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 MAP3K19 80122 broad.mit.edu 37 2 135744717 135744717 + Silent SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:135744717C>T ENST00000375845.3 - 7 1755 c.1725G>A c.(1723-1725)ccG>ccA p.P575P MAP3K19_ENST00000392915.1_Silent_p.P592P|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.P462P|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GTCCCAAAGCCGGGAAAATTT 0.438000 46 118 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215990521 215990521 + Missense_Mutation SNP A A G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:215990521A>G ENST00000366943.2 - 48 9774 c.9388T>C c.(9388-9390)Tgg>Cgg p.W3130R USH2A_ENST00000307340.3_Missense_Mutation_p.W3130R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3130 Fibronectin type-III 18. 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) GGAGACACCCAATCAATTTGA 0.378000 HNSCC(13;0.011) 39 95 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68358180 68358180 + Missense_Mutation SNP A A G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:68358180A>G ENST00000393799.2 + 17 2050 c.1783A>G c.(1783-1785)Agt>Ggt p.S595G PPP6R3_ENST00000265636.5_Missense_Mutation_p.S515G|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S549G|PPP6R3_ENST00000393800.2_Missense_Mutation_p.S595G|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S363G|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S560G|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S589G|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S595G|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S515G|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S566G Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 595 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TACAAATGAAAGTGTAAGTAT 0.388000 3 21 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371650 55371650 + Missense_Mutation SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:55371650G>A ENST00000302231.4 - 1 224 c.200C>T c.(199-201)gCa>gTa p.A67V NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GCAAGAATCTGCAAAGGACAA 0.408000 46 83 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803783 142803783 + RNA SNP A A T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:142803783A>T ENST00000423385.1 - 0 1182 atagttaacaaagtagctggc 0.403000 2 2 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98850195 98850195 + RNA SNP C C T rs829864 by1000genomes TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr12:98850195C>T ENST00000554295.1 - 0 728 NR_033801.1 TCTCATAATCCTCATGAGCTT 0.423000 4 53 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332776 22332776 + RNA SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr15:22332776G>T ENST00000558896.1 + 0 583 GCCTATGACAGGTATGTTGCC 0.488000 37 97 2.47316e-13 2.68703e-13 1 1 0 PPTC7 160760 broad.mit.edu 37 12 110983717 110983717 + Silent SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr12:110983717G>A ENST00000354300.3 - 3 858 c.570C>T c.(568-570)ccC>ccT p.P190P NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 190 PP2C-like. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 CGGCTTCAGGGGGAGCGATTG 0.562000 52 101 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70348241 70348241 + Missense_Mutation SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chrX:70348241C>A ENST00000333646.6 + 23 3504 c.3305C>A c.(3304-3306)tCc>tAc p.S1102Y MED12_ENST00000374080.3_Missense_Mutation_p.S1102Y|MED12_ENST00000374102.1_Missense_Mutation_p.S1102Y NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1102 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TTGTGCTGCTCCTCTAACAAT 0.537000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 57 154 2.12129e-23 2.49563e-23 1 1 0 COL14A1 7373 broad.mit.edu 37 8 121290443 121290443 + Missense_Mutation SNP A A G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr8:121290443A>G ENST00000297848.3 + 27 3577 c.3307A>G c.(3307-3309)Att>Gtt p.I1103V COL14A1_ENST00000309791.4_Missense_Mutation_p.I1103V|COL14A1_ENST00000247781.3_Missense_Mutation_p.I1008V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1103 VWFA 2. 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) AATTAAACACATTTCATACAA 0.348000 48 49 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579617 55579617 + Silent SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:55579617C>A ENST00000333973.2 + 1 764 c.675C>A c.(673-675)atC>atA p.I225I NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TCACCACCATCCTGAAGATGG 0.502000 88 83 8.6486e-37 1.10408e-36 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52380539 52380539 + Missense_Mutation SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr3:52380539C>A ENST00000420323.2 + 11 1969 c.1708C>A c.(1708-1710)Cgc>Agc p.R570S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 570 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GGTGGCCATGCGCAGCAGCCT 0.587000 8 15 0.00307968 0.00313188 1 1 0 ARL8A 127829 broad.mit.edu 37 1 202103599 202103599 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:202103599C>T ENST00000272217.2 - 7 725 c.557G>A c.