.2504A>T c.(2503-2505)aAc>aTc p.N835I NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 835 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATTGTTGCTGTTGATTGTAGG 0.403000 53 86 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82834903 82834903 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:82834903C>T ENST00000265077.3 + 8 6646 c.6081C>T c.(6079-6081)ccC>ccT p.P2027P VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.P1040P|VCAN_ENST00000342785.4_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2027 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGTGCTTCCCAGTGCTGTGC 0.488000 31 19 0 0 1 0 0 PON3 5446 broad.mit.edu 37 7 94993271 94993271 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:94993271C>G ENST00000265627.5 - 6 609 c.599G>C c.(598-600)cGc>cCc p.R200P PON3_ENST00000427422.1_Missense_Mutation_p.R200P|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) ATAAGTCCAGCGAAGATCCAA 0.443000 56 175 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060409 12060409 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:12060409C>G ENST00000482090.1 + 3 1934 c.1516C>G c.(1516-1518)Caa>Gaa p.Q506E CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q524E|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 CAAGTCATTTCAAACACATGA 0.373000 33 68 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906825 164906825 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:164906825C>T ENST00000475390.1 - 2 2237 c.1794G>A c.(1792-1794)acG>acA p.T598T SLITRK3_ENST00000241274.3_Silent_p.T598T O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 598 LRRCT 2. integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CATCACGGTGCGTGAGGTTCT 0.552000 HNSCC(40;0.11) 48 42 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70460339 70460339 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:70460339G>T ENST00000503640.1 - 5 1215 c.1160C>A c.(1159-1161)cCt>cAt p.P387H UGT2A1_ENST00000512704.1_Missense_Mutation_p.P343H|UGT2A2_ENST00000457664.2_Missense_Mutation_p.P396H|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P553H|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P387H NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 387 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TCCCACCATAGGGACTCCGTG 0.448000 30 54 2.12542e-12 2.58162e-12 1 1 0 FLG2 388698 broad.mit.edu 37 1 152327245 152327245 + Nonsense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:152327245G>C ENST00000388718.5 - 3 3089 c.3017C>G c.(3016-3018)tCa>tGa p.S1006* FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1006 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTGACTTGAGCCAGAACC 0.483000 203 259 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336742 126336742 + Silent SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:126336742A>T ENST00000394329.3 + 5 6637 c.6624A>T c.(6622-6624)acA>acT p.T2208T FAT4_ENST00000335110.5_Silent_p.T506T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2208 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACTCTGTCACAGGTGCCATCA 0.458000 46 116 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108417604 108417604 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:108417604C>A ENST00000370056.4 - 2 514 c.240G>T c.(238-240)acG>acT p.T80T VAV3_ENST00000371846.4_Silent_p.T15T|VAV3_ENST00000527011.1_Silent_p.T80T NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 80 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CACAACAGGCCGTGAGAAATG 0.368000 11 56 3.86212e-05 4.13394e-05 1 1 0 DNMBP 23268 broad.mit.edu 37 10 101715869 101715869 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:101715869T>A ENST00000342239.3 - 4 1453 c.1362A>T c.(1360-1362)agA>agT p.R454S DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.R454S Q6XZF7 DNMBP_HUMAN dynamin binding protein 454 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TGGCATAGTCTCTAGTCCTTG 0.493000 77 52 0 0 1 0 0 SLC39A14 23516 broad.mit.edu 37 8 22273316 22273316 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:22273316C>T ENST00000381237.1 + 6 904 c.785C>T c.(784-786)tCg>tTg p.S262L SLC39A14_ENST00000240095.6_Missense_Mutation_p.S262L|SLC39A14_ENST00000289952.5_Missense_Mutation_p.S262L|SLC39A14_ENST00000359741.5_Missense_Mutation_p.S262L NM_001128431.2 NP_001121903.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 262 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) GCCTCTGAGTCGCTTCCCTCC 0.552000 8 39 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20876489 20876489 + RNA SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:20876489G>T ENST00000556948.1 - 0 111 AACAAAATATGATCACAAAGC 0.328000 20 87 3.62473e-10 4.22018e-10 1 1 0 TRAF6 7189 broad.mit.edu 37 11 36520173 36520173 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:36520173C>T ENST00000526995.1 - 3 560 c.314G>A c.(313-315)tGt>tAt p.C105Y TRAF6_ENST00000348124.5_Missense_Mutation_p.C105Y NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 105 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) GTCAACTGGACATTTGTGACC 0.323000 20 16 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179529260 179529260 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:179529260C>T ENST00000589042.1 - 168 36431 c.36207G>A c.(36205-36207)ccG>ccA p.P12069P TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10216 Ig-like 80. 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) TGAGAGCCTCCGGCACTTTGA 0.383000 75 77 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47548131 47548131 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:47548131C>T ENST00000334194.3 + 4 493 c.490C>T c.(490-492)Ctg>Ttg p.L164L NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 164 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 TCGGATGATGCTGGTAAGAGG 0.473000 38 42 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7629799 7629799 + Silent SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:7629799G>C ENST00000340209.4 + 3 603 c.306G>C c.(304-306)ccG>ccC p.P102P RBFOX1_ENST00000552089.1_Silent_p.P132P|RBFOX1_ENST00000311745.5_Silent_p.P117P|RBFOX1_ENST00000550418.1_Silent_p.P97P|RBFOX1_ENST00000422070.4_Silent_p.P140P|RBFOX1_ENST00000547338.1_Silent_p.P97P|RBFOX1_ENST00000436368.2_Silent_p.P117P|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Silent_p.P117P|RBFOX1_ENST00000553186.1_Silent_p.P97P|RBFOX1_ENST00000547372.1_Silent_p.P140P Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 97 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ACGCAGCACCGACGGATGGCC 0.522000 36 82 0 0 1 0 0 TXNRD2 10587 broad.mit.edu 37 22 19868178 19868178 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:19868178G>A ENST00000535882.1 - 13 1145 c.1146C>T c.(1144-1146)ttC>ttT p.F382F TXNRD2_ENST00000542719.1_Silent_p.F353F|TXNRD2_ENST00000400525.1_Silent_p.F360F|TXNRD2_ENST00000400518.1_Silent_p.F353F|TXNRD2_ENST00000400521.1_Silent_p.F383F|TXNRD2_ENST00000400519.1_Silent_p.F382F Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 383 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) AGGACCCGCCGAAGAGCCGCT 0.627000 3 40 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18725278 18725278 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:18725278C>T ENST00000440756.2 - 4 1642 c.1540G>A c.(1540-1542)Gtg>Atg p.V514M PSD3_ENST00000523619.1_Missense_Mutation_p.V449M|PSD3_ENST00000327040.8_Missense_Mutation_p.V514M Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 514 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TAGCCCATCACGATGCCACCA 0.517000 65 85 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117004 20117004 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:20117004C>G ENST00000397165.2 - 4 1467 c.1307G>C c.(1306-1308)cGg>cCg p.R436P ZNF682_ENST00000397162.1_Missense_Mutation_p.R404P|ZNF682_ENST00000358523.5_Missense_Mutation_p.R404P|ZNF682_ENST00000597972.1_Missense_Mutation_p.R442P|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.R360P NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 GTGTGAGCACCGATTAAAGGC 0.388000 28 68 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211308 38211308 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:38211308C>T ENST00000379705.3 - 11 3523 c.2666G>A c.(2665-2667)cGa>cAa p.R889Q TRPC4_ENST00000358477.2_Missense_Mutation_p.R805Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.R716Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716Q|TRPC4_ENST00000426868.2_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 889 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AGCTAATCCTCGAGATTCCAG 0.468000 4 84 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62935925 62935925 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:62935925C>T ENST00000514591.1 + 25 4038 c.3709C>T c.(3709-3711)Ctg>Ttg p.L1237L LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000506746.1_Silent_p.L1339L|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.L1348L|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000507625.1_Silent_p.L1296L|LPHN3_ENST00000508946.1_Silent_p.L1280L|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000514996.1_Silent_p.L1271L|LPHN3_ENST00000545650.1_Silent_p.L1237L|LPHN3_ENST00000512091.1_3'UTR Q9HAR2 LPHN3_HUMAN latrophilin 3 1215 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CGGCGAATACCTGAGCAACTG 0.463000 18 23 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86415962 86415962 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:86415962T>C ENST00000361669.2 + 3 1953 c.854T>C c.(853-855)aTt>aCt p.I285T AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.I283T|GRM3_ENST00000439827.1_Missense_Mutation_p.I285T|GRM3_ENST00000536043.1_Missense_Mutation_p.I157T|GRM3_ENST00000546348.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 285 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CGGGAGCTCATTGCAGCCGCC 0.652000 37 43 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42292378 42292378 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:42292378G>T ENST00000399518.3 - 8 1262 c.776C>A c.(775-777)gCt>gAt p.A259D PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A230D NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 252 phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) GAAGCAGGCAGCGGTTTGGAA 0.602000 6 7 0.0215528 0.0218218 1 1 0 ZNF804B 219578 broad.mit.edu 37 7 88964093 88964093 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:88964093G>A ENST00000333190.4 + 4 2406 c.1797G>A c.(1795-1797)gaG>gaA p.E599E NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 599 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATAGTAGTGAGAACAAACTTA 0.383000 HNSCC(36;0.09) 24 35 0 0 1 0 0 PAGE3 139793 broad.mit.edu 37 X 55287042 55287042 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:55287042C>A ENST00000374951.1 - 4 552 c.244G>T c.(244-246)Ggt>Tgt p.G82C PAGE3_ENST00000519203.1_Missense_Mutation_p.G82C P antigen family, member 3 (prostate associated) endometrium(1)|kidney(1)|lung(1) 3 CCACGTTCACCCCCAGTCTTT 0.378000 11 8 3.86212e-05 4.13394e-05 1 1 0 TP53 7157 broad.mit.edu 37 17 7577610 7577610 + Splice_Site SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:7577610T>A ENST00000420246.2 - 7 805 c.e7-2 TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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) AGAGCCAACCTAGGAGATAAC 0.522000 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) 86 19 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913225 143913225 + Splice_Site SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:143913225G>C ENST00000409869.1 + 3 342 c.e3+1 ARHGAP15_ENST00000295095.6_Splice_Site Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) CACTGAACCTGTAAGTCAAAT 0.383000 19 43 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147113786 147113786 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:147113786G>T ENST00000383075.3 - 3 1053 c.541C>A c.(541-543)Cag>Aag p.Q181K ZIC4_ENST00000525172.2_Missense_Mutation_p.Q231K|ZIC4_ENST00000484399.1_Missense_Mutation_p.Q181K|ZIC4_ENST00000473123.1_Missense_Mutation_p.Q181K|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.Q219K NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 181 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GGCTTTCCCTGGCGCGGACAC 0.592000 101 155 1.2656e-43 1.88165e-43 1 1 0 SHPRH 257218 broad.mit.edu 37 6 146268684 146268684 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:146268684A>G ENST00000367503.3 - 6 1555 c.1157T>C c.(1156-1158)cTg>cCg p.L386P SHPRH_ENST00000367505.2_Missense_Mutation_p.L386P|SHPRH_ENST00000275233.7_Missense_Mutation_p.L386P|SHPRH_ENST00000438092.2_Missense_Mutation_p.L386P NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 386 Helicase ATP-binding; first part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGTCAGAATCAGAGCCAAAAC 0.483000 41 64 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53663740 53663740 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:53663740G>A ENST00000257934.4 + 3 1105 c.1014G>A c.(1012-1014)gaG>gaA p.E338E ESPL1_ENST00000552462.1_Silent_p.E338E NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 338 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CATTGTATGAGAGCTGCCAGT 0.537000 15 49 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27875113 27875113 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:27875113G>C ENST00000374011.2 - 6 4482 c.3514C>G c.(3514-3516)Cag>Gag p.Q1172E AHDC1_ENST00000247087.5_Missense_Mutation_p.Q1172E|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1172 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TGATTGAACTGGGTGCTGTCG 0.597000 20 77 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835613 247835613 + Missense_Mutation SNP A A T rs139644316 by1000genomes TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:247835613A>T ENST00000359688.2 - 1 752 c.731T>A c.(730-732)gTg>gAg p.V244E RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGGGTCACCACTGTGAGATG 0.448000 43 81 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33156797 33156797 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:33156797G>C ENST00000341947.2 - 3 628 c.401C>G c.(400-402)cCc>cGc p.P134R COL11A2_ENST00000357486.1_Missense_Mutation_p.P134R|COL11A2_ENST00000361917.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374708.4_Missense_Mutation_p.P134R|COL11A2_ENST00000374713.1_Missense_Mutation_p.P134R|COL11A2_ENST00000395197.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374714.1_Missense_Mutation_p.P134R|COL11A2_ENST00000395194.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374712.1_Missense_Mutation_p.P134R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 134 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGGCTGAGAGGGAGGTTGAGG 0.612000 55 149 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058149 56058149 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:56058149A>G ENST00000313022.2 - 1 417 c.390T>C c.