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 RHOC 389 broad.mit.edu 37 1 113245708 113245708 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:113245708C>T ENST00000285735.2 - 4 1399 c.190G>A c.(190-192)Gaa>Aaa p.E64K RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E|RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K P08134 RHOC_HUMAN ras homolog family member C 64 axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCATAGTCTTCCTGCCCTGCT 0.612 9 46 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155891693 155891693 + Missense_Mutation SNP G G C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:155891693G>C ENST00000368320.3 - 9 996 c.971C>G c.(970-972)tCt>tGt p.S324C KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S324C Q7Z7F0 K0907_HUMAN KIAA0907 324 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CACAAATCTAGAGTATTCAGC 0.363 9 24 --- --- --- --- KCNT2 343450 broad.mit.edu 37 1 196285089 196285089 + Missense_Mutation SNP T T A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:196285089T>A ENST00000367433.5 - 20 2445 c.2344A>T c.(2344-2346)Acc>Tcc p.T782S KCNT2_ENST00000609185.1_Missense_Mutation_p.T732S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.T806S|KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000451324.2_3'UTR NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 806 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 GCACTCATGGTGCTCTCTTTA 0.433 14 23 --- --- --- --- KCNT2 343450 broad.mit.edu 37 1 196398768 196398768 + Missense_Mutation SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:196398768C>A ENST00000367433.5 - 9 859 c.758G>T c.(757-759)tGg>tTg p.W253L KCNT2_ENST00000609185.1_Missense_Mutation_p.W253L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.W253L|KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000451324.2_Intron NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 253 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 CTTGGAGGACCATGTTTCAGG 0.408 15 28 --- --- --- --- IL20 50604 broad.mit.edu 37 1 207040805 207040805 + Splice_Site SNP T T C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr1:207040805T>C ENST00000367098.1 + 5 816 c.e5+2 IL20_ENST00000367096.3_Splice_Site|IL20_ENST00000391930.2_Intron Q9NYY1 IL20_HUMAN interleukin 20 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) TTTGAAAAGGTATATGCGACT 0.428 3 70 --- --- --- --- TCF7L1 83439 broad.mit.edu 37 2 85533435 85533435 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr2:85533435G>A ENST00000282111.3 + 9 1371 c.1096G>A c.(1096-1098)Gct>Act p.A366T NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 366 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CAAGGTGGTGGCTGAGTGCAC 0.542 11 72 --- --- --- --- TLK1 9874 broad.mit.edu 37 2 171862744 171862744 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr2:171862744G>T ENST00000442919.2 - 18 2288 c.1673C>A c.(1672-1674)aCt>aAt p.T558N TLK1_ENST00000431350.2_Missense_Mutation_p.T606N|TLK1_ENST00000360843.3_Missense_Mutation_p.T627N|TLK1_ENST00000434911.2_Missense_Mutation_p.T510N|TLK1_ENST00000521943.1_Missense_Mutation_p.T558N NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 606 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 ACCAAAATCAGTGATTTTGAT 0.363 6 59 --- --- --- --- STK25 10494 broad.mit.edu 37 2 242438194 242438194 + Silent SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr2:242438194G>T ENST00000316586.4 - 8 1126 c.777C>A c.(775-777)ccC>ccA p.P259P STK25_ENST00000405883.3_Silent_p.P182P|STK25_ENST00000405585.1_Silent_p.P182P|STK25_ENST00000401869.1_Silent_p.P259P|STK25_ENST00000543554.1_Silent_p.P165P|STK25_ENST00000403346.3_Silent_p.P259P|STK25_ENST00000535007.1_Silent_p.P165P|STK25_ENST00000478403.1_5'UTR NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 259 Protein kinase. response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CCTTGGCCGTGGGCCGCTGCA 0.617 4 122 --- --- --- --- SACM1L 22908 broad.mit.edu 37 3 45776852 45776852 + Missense_Mutation SNP A A G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:45776852A>G ENST00000389061.5 + 14 1430 c.1226A>G c.(1225-1227)cAg>cGg p.Q409R SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 409 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) CGTTCACTTCAGGCCCAACTT 0.383 3 80 --- --- --- --- DHX30 22907 broad.mit.edu 37 3 47884611 47884611 + Missense_Mutation SNP C C G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:47884611C>G ENST00000446256.2 + 10 1260 c.688C>G c.