(556-558)aGc>aAc p.S186N NM_001256129.1|NM_138795.3 NP_001243058.1|NP_620150.1 Q96BM9 ARL8A_HUMAN ADP-ribosylation factor-like 8A 186 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 GGAGTCTCAGCTTCTCCGTGA 0.567000 42 168 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166226649 166226649 + Missense_Mutation SNP T T C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:166226649T>C ENST00000357398.3 + 20 3979 c.3689T>C c.(3688-3690)aTa>aCa p.I1230T SCN2A_ENST00000375427.2_Missense_Mutation_p.I1230T|SCN2A_ENST00000375437.2_Missense_Mutation_p.I1230T|SCN2A_ENST00000283256.6_Missense_Mutation_p.I1230T Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1230 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTTGAAGATATATACATTGAG 0.328000 40 47 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900126 202900126 + Silent SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:202900126C>T ENST00000286201.1 + 1 817 c.756C>T c.(754-756)ttC>ttT p.F252F NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 252 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 AGAGGCGCTTCGCCCGCCTCT 0.657000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 67 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29449860 29449860 + Missense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:29449860G>T ENST00000389048.3 - 18 3901 c.2995C>A c.(2995-2997)Cct>Act p.P999T ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 999 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TGGCTTTCAGGGTCCATGTGA 0.552000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 97 148 1.74666e-38 2.25375e-38 1 1 0 PPP1R3C 5507 broad.mit.edu 37 10 93390557 93390557 + Missense_Mutation SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr10:93390557C>A ENST00000238994.5 - 2 165 c.81G>T c.(79-81)agG>agT p.R27S NM_005398.5 NP_005389.1 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory subunit 3C 27 protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1) 12 Colorectal(252;0.235) CCAAGCAAAGCCTCATGGCCA 0.458000 56 135 3.4597e-24 4.19358e-24 1 1 0 CDX4 1046 broad.mit.edu 37 X 72673397 72673397 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chrX:72673397C>T ENST00000373514.2 + 2 547 c.547C>T c.(547-549)Cat>Tat p.H183Y NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 183 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) TTACACTGATCATCAAAGATT 0.393000 15 34 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067483 190067483 + Silent SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:190067483G>T ENST00000367462.3 - 8 2197 c.1966C>A c.(1966-1968)Cgg>Agg p.R656R FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.R554R NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 656 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CCCAGGTTCCGGGAAGGGTCA 0.443000 85 301 7.427e-35 9.38147e-35 1 1 0 DNAJC21 134218 broad.mit.edu 37 5 34936260 34936260 + Silent SNP G G A rs147400420 byFrequency TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr5:34936260G>A ENST00000382021.2 + 4 554 c.327G>A c.(325-327)acG>acA p.T109T DNAJC21_ENST00000303525.7_Silent_p.T109T|DNAJC21_ENST00000342382.4_Silent_p.T109T NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 109 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding p.T109T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GATTTTACACGGTGTATCGTA 0.318000 34 77 0 0 1 0 0 SOHLH2 54937 broad.mit.edu 37 13 36747942 36747942 + Missense_Mutation SNP T T C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr13:36747942T>C ENST00000379881.3 - 9 975 c.887A>G c.(886-888)aAc>aGc p.N296S SOHLH2_ENST00000554962.1_Missense_Mutation_p.N373S|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.N373S NM_017826.2 NP_060296.2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) CATCACACTGTTTTCCCTTGA 0.428000 17 27 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146077624 146077624 + Silent SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr5:146077624C>T ENST00000394413.3 - 3 822 c.252G>A c.(250-252)aaG>aaA p.K84K PPP2R2B_ENST00000394411.4_Silent_p.K84K|PPP2R2B_ENST00000394414.1_Silent_p.K150K|PPP2R2B_ENST00000504198.1_Silent_p.K90K|PPP2R2B_ENST00000508545.2_Silent_p.K73K|PPP2R2B_ENST00000453001.1_Silent_p.K84K|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Silent_p.K142K|PPP2R2B_ENST00000356826.3_Silent_p.K84K|PPP2R2B_ENST00000336640.6_Silent_p.K87K|PPP2R2B_ENST00000394410.2_Silent_p.K73K Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 84 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTTCTAAACTCTTCAGGTAAT 0.388000 5 66 0 0 1 0 0 TPSB2 64499 broad.mit.edu 37 16 1278609 1278609 + RNA SNP G G C rs77309587 by1000genomes TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr16:1278609G>C ENST00000430512.2 - 0 917 TPSB2_ENST00000339687.6_RNA|TPSB2_ENST00000445910.1_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) AACAGGAGGGGCTGGCTCTCC 0.612000 4 41 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 869929 869929 + Missense_Mutation SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:869929G>A ENST00000449825.1 - 13 1467 c.1111C>T c.