(388-390)cgT>cgC p.R130R NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 130 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) TAACTGGGTAACGTAGAGGAC 0.443000 8 108 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512662 248512662 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:248512662A>G ENST00000317861.1 + 1 586 c.586A>G c.(586-588)Atg>Gtg p.M196V NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CAATGAGGTCATGATTGTTGT 0.498000 33 75 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96021458 96021458 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:96021458T>C ENST00000297954.4 + 11 2628 c.2628T>C c.(2626-2628)atT>atC p.I876I WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.I488I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.I876I|WNK2_ENST00000349097.3_Silent_p.I488I Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 876 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GCCGGACCATTGTGCCAAATG 0.706000 25 31 0 0 1 0 0 IFIT1 3434 broad.mit.edu 37 10 91163206 91163206 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:91163206A>G ENST00000546318.1 + 2 2368 c.1081A>G c.(1081-1083)Aag>Gag p.K361E IFIT1_ENST00000371804.3_Missense_Mutation_p.K392E|LIPA_ENST00000371837.1_Intron NM_001270928.1|NM_001270929.1|NM_001270930.1 NP_001257857.1|NP_001257858.1|NP_001257859.1 P09914 IFIT1_HUMAN interferon-induced protein with tetratricopeptide repeats 1 392 cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway cytoplasm protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 15 GGAATTTCAAAAGAAATCTGA 0.308000 22 17 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058167 56058167 + Silent SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:56058167A>C ENST00000313022.2 - 1 399 c.372T>G c.(370-372)gcT>gcG p.A124A NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 124 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) GACTGCAGATAGCTACGTAGC 0.448000 8 121 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080707 194080707 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:194080707G>C ENST00000347624.3 - 2 1151 c.1066C>G c.(1066-1068)Ctg>Gtg p.L356V LRRC15_ENST00000428839.1_Missense_Mutation_p.L362V|LRRC15_ENST00000439944.2_Missense_Mutation_p.L362V NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 356 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TTCCCGTCCAGGTCCTGCAGT 0.577000 37 55 0 0 1 0 0 AEBP1 165 broad.mit.edu 37 7 44147650 44147650 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:44147650G>T ENST00000223357.3 + 6 1212 c.907G>T c.(907-909)Ggt>Tgt p.G303C NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 303 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 CCCTGACTATGGTGATGGTTA 0.652000 8 3 1.12685e-05 1.22593e-05 1 1 0 NALCN 259232 broad.mit.edu 37 13 101997662 101997662 + Nonsense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:101997662C>A ENST00000251127.6 - 7 835 c.754G>T c.(754-756)Gga>Tga p.G252* NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.G252* NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 252 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTGCTAAGTCCCAGATCTTCA 0.428000 39 81 1.30091e-30 1.87681e-30 1 1 0 ROS1 6098 broad.mit.edu 37 6 117718215 117718215 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:117718215G>T ENST00000368508.3 - 7 840 c.642C>A c.(640-642)agC>agA p.S214R GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S223R NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 214 Fibronectin type-III 2. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTGGATCCCAGCTGACTTCCA 0.423000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 44 71 9.9998e-32 1.44552e-31 1 1 0 ABHD12 26090 broad.mit.edu 37 20 25300923 25300923 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:25300923C>A ENST00000339157.5 - 4 726 c.454G>T c.(454-456)Gcc>Tcc p.A152S ABHD12_ENST00000376542.3_Missense_Mutation_p.A152S NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 152 integral to membrane acylglycerol lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 TTGCCTTGGGCGTTCTTCCAC 0.582000 18 39 5.35267e-07 5.93837e-07 1 1 0 LCA5 167691 broad.mit.edu 37 6 80198927 80198927 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:80198927G>C ENST00000392959.1 - 8 1716 c.1105C>G c.(1105-1107)Caa>Gaa p.Q369E LCA5_ENST00000467898.2_Missense_Mutation_p.Q369E|LCA5_ENST00000369846.4_Missense_Mutation_p.Q369E NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 369 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TTTTGAGATTGCAAGTCCTAT 0.348000 16 41 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73181874 73181874 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:73181874G>T ENST00000545377.1 + 25 3431 c.3255G>T c.(3253-3255)agG>agT p.R1085S ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R772S|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.R49S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.R1085S NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GTGAAGAAAGGACTCTGTTAT 0.388000 27 20 2.44723e-14 3.06955e-14 1 1 0 SERBP1 26135 broad.mit.edu 37 1 67880980 67880980 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:67880980G>C ENST00000370994.4 - 7 1090 c.976C>G c.(976-978)Cca>Gca p.P326A SERBP1_ENST00000361219.6_Missense_Mutation_p.P332A|SERBP1_ENST00000370990.5_Missense_Mutation_p.P341A|SERBP1_ENST00000370995.2_Missense_Mutation_p.P347A NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 347 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 TCATTTGCTGGCTTCCGGAAA 0.468000 41 62 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78150894 78150894 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:78150894T>C ENST00000354212.4 - 4 860 c.607A>G c.(607-609)Ata>Gta p.I203V MAGI2_ENST00000535697.1_Missense_Mutation_p.I40V|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000522391.1_Missense_Mutation_p.I203V|MAGI2_ENST00000419488.1_Missense_Mutation_p.I203V|MAGI2_ENST00000536571.1_Missense_Mutation_p.I35V NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 203 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CCTGGAAGTATCTGGTCTGTT 0.448000 51 204 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102464297 102464297 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:102464297G>T ENST00000260228.2 - 8 1132 c.1120C>A c.(1120-1122)Caa>Aaa p.Q374K NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 374 Hemopexin-like 2. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) CCTTGCATTTGGAATCCTCTT 0.443000 28 57 1.32181e-22 1.83445e-22 1 1 0 FRY 10129 broad.mit.edu 37 13 32813404 32813404 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:32813404T>A ENST00000380250.3 + 45 6930 c.6434T>A c.(6433-6435)gTc>gAc p.V2145D NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2145 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCACTGAATGTCTTGTGTCTC 0.393000 38 37 0 0 1 0 0 OR10H1 26539 broad.mit.edu 37 19 15918704 15918704 + Silent SNP G G A rs142314142 byFrequency TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:15918704G>A ENST00000334920.2 - 1 232 c.144C>T c.(142-144)acC>acT p.T48T NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 CGCTCCAGACGGTGGCCATGA 0.617000 49 101 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30791878 30791878 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:30791878T>A ENST00000383096.3 - 20 2402 c.2220A>T c.(2218-2220)aaA>aaT p.K740N CCDC178_ENST00000403303.1_Missense_Mutation_p.K740N|CCDC178_ENST00000579947.1_Missense_Mutation_p.K740N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.K740N|CCDC178_ENST00000402325.1_Missense_Mutation_p.K740N|CCDC178_ENST00000583930.1_Missense_Mutation_p.K740N|CCDC178_ENST00000300227.8_Missense_Mutation_p.K702N coiled-coil domain containing 178 CTTGAAGAGTTTTTTGTCTTA 0.323000 18 14 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798824 55798824 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:55798824T>C ENST00000313555.1 + 1 930 c.930T>C c.(928-930)taT>taC p.Y310Y NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 310 Y -> C (in dbSNP:rs17600939). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GAATTGGATATTCAAATGAAT 0.279000 23 37 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32265700 32265700 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:32265700C>T ENST00000360482.2 - 5 1774 c.1645G>A c.(1645-1647)Ggt>Agt p.G549S SPOCD1_ENST00000373648.2_Missense_Mutation_p.G490S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G42S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G549S NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 549 G -> D (in Ref. 1; BAC04981). transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GAGAGGCCACCAGGGTCCCCT 0.622000 11 20 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86479803 86479803 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:86479803C>A ENST00000361669.2 + 5 3608 c.2509C>A c.(2509-2511)Cac>Aac p.H837N GRM3_ENST00000394720.2_Missense_Mutation_p.T479K|GRM3_ENST00000439827.1_Missense_Mutation_p.T481K|GRM3_ENST00000536043.1_Missense_Mutation_p.H709N|GRM3_ENST00000546348.1_Missense_Mutation_p.H429N NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 837 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGTTGTCACACACAGACTGCA 0.478000 15 63 0.000308642 0.000325121 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34962224 34962224 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:34962224G>T ENST00000329357.5 + 1 1312 c.1276G>T c.(1276-1278)Gag>Tag p.E426* NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 426 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCTCTGCCCGGAGCCTACCAA 0.547000 39 20 1.58521e-26 2.22967e-26 1 1 0 COL4A3 1285 broad.mit.edu 37 2 228104886 228104886 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:228104886G>A ENST00000396578.3 + 3 334 c.172G>A c.(172-174)Ggt>Agt p.G58S AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 58 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TGGACCCCCCGGTTCTCCTGG 0.522000 3 10 0 0 1 0 0 YAF2 10138 broad.mit.edu 37 12 42554626 42554626 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:42554626G>C ENST00000327791.4 - 5 303 c.236C>G c.(235-237)cCa>cGa p.P79R YAF2_ENST00000380788.3_Missense_Mutation_p.P94R|YAF2_ENST00000534854.2_Missense_Mutation_p.P103R|YAF2_ENST00000380790.4_Missense_Mutation_p.P61R|YAF2_ENST00000442791.3_Missense_Mutation_p.P127R Q8IY57 YAF2_HUMAN YY1 associated factor 2 103 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1) 8 all_cancers(12;0.000425) Lung NSC(34;0.0402)|all_lung(34;0.057) GBM - Glioblastoma multiforme(48;0.0514) TTTCAATCTTGGCCTAAACAT 0.308000 6 24 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84027932 84027932 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:84027932G>C ENST00000280241.8 - 1 256 c.257C>G c.(256-258)aCc>aGc p.T86S DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.T86S|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTTGCCCTTGGTGCTCGTCTT 0.577000 28 47 0 0 1 0 0 KCNE4 23704 broad.mit.edu 37 2 223917882 223917882 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:223917882G>C ENST00000281830.3 + 2 818 c.487G>C c.(487-489)Gcg>Ccg p.A163P KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A112P Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related family, member 4 112 integral to membrane voltage-gated potassium channel activity large_intestine(2)|lung(5)|ovary(2)|skin(1) 10 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) CGTGGCGCCCGCGCTGTCCTG 0.672000 16 61 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150501523 150501523 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:150501523T>A ENST00000484928.1 + 6 1210 c.629T>A c.(628-630)cTg>cAg p.L210Q TMEM176A_ENST00000004103.3_Missense_Mutation_p.L210Q|TMEM176A_ENST00000461345.1_Missense_Mutation_p.L151Q Q96HP8 T176A_HUMAN transmembrane protein 176A 210 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGACCCCTCTGTGGCTGTAC 0.552000 40 54 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919539 4919539 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:4919539A>G ENST00000433855.1 + 1 1198 c.332A>G c.(331-333)aAc>aGc p.N111S KCNA6_ENST00000280684.3_Missense_Mutation_p.N111S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 111 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 AGGCCGGTCAACGTGCCCCTG 0.662000 HNSCC(72;0.22) 38 90 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95669349 95669349 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:95669349G>T ENST00000298912.4 - 9 2450 c.2337C>A c.(2335-2337)agC>agA p.S779R NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 779 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) AACTGGAGCTGCTCTGAGAGC 0.587000 24 16 1.96895e-08 2.22153e-08 1 1 0 SCN7A 6332 broad.mit.edu 37 2 167273409 167273409 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:167273409G>T ENST00000409855.1 - 20 3348 c.3222C>A c.(3220-3222)atC>atA p.I1074I NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1074 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CTACTCCCATGATACTAAAAA 0.398000 12 17 0.00185496 0.0019262 1 1 0 NPTX2 4885 broad.mit.edu 37 7 98256641 98256641 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:98256641C>A ENST00000265634.3 + 4 1218 c.1053C>A c.(1051-1053)atC>atA p.I351I NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 351 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCGTGCTGATCCTTGGACAAG 0.672000 4 41 0.00909568 0.00923484 1 1 0 PMEPA1 56937 broad.mit.edu 37 20 56234686 56234686 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:56234686C>A ENST00000341744.3 - 2 496 c.177G>T c.(175-177)acG>acT p.T59T PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000395814.1_Silent_p.T9T|PMEPA1_ENST00000265626.4_Silent_p.T9T|PMEPA1_ENST00000347215.4_Silent_p.T24T|PMEPA1_ENST00000395816.3_Silent_p.T9T NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 59 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding p.T59T(1) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 TCAGCAGGCACGTGatcacca 0.582000 11 19 4.84862e-15 6.17712e-15 1 1 0 MFNG 4242 broad.mit.edu 37 22 37882099 37882099 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:37882099G>T ENST00000356998.3 - 1 340 c.117C>A c.(115-117)ccC>ccA p.P39P MFNG_ENST00000416983.3_Silent_p.P39P NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 39 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) GGCTCAGCTCGGGGGTCCCTT 0.662000 19 25 1.96292e-10 2.30375e-10 1 1 0 COPA 1314 broad.mit.edu 37 1 160276193 160276193 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:160276193G>A ENST00000241704.7 - 15 1622 c.1393C>T c.(1393-1395)Ctg>Ttg p.L465L COPA_ENST00000368069.3_Silent_p.L465L NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 465 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTCGAAGCAGGAGATTGCCT 0.488000 38 126 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70541742 70541742 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:70541742G>T ENST00000260128.4 + 19 2829 c.2112G>T c.