(688-690)Cat>Gat p.H230D DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000445061.1_Missense_Mutation_p.H269D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 269 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CATGCAGTTCCATACTGTGGG 0.537 56 143 --- --- --- --- ARL6 84100 broad.mit.edu 37 3 97499479 97499479 + Missense_Mutation SNP A A G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:97499479A>G ENST00000463745.1 + 4 683 c.206A>G c.(205-207)gAc>gGc p.D69G ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000394206.1_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 69 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) ACAGTGTTTGACATGTCAGGT 0.269 3 85 --- --- --- --- GK5 256356 broad.mit.edu 37 3 141896383 141896383 + Missense_Mutation SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr3:141896383C>A ENST00000392993.2 - 12 1235 c.1084G>T c.(1084-1086)Gcc>Tcc p.A362S NM_001039547.2 NP_001034636.1 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 362 glycerol metabolic process ATP binding|glycerol kinase activity kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 AAACTTTTGGCCATTTTTTCA 0.333 13 107 --- --- --- --- JAKMIP1 152789 broad.mit.edu 37 4 6107489 6107489 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr4:6107489C>T ENST00000409021.3 - 3 784 c.335G>A c.(334-336)cGg>cAg p.R112Q JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 112 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGCCTGCAGCCGCTGCAGCTC 0.716 6 23 --- --- --- --- IRX2 153572 broad.mit.edu 37 5 2747711 2747711 + Silent SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr5:2747711G>T ENST00000382611.6 - 4 1631 c.1383C>A c.(1381-1383)acC>acA p.T461T IRX2_ENST00000302057.5_Silent_p.T461T NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 461 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) CGCCAACCACGGTGCAGCCCT 0.652 4 71 --- --- --- --- PPIC 5480 broad.mit.edu 37 5 122361577 122361577 + Missense_Mutation SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr5:122361577C>A ENST00000306442.4 - 4 527 c.412G>T c.(412-414)Ggg>Tgg p.G138W NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 138 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) GTGTCAGGCCCAGCGTTGGCC 0.493 4 47 --- --- --- --- RNASET2 8635 broad.mit.edu 37 6 167343248 167343248 + Missense_Mutation SNP T T G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr6:167343248T>G ENST00000366855.6 - 10 1160 c.485A>C c.(484-486)gAa>gCa p.E162A RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000508775.1_Missense_Mutation_p.E200A|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A O00584 RNT2_HUMAN ribonuclease T2 200 RNA catabolic process extracellular region ribonuclease T2 activity|RNA binding large_intestine(4)|lung(4) 8 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665) GAGGCACAGTTCTATCTGACC 0.493 4 161 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82544746 82544746 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr7:82544746G>T ENST00000333891.9 - 7 12893 c.12556C>A c.(12556-12558)Caa>Aaa p.Q4186K PCLO_ENST00000423517.2_Missense_Mutation_p.Q4186K|PCLO_ENST00000437081.1_Missense_Mutation_p.Q906K NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 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 GACTGCTTTTGATAAAGTATG 0.353 4 98 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91621525 91621525 + Splice_Site SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr7:91621525G>T ENST00000359028.2 + 5 666 c.441G>T c.(439-441)agG>agT p.R147S AKAP9_ENST00000358100.2_Splice_Site_p.R147S|AKAP9_ENST00000394564.1_Splice_Site_p.R135S|AKAP9_ENST00000356239.3_Splice_Site_p.R135S Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 147 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATTTATTAAGGGTACAGTATT 0.294 T BRAF papillary thyroid 16 128 --- --- --- --- CTTNBP2 83992 broad.mit.edu 37 7 117400554 117400554 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr7:117400554G>T ENST00000160373.3 - 10 3198 c.3107C>A c.(3106-3108)aCt>aAt p.T1036N NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1036 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTTATTGCAAGTCACGTCTTC 0.453 51 78 --- --- --- --- NUDCD1 84955 broad.mit.edu 37 8 110308624 110308624 + Nonsense_Mutation SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr8:110308624C>A ENST00000239690.4 - 3 822 c.448G>T c.