(1111-1113)Cgg>Tgg p.R371W CHID1_ENST00000323578.8_Missense_Mutation_p.R371W|CHID1_ENST00000528581.1_Missense_Mutation_p.R396W|CHID1_ENST00000436108.2_Missense_Mutation_p.R371W|CHID1_ENST00000454838.2_Missense_Mutation_p.R396W|CHID1_ENST00000429789.2_Missense_Mutation_p.R340W|CHID1_ENST00000336845.5_Missense_Mutation_p.R396W|CHID1_ENST00000323541.7_Missense_Mutation_p.R401W NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 371 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CCCAGCTCCCGGGCCAGCTCC 0.677000 23 45 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78931486 78931486 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr17:78931486C>T ENST00000306801.3 + 29 3795 c.3433C>T c.(3433-3435)Cgg>Tgg p.R1145W RPTOR_ENST00000544334.2_Missense_Mutation_p.R987W|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 1145 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 AGGAGACGTGCGGATCGTCCG 0.627000 51 73 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6477672 6477672 + Silent SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:6477672C>T ENST00000525074.1 - 6 1678 c.1284G>A c.(1282-1284)ccG>ccA p.P428P TRIM3_ENST00000537602.1_Silent_p.P350P|TRIM3_ENST00000536344.1_Silent_p.P309P|TRIM3_ENST00000345851.3_Silent_p.P428P|TRIM3_ENST00000529058.1_Intron|TRIM3_ENST00000359518.3_Silent_p.P428P NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 428 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCACATCGTCCGGGGAAGGTG 0.697000 9 16 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68154038 68154038 + Missense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:68154038G>T ENST00000294304.7 + 6 1376 c.1270G>T c.(1270-1272)Gac>Tac p.D424Y NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 424 Beta-propeller 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CATCGCGGTCGACTGGGTGGC 0.667000 30 39 9.39395e-14 1.0342e-13 1 1 0 IGHV1OR16-4 28312 broad.mit.edu 37 16 33013816 33013816 + RNA SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr16:33013816G>T ENST00000567619.1 - 0 499 GGTGCAGTCTGGGGCTGAGGT 0.597000 22 54 3.93418e-24 4.72102e-24 1 1 0 TNR 7143 broad.mit.edu 37 1 175335202 175335202 + Missense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:175335202G>T ENST00000367674.1 - 11 2834 c.2126C>A c.(2125-2127)gCc>gAc p.A709D TNR_ENST00000263525.2_Missense_Mutation_p.A709D NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 709 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGGGCCACTGGCCTTGGTCCA 0.522000 37 141 1.36161e-19 1.55613e-19 1 1 0 MAGEB3 4114 broad.mit.edu 37 X 30254629 30254629 + Silent SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chrX:30254629G>A ENST00000361644.2 + 5 1325 c.588G>A c.(586-588)agG>agA p.R196R MAGEB3_ENST00000378986.1_Silent_p.R196R NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 196 MAGE. NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CTCGTGGGAGGGGATTTCCCA 0.468000 6 74 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 133996938 133996938 + Missense_Mutation SNP A A G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr5:133996938A>G ENST00000398844.2 + 2 515 c.227A>G c.(226-228)tAt>tGt p.Y76C SEC24A_ENST00000322887.4_Missense_Mutation_p.Y76C NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 76 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGTCTAACTATGGTGGTTCT 0.498000 156 55 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143081594 143081594 + Missense_Mutation SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr6:143081594G>A ENST00000367603.2 - 9 6573 c.5831C>T c.(5830-5832)tCc>tTc p.S1944F HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1944F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1944F NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1944 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AGGCAAGGAGGAGAATCTAGG 0.463000 38 22 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75055724 75055724 + Silent SNP A A G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:75055724A>G ENST00000326665.5 - 12 1985 c.1767T>C c.(1765-1767)ccT>ccC p.P589P RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.P392P NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 589 Glu-rich. 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 CACTAGAATAAGGGTGACTTC 0.418000 21 28 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138208578 138208578 + Silent SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:138208578G>T ENST00000409968.1 + 15 3301 c.3123G>T c.(3121-3123)ctG>ctT p.L1041L THSD7B_ENST00000272643.3_Silent_p.L1041L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.L1010L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GTCCCAAACTGGATCTCAAGA 0.373000 12 8 3.07112e-06 3.20464e-06 1 1 0 OR56A4 120793 broad.mit.edu 37 11 6023879 6023879 + Missense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:6023879G>T ENST00000330728.4 - 1 545 c.500C>A c.(499-501)tCc>tAc p.S167Y NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAACGTGCAGGACTCCATGGT 0.522000 47 57 7.05121e-23 8.21501e-23 1 1 0 GPRC5B 51704 broad.mit.edu 37 16 19873158 19873158 + Splice_Site SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr16:19873158C>T ENST00000300571.2 - 3 1359 c.e3+1 GPRC5B_ENST00000537135.1_Splice_Site|GPRC5B_ENST00000569847.1_Splice_Site|GPRC5B_ENST00000569479.1_Splice_Site|GPRC5B_ENST00000535671.1_Splice_Site NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TTGATACTTACGGTCCCACCG 0.552000 73 89 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50719902 50719902 + Silent SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr22:50719902C>A ENST00000449103.1 - 22 3689 c.3549G>T c.