(2110-2112)gaG>gaT p.E704D SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E704D|SULF1_ENST00000419716.3_Missense_Mutation_p.E704D|SULF1_ENST00000458141.2_Missense_Mutation_p.E704D NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 704 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GGAACAGGGAGGCTGCTCAGG 0.453000 12 43 1.5842e-08 1.79576e-08 1 1 0 PROC 5624 broad.mit.edu 37 2 128186316 128186316 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:128186316C>A ENST00000453608.2 + 8 1353 c.1345C>A c.(1345-1347)Cgg>Agg p.R449R PROC_ENST00000422777.3_Silent_p.R394R|PROC_ENST00000234071.3_Silent_p.R394R|PROC_ENST00000409048.1_Silent_p.R428R P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 394 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) CCTCGGGGACCGGCAGGATGC 0.637000 64 127 1.20869e-33 1.75766e-33 1 1 0 ATP9A 10079 broad.mit.edu 37 20 50244148 50244148 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:50244148C>T ENST00000338821.5 - 17 2100 c.1836G>A c.(1834-1836)caG>caA p.Q612Q ATP9A_ENST00000402822.1_Silent_p.Q491Q|ATP9A_ENST00000311637.5_Silent_p.Q476Q NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 612 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CTTCAAAGTCCTGATACTGCT 0.547000 149 249 0 0 1 0 0 CFAP54 144535 broad.mit.edu 37 12 97133811 97133811 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:97133811C>T ENST00000524981.3 + 18 2396 c.2396C>T c.(2395-2397)aCa>aTa p.T799I Q6ZTY8 CL063_HUMAN 773 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 CAGGATGACACAGAGAATCCT 0.323000 13 21 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33218463 33218463 + Splice_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:33218463C>A ENST00000334528.9 - 6 2469 c.e6-1 FMN1_ENST00000559047.1_Splice_Site|FMN1_ENST00000561249.1_Splice_Site NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) ATTTGATGATCTAAAATTAGA 0.313000 5 12 8.12818e-05 8.63694e-05 1 1 0 SPTSSB 165679 broad.mit.edu 37 3 161064099 161064099 + Missense_Mutation SNP G G C rs144350794 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:161064099G>C ENST00000359175.4 - 3 1583 c.13C>G c.(13-15)Cgt>Ggt p.R5G SPTSSB_ENST00000497137.1_Missense_Mutation_p.R5G NM_001040100.1 NP_001035189.1 Q8NFR3 SSPTB_HUMAN serine palmitoyltransferase, small subunit B 5 sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding TCCTTCACACGCCTCAAATCC 0.408000 35 30 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555531 182555531 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:182555531C>T ENST00000367559.3 - 2 664 c.411G>A c.(409-411)aaG>aaA p.K137K RNASEL_ENST00000539397.1_Silent_p.K137K|RNASEL_ENST00000444138.1_Silent_p.K137K NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 137 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GGGCTTTGACCTTACCATACA 0.458000 34 22 0 0 1 0 0 MOCS1 4337 broad.mit.edu 37 6 39893453 39893453 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:39893453C>T ENST00000373186.4 - 2 524 c.387G>A c.(385-387)ccG>ccA p.P129P MOCS1_ENST00000308559.7_Silent_p.P129P|MOCS1_ENST00000432280.2_Silent_p.P100P|MOCS1_ENST00000373175.4_Silent_p.P100P|MOCS1_ENST00000373195.3_Silent_p.P42P|MOCS1_ENST00000340692.5_Silent_p.P129P|MOCS1_ENST00000373188.2_Silent_p.P129P|MOCS1_ENST00000425303.2_Silent_p.P129P NM_005943.5 NP_005934.2 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis 1 129 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 21 Ovarian(28;0.0355)|Colorectal(47;0.196) GCCGGATAAGCGGCTCTCCAC 0.607000 11 32 0 0 1 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176768 142176768 + RNA SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:142176768C>A ENST00000390369.2 - 0 22 CAGGACCACCCAGCAGAGGAG 0.537000 20 58 9.95505e-16 1.28169e-15 1 1 0 MMRN1 22915 broad.mit.edu 37 4 90848950 90848950 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:90848950G>A ENST00000394980.1 + 6 1279 c.960G>A c.(958-960)gtG>gtA p.V320V MMRN1_ENST00000264790.2_Silent_p.V320V|MMRN1_ENST00000394981.1_Silent_p.V286V|MMRN1_ENST00000508372.1_Silent_p.V62V Q13201 MMRN1_HUMAN multimerin 1 320 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATGCAGAAGTGATGCAAAAAA 0.338000 36 66 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100696663 100696663 + Missense_Mutation SNP G G A rs139724548 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:100696663G>A ENST00000306151.4 + 11 13373 c.13309G>A c.(13309-13311)Gac>Aac p.D4437N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4437 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCAAGAAGAGGACAGTGGACC 0.463000 15 35 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35093918 35093918 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:35093918G>C ENST00000378617.3 - 4 1153 c.759C>G c.(757-759)agC>agG p.S253R PIGO_ENST00000361778.2_Missense_Mutation_p.S253R|PIGO_ENST00000341666.3_Missense_Mutation_p.S253R|PIGO_ENST00000298004.5_Missense_Mutation_p.S253R NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 253 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGTCCATCTGGCTAAGTTTCT 0.527000 42 39 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107154148 107154148 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:107154148C>T ENST00000273980.4 - 18 2033 c.1586G>A c.(1585-1587)aGg>aAg p.R529K TBCK_ENST00000432496.2_Missense_Mutation_p.R529K|TBCK_ENST00000394708.2_Missense_Mutation_p.R529K|TBCK_ENST00000394706.3_Missense_Mutation_p.R490K|TBCK_ENST00000361687.4_Missense_Mutation_p.R466K Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 529 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TAATACACGCCTAAATTTTGC 0.368000 37 61 0 0 1 0 0 STX4 6810 broad.mit.edu 37 16 31051077 31051077 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:31051077A>G ENST00000394998.1 + 11 1184 c.841A>G c.(841-843)Acc>Gcc p.T281A STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.T283A NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 283 Interaction with CENPF (By similarity). intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 TGTGTCCATCACCGTCGTCCT 0.602000 99 160 0 0 1 0 0 KLK13 26085 broad.mit.edu 37 19 51563204 51563204 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:51563204T>C ENST00000595793.1 - 3 428 c.386A>G c.(385-387)gAg>gGg p.E129G KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.E129G|KLK13_ENST00000335422.3_Intron NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 129 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GGACTGCAGCTCCAGAAGCAT 0.607000 13 78 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28326816 28326816 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:28326816C>A ENST00000354638.3 - 2 360 c.205G>T c.(205-207)Gct>Tct p.A69S OCA2_ENST00000353809.5_Missense_Mutation_p.A69S|OCA2_ENST00000382996.2_Missense_Mutation_p.A69S NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 69 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGAATGAAGCAAACTCCTGG 0.582000 Oculocutaneous Albinism 12 6 7.03913e-09 8.029e-09 1 1 0 MAGEC3 139081 broad.mit.edu 37 X 140984864 140984864 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:140984864T>C ENST00000298296.1 + 7 1320 c.1320T>C c.(1318-1320)gcT>gcC p.A440A MAGEC3_ENST00000443323.2_Silent_p.A62A|MAGEC3_ENST00000536088.1_Silent_p.A142A|MAGEC3_ENST00000409007.1_Silent_p.A142A|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Silent_p.A142A NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 440 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) AGGATACAGCTACTTGGCATG 0.517000 20 18 0 0 1 0 0 CAPN9 10753 broad.mit.edu 37 1 230903329 230903329 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:230903329C>G ENST00000354537.1 + 5 661 c.579C>G c.(577-579)atC>atG p.I193M RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.I130M|CAPN9_ENST00000271971.2_Missense_Mutation_p.I193M NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 193 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GCAGCGCCATCGAGGCCATGG 0.557000 20 113 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94540062 94540062 + Missense_Mutation SNP G G A rs141443113 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:94540062G>A ENST00000289495.5 + 1 853 c.637G>A c.(637-639)Gat>Aat p.D213N PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D213N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D213N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D213N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D213N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D213N NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 213 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TGAGAACACTGATTCTCCCAG 0.453000 HNSCC(28;0.073) 19 21 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169696638 169696638 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:169696638C>A ENST00000333360.7 - 10 1636 c.1497G>T c.(1495-1497)ccG>ccT p.P499P SELE_ENST00000367780.4_Silent_p.P374P|SELE_ENST00000367774.1_Silent_p.P373P|SELE_ENST00000367776.1_Silent_p.P436P|SELE_ENST00000367777.1_Silent_p.P436P|SELE_ENST00000367782.4_Silent_p.P436P|SELE_ENST00000367781.4_Silent_p.P436P|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Silent_p.P373P|SELE_ENST00000367775.1_Silent_p.P374P NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 499 Sushi 6. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TGATCTTTCCCGGAACTGCCA 0.483000 13 65 4.3838e-07 4.87089e-07 1 1 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043824 26043824 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:26043824T>A ENST00000357905.2 - 1 61 c.62A>T c.(61-63)aAg>aTg p.K21M NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 21 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CTTCTGCGCCTTAGTGATAGC 0.483000 71 117 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175427287 175427287 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:175427287G>A ENST00000392547.2 - 8 1599 c.1500C>T c.(1498-1500)ccC>ccT p.P500P WIPF1_ENST00000272746.5_Silent_p.P500P|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P500P|WIPF1_ENST00000392546.2_Silent_p.P500P NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 500 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 ACCTCGGGATGGGAGGGAGTG 0.478000 9 13 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334273 39334273 + Silent SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:39334273C>G ENST00000377726.2 - 1 187 c.144G>C c.(142-144)ccG>ccC p.P48P NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 48 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament p.P165P(1)|p.P48P(1) kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GGCAGCACTGCGGTCTGCAGC 0.672000 31 97 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701420 56701420 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:56701420G>T ENST00000586855.2 - 5 1577 c.1264C>A c.(1264-1266)Cac>Aac p.H422N ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.H422N A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 422 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GTGGACTCGTGGGCGAACCGC 0.562000 30 40 1.08312e-15 1.38715e-15 1 1 0 TMEM2 23670 broad.mit.edu 37 9 74324291 74324291 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:74324291C>A ENST00000377044.4 - 17 3408 c.2869G>T c.(2869-2871)Gtg>Ttg p.V957L TMEM2_ENST00000377066.5_Missense_Mutation_p.V894L NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 957 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TATCCTGTCACAGAGCCATCA 0.448000 46 62 1.0096e-33 1.47107e-33 1 1 0 LRP11 84918 broad.mit.edu 37 6 150157413 150157413 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:150157413C>A ENST00000239367.2 - 5 1065 c.1060G>T c.(1060-1062)Gta>Tta p.V354L LRP11_ENST00000546019.1_Missense_Mutation_p.V99L NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 354 integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) GTGTGGGTTACCATCTTGCGG 0.512000 16 37 8.60227e-14 1.06255e-13 1 1 0 MUC16 94025 broad.mit.edu 37 19 9088024 9088024 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:9088024G>A ENST00000397910.4 - 1 3994 c.3791C>T c.(3790-3792)aCc>aTc p.T1264I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1264 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGTTTGATGGTGCTTGGACT 0.498000 177 421 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152453256 152453256 + Splice_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:152453256C>A ENST00000367255.5 - 144 26696 c.e144+1 SYNE1_ENST00000347037.5_Splice_Site|SYNE1_ENST00000354674.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000539504.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGAAAGTTACCGTTTTCTGT 0.532000 HNSCC(10;0.0054) 27 74 4.59853e-10 5.33692e-10 1 1 0 PLCB1 23236 broad.mit.edu 37 20 8113331 8113331 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:8113331G>T ENST00000378641.3 + 1 508 c.33G>T c.(31-33)ttG>ttT p.L11F PLCB1_ENST00000378637.2_Missense_Mutation_p.L11F|PLCB1_ENST00000338037.6_Missense_Mutation_p.L11F NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 11 MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGCACGCCTTGCAACTCAAGC 0.692000 16 11 6.49762e-13 7.91863e-13 1 1 0 MROH2B 133558 broad.mit.edu 37 5 41033142 41033142 + Splice_Site SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:41033142C>T ENST00000399564.4 - 23 2812 c.e23+1 MROH2B_ENST00000506092.2_Splice_Site NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGCACACTCACCAGCATGTAA 0.443000 43 29 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130648746 130648746 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:130648746T>A ENST00000229030.4 + 1 1743 c.1259T>A c.(1258-1260)cTg>cAg p.L420Q FZD10_ENST00000539839.1_Silent_p.P387P Q9ULW2 FZD10_HUMAN frizzled family receptor 10 420 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TTCGTGGCCCTGTTCCACATC 0.617000 21 62 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190719157 190719157 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:190719157G>T ENST00000441310.2 + 9 1392 c.1159G>T c.(1159-1161)Gtc>Ttc p.V387F PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.V211F|PMS1_ENST00000432292.3_Missense_Mutation_p.V211F|PMS1_ENST00000447232.2_Missense_Mutation_p.V387F|PMS1_ENST00000409823.3_Missense_Mutation_p.V348F NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 387 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TGATACTTCAGTCATTCCATT 0.333000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 21 36 7.45023e-12 8.98953e-12 1 1 0 GPC6 10082 broad.mit.edu 37 13 94197572 94197572 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:94197572G>T ENST00000377047.4 + 2 832 c.217G>T c.