(448-450)Gaa>Taa p.E150* NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.E121* NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 150 breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) TCCCATTTTTCAGAAGCGCTA 0.388 4 118 --- --- --- --- FAM135B 51059 broad.mit.edu 37 8 139209802 139209802 + Silent SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr8:139209802C>T ENST00000395297.1 - 8 950 c.780G>A c.(778-780)ctG>ctA p.L260L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 260 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCATGATCACCAGGAAGTGGA 0.617 HNSCC(54;0.14) 14 69 --- --- --- --- FOCAD 54914 broad.mit.edu 37 9 20978420 20978420 + Missense_Mutation SNP G G C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr9:20978420G>C ENST00000380249.1 + 39 4708 c.4344G>C c.(4342-4344)ttG>ttC p.L1448F FOCAD_ENST00000338382.6_Missense_Mutation_p.L1448F|FOCAD_ENST00000605086.1_Missense_Mutation_p.L884F NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1448 integral to membrane binding TATTGGGCTTGTGGGTGACAC 0.458 9 26 --- --- --- --- HRAS 3265 broad.mit.edu 37 11 533476 533476 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:533476C>T ENST00000417302.1 - 4 614 c.427G>A c.(427-429)Gag>Aag p.E143K HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000451590.1_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 143 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GCCGAGGTCTCGATGTAGGGG 0.677 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 24 127 --- --- --- --- PIDD 55367 broad.mit.edu 37 11 803450 803450 + Silent SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:803450G>A ENST00000347755.5 - 3 574 c.433C>T c.(433-435)Ctg>Ttg p.L145L PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L145L NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 145 apoptosis|signal transduction cytoplasm|nucleus death receptor binding CGCATCTGCAGGACACAGGCC 0.657 4 85 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63137867 63137867 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:63137867G>T ENST00000279178.3 + 1 588 c.339G>T c.(337-339)atG>atT p.M113I SLC22A9_ENST00000310969.4_Missense_Mutation_p.M113I NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 113 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 ACGCAGACATGGAGCCCTGTG 0.522 4 102 --- --- --- --- SYT12 91683 broad.mit.edu 37 11 66812168 66812168 + Silent SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:66812168C>T ENST00000393946.2 + 9 2104 c.942C>T c.(940-942)aaC>aaT p.N314N SYT12_ENST00000527043.1_Silent_p.N314N|SYT12_ENST00000525457.1_Silent_p.N314N Q8IV01 SYT12_HUMAN synaptotagmin XII 314 C2 2. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 TCTGGACCAACGACAAGACCA 0.657 26 67 --- --- --- --- TRPC6 7225 broad.mit.edu 37 11 101375336 101375336 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr11:101375336G>T ENST00000344327.3 - 2 788 c.364C>A c.(364-366)Cac>Aac p.H122N TRPC6_ENST00000348423.4_Missense_Mutation_p.H122N|TRPC6_ENST00000360497.4_Missense_Mutation_p.H122N|TRPC6_ENST00000532133.1_Missense_Mutation_p.H122N NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 122 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TTGAGTGAGTGGCATTCTTCT 0.458 4 116 --- --- --- --- MAP3K12 7786 broad.mit.edu 37 12 53878999 53878999 + Splice_Site SNP C C G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr12:53878999C>G ENST00000267079.2 - 7 1107 c.e7-1 MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547035.1_Splice_Site NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 GCCAAAGGACCTAGGGATGAG 0.542 23 50 --- --- --- --- SHMT2 6472 broad.mit.edu 37 12 57626237 57626237 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr12:57626237C>T ENST00000393827.4 + 5 564 c.308C>T c.(307-309)cCc>cTc p.P103L SHMT2_ENST00000414700.3_Splice_Site_p.P178L|SHMT2_ENST00000449049.3_Splice_Site_p.P178L|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000553474.1_Splice_Site_p.P178L|SHMT2_ENST00000328923.3_Splice_Site_p.P199L P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 199 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TCTGTCCAGCCCAAAACTGGC 0.587 43 105 --- --- --- --- PTPRB 5787 broad.mit.edu 37 12 70974869 70974869 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr12:70974869G>T ENST00000334414.6 - 10 2569 c.2525C>A c.(2524-2526)aCa>aAa p.T842K PTPRB_ENST00000451516.2_Missense_Mutation_p.T534K|PTPRB_ENST00000551525.1_Missense_Mutation_p.T841K|PTPRB_ENST00000550857.1_Missense_Mutation_p.T534K|PTPRB_ENST00000261266.5_Missense_Mutation_p.T624K|PTPRB_ENST00000550358.1_Missense_Mutation_p.T842K|PTPRB_ENST00000538708.1_Missense_Mutation_p.T624K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 624 Fibronectin type-III 10. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACTCACTGTTGTTACCACCAC 0.463 4 137 --- --- --- --- CLYBL 171425 broad.mit.edu 37 13 100518573 100518573 + Silent SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr13:100518573C>A ENST00000376355.3 + 5 643 c.612C>A c.(610-612)ctC>ctA p.L204L CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000444838.2_Silent_p.L204L|CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000376360.1_Silent_p.L238L NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 238 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTTTGGTCTCCAAGCCATAG 0.478 28 62 --- --- --- --- LOXL1 4016 broad.mit.edu 37 15 74219535 74219535 + Silent SNP G G C TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr15:74219535G>C ENST00000261921.7 + 1 737 c.411G>C c.(409-411)acG>acC p.T137T LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA|LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 137 protein deamination extracellular space copper ion binding p.T137T(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 GGGACAGCACGGGCATGGCCC 0.751 3 56 --- --- --- --- LOC645752 645752 broad.mit.edu 37 15 78217290 78217290 + RNA SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr15:78217290G>A ENST00000567226.1 - 0 212 CCCCAGGTGAGTGGCAACCAC 0.527 6 102 --- --- --- --- KIAA1199 57214 broad.mit.edu 37 15 81221373 81221373 + Missense_Mutation SNP C C A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr15:81221373C>A ENST00000394685.3 + 21 2889 c.2470C>A c.(2470-2472)Ccg>Acg p.P824T KIAA1199_ENST00000356249.5_Missense_Mutation_p.P824T|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.P824T Q8WUJ3 K1199_HUMAN KIAA1199 824 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGGAACCTTCCCGTATGACGA 0.517 4 71 --- --- --- --- ADCY7 113 broad.mit.edu 37 16 50327346 50327346 + Missense_Mutation SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr16:50327346G>T ENST00000394697.2 + 6 1109 c.769G>T c.(769-771)Ggt>Tgt p.G257C ADCY7_ENST00000538642.1_Missense_Mutation_p.G257C|ADCY7_ENST00000537579.1_Missense_Mutation_p.G257C|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.G257C|ADCY7_ENST00000254235.3_Missense_Mutation_p.G257C P51828 ADCY7_HUMAN adenylate cyclase 7 257 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CAAGGAGCATGGTGACCGTCG 0.582 5 107 --- --- --- --- CDK5RAP3 80279 broad.mit.edu 37 17 46048774 46048774 + Splice_Site SNP G G T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr17:46048774G>T ENST00000536708.2 + 2 236 c.e2+1 CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 AAGCTGCTCGGTAGGAGGGGG 0.672 8 17 --- --- --- --- QTRT1 81890 broad.mit.edu 37 19 10812880 10812880 + Missense_Mutation SNP A A G TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr19:10812880A>G ENST00000250237.5 + 3 411 c.401A>G c.(400-402)aAt>aGt p.N134S QTRT1_ENST00000585885.1_3'UTR NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 134 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) TACGACGGCAATGAGACCCTG 0.637 25 58 --- --- --- --- SIPA1L3 23094 broad.mit.edu 37 19 38643547 38643547 + Missense_Mutation SNP G G A TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr19:38643547G>A ENST00000222345.6 + 13 4110 c.3601G>A c.(3601-3603)Ggc>Agc p.G1201S NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1201 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GACGTCCAGCGGCGACTCCTC 0.662 6 119 --- --- --- --- LUZP4 51213 broad.mit.edu 37 X 114541233 114541233 + Missense_Mutation SNP C C T TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chrX:114541233C>T ENST00000371920.3 + 4 813 c.806C>T c.(805-807)aCt>aTt p.T269I LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 269 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 CTCATAGCCACTCAGAGAGAT 0.468 49 21 --- --- --- --- LHFPL3 375612 broad.mit.edu 37 7 104377297 104377297 + Frame_Shift_Del DEL A A - TCGA-G9-6361-01A-21D-1961-08 TCGA-G9-6361-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx ae721ffe-45da-4029-bcbd-6e218f607de2 1977a26b-0d18-495c-8a57-ac73a2953e90 g.chr7:104377297delA ENST00000535008.1 + 4 745 c.621delA c.(619-621)gcafs p.A207fs LHFPL3_ENST00000401970.2_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 193 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 CATTTCTAGCATTTGTGCTTG 0.448 9 12 --- --- --- ---