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 GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks ref_context gc_content COSMIC_n_overlapping_mutations ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_Chromosome ESP_Position ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term HGNC_AccessionNumbers HGNC_CCDSIDs HGNC_Chromosome HGNC_DateModified HGNC_DateNameChanged HGNC_DateSymbolChanged HGNC_EnsemblGeneID HGNC_EnsemblIDsuppliedbyEnsembl HGNC_Genefamilydescription HGNC_HGNCID HGNC_LocusGroup HGNC_LocusType HGNC_NameSynonyms HGNC_OMIMIDsuppliedbyNCBI HGNC_PreviousNames HGNC_PreviousSymbols HGNC_PubmedIDs HGNC_RecordType HGNC_RefSeqsuppliedbyNCBI HGNC_Status HGNC_Synonyms HGNC_UCSCIDsuppliedbyUCSC HGNC_UniProtIDsuppliedbyUniProt HGNC_VEGAIDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change UniProt_alt_uniprot_accessions annotation_transcript build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript init_n_lod init_t_lod isArtifactMode n_alt_count n_ref_count oxoGCut pox pox_cutoff qox refseq_mrna_id t_alt_count t_lod_fstar t_ref_count tumor_f FAM69B 0 broad.mit.edu hg19 9 139620492 139620492 + RNA SNP A A G TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr9:139620492A>G ENST00000414282.1 - 0 451 SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000436596.1_RNA TCCCTCATGGAGCAAACCAGG 0.502 0 SO:0001628 intergenic_variant CCDS7004.1 9q34.3 2012-08-03 ENSG00000165716 ENSG00000165716 28290 protein-coding gene gene with protein product 614543 21334309 Standard NM_152421 Approved MGC20262, C9orf136 uc004cik.3 Q5VUD6 OTTHUMG00000020940 9.37:g.139620492A>G Q5VUD7|Q8N5N0|Q8WYU5 ENST00000371692.4 37 CCDS7004.1 FAM69B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055102.1 -0.705156 0 12 86 0 0 1 0 NM_152421 3 6.972752 38 0.073171 IGSF11 152404 broad.mit.edu hg19 3 118824025 118824025 + Silent SNP T T C TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr3:118824025T>C ENST00000354673.2 - 3 395 c.15A>G c.(13-15)gaA>gaG p.E5E IGSF11_ENST00000441144.2_Silent_p.E5E|IGSF11_ENST00000425327.2_Silent_p.E5E NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 0 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AGAGCAAAAGTTCCACCAGAG 0.358 0 110.0 106.0 107.0 3 118824025 2203 4300 6503 SO:0001819 synonymous_variant AB079879 CCDS2983.1, CCDS46891.1 3q21.2 2013-01-11 ENSG00000144847 ENSG00000144847 """Immunoglobulin superfamily / I-set domain containing""" 16669 protein-coding gene gene with protein product """cancer/testis antigen 119""" 608351 12207903 Standard XM_006713516 Approved BT-IgSF, MGC35227, Igsf13, VSIG3, CT119 uc003ebw.3 Q5DX21 OTTHUMG00000159387 ENST00000425327.2:c.15A>G 3.37:g.118824025T>C C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2 ENST00000425327.2 37 CCDS2983.1 IGSF11-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000355074.2 38.996391 0 -21 36 0 0 1 0 12 39.029962 14 0.461538 ITPR2 3709 ucsc.edu hg19 12 26596576 26596576 + Missense_Mutation SNP C C T TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 C C Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 TTTATTGTGGCGGGCCAACTA 0.423 0 129.0 119.0 122.0 12 26596576 1877 4116 5993 SO:0001583 missense D26350 CCDS41764.1 12p11.23 2014-07-18 2011-04-28 ENSG00000123104 ENSG00000123104 """Ion channels / Inositol triphosphate receptors""" 6181 protein-coding gene gene with protein product """cilia and flagella associated protein 48""" 600144 """inositol 1,4,5-triphosphate receptor, type 2""" 8081734 Standard XM_006719064 Approved IP3R2, CFAP48 uc001rhg.3 Q14571 OTTHUMG00000169181 ENST00000381340.3:c.6350G>A 12.37:g.26596576C>T ENSP00000370744:p.Arg2117His O94773 ENST00000381340.3 37 CCDS41764.1 . . . . . . . . . . C 17.05 3.290020 0.59976 . . ENSG00000123104 ENST00000381340 D 0.92048 -2.96 4.87 4.87 0.63330 . 