(217-219)Gac>Tac p.D73Y NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 73 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) AGAAATGGAAGACAAGTTAAG 0.398000 36 102 1.36161e-19 1.83391e-19 1 1 0 SLC12A7 10723 broad.mit.edu 37 5 1083862 1083862 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:1083862A>T ENST00000264930.5 - 8 1170 c.1127T>A c.(1126-1128)cTg>cAg p.L376Q NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 376 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) AGCCTCACCCAGGAAGACACC 0.677000 18 90 0 0 1 0 0 MRPS35 60488 broad.mit.edu 37 12 27908240 27908240 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:27908240G>T ENST00000081029.3 + 8 900 c.829G>T c.(829-831)Gaa>Taa p.E277* MRPS35_ENST00000538315.1_3'UTR NM_021821.3 NP_068593.2 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 277 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) GAAAAATATGGAAATAAATAA 0.343000 41 85 4.14481e-20 5.624e-20 1 1 0 ZNF827 152485 broad.mit.edu 37 4 146823634 146823634 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:146823634C>A ENST00000508784.1 - 2 1004 c.777G>T c.(775-777)aaG>aaT p.K259N ZNF827_ENST00000379448.4_Missense_Mutation_p.K259N|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TTTCACTGACCTTCTTGGACA 0.547000 41 22 4.90274e-10 5.67195e-10 1 1 0 CUBN 8029 broad.mit.edu 37 10 17085921 17085921 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:17085921G>T ENST00000377833.4 - 26 3799 c.3734C>A c.(3733-3735)cCc>cAc p.P1245H NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1245 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AATAAGAGGGGGTTTCTCATC 0.428000 45 64 3.54909e-21 4.83365e-21 1 1 0 URB2 9816 broad.mit.edu 37 1 229771138 229771138 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:229771138G>T ENST00000258243.2 + 4 914 c.778G>T c.(778-780)Gac>Tac p.D260Y NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 260 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 GGGGCTCTTGGACCAGCAGCA 0.567000 6 88 0.0215528 0.0218218 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66270112 66270112 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:66270112G>T ENST00000273854.3 - 8 2370 c.1770C>A c.(1768-1770)atC>atA p.I590I EPHA5_ENST00000511294.1_Silent_p.I591I|EPHA5_ENST00000354839.4_Silent_p.I590I|EPHA5_ENST00000432638.2_Silent_p.I427I NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 590 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 GGAGGACGCCGATAACCACTG 0.488000 TSP Lung(17;0.13) 20 47 7.87624e-14 9.76173e-14 1 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5303769 5303769 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:5303769C>A ENST00000274181.7 + 20 3214 c.3076C>A c.(3076-3078)Ccc>Acc p.P1026T NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 1026 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P1026S(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCAGCTGCTGCCCGACGCTGT 0.637000 58 29 6.20943e-19 8.30199e-19 1 1 0 CBX5 23468 broad.mit.edu 37 12 54639952 54639952 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:54639952T>A ENST00000209875.4 - 4 508 c.372A>T c.(370-372)gaA>gaT p.E124D CBX5_ENST00000550411.1_Missense_Mutation_p.E124D|CBX5_ENST00000439541.2_Missense_Mutation_p.E124D NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 124 Chromo 2; shadow subtype. blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 CAATGATCTTTTCTGGTTCCA 0.403000 48 134 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965519 88965519 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:88965519G>C ENST00000333190.4 + 4 3832 c.3223G>C c.(3223-3225)Ggt>Cgt p.G1075R NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1075 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGAATTCCCTGGTGCTTTTCC 0.353000 HNSCC(36;0.09) 28 38 0 0 1 0 0 ADCYAP1 116 broad.mit.edu 37 18 908354 908354 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr18:908354C>A ENST00000579794.1 + 3 609 c.331C>A c.(331-333)Cgg>Agg p.R111R ADCYAP1_ENST00000450565.3_Silent_p.R111R NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 111 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GCTCGTGGCCCGGGGCGTGGG 0.706000 28 161 3.57733e-08 4.03002e-08 1 1 0 CCDC112 153733 broad.mit.edu 37 5 114607088 114607088 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:114607088T>C ENST00000379611.5 - 7 1441 c.1154A>G c.(1153-1155)aAa>aGa p.K385R CCDC112_ENST00000395557.4_Missense_Mutation_p.K302R|CCDC112_ENST00000512261.1_Missense_Mutation_p.K302R|CCDC112_ENST00000506442.1_Missense_Mutation_p.K302R NM_001040440.2 NP_001035530.1 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 302 endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1) 20 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) CTGATGTTTTTTCTCTTTCTC 0.348000 51 38 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769229 31769229 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:31769229C>T ENST00000240587.4 - 2 1797 c.1470G>A c.(1468-1470)aaG>aaA p.K490K NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 490 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CTTCGCCAGGCTTGTCTTTTT 0.468000 56 249 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81739204 81739204 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:81739204T>G ENST00000537098.3 + 19 2264 c.2192T>G c.(2191-2193)cTg>cGg p.L731R CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.L578R|CMIP_ENST00000539778.2_Missense_Mutation_p.L637R NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 697 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CTGCTGGCCCTGAGCTGTGAG 0.622000 5 4 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65016142 65016142 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:65016142G>A ENST00000394156.3 - 8 1515 c.1062C>T c.(1060-1062)atC>atT p.I354I CDH11_ENST00000566827.1_Silent_p.I228I|CDH11_ENST00000268603.4_Silent_p.I354I P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 354 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ACTTCGGGTCGATGTGCACGT 0.468000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 41 27 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 124006999 124006999 + Splice_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:124006999C>A ENST00000456829.2 + 13 1774 c.1524_splice c.e13+1 p.P508_splice VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Splice_Site_p.P508_splice NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 508 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GGGAGGATGCCAGTGAGTTCC 0.483000 6 35 0.0293803 0.0296648 1 1 0 LMNB2 84823 broad.mit.edu 37 19 2434809 2434809 + Nonsense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:2434809G>A ENST00000325327.3 - 6 1020 c.958C>T c.(958-960)Cag>Tag p.Q320* LMNB2_ENST00000582871.1_Nonsense_Mutation_p.Q300* Q03252 LMNB2_HUMAN lamin B2 300 Coil 2.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGAGAGCTGGTAGCTGAGG 0.687000 10 18 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150815625 150815625 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:150815625A>T ENST00000397238.2 + 7 875 c.875A>T c.(874-876)cAg>cTg p.Q292L AGAP3_ENST00000335367.3_Missense_Mutation_p.Q472L|AGAP3_ENST00000479901.1_Missense_Mutation_p.Q292L|AGAP3_ENST00000463381.1_Missense_Mutation_p.Q64L|AGAP3_ENST00000473312.1_Missense_Mutation_p.Q292L NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 256 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 CGAAAGAAGCAGCAACTGGCC 0.622000 67 74 0 0 1 0 0 KIAA1731 85459 broad.mit.edu 37 11 93454576 93454576 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:93454576A>G ENST00000325212.6 + 19 6010 c.5848A>G c.(5848-5850)Aag>Gag p.K1950E KIAA1731_ENST00000531700.1_Missense_Mutation_p.K130E|KIAA1731_ENST00000411936.1_Missense_Mutation_p.K1950E|KIAA1731_ENST00000344196.4_Missense_Mutation_p.K130E Q9C0D2 K1731_HUMAN KIAA1731 1950 centrosome breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCCAGATGATAAGGTTAGTAA 0.353000 7 23 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149482236 149482236 + RNA SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:149482236T>A ENST00000378016.2 + 0 2910 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCTGTGTGCCTCCTGACCTCT 0.637000 53 59 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121293232 121293232 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:121293232C>T ENST00000297848.3 + 31 4028 c.3758C>T c.(3757-3759)cCt>cTt p.P1253L COL14A1_ENST00000247781.3_Missense_Mutation_p.P1158L|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1253L NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1253 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCTATGGAGCCTGGTACCTTC 0.358000 20 32 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 7 203 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158287446 158287446 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:158287446C>A ENST00000264192.3 - 4 429 c.308G>T c.(307-309)tGc>tTc p.C103F CYTIP_ENST00000540637.1_5'UTR|CYTIP_ENST00000497432.1_5'UTR NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 103 PDZ. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TTCCGAGGAGCAGGCATTCTG 0.378000 7 13 0.00307968 0.0031709 1 1 0 CENPE 1062 broad.mit.edu 37 4 104066453 104066453 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:104066453T>C ENST00000265148.3 - 32 4700 c.4611A>G c.(4609-4611)atA>atG p.I1537M CENPE_ENST00000380026.3_Missense_Mutation_p.I1512M NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1537 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TAATTTGTTTTATATTAAATT 0.294000 18 21 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48914996 48914996 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:48914996C>G ENST00000294954.7 - 11 1961 c.1940G>C c.(1939-1941)cGg>cCg p.R647P LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R585P|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R620P|LHCGR_ENST00000403273.1_3'UTR NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 647 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AAGTTCAGCCCGACGTTTACA 0.383000 52 114 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128782056 128782056 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:128782056G>A ENST00000529694.1 + 2 1264 c.888G>A c.(886-888)caG>caA p.Q296Q KCNJ5_ENST00000533599.1_Silent_p.Q296Q|KCNJ5_ENST00000338350.4_Silent_p.Q296Q NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 296 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) AGCTGCATCAGGAAGAGTTTG 0.542000 61 119 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79292142 79292142 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:79292142C>G ENST00000419573.3 - 18 3011 c.2737G>C c.(2737-2739)Gcc>Ccc p.A913P RASGRF1_ENST00000394745.3_Missense_Mutation_p.A129P|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A897P NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 915 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CCCTCGTTGGCCCCGGCGGTT 0.572000 47 98 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616489 77616489 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:77616489C>A ENST00000521891.2 + 2 614 c.166C>A c.(166-168)Cgc>Agc p.R56S ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 56 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R56C(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACGGATGAGCGCAAAAGTGA 0.498000 HNSCC(33;0.089) 46 61 2.24893e-16 2.93164e-16 1 1 0 DGKG 1608 broad.mit.edu 37 3 185882752 185882752 + Silent SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:185882752C>G ENST00000265022.3 - 23 2690 c.2151G>C c.(2149-2151)ggG>ggC p.G717G DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000544847.1_Silent_p.G658G|DGKG_ENST00000344484.4_Silent_p.G692G|DGKG_ENST00000382164.4_Silent_p.G678G NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 717 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TGTAGATCTGCCCCATCTCCA 0.562000 54 88 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128890738 128890738 + Silent SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:128890738T>C ENST00000375990.3 + 14 1732 c.1329T>C c.(1327-1329)gaT>gaC p.D443D UGGT1_ENST00000259253.6_Silent_p.D467D Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 467 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGGAGGTTGATAGCAGATATA 0.378000 77 128 0 0 1 0 0 CEP70 80321 broad.mit.edu 37 3 138218970 138218970 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:138218970C>A ENST00000264982.3 - 16 1900 c.1634G>T c.(1633-1635)gGa>gTa p.G545V CEP70_ENST00000542237.1_Missense_Mutation_p.G525V|CEP70_ENST00000489254.1_Missense_Mutation_p.G393V|CEP70_ENST00000481834.1_Missense_Mutation_p.G545V|CEP70_ENST00000484888.1_Missense_Mutation_p.G545V NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 545 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 GTCTTCAGGTCCTAATACCTG 0.443000 47 52 3.54909e-21 4.83365e-21 1 1 0 TRIM17 51127 broad.mit.edu 37 1 228602428 228602428 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:228602428G>T ENST00000366697.2 - 1 1302 c.346C>A c.(346-348)Ccc>Acc p.P116T TRIM17_ENST00000295033.3_Missense_Mutation_p.P116T|TRIM17_ENST00000366698.2_Missense_Mutation_p.P116T|TRIM17_ENST00000456946.2_Missense_Mutation_p.P116T Q9Y577 TRI17_HUMAN tripartite motif containing 17 116 protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) ACACAGATGGGGCTCTGGTCC 0.657000 17 152 3.99206e-14 4.98154e-14 1 1 0 BTBD11 121551 broad.mit.edu 37 12 107937909 107937909 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:107937909G>T ENST00000280758.5 + 3 2011 c.1483G>T c.(1483-1485)Gtg>Ttg p.V495L BTBD11_ENST00000420571.2_Missense_Mutation_p.V495L|BTBD11_ENST00000490090.2_Missense_Mutation_p.V495L NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 495 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CAACCTCCAGGTGGAAAGGTA 0.567000 13 33 1.61879e-10 1.90908e-10 1 1 0 PYCRL 65263 broad.mit.edu 37 8 144687915 144687915 + Silent SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:144687915G>C ENST00000220966.6 - 6 845 c.816C>G c.(814-816)gcC>gcG p.A272A PYCRL_ENST00000377579.3_Silent_p.A123A|PYCRL_ENST00000495276.1_5'UTR NM_023078.3 NP_075566.2 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 260 proline biosynthetic process pyrroline-5-carboxylate reductase activity central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CAGCCTCCACGGCGCTCATGG 0.682000 9 71 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580934 140580934 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:140580934C>A ENST00000354757.3 + 1 1587 c.1587C>A c.(1585-1587)ttC>ttA p.F529L PCDHB11_ENST00000536699.1_Missense_Mutation_p.F164L NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 529 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTCGACTTCCGCGTGGGCG 0.672000 117 64 4.73232e-52 7.07909e-52 1 1 0 HECTD2 143279 broad.mit.edu 37 10 93221098 93221098 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:93221098A>C ENST00000446394.1 + 4 595 c.495A>C c.