(3547-3549)gtG>gtT p.V1183V PLXNB2_ENST00000359337.4_Silent_p.V1183V O15031 PLXB2_HUMAN plexin B2 1183 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGCGGCCCAGCACCCACTCGC 0.682000 9 23 0.000442599 0.000457861 1 1 0 KIAA1551 55196 broad.mit.edu 37 12 32137642 32137642 + Silent SNP A A G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr12:32137642A>G ENST00000312561.4 + 4 4167 c.3753A>G c.(3751-3753)ctA>ctG p.L1251L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TTCCTGAACTACAAGACGACA 0.363000 30 38 0 0 1 0 0 STX6 10228 broad.mit.edu 37 1 180959233 180959233 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:180959233C>T ENST00000258301.5 - 5 613 c.376G>A c.(376-378)Gac>Aac p.D126N STX6_ENST00000542060.1_Missense_Mutation_p.D25N NM_005819.4 NP_005810.1 O43752 STX6_HUMAN syntaxin 6 126 Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 CTGCCACTGTCTCCCAGCAGT 0.468000 24 120 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 24746020 24746020 + Missense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chrX:24746020G>T ENST00000379068.3 + 15 1696 c.1653G>T c.(1651-1653)aaG>aaT p.K551N POLA1_ENST00000379059.3_Missense_Mutation_p.K545N|POLA1_ENST00000493342.1_3'UTR P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 545 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) TCAGCATGAAGACAATGCAGA 0.423000 27 36 6.36457e-07 6.75884e-07 1 1 0 RICTOR 253260 broad.mit.edu 37 5 38950137 38950137 + Silent SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr5:38950137C>T ENST00000357387.3 - 31 3843 c.3813G>A c.(3811-3813)acG>acA p.T1271T RICTOR_ENST00000296782.5_Silent_p.T1271T NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1271 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TAGACTGTGGCGTCAAATAGT 0.453000 83 100 0 0 1 0 0 YIPF6 286451 broad.mit.edu 37 X 67731778 67731778 + Missense_Mutation SNP T T C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chrX:67731778T>C ENST00000462683.1 + 2 889 c.145T>C c.(145-147)Ttt>Ctt p.F49L YIPF6_ENST00000470730.1_3'UTR|YIPF6_ENST00000374622.2_Intron NM_173834.3 NP_776195.2 Q96EC8 YIPF6_HUMAN Yip1 domain family, member 6 49 endoplasmic reticulum|integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 7 CATCCGGGAGTTTGACAGCTC 0.418000 61 91 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5922122 5922122 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr9:5922122C>T ENST00000399933.3 - 8 3873 c.3874G>A c.(3874-3876)Gta>Ata p.V1292I KIAA2026_ENST00000381461.2_Missense_Mutation_p.V1262I NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1292 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TGTACTTTTACAACTCCAGTG 0.428000 40 28 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87079361 87079361 + Silent SNP T T A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr7:87079361T>A ENST00000265723.4 - 8 867 c.756A>T c.(754-756)gcA>gcT p.A252A ABCB4_ENST00000545634.1_Silent_p.A252A|ABCB4_ENST00000453593.1_Silent_p.A252A|ABCB4_ENST00000359206.3_Silent_p.A252A|ABCB4_ENST00000358400.3_Silent_p.A252A NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 252 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CCACGGCGCCTGCTTTTGCAT 0.478000 62 70 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132689528 132689528 + Silent SNP A A G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr9:132689528A>G ENST00000420781.1 - 8 953 c.735T>C c.(733-735)atT>atC p.I245I FNBP1_ENST00000446176.2_Silent_p.I245I|FNBP1_ENST00000355681.3_Silent_p.I245I Q96RU3 FNBP1_HUMAN formin binding protein 1 245 Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) GGCACTTCCCAATGATTGGGA 0.413000 T MLL AML 115 196 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49935887 49935887 + Missense_Mutation SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr19:49935887G>A ENST00000221485.3 - 9 1210 c.1039C>T c.(1039-1041)Ccc>Tcc p.P347S SLC17A7_ENST00000600601.1_Missense_Mutation_p.P280S|SLC17A7_ENST00000543531.1_Missense_Mutation_p.P335S NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 347 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) ACCAGGTGGGGCAGCGCGGAC 0.677000 18 2 0 0 1 0 0 FOXD3 27022 broad.mit.edu 37 1 63789368 63789368 + Silent SNP C C T rs114453593 byFrequency TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:63789368C>T ENST00000371116.2 + 1 639 c.639C>T c.(637-639)aaC>aaT p.N213N RP4-792G4.2_ENST00000427268.1_RNA NM_012183.2 NP_036315.1 Q9UJU5 FOXD3_HUMAN forkhead box D3 213 axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1) 5 GCAAGGGCAACTACTGGACCC 0.647000 9 197 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348670 197348670 + RNA SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr3:197348670G>T ENST00000418868.1 - 0 589 NR_003266.2 TTGAGGCTCTGTCCACCAAAT 0.478000 62 93 1.85135e-42 2.41481e-42 1 1 0 VSIG2 23584 broad.mit.edu 37 11 124617482 124617482 + Silent SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:124617482C>T ENST00000326621.5 - 7 1033 c.933G>A c.