0.000000 0.85682 D 0.000000 D 0.94009 0.8081 L 0.41710 1.295 0.80722 D 1 D 0.89917 1.0 D 0.78314 0.991 D 0.93283 0.6662 10 0.40728 T 0.16 . 18.5753 0.91153 0.0:1.0:0.0:0.0 . 2117 Q14571 ITPR2_HUMAN H 2117 ENSP00000370744:R2117H ENSP00000370744:R2117H R - 2 0 ITPR2 26487843 1.000000 0.71417 1.000000 0.80357 0.950000 0.60333 7.342000 0.79310 2.692000 0.91855 0.655000 0.94253 CGC ITPR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000402732.1 13 67 NM_002223 4 38 KIAA1549 57670 broad.mit.edu hg19 7 138552831 138552831 + Missense_Mutation SNP C C T TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr7:138552831C>T ENST00000440172.1 - 15 4867 c.4819G>A c.(4819-4821)Gtc>Atc p.V1607I KIAA1549_ENST00000242365.4_Missense_Mutation_p.V1557I|KIAA1549_ENST00000422774.1_Missense_Mutation_p.V1607I NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1607 integral to membrane large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CAGCCGTTGACCTGGTGTTTC 0.552 0 50.0 58.0 56.0 7 138552831 2057 4191 6248 SO:0001583 missense CCDS47723.1, CCDS47723.2, CCDS56513.1 7q34 2009-10-09 ENSG00000122778 ENSG00000122778 22219 protein-coding gene gene with protein product 613344 Standard NM_020910 Approved uc011kql.2 Q9HCM3 OTTHUMG00000157214 ENST00000422774.1:c.4819G>A 7.37:g.138552831C>T ENSP00000416040:p.Val1607Ile B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3 ENST00000422774.1 37 CCDS56513.1 . . . . . . . . . . C 6.767 0.510352 0.12883 . . ENSG00000122778 ENST00000440172;ENST00000242365;ENST00000422774 T;T;T 0.21734 1.99;2.0;2.0 4.53 3.64 0.41730 . 0.324362 0.32655 N 0.005815 T 0.04497 0.0123 N 0.00707 -1.245 0.26509 N 0.974629 B;B;B;B 0.29552 0.248;0.0;0.208;0.0 B;B;B;B 0.25884 0.064;0.001;0.038;0.001 T 0.37798 -0.9690 10 0.06625 T 0.88 . 8.2926 0.31967 0.0:0.8437:0.0:0.1563 . 1607;391;1607;391 Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3 K1549_HUMAN;.;.;. I 1607;1557;1607 ENSP00000406661:V1607I;ENSP00000242365:V1557I;ENSP00000416040:V1607I ENSP00000242365:V1557I V - 1 0 KIAA1549 138203371 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 1.542000 0.36137 2.493000 0.84123 0.655000 0.94253 GTC KIAA1549-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000348092.1 23.193056 0 -11 32 0 0 1 0 8 23.782943 16 0.333333 RNF213 57674 broad.mit.edu hg19 17 78332109 78332109 + Silent SNP C C T TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr17:78332109C>T ENST00000582970.1 + 37 11027 c.10884C>T c.(10882-10884)gtC>gtT p.V3628V RNF213_ENST00000336301.6_Silent_p.V1701V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.V3677V NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGAAGCGGGTCCAAGGTGCTG 0.572 0 70.0 61.0 64.0 17 78332109 2203 4300 6503 SO:0001819 synonymous_variant AK074030 CCDS58606.1 17q25.3 2013-01-09 2007-02-08 2007-02-08 ENSG00000173821 """RING-type (C3HC4) zinc fingers""" 14539 protein-coding gene gene with protein product 613768 """chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2""" C17orf27, KIAA1618, MYMY2 10997877, 21048783, 21799892 Standard NM_020954 Approved KIAA1554, NET57 uc021uen.2 Q63HN8 ENST00000508628.2:c.11031C>T 17.37:g.78332109C>T C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8 ENST00000508628.2 37 RNF213-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding protein_coding OTTHUMT00000364861.3 33.488526 0 -19 43 0 0 1 0 NM_020914 12 34.373886 24 0.333333 SCN11A 11280 broad.mit.edu hg19 3 38938527 38938527 + Missense_Mutation SNP G G T TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr3:38938527G>T ENST00000450244.1 - 14 2410 c.2212C>A c.