(493-495)ttA>ttC p.L165F HECTD2_ENST00000298068.5_Missense_Mutation_p.L165F|HECTD2_ENST00000371681.4_Missense_Mutation_p.L165F Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 165 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 TCCCAGAATTAAATGCTGCAT 0.279000 40 39 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5776249 5776249 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:5776249C>A ENST00000381624.3 + 21 2080 c.2019C>A c.(2017-2019)ggC>ggA p.G673G CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 673 integral to membrane TCTTGGGCGGCCGGACAGCAA 0.542000 42 67 7.63091e-17 1.0001e-16 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29631619 29631619 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:29631619A>T ENST00000278882.3 + 7 795 c.415A>T c.(415-417)Atc>Ttc p.I139F FRG1B_ENST00000358464.4_Missense_Mutation_p.I139F endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACAATGTGAAATCAATTATGT 0.328000 18 20 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109995439 109995439 + Missense_Mutation SNP C C T rs150756404 byFrequency TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:109995439C>T ENST00000424296.2 - 3 219 c.143G>A c.(142-144)cGt>cAt p.R48H AK9_ENST00000285397.5_Missense_Mutation_p.R48H|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.R48H NM_001145128.2 NP_001138600.2 adenylate kinase 9 TGTTATGTAACGGGCTAATGT 0.294000 3 33 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101588880 101588880 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:101588880C>T ENST00000536262.2 - 4 1088 c.530G>A c.(529-531)tGc>tAc p.C177Y NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 177 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TACCAGTGTGCAGTAGAATGT 0.418000 16 19 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35733883 35733883 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:35733883G>C ENST00000540320.1 + 22 4109 c.3575G>C c.(3574-3576)gGt>gCt p.G1192A NBEA_ENST00000310336.4_Missense_Mutation_p.G1192A|NBEA_ENST00000400445.3_Missense_Mutation_p.G1192A|NBEA_ENST00000379939.2_Missense_Mutation_p.G1192A Q8NFP9 NBEA_HUMAN neurobeachin 1192 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) CACATGACCGGTAGCGTAGAC 0.363000 12 15 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208747 58208747 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:58208747C>A ENST00000377918.3 + 1 2093 c.2067C>A c.(2065-2067)ccC>ccA p.P689P NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 689 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GATCCCTTCCCGAGGGGGTAC 0.637000 54 75 1.00221e-16 1.31114e-16 1 1 0 MYH13 8735 broad.mit.edu 37 17 10227485 10227485 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:10227485A>G ENST00000418404.3 - 22 2951 c.2788T>C c.(2788-2790)Ttg>Ctg p.L930L MYH13_ENST00000570743.1_Silent_p.L930L|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L930L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 930 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCCTCTTCCAATCTCTCCGTC 0.453000 85 24 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47681656 47681656 + Silent SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:47681656C>A ENST00000283303.2 + 6 933 c.675C>A c.(673-675)ctC>ctA p.L225L GPR115_ENST00000371220.1_Silent_p.L282L|GPR115_ENST00000327753.3_Silent_p.L225L NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 225 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CCAGACAACTCCACATCCACA 0.408000 37 83 3.3946e-10 3.97762e-10 1 1 0 ERCC6 2074 broad.mit.edu 37 10 50690871 50690871 + Silent SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:50690871C>G ENST00000355832.5 - 10 2109 c.2031G>C c.(2029-2031)ccG>ccC p.P677P ERCC6_ENST00000542458.1_Silent_p.P47P NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 677 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TATTTTGCATCGGTGAGCCAG 0.473000 Direct reversal of damage;Nucleotide excision repair (NER) 33 39 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7064078 7064078 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:7064078C>A ENST00000299481.4 + 4 1167 c.821C>A c.(820-822)gCa>gAa p.A274E NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 274 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CCTGAGTTTGCACTGTGCGAA 0.458000 53 33 6.4308e-24 8.97607e-24 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8341964 8341964 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:8341964C>G ENST00000381196.4 - 37 5219 c.4676G>C c.(4675-4677)cGg>cCg p.R1559P PTPRD_ENST00000356435.5_Missense_Mutation_p.R1559P|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1559P|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1153P|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1149P|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1152P|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1152P|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1152P|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1546P|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1537P|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1149P NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1559 Substrate binding (By similarity).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCAACCAGTCCGGCCAACTCC 0.343000 TSP Lung(15;0.13) 28 22 0 0 1 0 0 SLC22A2 6582 broad.mit.edu 37 6 160670390 160670390 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:160670390G>T ENST00000366952.1 - 6 2118 c.637C>A c.(637-639)Cgg>Agg p.R213R SLC22A2_ENST00000366953.3_Silent_p.R234R|SLC22A2_ENST00000491092.1_5'UTR O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 234 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) ACTGTTCTCCGATATCTCCGC 0.458000 46 109 2.69774e-35 3.97849e-35 1 1 0 SMC1B 27127 broad.mit.edu 37 22 45758803 45758803 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:45758803T>G ENST00000357450.4 - 16 2523 c.2524A>C c.(2524-2526)Atc>Ctc p.I842L SMC1B_ENST00000404354.3_Missense_Mutation_p.I842L NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 842 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCTTTCTGGATAGTTTCTTTT 0.333000 23 19 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139706751 139706751 + Splice_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:139706751C>A ENST00000303045.6 - 34 3146 c.2700_splice c.e34+1 p.P900_splice COL22A1_ENST00000435777.1_Splice_Site_p.P900_splice|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 900 Collagen-like 7.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTTTTCTTACCGGTGGTCCAG 0.597000 HNSCC(7;0.00092) 43 60 8.20599e-20 1.10933e-19 1 1 0 SCN9A 6335 broad.mit.edu 37 2 167089972 167089972 + Splice_Site SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:167089972C>T ENST00000375387.4 - 21 4145 c.3804_splice c.e21-1 p.V1269_splice SCN9A_ENST00000409435.1_Splice_Site_p.V1268_splice|SCN9A_ENST00000303354.6_Splice_Site_p.V1269_splice|SCN9A_ENST00000409672.1_Splice_Site_p.V1257_splice|AC010127.3_ENST00000447809.2_RNA Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1268 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ACCAAAGAAACCTATAAAAAT 0.358000 11 15 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12956894 12956894 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:12956894C>A ENST00000276297.4 - 9 3361 c.2952G>T c.(2950-2952)agG>agT p.R984S DLC1_ENST00000358919.2_Missense_Mutation_p.R547S|DLC1_ENST00000512044.2_Missense_Mutation_p.R581S|DLC1_ENST00000520226.1_Missense_Mutation_p.R473S NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 984 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCCCAGAATCCCTTCTTTCCG 0.582000 34 28 4.3181e-19 5.79451e-19 1 1 0 KCNT2 343450 broad.mit.edu 37 1 196397339 196397339 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:196397339G>T ENST00000367433.5 - 10 981 c.880C>A c.(880-882)Cat>Aat p.H294N KCNT2_ENST00000367431.4_Missense_Mutation_p.H294N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.H294N Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 294 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGAGCTCTATGTCGACTATAG 0.368000 48 29 1.22102e-19 1.64758e-19 1 1 0 IMPG2 50939 broad.mit.edu 37 3 100961570 100961570 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:100961570T>C ENST00000193391.7 - 14 3171 c.2984A>G c.(2983-2985)aAc>aGc p.N995S NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 995 SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AATAGCCAAGTTCATGGTATT 0.393000 23 99 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123601242 123601242 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:123601242T>C ENST00000336139.4 - 3 717 c.355A>G c.(355-357)Acg>Gcg p.T119A ZNF202_ENST00000530393.1_Missense_Mutation_p.T119A|ZNF202_ENST00000529691.1_Missense_Mutation_p.T119A O95125 ZN202_HUMAN zinc finger protein 202 119 SCAN box. 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) TCCACCAGCGTCACTGCCTCC 0.582000 18 141 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70926676 70926676 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:70926676A>T ENST00000357250.6 - 38 2848 c.2690T>A c.(2689-2691)cTt>cAt p.L897H COL9A1_ENST00000370499.4_Missense_Mutation_p.L654H|COL9A1_ENST00000320755.7_Missense_Mutation_p.L654H|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 897 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GAAACCGGGAAGCCCAGGAGG 0.632000 26 44 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2550805 2550805 + Splice_Site SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:2550805G>T ENST00000567020.1 + 7 1648 c.1507_splice c.e7-1 p.G503_splice RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Splice_Site_p.G509_splice|TBC1D24_ENST00000293970.5_Splice_Site_p.G509_splice NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 509 TLD. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 CATCCTGCAGGGGGAGGAGGC 0.662000 5 25 5.9392e-07 6.57908e-07 1 1 0 CATSPERD 257062 broad.mit.edu 37 19 5772918 5772918 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:5772918C>T ENST00000381624.3 + 20 1944 c.1883C>T c.(1882-1884)cCg>cTg p.P628L CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 628 integral to membrane ACCTCCCAGCCGCAGAACTGG 0.557000 38 65 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72154044 72154044 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:72154044C>T ENST00000355636.6 - 20 2951 c.2338G>A c.(2338-2340)Gaa>Aaa p.E780K PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000537465.1_Intron|PMFBP1_ENST00000537792.1_Intron NM_001160213.1 NP_001153685.1 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 928 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CTGGTTGGTTCCCTGCTAGAA 0.532000 55 37 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48586068 48586068 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:48586068A>G ENST00000323776.5 + 1 324 c.162A>G c.(160-162)agA>agG p.R54R MYCBPAP_ENST00000436259.2_Silent_p.R17R|MYCBPAP_ENST00000419930.1_Silent_p.R54R NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 17 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CCCGCCTCAGAATAACTCCGA 0.622000 11 8 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26112196 26112196 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:26112196C>T ENST00000381655.2 + 7 720 c.578C>T c.(577-579)tCc>tTc p.S193F ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 153 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CTGCTGTCATCCAGGTTAGCT 0.493000 20 19 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144135059 144135059 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:144135059G>T ENST00000307017.4 + 9 2436 c.1930G>T c.(1930-1932)Ggt>Tgt p.G644C USP38_ENST00000510377.1_Missense_Mutation_p.G644C NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 644 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) ACAAGATGGTGGTCTAATGCA 0.438000 109 218 8.11351e-46 1.20875e-45 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 8 86 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112102225 112102225 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:112102225A>T ENST00000403825.3 + 7 1049 c.788A>T c.(787-789)aAg>aTg p.K263M IFRD1_ENST00000535603.1_Missense_Mutation_p.K213M|IFRD1_ENST00000005558.4_Missense_Mutation_p.K263M NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 263 multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 GTGAAGAAAAAGCTTGAGATG 0.333000 13 34 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986694 11986694 + RNA SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:11986694G>T ENST00000434078.2 + 0 608 NR_027425.1 TGACTTCTCAGGGAGAGAAGT 0.522000 41 199 6.86731e-36 1.0148e-35 1 1 0 ZC3H12C 85463 broad.mit.edu 37 11 110035858 110035858 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:110035858C>G ENST00000453089.2 + 5 2836 c.1955C>G c.(1954-1956)cCc>cGc p.P652R ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P683R|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P684R Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 683 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TTCCACGACCCCTTAACCAGA 0.557000 105 277 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226578208 226578208 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:226578208G>T ENST00000366794.5 - 4 663 c.520C>A c.(520-522)Ccc>Acc p.P174T NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 174 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CTGTACTCGGGCCGGAAACCC 0.562000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 56 47 5.73376e-24 8.01847e-24 1 1 0 CBWD5 220869 broad.mit.edu 37 9 70490056 70490056 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:70490056C>T ENST00000382405.3 - 1 190 c.13G>A c.(13-15)Gtt>Att p.V5I CBWD5_ENST00000430059.2_Missense_Mutation_p.V5I|CBWD5_ENST00000377395.4_Missense_Mutation_p.V5I|CBWD5_ENST00000429800.2_Missense_Mutation_p.V5I|CBWD5_ENST00000377384.1_Missense_Mutation_p.V5I Q5RIA9 CBWD5_HUMAN COBW domain containing 5 5 ATP binding all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) ACAGATCCAACAGCCGGTAAC 0.612000 56 113 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616210 248616210 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:248616210G>C ENST00000342927.3 + 1 134 c.112G>C c.(112-114)Gtg>Ctg p.V38L NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATCTTTGTGGTGGCTATAAC 0.527000 105 228 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79392735 79392735 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:79392735G>T ENST00000370742.3 - 8 982 c.919C>A c.(919-921)Cct>Act p.P307T NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 307 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GAAAGCAAAGGACCAATACTC 0.294000 15 21 7.93312e-07 8.748e-07 1 1 0 OR9Q1 219956 broad.mit.edu 37 11 57947506 57947506 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:57947506T>A ENST00000335397.3 + 3 906 c.590T>A c.