(931-933)tcG>tcA p.S311S NRGN_ENST00000526916.2_3'UTR NM_014312.3 NP_055127.2 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 311 Missing (in Ref. 1; AAD17522). integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) TGCTGGCAGACGAGGGTCTTT 0.542000 12 84 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230231612 230231612 + Silent SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:230231612G>A ENST00000341772.4 - 12 2213 c.2079C>T c.(2077-2079)gcC>gcT p.A693A NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 693 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGGATGCAATGGCATTGCTGA 0.552000 46 55 0 0 1 0 0 SH2B2 10603 broad.mit.edu 37 7 101944511 101944511 + Missense_Mutation SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr7:101944511G>A ENST00000536178.1 + 2 851 c.806G>A c.(805-807)cGc>cAc p.R269H SH2B2_ENST00000306803.8_Missense_Mutation_p.R226H O14492 SH2B2_HUMAN SH2B adaptor protein 2 226 PH. blood coagulation|insulin receptor signaling pathway|intracellular signal transduction cytosol|plasma membrane JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 9 CTGCTCCTGCGCAGGGCTGTG 0.682000 3 6 0 0 1 0 0 PKM 5315 broad.mit.edu 37 15 72502814 72502814 + Missense_Mutation SNP A A T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr15:72502814A>T ENST00000319622.6 - 4 708 c.252T>A c.(250-252)caT>caA p.H84Q PKM_ENST00000389093.3_Missense_Mutation_p.H84Q|PKM_ENST00000335181.5_Missense_Mutation_p.H84Q|PKM_ENST00000449901.2_Missense_Mutation_p.H69Q|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Missense_Mutation_p.H84Q|PKM_ENST00000565154.1_Missense_Mutation_p.H84Q|PKM_ENST00000565184.1_Missense_Mutation_p.H84Q NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 TGGTCTCCGCATGGTACTGGG 0.547000 30 70 0 0 1 0 0 OR1A1 8383 broad.mit.edu 37 17 3119133 3119133 + Missense_Mutation SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr17:3119133C>A ENST00000304094.1 + 1 219 c.219C>A c.(217-219)ttC>ttA p.F73L NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 ACATCTTCTTCTCATCGGTAA 0.478000 117 141 1.81606e-51 2.42141e-51 1 1 0 ADAM7 8756 broad.mit.edu 37 8 24324450 24324450 + Silent SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr8:24324450C>A ENST00000175238.6 + 6 611 c.528C>A c.(526-528)acC>acA p.T176T RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.T176T|ADAM7_ENST00000441335.2_Silent_p.T176T|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 176 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTAATTTTACCAGAAAAACTG 0.353000 43 55 5.78141e-17 6.545e-17 1 1 0 WDFY3 23001 broad.mit.edu 37 4 85630181 85630181 + Splice_Site SNP T T C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr4:85630181T>C ENST00000322366.6 - 52 8454 c.8046_splice c.e52-1 p.R2683_splice WDFY3_ENST00000295888.4_Splice_Site_p.R2700_splice Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2700 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATTTCACCTCTCTGGAAAAAG 0.333000 48 63 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54956904 54956904 + Silent SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chrX:54956904C>T ENST00000173898.7 + 12 3859 c.3747C>T c.(3745-3747)ttC>ttT p.F1249F TRO_ENST00000375041.2_Silent_p.F852F|TRO_ENST00000420798.2_Silent_p.F780F|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1249 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCGCTGGCTTCGGTGGAGGAC 0.617000 12 127 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128486043 128486043 + Splice_Site SNP G G C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr7:128486043G>C ENST00000325888.8 + 22 4051 c.e22-1 FLNC_ENST00000346177.6_Splice_Site NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGGGCTCCAGGTGTCCTGCG 0.637000 11 22 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79423698 79423698 + Missense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr14:79423698G>T ENST00000554719.1 + 8 1761 c.1270G>T c.(1270-1272)Gct>Tct p.A424S NRXN3_ENST00000335750.5_Missense_Mutation_p.A424S NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGATGATGTGGCTGAGGGTGA 0.468000 30 64 2.61193e-14 2.90215e-14 1 1 0 EMILIN2 84034 broad.mit.edu 37 18 2892185 2892185 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr18:2892185C>T ENST00000254528.3 + 4 2219 c.2060C>T c.(2059-2061)gCt>gTt p.A687V NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 687 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GAGCTGGATGCTTGTAAGGAA 0.597000 65 97 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37347768 37347768 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr17:37347768C>T ENST00000394303.3 - 3 457 c.250G>A c.(250-252)Gaa>Aaa p.E84K CACNB1_ENST00000394310.3_Missense_Mutation_p.E84K|CACNB1_ENST00000344140.5_Missense_Mutation_p.E84K|CACNB1_ENST00000582877.1_5'UTR NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 84 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CGCTCTGCTTCCTTCCTTAAG 0.572000 29 40 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800041 74800041 + Missense_Mutation SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr11:74800041C>A ENST00000305159.3 - 1 758 c.718G>T c.