(2212-2214)Ccg>Acg p.P738T SCN11A_ENST00000456224.3_Missense_Mutation_p.P738T|SCN11A_ENST00000444237.2_Missense_Mutation_p.P738T|SCN11A_ENST00000302328.3_Missense_Mutation_p.P738T Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 738 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) GGGCCTGTCGGGTTACAGAGT 0.502 0 101.0 92.0 95.0 3 38938527 2203 4300 6503 SO:0001583 missense AF126739 CCDS33737.1 3p22.2 2012-02-26 2007-01-23 ENSG00000168356 ENSG00000168356 """Sodium channels"", ""Voltage-gated ion channels / Sodium channels""" 10583 protein-coding gene gene with protein product 604385 """sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha""" SCN12A 10444332, 16382098 Standard NM_014139 Approved Nav1.9, NaN, SNS-2 uc021wvy.1 Q9UI33 OTTHUMG00000048246 ENST00000302328.3:c.2212C>A 3.37:g.38938527G>T ENSP00000307599:p.Pro738Thr A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0 ENST00000302328.3 37 CCDS33737.1 . . . . . . . . . . G 0.972 -0.699833 0.03279 . . ENSG00000168356 ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237 D;D;D;D 0.96136 -3.92;-3.92;-3.87;-3.74 0.225 0.225 0.15325 Ion transport (1); 17.326200 0.00166 N 0.000001 D 0.95169 0.8434 M 0.86178 2.8 0.09310 N 1 B 0.14805 0.011 B 0.12837 0.008 T 0.80167 -0.1495 10 0.56958 D 0.05 . 5.9124 0.19035 1.0E-4:0.0:0.9999:0.0 . 738 Q9UI33 SCNBA_HUMAN T 738 ENSP00000307599:P738T;ENSP00000400945:P738T;ENSP00000416757:P738T;ENSP00000408028:P738T ENSP00000307599:P738T P - 1 0 SCN11A 38913531 0.000000 0.05858 0.002000 0.10522 0.021000 0.10359 -4.182000 0.00278 0.300000 0.22699 0.305000 0.20034 CCG SCN11A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109746.4 48.057952 1 3 48 0 2.4624e-09 1 2.4624e-09 NM_014139 17 48.959080 31 0.354167 BRINP3 339479 broad.mit.edu hg19 1 190067401 190067401 + Missense_Mutation SNP A A G TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr1:190067401A>G ENST00000367462.3 - 8 2279 c.2048T>C c.(2047-2049)cTg>cCg p.L683P BRINP3_ENST00000534846.1_Missense_Mutation_p.L581P NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 683 CTGCAAAATCAGGTCCCGAAT 0.458 0 109.0 108.0 109.0 1 190067401 2203 4300 6503 SO:0001583 missense AB111893 CCDS1373.1 1q31.1 2013-09-18 2013-09-18 2013-09-18 ENSG00000162670 ENSG00000162670 22393 protein-coding gene gene with protein product """family with sequence similarity 5, member C""" FAM5C 16018821, 15193423 Standard NM_199051 Approved DBCCR1L, DBCCR1L1 uc001gse.1 Q76B58 OTTHUMG00000035533 ENST00000367462.3:c.2048T>C 1.37:g.190067401A>G ENSP00000356432:p.Leu683Pro B3KVP1|B7Z260|O95726|Q2M330 ENST00000367462.3 37 CCDS1373.1 . . . . . . . . . . A 14.39 2.521122 0.44866 . . ENSG00000162670 ENST00000367462;ENST00000534846 T;T 0.21734 2.24;1.99 5.62 4.48 0.54585 . 0.082989 0.49916 D 0.000129 T 0.29321 0.0730 M 0.70275 2.135 0.80722 D 1 P;P 0.41848 0.763;0.651 P;B 0.44359 0.447;0.174 T 0.02721 -1.1119 10 0.49607 T 0.09 . 10.9682 0.47424 0.8428:0.1572:0.0:0.0 . 