(589-591)gTg>gAg p.V197E NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) ACTCAAGAAGTGCTGATTATT 0.463000 48 73 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21689222 21689222 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:21689222G>T ENST00000398485.2 + 3 997 c.943G>T c.(943-945)Gct>Tct p.A315S PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A291S NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 315 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CGAAGGCACCGCTTACTCTCC 0.627000 69 103 6.07461e-23 8.4466e-23 1 1 0 MATN1 4146 broad.mit.edu 37 1 31191603 31191603 + Missense_Mutation SNP T T G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:31191603T>G ENST00000373765.4 - 3 678 c.643A>C c.(643-645)Aag>Cag p.K215Q MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 215 VWFA 1. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGGAACTTCCTGGACAGC 0.706000 16 25 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119296323 119296323 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:119296323G>T ENST00000338891.7 - 13 3077 c.2634C>A c.(2632-2634)caC>caA p.H878Q FAM184A_ENST00000368475.4_Missense_Mutation_p.H758Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.H758Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.H878Q NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 878 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 GATGCTCTCTGTGTCTTAATT 0.338000 11 31 6.40141e-05 6.812e-05 1 1 0 CATSPERB 79820 broad.mit.edu 37 14 92088146 92088146 + Missense_Mutation SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:92088146T>A ENST00000256343.3 - 19 2222 c.2066A>T c.(2065-2067)aAc>aTc p.N689I NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 689 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GGTCATATTGTTGGGTGCACT 0.388000 37 60 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8670004 8670004 + Missense_Mutation SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:8670004C>G ENST00000270328.4 - 3 594 c.328G>C c.(328-330)Gag>Cag p.E110Q ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E110Q Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 110 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCCAGGCCCTCCCGTGTCCAG 0.677000 22 26 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89462292 89462292 + Splice_Site SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:89462292A>T ENST00000336596.2 + 10 1989 c.1762_splice c.e10-1 p.L588_splice EPHA3_ENST00000494014.1_Splice_Site_p.L588_splice NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 588 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTCAAACAGTAAAACTTCCAG 0.373000 TSP Lung(6;0.00050) 44 76 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170063263 170063263 + Silent SNP G G A rs149367019 byFrequency TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:170063263G>A ENST00000263816.3 - 39 7252 c.6967C>T c.(6967-6969)Cta>Tta p.L2323L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2323 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACATCTCTTAGCCAGTTGATA 0.463000 33 53 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585680 82585680 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:82585680C>A ENST00000423517.2 - 5 4926 c.4589G>T c.(4588-4590)aGa>aTa p.R1530I PCLO_ENST00000333891.8_Missense_Mutation_p.R1530I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1461 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AACACTAGTTCTTCGTTTTCT 0.398000 15 36 7.93312e-07 8.748e-07 1 1 0 RNF40 9810 broad.mit.edu 37 16 30774800 30774800 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:30774800C>T ENST00000324685.6 + 4 797 c.362C>T c.(361-363)gCg>gTg p.A121V RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.A121V|RNF40_ENST00000357890.5_Missense_Mutation_p.A121V NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586.1 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 121 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) CTGTCTTCAGCGCCTGAGGCA 0.562000 4 157 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50111284 50111284 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:50111284G>C ENST00000281631.5 + 15 1752 c.1594G>C c.(1594-1596)Gag>Cag p.E532Q PARP8_ENST00000503750.2_Missense_Mutation_p.E532Q|PARP8_ENST00000514067.2_Missense_Mutation_p.E532Q|PARP8_ENST00000505697.2_Missense_Mutation_p.E532Q|PARP8_ENST00000514342.2_Missense_Mutation_p.E285Q|PARP8_ENST00000505554.1_Missense_Mutation_p.E511Q|PARP8_ENST00000511363.2_3'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 532 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) ATGTGAACGGGAGCTGTGTGT 0.353000 18 20 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129799951 129799951 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:129799951C>A ENST00000421865.2 + 54 7614 c.7565C>A c.(7564-7566)tCc>tAc p.S2522Y NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2522 cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AAAGGATGTTCCCTGGAGGTT 0.378000 69 127 1.43161e-34 2.10277e-34 1 1 0 LILRA2 11027 broad.mit.edu 37 19 55087315 55087315 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:55087315C>T ENST00000251377.3 + 7 1127 c.994C>T c.(994-996)Ccc>Tcc p.P332S LILRA2_ENST00000391737.1_Missense_Mutation_p.P320S|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P332S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P332S leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GCAGCCGGTCCCCACAGTAGC 0.602000 26 32 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55972792 55972792 + Silent SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:55972792A>T ENST00000389286.4 - 5 758 c.711T>A c.(709-711)atT>atA p.I237I RP11-420M1.2_ENST00000561155.1_RNA NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 237 Ig-like 3. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GACCTGCTATAATTGTTGGTG 0.368000 59 110 0 0 1 0 0 SNAP25 6616 broad.mit.edu 37 20 10286817 10286817 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:10286817G>A ENST00000254976.2 + 8 804 c.593G>A c.(592-594)cGt>cAt p.R198H SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.R198H|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 198 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) GCCAACCAACGTGCAACAAAG 0.458000 10 28 0 0 1 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36234912 36234912 + Splice_Site SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:36234912C>T ENST00000412391.2 - 6 496 c.e6+1 U2AF1L4_ENST00000292879.5_Intron|U2AF1L4_ENST00000378975.3_Splice_Site|AD000671.6_ENST00000589807.1_Intron Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AACTACCATACCCCATCTCAT 0.552000 18 65 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558510 129558510 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr12:129558510C>T ENST00000422113.2 - 9 3536 c.3210G>A c.(3208-3210)gaG>gaA p.E1070E TMEM132D_ENST00000389441.4_Silent_p.E608E NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1070 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) TAATGTCATCCTCGCTACTCA 0.507000 43 92 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26504062 26504062 + Silent SNP C C G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:26504062C>G ENST00000361530.6 + 1 169 c.24C>G c.(22-24)acC>acG p.T8T CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Silent_p.T8T Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 8 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) AGACCTGGACCCCCGGAAAGG 0.637000 10 50 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543549 182543549 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:182543549C>T ENST00000295108.3 - 2 496 c.39G>A c.(37-39)gaG>gaA p.E13E NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 13 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GGGGCTGAGGCTCGCCCATCA 0.517000 5 55 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54969305 54969305 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:54969305G>T ENST00000326764.5 + 14 2405 c.1926G>T c.(1924-1926)caG>caT p.Q642H LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 605 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) AGTTTAACCAGTGCCAGACGC 0.572000 39 57 1.96642e-18 2.6195e-18 1 1 0 HTATIP2 10553 broad.mit.edu 37 11 20403774 20403774 + Silent SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:20403774A>G ENST00000451739.2 + 4 933 c.492A>G c.(490-492)gtA>gtG p.V164V HTATIP2_ENST00000419348.2_Silent_p.V198V|HTATIP2_ENST00000531058.1_Silent_p.V118V|HTATIP2_ENST00000421577.2_Silent_p.V164V|HTATIP2_ENST00000443524.2_Silent_p.V164V NM_001098522.1 NP_001091992.1 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa 164 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GTTACTCTGTATTTAGGCCTG 0.358000 22 9 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683806 100683806 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:100683806C>T ENST00000306151.4 + 3 9173 c.9109C>T c.(9109-9111)Cca>Tca p.P3037S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3037 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCGGCATACCAATCTCAAC 0.512000 261 355 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96936884 96936884 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:96936884G>T ENST00000488633.1 + 7 1034 c.815G>T c.(814-816)gGg>gTg p.G272V NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 272 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 ACAGCTTGTGGGGATGACGCG 0.562000 32 58 9.65963e-10 1.11575e-09 1 1 0 NKX2-1 7080 broad.mit.edu 37 14 36989271 36989271 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:36989271G>A ENST00000354822.5 - 1 162 c.64C>T c.(64-66)Ccc>Tcc p.P22S NKX2-1_ENST00000518149.1_Intron|NKX2-1_ENST00000522719.2_5'UTR|NKX2-1-AS1_ENST00000521292.2_RNA NM_001079668.2 NP_001073136.1 P43699 NKX21_HUMAN NK2 homeobox 1 242 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) AGCCTGCCGGGGCTGCTCCTC 0.687000 A NSCLC 17 28 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43830954 43830954 + Splice_Site SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:43830954G>T ENST00000417669.1 + 3 669 c.224_splice c.e3-1 p.M75_splice MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Splice_Site_p.M75_splice|MPPED1_ENST00000538182.1_Splice_Site_p.M108_splice|MPPED1_ENST00000443721.1_Splice_Site_p.M75_splice O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 75 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CTCCCTGCAGGGTGGACCCGG 0.647000 33 107 1.26612e-14 1.59908e-14 1 1 0 UGT2B15 7366 broad.mit.edu 37 4 69536139 69536139 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:69536139G>A ENST00000338206.5 - 1 207 c.198C>T c.(196-198)gcC>gcT p.A66A NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 66 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ATGATTTACTGGCATTGACAA 0.358000 107 231 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065774 35065774 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:35065774G>T ENST00000382002.5 - 10 1712 c.1286C>A c.(1285-1287)tCt>tAt p.S429Y PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S328Y|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S328Y|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 429 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATTGTGGTAAGAGGATCTGGG 0.493000 28 230 1.13719e-10 1.34764e-10 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55140745 55140745 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:55140745G>A ENST00000257290.5 + 11 1937 c.1606G>A c.(1606-1608)Gtg>Atg p.V536M FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 536 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GGTGCTGTTGGTGATTGTGAT 0.443000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 33 82 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50053214 50053214 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:50053214A>G ENST00000376042.1 + 6 2343 c.2045A>G c.(2044-2046)cAt>cGt p.H682R CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H682R|CCNB3_ENST00000376038.1_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 682 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CATGTTAAGCATACCAACAAA 0.468000 16 10 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220091721 220091721 + Nonsense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:220091721G>T ENST00000366926.3 - 3 995 c.834C>A c.(832-834)taC>taA p.Y278* SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Nonsense_Mutation_p.Y33* NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 278 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) TGGGGTCAATGTAACACTGCC 0.527000 22 141 5.26018e-13 6.42129e-13 1 1 0 KCTD8 386617 broad.mit.edu 37 4 44450171 44450171 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:44450171A>T ENST00000360029.3 - 1 653 c.370T>A c.(370-372)Ttc>Atc p.F124I NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 124 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 TTCTCGGGGAAGTGCTCCGGC 0.612000 HNSCC(17;0.042) 22 16 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2282198 2282198 + Missense_Mutation SNP G G A rs143442513 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:2282198G>A ENST00000301727.4 + 4 490 c.442G>A c.(442-444)Gtg>Atg p.V148M E4F1_ENST00000564139.1_Missense_Mutation_p.V148M|E4F1_ENST00000565090.1_Missense_Mutation_p.V148M NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 148 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 AGAGGTCATCGTGGCTGCTGA 0.692000 7 194 0 0 1 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510209 77510209 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:77510209G>T ENST00000477717.1 + 3 817 c.582G>T c.(580-582)caG>caT p.Q194H NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 194 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 TCCTGAGCCAGGTGCTGCCCC 0.582000 47 134 2.24722e-20 3.05488e-20 1 1 0 KRT32 3882 broad.mit.edu 37 17 39620373 39620373 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:39620373G>T ENST00000225899.3 - 5 1056 c.953C>A c.(952-954)aCg>aAg p.T318K NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 318 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CGTGTTGACCGTGCGTCTCAG 0.587000 23 67 9.95505e-16 1.28169e-15 1 1 0 ZCCHC7 84186 broad.mit.edu 37 9 37357174 37357174 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:37357174A>G ENST00000336755.5 + 9 1647 c.1541A>G c.(1540-1542)aAg>aGg p.K514R ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.K224R NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 514 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) AAGGAAGGCAAGAGGGGCAAG 0.433000 31 57 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327881 88327881 + Missense_Mutation SNP C C T rs149899708 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr13:88327881C>T ENST00000325089.6 + 2 457 c.238C>T c.