(718-720)Gca>Tca p.A240S NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 AAGGCTTTTGCCCGTCCTTCT 0.582000 23 29 3.8784e-16 4.34961e-16 1 1 0 IGHG3 3502 broad.mit.edu 37 14 106237030 106237030 + RNA SNP T T G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr14:106237030T>G ENST00000390551.2 - 0 320 CATGTGTGAGTTGTGTCACCA 0.567000 68 101 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189060940 189060940 + Missense_Mutation SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr4:189060940C>A ENST00000332517.3 + 1 368 c.228C>A c.(226-228)agC>agA p.S76R NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 76 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GGCTGGCCAGCATCGCCAGGC 0.627000 50 74 1.86633e-21 2.15346e-21 1 1 0 DCAF12L2 340578 broad.mit.edu 37 X 125299867 125299867 + Missense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chrX:125299867G>T ENST00000538699.1 - 2 121 c.41C>A c.(40-42)cCc>cAc p.P14H DCAF12L2_ENST00000360028.2_Missense_Mutation_p.P14H NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 14 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CTCGACCGCGGGCGCTTTCCG 0.751000 12 23 4.3838e-07 4.69693e-07 1 1 0 OR1A1 8383 broad.mit.edu 37 17 3119132 3119132 + Missense_Mutation SNP T T C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr17:3119132T>C ENST00000304094.1 + 1 218 c.218T>C c.(217-219)tTc>tCc p.F73S NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 GACATCTTCTTCTCATCGGTA 0.478000 118 141 0 0 1 0 0 IVL 3713 broad.mit.edu 37 1 152882791 152882791 + Missense_Mutation SNP T T G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:152882791T>G ENST00000368764.3 + 2 582 c.518T>G c.(517-519)cTg>cGg p.L173R IVL_ENST00000392667.2_Missense_Mutation_p.L27R P07476 INVO_HUMAN involucrin 173 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) gagggacagctgaagcacccg 0.627000 5 33 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602543 10602543 + Nonsense_Mutation SNP G G C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr19:10602543G>C ENST00000171111.5 - 3 1582 c.1035C>G c.(1033-1035)taC>taG p.Y345* KEAP1_ENST00000393623.2_Nonsense_Mutation_p.Y345* NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CACTGGGGTTGTAAGCCTCCA 0.716000 11 3 0 0 1 0 0 ZNF320 162967 broad.mit.edu 37 19 53367338 53367338 + Missense_Mutation SNP G G A rs4803014 by1000genomes TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr19:53367338G>A ENST00000597909.1 - 6 534 c.298C>T c.(298-300)Cgc>Tgc p.R100C A2RRD8 ZN320_HUMAN zinc finger protein 320 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TGTATAAAGCGTTCTGTGCAG 0.448000 4 41 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16528913 16528913 + Silent SNP C C A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:16528913C>A ENST00000270747.3 - 13 2200 c.2064G>T c.(2062-2064)acG>acT p.T688T ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 688 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CCACTCACTCCGTCCGGGCCC 0.682000 3 22 0.115264 0.115264 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40728853 40728853 + Nonsense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr12:40728853G>T ENST00000298910.7 + 40 5900 c.5842G>T c.(5842-5844)Gag>Tag p.E1948* NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1948 Protein kinase. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTTGGTGATGGAGTTAGCCTC 0.542000 40 69 4.07013e-28 5.03521e-28 1 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140871239 140871239 + Missense_Mutation SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr5:140871239G>A ENST00000252087.1 + 1 2432 c.2432G>A c.(2431-2433)cGc>cAc p.R811H PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 811 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCGGTCCCGCTCTAATACG 0.677000 3 24 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17804715 17804715 + Silent SNP A A G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr6:17804715A>G ENST00000378814.5 - 20 2330 c.2331T>C c.(2329-2331)ggT>ggC p.G777G KIF13A_ENST00000378816.5_Silent_p.G777G|KIF13A_ENST00000378843.2_Silent_p.G777G|KIF13A_ENST00000378826.2_Silent_p.G777G|KIF13A_ENST00000259711.6_Silent_p.G777G NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 777 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) AGAAAGGGTCACCTCGTTTTC 0.413000 3 19 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11942769 11942769 + Missense_Mutation SNP G G C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr19:11942769G>C ENST00000304060.5 + 4 942 c.778G>C c.(778-780)Gag>Cag p.E260Q NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TGAATATCAGGAGTGTGGGAA 0.383000 44 16 0 0 1 0 0 SMCO3 440087 broad.mit.edu 37 12 14959334 14959334 + Missense_Mutation SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr12:14959334G>T ENST00000316048.2 - 2 353 c.281C>A c.(280-282)aCc>aAc p.T94N C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron NM_001013698.2 NP_001013720.2 single-pass membrane protein with coiled-coil domains 3 TCTATAGAGGGTTGGCTCTAG 0.383000 48 82 2.68985e-26 3.29369e-26 1 1 0 UNC5C 8633 broad.mit.edu 37 4 96106276 96106276 + Silent SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr4:96106276G>T ENST00000453304.1 - 13 2556 c.2208C>A c.