581;683 B7Z260;Q76B58 .;FAM5C_HUMAN P 683;581 ENSP00000356432:L683P;ENSP00000438022:L581P ENSP00000356432:L683P L - 2 0 FAM5C 188334024 1.000000 0.71417 0.996000 0.52242 0.998000 0.95712 9.237000 0.95368 0.932000 0.37266 0.528000 0.53228 CTG BRINP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086278.1 -8.765922 0 -5 93 0 0 1 0 NM_199051 4 7.044462 71 0.053333 TRPM7 54822 broad.mit.edu hg19 15 50866914 50866914 + Missense_Mutation SNP T T A TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr15:50866914T>A ENST00000313478.7 - 35 5303 c.5022A>T c.(5020-5022)gaA>gaT p.E1674D TRPM7_ENST00000560955.1_Missense_Mutation_p.E1673D|TRPM7_ENST00000561443.1_5'UTR NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1674 Alpha-type protein kinase. cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GTTGTTGAATTTCCTATAAAA 0.303 0 126.0 120.0 122.0 15 50866914 1810 4071 5881 SO:0001583 missense AF346629 CCDS42035.1, CCDS73725.1 15q21 2011-12-14 ENSG00000092439 """Voltage-gated ion channels / Transient receptor potential cation channels""" 17994 protein-coding gene gene with protein product 605692 11161216, 11385574, 16382100 Standard XM_005254486 Approved CHAK1, LTRPC7, TRP-PLIK uc001zyt.4 Q96QT4 ENST00000313478.7:c.5022A>T 15.37:g.50866914T>A ENSP00000320239:p.Glu1674Asp Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2 ENST00000313478.7 37 CCDS42035.1 . . . . . . . . . . T 23.9 4.472146 0.84533 . . ENSG00000092439 ENST00000313478 T 0.06371 3.31 5.25 5.25 0.73442 MHCK/EF2 kinase (3);Protein kinase-like domain (1); 0.000000 0.85682 D 0.000000 T 0.17408 0.0418 L 0.36672 1.1 0.58432 D 0.999995 D 0.89917 1.0 D 0.87578 0.998 T 0.00657 -1.1623 10 0.87932 D 0 -26.0928 15.3214 0.74124 0.0:0.0:0.0:1.0 . 1674 Q96QT4 TRPM7_HUMAN D 1674 ENSP00000320239:E1674D ENSP00000320239:E1674D E - 3 2 TRPM7 48654206 1.000000 0.71417 1.000000 0.80357 0.955000 0.61496 3.362000 0.52314 2.191000 0.70037 0.528000 0.53228 GAA TRPM7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000418604.1 64.602695 0 1 90 0 0 1 0 NM_017672 23 66.299791 46 0.333333 GNA11 2767 broad.mit.edu hg19 19 3118942 3118942 + Missense_Mutation SNP A A T TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr19:3118942A>T ENST00000078429.4 + 5 868 c.626A>T c.(625-627)cAg>cTg p.Q209L GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 209 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GTGGGGGGCCAGCGGTCGGAG 0.612 82 104.0 89.0 94.0 19 3118942 2203 4300 6503 SO:0001583 missense AF493900 CCDS12103.1 19p13.3 2014-02-04 ENSG00000088256 ENSG00000088256 4379 protein-coding gene gene with protein product 139313 """hypocalciuric hypercalcemia 2""" HHC2 1302014, 23802516 Standard NM_002067 Approved FBH, FBH2, FHH2 uc002lxd.3 P29992 OTTHUMG00000180631 ENST00000078429.4:c.626A>T 19.37:g.3118942A>T ENSP00000078429:p.Gln209Leu O15109|Q14350|Q6IB00 ENST00000078429.4 37 CCDS12103.1 . . . . . . . . . . . 15.05 2.718086 0.48622 . . ENSG00000088256 ENST00000078429 D 0.91237 -2.81 3.26 3.26 0.37387 . 0.000000 0.64402 U 0.000006 D 0.96950 0.9004 H 0.99357 4.53 0.80722 D 1 D 0.59767 0.986 D 0.68483 0.958 D 0.96823 0.9605 10 0.87932 D 0 . 10.7338 0.46113 1.0:0.0:0.0:0.0 . 209 P29992 GNA11_HUMAN L 209 ENSP00000078429:Q209L ENSP00000078429:Q209L Q + 2 0 GNA11 3069942 1.000000 0.71417 0.438000 0.26821 0.027000 0.11550 9.104000 0.94239 1.256000 0.44068 0.379000 0.24179 CAG GNA11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452261.2 71.362376 0 -3 78 0 0 1 0 NM_002067 25 71.948661 38 0.396825 MAGED1 9500 broad.mit.edu hg19 X 51640905 51640905 + Silent SNP A A G TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chrX:51640905A>G ENST00000375695.2 + 8 1902 c.1749A>G c.