(238-240)Cgt>Tgt p.R80C SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 80 integral to membrane p.R80S(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TAGCCCTCCCCGTTTCCCAAT 0.458000 85 155 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57252860 57252860 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:57252860A>C ENST00000343433.6 - 4 1021 c.941T>G c.(940-942)cTg>cGg p.L314R C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 314 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CTCTGGAGACAGGGAGCCCTC 0.488000 27 75 0 0 1 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767832 143767832 + Missense_Mutation SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:143767832A>G ENST00000419275.1 - 1 49 c.17T>C c.(16-18)aTc>aCc p.I6T NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 6 I -> V (in Ref. 2; AAI30379/AAI30377). protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 GTCAAAAAAGATGACGGAGTT 0.478000 5 181 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898404 175898404 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr4:175898404C>A ENST00000359240.3 + 5 2398 c.1728C>A c.(1726-1728)ttC>ttA p.F576L ADAM29_ENST00000514159.1_Missense_Mutation_p.F576L|ADAM29_ENST00000445694.1_Missense_Mutation_p.F576L|ADAM29_ENST00000404450.4_Missense_Mutation_p.F576L NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 576 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GGGCTCGCTTCAATGACATAA 0.408000 71 56 2.94884e-30 4.2375e-30 1 1 0 ZNF551 90233 broad.mit.edu 37 19 58199496 58199496 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:58199496G>A ENST00000282296.5 + 3 2038 c.1853G>A c.(1852-1854)aGt>aAt p.S618N ZNF551_ENST00000356715.4_Missense_Mutation_p.S602N|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 618 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 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) TATGAGTGCAGTCAATGTGGG 0.453000 69 85 0 0 1 0 0 STARD7 56910 broad.mit.edu 37 2 96858995 96858995 + Nonsense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:96858995C>T ENST00000337288.5 - 4 1028 c.645G>A c.(643-645)tgG>tgA p.W215* STARD7_ENST00000462501.1_Intron NM_020151.3 NP_064536.2 Q9NQZ5 STAR7_HUMAN StAR-related lipid transfer (START) domain containing 7 215 START. mitochondrion endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2) 14 AATGGGTTACCCAGTGAAGAA 0.428000 60 74 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544969 82544969 + Missense_Mutation SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:82544969C>A ENST00000423517.2 - 7 12670 c.12333G>T c.(12331-12333)gaG>gaT p.E4111D PCLO_ENST00000437081.1_Missense_Mutation_p.E831D|PCLO_ENST00000333891.8_Missense_Mutation_p.E4111D NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4042 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGGGTCTTCCTCCGCCTTCA 0.463000 7 30 1.06961e-07 1.19574e-07 1 1 0 CAMTA2 23125 broad.mit.edu 37 17 4883494 4883494 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr17:4883494A>C ENST00000361571.5 - 8 1531 c.1120T>G c.(1120-1122)Ttt>Gtt p.F374V CAMTA2_ENST00000572543.1_Missense_Mutation_p.F380V|CAMTA2_ENST00000348066.3_Missense_Mutation_p.F375V|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F377V|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F375V|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F398V NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 375 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TCAGGGTCAAAGGCAGGACTG 0.607000 57 50 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108788584 108788584 + Missense_Mutation SNP A A T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:108788584A>T ENST00000232603.5 - 9 792 c.710T>A c.(709-711)tTc>tAc p.F237Y MORC1_ENST00000483760.1_Missense_Mutation_p.F237Y NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 237 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GTAGGCTCTGAATGACCACCT 0.363000 11 46 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102130436 102130436 + Silent SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:102130436T>A ENST00000369138.1 + 5 1222 c.732T>A c.(730-732)gcT>gcA p.A244A GRIK2_ENST00000369134.4_Silent_p.A195A|GRIK2_ENST00000318991.6_Silent_p.A244A|GRIK2_ENST00000421544.1_Silent_p.A244A|GRIK2_ENST00000369137.3_Silent_p.A244A|GRIK2_ENST00000413795.1_Silent_p.A244A|GRIK2_ENST00000358361.3_Silent_p.A244A NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 244 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGGCATTAGCTATGGGAATGA 0.289000 16 37 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957281 12957281 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:12957281G>T ENST00000276297.4 - 9 2974 c.2565C>A c.(2563-2565)aaC>aaA p.N855K DLC1_ENST00000358919.2_Missense_Mutation_p.N418K|DLC1_ENST00000512044.2_Missense_Mutation_p.N452K|DLC1_ENST00000520226.1_Missense_Mutation_p.N344K NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 855 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TGTCGCTACTGTTTTCCCTCC 0.582000 24 34 1.96895e-08 2.22153e-08 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23509171 23509171 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:23509171G>T ENST00000296682.3 + 2 211 c.29G>T c.(28-30)aGc>aTc p.S10I NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 10 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CAAGAGGAGAGCCCAGAAGAA 0.562000 HNSCC(3;0.000094) 19 24 3.51602e-12 4.25654e-12 1 1 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862813 10862813 + RNA SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr21:10862813G>T ENST00000559480.1 + 0 109 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TGGGGCCTCAGTGAAGGTCTC 0.562000 40 270 5.7616e-29 8.23086e-29 1 1 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535632 27535632 + RNA SNP A A G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:27535632A>G ENST00000574842.1 + 0 255 TCCATCTTCAAGGTCCGGATA 0.502000 81 182 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6625745 6625745 + Silent SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:6625745G>T ENST00000264670.6 - 4 708 c.397C>A c.(397-399)Cga>Aga p.R133R NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Silent_p.R98R NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 133 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AAGATTTTTCGACTTAAATTT 0.343000 34 20 2.5098e-30 3.61372e-30 1 1 0 ZNF560 147741 broad.mit.edu 37 19 9578249 9578249 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:9578249C>T ENST00000301480.4 - 10 1587 c.1374G>A c.(1372-1374)aaG>aaA p.K458K NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GCTCATATGGCTTCTCTCCAT 0.413000 77 146 0 0 1 0 0 ARMC6 93436 broad.mit.edu 37 19 19166153 19166153 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:19166153G>T ENST00000535612.1 + 7 1535 c.1103G>T c.(1102-1104)gGt>gTt p.G368V ARMC6_ENST00000392335.2_Missense_Mutation_p.G343V|ARMC6_ENST00000269932.6_Missense_Mutation_p.G343V|ARMC6_ENST00000392336.3_Missense_Mutation_p.G368V|ARMC6_ENST00000546344.1_Missense_Mutation_p.G275V NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 368 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) GTCCGTGCTGGTGGGACGGAG 0.627000 40 70 6.5261e-18 8.61493e-18 1 1 0 SYTL5 94122 broad.mit.edu 37 X 37985955 37985955 + Missense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:37985955G>A ENST00000357972.5 + 17 2711 c.2165G>A c.(2164-2166)cGt>cAt p.R722H SYTL5_ENST00000456733.2_Missense_Mutation_p.R744H|SYTL5_ENST00000297875.2_Missense_Mutation_p.R722H|TM4SF2_ENST00000465127.1_Intron Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 722 intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 CTCATGCTTCGTTCCAGCATG 0.512000 11 12 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137255999 137255999 + Silent SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:137255999T>A ENST00000453654.1 - 19 1508 c.969A>T c.(967-969)ccA>ccT p.P323P DGKI_ENST00000446122.1_Silent_p.P623P|DGKI_ENST00000424189.2_Silent_p.P623P|DGKI_ENST00000288490.5_Silent_p.P623P O75912 DGKI_HUMAN diacylglycerol kinase, iota 623 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GGTGATCACCTGGGTTTCCCC 0.408000 6 23 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939269 22939269 + Nonsense_Mutation SNP C C A rs74170734 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:22939269C>A ENST00000397104.3 - 7 2901 c.2902G>T c.(2902-2904)Gga>Tga p.G968* zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GGTTTCTTTCCAGTATGAATT 0.358000 15 32 0.00316338 0.00325249 1 1 0 PEG3 5178 broad.mit.edu 37 19 57327373 57327373 + Missense_Mutation SNP T T C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:57327373T>C ENST00000326441.9 - 10 2800 c.2437A>G c.(2437-2439)Atc>Gtc p.I813V ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.I689V|PEG3_ENST00000423103.2_Missense_Mutation_p.I813V|PEG3_ENST00000593695.1_Missense_Mutation_p.I687V|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 813 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGATGGTTGATAGCATCGAAG 0.473000 71 97 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44690980 44690980 + Nonsense_Mutation SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr20:44690980G>A ENST00000290231.6 - 8 1863 c.1699C>T c.(1699-1701)Cag>Tag p.Q567* NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 567 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) GCCTGTGGCTGCCCCATCTGT 0.552000 4 53 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131815313 131815313 + Silent SNP G G A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:131815313G>A ENST00000359827.3 - 32 6572 c.5610C>T c.(5608-5610)caC>caT p.H1870H PLXNA4_ENST00000321063.4_Silent_p.H1870H Q9HCM2 PLXA4_HUMAN plexin A4 1870 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ACTGGTCATCGTGGTCCAGAG 0.527000 16 52 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266592 65266592 + RNA SNP T T A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:65266592T>A ENST00000534336.1 + 0 1360 NR_002819.2 ATAAGTTTTTTTCTCTTTGAA 0.428000 25 63 0 0 1 0 0 ASPDH 554235 broad.mit.edu 37 19 51015734 51015734 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:51015734G>C ENST00000389208.4 - 5 597 c.536C>G c.(535-537)cCt>cGt p.P179R ASPDH_ENST00000376916.3_Missense_Mutation_p.P74R|ASPDH_ENST00000597030.1_5'UTR NM_001114598.1 NP_001108070.1 A6ND91 ASPD_HUMAN aspartate dehydrogenase domain containing 179 NAD biosynthetic process|NADP catabolic process aspartate dehydrogenase activity|NADP binding endometrium(1)|large_intestine(1)|lung(1) 3 CCCACGGACAGGGCCTTCGTA 0.672000 18 13 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30966288 30966288 + Missense_Mutation SNP A A C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:30966288A>C ENST00000295055.8 - 13 1582 c.1406T>G c.(1405-1407)tTc>tGc p.F469C CAPN13_ENST00000534090.2_Missense_Mutation_p.F469C NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 469 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TCGGAGCAAGAACTCCGCTGA 0.418000 252 110 0 0 1 0 0 TCL1B 9623 broad.mit.edu 37 14 96152766 96152766 + Translation_Start_Site SNP C C A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr14:96152766C>A ENST00000340722.7 + 0 13 RP11-1070N10.6_ENST00000461160.1_RNA NM_004918.3 NP_004909.1 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GAAAGCTACACGTGTGAGCCT 0.697000 24 24 1.48734e-19 1.99955e-19 1 1 0 PCNT 5116 broad.mit.edu 37 21 47805845 47805845 + Silent SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr21:47805845C>T ENST00000359568.5 + 17 3518 c.3411C>T c.(3409-3411)ggC>ggT p.G1137G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1137 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACCGGGAAGGCGCAAACCTCC 0.607000 51 80 0 0 1 0 0 LRP11 84918 broad.mit.edu 37 6 150157414 150157414 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:150157414C>T ENST00000239367.2 - 5 1064 c.1059G>A c.(1057-1059)atG>atA p.M353I LRP11_ENST00000546019.1_Missense_Mutation_p.M98I NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 353 integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) TGTGGGTTACCATCTTGCGGT 0.507000 16 36 0 0 1 0 0 PDCD7 10081 broad.mit.edu 37 15 65412286 65412286 + Missense_Mutation SNP C C T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr15:65412286C>T ENST00000204549.4 - 3 1070 c.1016G>A c.(1015-1017)tGt>tAt p.C339Y NM_005707.1 NP_005698.1 Q8N8D1 PDCD7_HUMAN programmed cell death 7 339 apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 GGCTGGAGGACAGACCCCTGG 0.458000 58 163 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2855679 2855679 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:2855679G>C ENST00000520002.1 - 55 8789 c.8234C>G c.(8233-8235)cCt>cGt p.P2745R CSMD1_ENST00000537824.1_Missense_Mutation_p.P2744R|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2687R|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2687R|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2745R|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2686R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2745 Sushi 19. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCGTGGGCAGGGTTTCCAGG 0.478000 46 90 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047689 42047689 + Frame_Shift_Del DEL G G - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:42047689delG ENST00000372584.1 - 3 3794 c.2780delC c.(2779-2781)ctfs p.P927fs HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P927fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P927fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P927fs NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 927 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCGAGACAGAGGCACAGAGGA 0.607 59 94 --- --- --- --- VCAM1 7412 broad.mit.edu 37 1 101196842 101196842 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:101196842delC ENST00000294728.2 + 6 1394 c.1293delC c.(1291-1293)tafs p.Y431fs VCAM1_ENST00000370119.4_Frame_Shift_Del_p.Y369fs|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.Y339fs NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 431 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTAGCGTGTACCCCCTTGACC 0.463 32 54 --- --- --- --- AMPD1 270 broad.mit.edu 37 1 115222283 115222283 + Frame_Shift_Del DEL G G - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:115222283delG ENST00000369538.3 - 6 948 c.901delC c.(901-903)agfs p.Q301fs AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Q272fs|AMPD1_ENST00000520113.2_Frame_Shift_Del_p.Q305fs NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 272 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TGATGGACCTGGAACTTGGAG 0.413 22 89 --- --- --- --- PPIAL4G 644591 broad.mit.edu 37 1 143767634 143767634 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:143767634delC ENST00000419275.1 - 1 247 c.215delG c.