(2206-2208)ggC>ggA p.G736G NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 736 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGTGGGTGCTGCCTTTAAAAT 0.463000 68 102 1.31726e-23 1.56506e-23 1 1 0 ASTN1 460 broad.mit.edu 37 1 177133540 177133540 + Silent SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:177133540G>A ENST00000367654.2 - 1 286 c.273C>T c.(271-273)taC>taT p.Y91Y ASTN1_ENST00000361833.2_Silent_p.Y91Y|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.Y91Y|ASTN1_ENST00000424564.2_Silent_p.Y91Y O14525 ASTN1_HUMAN astrotactin 1 91 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 CCAGCACGAAGTAGGGCAGCT 0.697000 13 32 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 191861870 191861870 + Silent SNP T T C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr3:191861870T>C ENST00000454309.2 - 5 1485 c.660A>G c.(658-660)caA>caG p.Q220Q FGF12_ENST00000430714.1_Silent_p.Q121Q|FGF12_ENST00000450716.1_Silent_p.Q158Q|FGF12_ENST00000445105.1_Silent_p.Q158Q|FGF12_ENST00000264730.3_Silent_p.Q158Q NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 220 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTGAACGCCCTTGTTTTTCTC 0.393000 91 147 0 0 1 0 0 ZNF530 348327 broad.mit.edu 37 19 58117187 58117187 + Silent SNP A A C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr19:58117187A>C ENST00000332854.6 + 3 514 c.294A>C c.(292-294)ccA>ccC p.P98P ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTGTACCCCAGTCCTGAGAG 0.473000 8 86 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225592188 225592188 + Silent SNP T T C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:225592188T>C ENST00000338179.2 - 13 1730 c.1605A>G c.(1603-1605)ctA>ctG p.L535L LBR_ENST00000272163.4_Silent_p.L535L NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 535 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) ATCCAGAAACTAGAAGATTTT 0.378000 17 74 0 0 1 0 0 KIF20A 10112 broad.mit.edu 37 5 137521326 137521326 + Silent SNP C C T rs144189626 byFrequency TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr5:137521326C>T ENST00000394894.3 + 16 2278 c.2052C>T c.(2050-2052)gcC>gcT p.A684A KIF20A_ENST00000508792.1_Silent_p.A666A NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 684 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAGCTTCTGCCTCCACCCAGC 0.512000 8 80 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200959157 200959157 + Silent SNP G G C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:200959157G>C ENST00000332129.2 - 21 3361 c.3045C>G c.(3043-3045)tcC>tcG p.S1015S KIF21B_ENST00000360529.5_Silent_p.S1015S|KIF21B_ENST00000422435.2_Silent_p.S1015S|KIF21B_ENST00000461742.2_Silent_p.S1015S NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1015 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 ATGTGTCTGTGGAGTCCAGCT 0.647000 20 116 0 0 1 0 0 PVALB 5816 broad.mit.edu 37 22 37209741 37209741 + Missense_Mutation SNP T T A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr22:37209741T>A ENST00000216200.5 - 4 308 c.253A>T c.(253-255)Atg>Ttg p.M85L PVALB_ENST00000417718.2_Missense_Mutation_p.M85L|PVALB_ENST00000404171.1_Missense_Mutation_p.M53L NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 85 EF-hand 2. calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 GCCATCAGCATCTTGGTTTCT 0.547000 83 112 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88259733 88259733 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr10:88259733C>T ENST00000298767.5 - 3 1739 c.1267G>A c.(1267-1269)Gat>Aat p.D423N NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 423 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 AGTTTAACATCCTTTTTGGAT 0.353000 28 60 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 101947148 101947148 + Missense_Mutation SNP A A C TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr4:101947148A>C ENST00000394854.3 - 14 2123 c.1440T>G c.(1438-1440)aaT>aaG p.N480K PPP3CA_ENST00000512215.1_Missense_Mutation_p.N248K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.N470K|PPP3CA_ENST00000323055.6_Missense_Mutation_p.N428K|PPP3CA_ENST00000507176.1_Missense_Mutation_p.N382K|PPP3CA_ENST00000523694.2_Missense_Mutation_p.N413K NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 480 Inhibitory domain. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) GCATCCTCTCATTAATTCGGT 0.458000 74 101 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188249 152188249 + Silent SNP G G T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:152188249G>T ENST00000368801.2 - 3 5931 c.5856C>A c.(5854-5856)ggC>ggA p.G1952G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1952 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCCATGTCGGCCACGGCTAG 0.617000 124 1098 1.24833e-42 1.64615e-42 1 1 0 EFHD1 80303 broad.mit.edu 37 2 233527526 233527526 + Missense_Mutation SNP G G T rs142523596 byFrequency TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:233527526G>T ENST00000264059.3 + 2 794 c.317G>T c.(316-318)cGg>cTg p.R106L EFHD1_ENST00000410095.1_5'UTR|EFHD1_ENST00000409708.1_5'UTR|EFHD1_ENST00000409613.1_Missense_Mutation_p.R10L NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 106 EF-hand 1. calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) GACGCTGGGCGGGATGGCTTC 0.542000 16 33 2.48551e-13 2.68703e-13 1 1 0 PPP1R21 129285 broad.mit.edu 37 2 48688354 48688354 + Missense_Mutation SNP T T C rs150896282 TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:48688354T>C ENST00000294952.8 + 7 834 c.677T>C c.