(214-216)gcfs p.G72fs NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 72 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 GTCACCGGTGCCATTAGGGTG 0.473 18 280 --- --- --- --- CD1E 913 broad.mit.edu 37 1 158324217 158324217 + Frame_Shift_Del DEL T T - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:158324217delT ENST00000368160.3 + 2 109 c.109delT c.(109-111)tcfs p.F37fs CD1E_ENST00000368155.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368167.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000434258.1_Frame_Shift_Del_p.F35fs|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368163.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368154.1_Intron NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 37 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GCAGCTGTCCTTCCGCATGCT 0.537 30 128 --- --- --- --- EEF1A1P14 647167 broad.mit.edu 37 1 194158836 194158836 + RNA DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:194158836delC ENST00000454538.1 + 0 384 GTGCCTGCCTCCCCAGGATGT 0.507 8 42 --- --- --- --- URB2 9816 broad.mit.edu 37 1 229770836 229770836 + Frame_Shift_Del DEL G G - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr1:229770836delG ENST00000258243.2 + 4 612 c.476delG c.(475-477)agfs p.R159fs NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 159 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TCGGCCTGCAGGCAGCCCGAA 0.592 17 71 --- --- --- --- ZFP36L2 678 broad.mit.edu 37 2 43452511 43452512 + Frame_Shift_Ins INS - - C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr2:43452511_43452512insC ENST00000282388.3 - 2 724_725 c.431_432insG c.(430-432)gggfs p.G144fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 144 Poly-Gly. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GGGAGCCGCCGCCCCCCTTCTG 0.639 33 15 --- --- --- --- SCN5A 6331 broad.mit.edu 37 3 38592839 38592839 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:38592839delC ENST00000413689.1 - 28 5217 c.5024delG c.(5023-5025)gcfs p.G1675fs SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G1642fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.G1674fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.G1674fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G1657fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.G1675fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G1657fs NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1675 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTTGGCCATGCCAAAGATGGA 0.552 93 64 --- --- --- --- RAD54L2 23132 broad.mit.edu 37 3 51673492 51673493 + Frame_Shift_Del DEL GA GA - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:51673492_51673493delGA ENST00000409535.1 + 12 2043_2044 c.1918_1919delGA c.(1918-1920)gfs p.E640fs RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.E334fs NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 640 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CTTGGCCAATGAGCAGGACCTA 0.535 26 27 --- --- --- --- TNIK 23043 broad.mit.edu 37 3 170846634 170846642 + In_Frame_Del DEL AACTTTGCC AACTTTGCC - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:170846634_170846642delAACTTTGCC ENST00000436636.2 - 16 1978_1986 c.1634_1642delGGCAAAGTT c.(1633-1644)ccc>c p.RQSS545del TNIK_ENST00000284483.8_In_Frame_Del_p.RQSS545del|TNIK_ENST00000369326.5_In_Frame_Del_p.RQSS516del|TNIK_ENST00000357327.5_In_Frame_Del_p.RQSS516del|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000470834.1_In_Frame_Del_p.RQSS516del|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000475336.1_Intron NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 545 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ATGGCAGGGGAACTTTGCCGGTTGAGCCT 0.469 6 8 --- --- --- --- SLC51A 200931 broad.mit.edu 37 3 195955100 195955102 + In_Frame_Del DEL CTG CTG - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr3:195955100_195955102delCTG ENST00000296327.5 + 5 686_688 c.477_479delCTG c.(475-480)ccc>cc p.PC159del NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit ACACAGGCCCctgctgctgctgc 0.665 10 248 --- --- --- --- EBF1 1879 broad.mit.edu 37 5 158158152 158158152 + Frame_Shift_Del DEL G G - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr5:158158152delG ENST00000313708.6 - 11 1332 c.1050delC c.(1048-1050)ccfs p.P350fs EBF1_ENST00000380654.4_Frame_Shift_Del_p.P319fs|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Frame_Shift_Del_p.P342fs NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 350 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AATCGATGGTGGGTTCGTTGA 0.438 T HMGA2 lipoma 26 21 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 6 11 --- --- --- --- SLC35F1 222553 broad.mit.edu 37 6 118606439 118606440 + Frame_Shift_Ins INS - - A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr6:118606439_118606440insA ENST00000360388.4 + 7 1141_1142 c.940_941insA c.(940-942)ctcfs p.L314fs NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 314 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) TTCAGTCAACCTCTCCTTGCTC 0.465 OREG0017635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 129 261 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC rs112463195 by1000genomes TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:1586653_1586654insGCC ENST00000297477.5 - 9 1492_1493 c.1176_1177insGGC c.(1174-1179)ggccgg>ggGGCccgg p.392_393GR>GAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 392 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTCCCGCCGGAGCCGCCGCTGG 0.708 21 24 --- --- --- --- ABCB1 5243 broad.mit.edu 37 7 87133630 87133634 + Frame_Shift_Del DEL GATGC GATGC - rs149482536 byFrequency TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:87133630_87133634delGATGC ENST00000265724.3 - 29 4185_4189 c.3768_3772delGCATC c.(3766-3774)acagfs p.THQ1256fs ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Frame_Shift_Del_p.THQ1192fs NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1256 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AGCAGCTGCTGATGCGTGCCATGCT 0.488 13 96 --- --- --- --- NYAP1 222950 broad.mit.edu 37 7 100084787 100084787 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:100084787delC ENST00000423930.1 + 3 571 c.412delC c.(412-414)ccfs p.P139fs NYAP1_ENST00000300179.2_Frame_Shift_Del_p.P139fs|NYAP1_ENST00000454988.1_Frame_Shift_Del_p.P82fs Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 139 GGCAGAGACGCCCCCCAGCAA 0.667 17 20 --- --- --- --- ADCK2 90956 broad.mit.edu 37 7 140373568 140373588 + In_Frame_Del DEL CAAACTGGGCCAGTGGGCCAG CAAACTGGGCCAGTGGGCCAG - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:140373568_140373588delCAAACTGGGCCAGTGGGCCAG ENST00000072869.4 + 1 616_636 c.438_458delCAAACTGGGCCAGTGGGCCAG c.(436-459)atc>at p.IKLGQWAS146del ADCK2_ENST00000476491.1_In_Frame_Del_p.IKLGQWAS146del NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 146 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CAACCTACATCAAACTGGGCCAGTGGGCCAGCACCCGGCGC 0.606 24 115 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619579 141619579 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr7:141619579delC ENST00000548136.1 + 1 963 c.904delC c.(904-906)ggfs p.R302fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) AGAGGCCCTTCGGGATGGGGT 0.423 39 55 --- --- --- --- LOC101929066 101929066 broad.mit.edu 37 8 17947397 17947398 + RNA INS - - T rs148283356 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:17947397_17947398insT ENST00000499554.2 + 0 483 CTD-2547L16.1_ENST00000521775.1_RNA TAATGCTAttcttttttttttt 0.376 2 4 --- --- --- --- UNC5D 137970 broad.mit.edu 37 8 35631840 35631841 + Frame_Shift_Ins INS - - T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:35631840_35631841insT ENST00000287272.2 + 15 2315_2316 c.2295_2296insT c.(2293-2298)tttcgcfs p.R766fs UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.R840fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.R411fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.R830fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.R768fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.R835fs Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 835 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCATCACTTTCTTCGCACAAGA 0.426 16 89 --- --- --- --- TG 7038 broad.mit.edu 37 8 133899343 133899343 + Frame_Shift_Del DEL G G - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr8:133899343delG ENST00000220616.4 + 9 1766 c.1726delG c.(1726-1728)aafs p.E576fs TG_ENST00000377869.1_Frame_Shift_Del_p.E576fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 576 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGAGCTTCCAGAATTCCTTCT 0.448 20 104 --- --- --- --- WNK2 65268 broad.mit.edu 37 9 96055090 96055090 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr9:96055090delC ENST00000297954.4 + 23 5454 c.5454delC c.(5452-5454)agfs p.S1818fs WNK2_ENST00000395477.2_Frame_Shift_Del_p.S1781fs|WNK2_ENST00000427277.2_Frame_Shift_Del_p.S1393fs|WNK2_ENST00000356055.3_Frame_Shift_Del_p.S145fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.S1430fs|WNK2_ENST00000395475.2_3'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1818 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCCCCTCCAGCCCCGACGTGA 0.706 2 4 --- --- --- --- CACNB2 783 broad.mit.edu 37 10 18690967 18690967 + Frame_Shift_Del DEL G G - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:18690967delG ENST00000396576.2 + 2 664 c.163delG c.(163-165)cafs p.A55fs CACNB2_ENST00000377319.3_Frame_Shift_Del_p.A55fs|CACNB2_ENST00000377328.1_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000377329.4_Frame_Shift_Del_p.A56fs|CACNB2_ENST00000377331.2_Frame_Shift_Del_p.A82fs|CACNB2_ENST00000324631.7_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000352115.6_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000282343.8_Frame_Shift_Del_p.A82fs|CACNB2_ENST00000377315.4_Frame_Shift_Del_p.A62fs NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 110 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GTTGGAAAAAGCAAAGGTAAA 0.537 16 63 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88761384 88761384 + RNA DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr10:88761384delC ENST00000444431.1 + 0 2514 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CACTTCCCTTCCCCTTCAGGT 0.388 42 39 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662745 6662746 + In_Frame_Ins INS - - CAG rs56194704 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:6662745_6662746insCAG ENST00000299441.3 - 2 510_511 c.99_100insCTG c.(97-102)ctgggc>ctCTGgggc p.33_34LG>LWG NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 33 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L33_G34insL(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCCCAGCCCCcagcagcagca 0.639 3 4 --- --- --- --- NLRP10 338322 broad.mit.edu 37 11 7981203 7981204 + Frame_Shift_Ins INS - - T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:7981203_7981204insT ENST00000328600.2 - 2 2116_2117 c.1955_1956insA c.(1954-1956)aacfs p.N652fs NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 652 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) atatgtaagtatttTTTGGTGT 0.376 19 25 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62292621 62292622 + Frame_Shift_Ins INS - - G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr11:62292621_62292622insG ENST00000378024.4 - 5 9541_9542 c.9267_9268insC c.(9265-9270)ccagatfs p.D3090fs AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3090 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATGGAGATCTTGGGGGCTTTGA 0.460 157 324 --- --- --- --- HS3ST4 9951 broad.mit.edu 37 16 26147463 26147464 + Frame_Shift_Ins INS - - A TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr16:26147463_26147464insA ENST00000331351.5 + 2 1657_1658 c.1265_1266insA c.(1264-1266)cgafs p.R422fs HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 422 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) CGCATTGACCCAGATGTCATCC 0.475 14 21 --- --- --- --- EEF2 1938 broad.mit.edu 37 19 3981953 3981954 + Frame_Shift_Ins INS - - G TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:3981953_3981954insG ENST00000309311.6 - 6 976_977 c.888_889insC c.(886-891)cctcttfs p.L297fs NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 297 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTTGAAGATGGGGTCCAGGA 0.653 58 165 --- --- --- --- MCOLN1 57192 broad.mit.edu 37 19 7589876 7589876 + Frame_Shift_Del DEL G G - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:7589876delG ENST00000264079.6 + 2 186 c.61delG c.(61-63)ggfs p.G21fs NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 21 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCCCAACCCCGGGTATGGGAC 0.617 19 48 --- --- --- --- ADCK4 79934 broad.mit.edu 37 19 41220505 41220505 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr19:41220505delC ENST00000324464.3 - 2 334 c.33delG c.(31-33)ggfs p.G11fs ADCK4_ENST00000243583.6_Frame_Shift_Del_p.G11fs|ADCK4_ENST00000450541.1_Frame_Shift_Del_p.G11fs NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 11 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) GTCCACCGGTCCCCCGAAGTA 0.657 49 61 --- --- --- --- TOP3B 8940 broad.mit.edu 37 22 22317262 22317262 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chr22:22317262delC ENST00000398793.2 - 12 1642 c.1208delG c.(1207-1209)gtfs p.G403fs TOP3B_ENST00000413067.2_Frame_Shift_Del_p.G132fs|TOP3B_ENST00000357179.5_Frame_Shift_Del_p.G403fs NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 403 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) CCACGCGTCACCCCCTGCAAC 0.607 17 34 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350814 50350814 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:50350814delC ENST00000376020.2 - 6 3353 c.3328delG c.(3328-3330)agfs p.E1110fs SHROOM4_ENST00000289292.7_Frame_Shift_Del_p.E1110fs|SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.E994fs NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1110 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CTGTACTTCTCCCAGTTGGGA 0.562 26 10 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 10 10 --- --- --- --- HEPH 9843 broad.mit.edu 37 X 65486287 65486287 + Frame_Shift_Del DEL C C - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:65486287delC ENST00000519389.1 + 21 3591 c.3412delC c.(3412-3414)ccfs p.P1139fs HEPH_ENST00000441993.2_Frame_Shift_Del_p.P1087fs|HEPH_ENST00000343002.2_Frame_Shift_Del_p.P1085fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.P818fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.P896fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.P1088fs Q9BQS7 HEPH_HUMAN hephaestin 1085 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TTCAGCAGTGCCCCCCAGAGA 0.438 25 10 --- --- --- --- MAP2K4P1 139201 broad.mit.edu 37 X 72744763 72744763 + RNA DEL T T - TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06f0ce6c-d91c-40ef-afc5-43a86e4a39d8 7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e g.chrX:72744763delT ENST00000602584.1 - 0 1886 NR_029423.1 CTCTCAGCCCTTTTTTTTAGT 0.413 4 9 --- --- --- ---