(676-678)gTa>gCa p.V226A PPP1R21_ENST00000449090.2_Missense_Mutation_p.V226A|PPP1R21_ENST00000281394.4_Missense_Mutation_p.V226A NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 226 endometrium(2)|kidney(4)|lung(9) 15 AATGAAAAAGTACCTTTTAAT 0.274000 4 45 0 0 1 0 0 AICDA 57379 broad.mit.edu 37 12 8757414 8757414 + Missense_Mutation SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr12:8757414G>A ENST00000229335.6 - 4 635 c.532C>T c.(532-534)Cgc>Tgc p.R178C AICDA_ENST00000537228.1_Missense_Mutation_p.R168C NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 178 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding p.R178C(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) AAAAGGATGCGCCGAAGCTGT 0.378000 89 111 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965324 88965324 + Missense_Mutation SNP C C T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr7:88965324C>T ENST00000333190.4 + 4 3637 c.3028C>T c.(3028-3030)Cac>Tac p.H1010Y NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1010 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) CAAAAGTTCACACACAAATAA 0.343000 HNSCC(36;0.09) 21 53 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61689414 61689414 + Silent SNP G G A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr16:61689414G>A ENST00000577390.1 - 11 2820 c.1866C>T c.(1864-1866)ggC>ggT p.G622G CDH8_ENST00000299345.6_Silent_p.G622G|CDH8_ENST00000577730.1_Silent_p.G622G NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 622 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G622G(2) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CAATTAAGGCGCCCATACTGA 0.448000 60 62 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97856868 97856868 + Missense_Mutation SNP C C G TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr2:97856868C>G ENST00000420699.2 + 36 2541 c.2297C>G c.(2296-2298)tCt>tGt p.S766C ANKRD36_ENST00000461153.2_Missense_Mutation_p.S766C NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 766 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 GAGAAAGATTCTGTTTCGAAC 0.299000 6 10 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 7 278 --- --- --- --- CCT3 7203 broad.mit.edu 37 1 156280743 156280744 + Frame_Shift_Del DEL GA GA - TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:156280743_156280744delGA ENST00000295688.3 - 12 1678_1679 c.1398_1399delTC c.(1396-1401)ctggfs p.LR466fs CCT3_ENST00000472765.2_Frame_Shift_Del_p.LR421fs|CCT3_ENST00000368259.2_Frame_Shift_Del_p.LR428fs|CCT3_ENST00000368261.3_Frame_Shift_Del_p.LR421fs NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 466 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GAACTCACCCGAAGGGAGGTAA 0.515 34 124 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237886443 237886444 + Frame_Shift_Ins INS - - T TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr1:237886443_237886444insT ENST00000366574.2 + 74 10887_10888 c.10570_10571insT c.(10570-10572)tagfs p.*3524fs RYR2_ENST00000542537.1_Frame_Shift_Ins_p.*3508fs|RYR2_ENST00000360064.6_Frame_Shift_Ins_p.*3522fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3524 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) GGATCCTGCTATTAGATGGCAA 0.396 8 392 --- --- --- --- KRT84 3890 broad.mit.edu 37 12 52777428 52777429 + Frame_Shift_Ins INS - - G rs138666354 byFrequency TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr12:52777428_52777429insG ENST00000257951.3 - 2 766_767 c.700_701insC c.(700-702)gctfs p.A234fs RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 234 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCTGGAGCCGGGCCTGATCA 0.569 25 65 --- --- --- --- HIF1A 3091 broad.mit.edu 37 14 62187197 62187197 + Frame_Shift_Del DEL C C - TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr14:62187197delC ENST00000394997.1 + 2 401 c.136delC c.(136-138)cafs p.P46fs HIF1A_ENST00000337138.4_Frame_Shift_Del_p.P45fs|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000539097.1_Frame_Shift_Del_p.P69fs|HIF1A_ENST00000323441.6_Frame_Shift_Del_p.P45fs|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_5'UTR Q16665 HIF1A_HUMAN hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 45 Helix-loop-helix motif.|Interaction with TSGA10 (By similarity). cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) TCATCAGTTGCCACTTCCACA 0.438 33 80 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54803996 54803997 + Frame_Shift_Ins INS - - A TCGA-MP-A5C7-01A-11D-A25L-08 TCGA-MP-A5C7-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0649C3EE-C529-43BF-964B-00A19A065644 4184DDEF-341B-48A5-9392-6B2C8F30A825 g.chr15:54803996_54803997insA ENST00000545554.1 + 23 5425_5426 c.5425_5426insA c.(5425-5427)aaafs p.K1809fs UNC13C_ENST00000537900.1_Frame_Shift_Ins_p.K1807fs|UNC13C_ENST00000260323.11_Frame_Shift_Ins_p.K1809fs Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1809 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) GGTCCAGCTGGAAAAAATGTTT 0.332 15 14 --- --- --- ---