(1747-1749)caA>caG p.Q583Q MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Silent_p.Q527Q|MAGED1_ENST00000375772.3_Silent_p.Q527Q|MAGED1_ENST00000326587.7_Silent_p.Q527Q NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 527 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) TTGGGATTCAACTGAAAGAAA 0.443 0 52.0 46.0 48.0 X 51640905 2203 4299 6502 SO:0001819 synonymous_variant AF124440 CCDS14337.1, CCDS35279.1 Xp11.23 2008-08-01 ENSG00000179222 ENSG00000179222 6813 protein-coding gene gene with protein product 300224 10409427 Standard NM_006986 Approved NRAGE, DLXIN-1 uc004dpn.3 Q9Y5V3 OTTHUMG00000021540 ENST00000375722.1:c.1581A>G X.37:g.51640905A>G Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36 ENST00000375722.1 37 CCDS14337.1 MAGED1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056593.1 29.371404 0 -8 23 0 0 1 0 NM_001005332 9 29.530145 13 0.409091 ITGA8 8516 broad.mit.edu hg19 10 15701035 15701035 + Missense_Mutation SNP G G A rs148965352 byFrequency TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr10:15701035G>A ENST00000378076.3 - 10 1264 c.911C>T c.(910-912)aCg>aTg p.T304M NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 304 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CGTCATATCCGTAGAGTTAAT 0.318 0 52.0 54.0 53.0 10 15701035 2203 4298 6501 SO:0001583 missense L36531 CCDS31155.1 10p13 2010-03-23 ENSG00000077943 ENSG00000077943 """Integrins""" 6144 protein-coding gene gene with protein product 604063 7768999 Standard XM_005252633 Approved uc001ioc.1 P53708 OTTHUMG00000017733 ENST00000378076.3:c.911C>T 10.37:g.15701035G>A ENSP00000367316:p.Thr304Met B0YJ31|Q5VX94 ENST00000378076.3 37 CCDS31155.1 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 19.50 3.839816 0.71488 4.54E-4 0.001396 ENSG00000077943 ENST00000378076;ENST00000538044 T 0.24350 1.86 5.59 5.59 0.84812 . 0.139474 0.64402 D 0.000005 T 0.45756 0.1358 L 0.55834 1.745 0.53688 D 0.999976 D;D 0.89917 1.0;1.0 D;P 0.67103 0.949;0.891 T 0.22626 -1.0211 10 0.49607 T 0.09 . 16.2993 0.82801 0.0:0.0:1.0:0.0 . 289;304 F5H818;P53708 .;ITA8_HUMAN M 304;289 ENSP00000367316:T304M ENSP00000367316:T304M T - 2 0 ITGA8 15741041 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 6.825000 0.75293 2.634000 0.89283 0.563000 0.77884 ACG ITGA8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000046987.1 -2.210950 0 10 89 0 0 1 0 NM_003638 3 6.547389 42 0.066667 NBEAL2 23218 broad.mit.edu hg19 3 47033435 47033435 + Splice_Site SNP A A T TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr3:47033435A>T ENST00000450053.3 + 9 1210 c.1031A>T c.(1030-1032)aAg>aTg p.K344M NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K344M NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 344 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CAGAACAGCAAGGTGGGTAGG 0.592 0 42.0 40.0 40.0 3 47033435 2052 4202 6254 SO:0001630 splice_region_variant AB011112 CCDS46817.1 3p21.31 2014-09-17 ENSG00000160796 ENSG00000160796 """WD repeat domain containing""" 31928 protein-coding gene gene with protein product 614169 Standard NM_015175 Approved KIAA0540 uc003cqp.3 Q6ZNJ1 OTTHUMG00000156497 ENST00000450053.3:c.1032+1A>T 3.37:g.47033435A>T O60288|Q6P994|Q6UX91|Q8NAC9 ENST00000450053.3 37 CCDS46817.1 . . . . . . . . . . A 24.2 4.506466 0.85282 . . ENSG00000160796 ENST00000292309;ENST00000450053;ENST00000296147 T;T 0.61980 0.06;0.06 4.13 4.13 0.48395 Armadillo-type fold (1); . . . . T 0.74816 0.3766 M 0.66939 2.045 0.80722 D 1 D;D 0.89917 1.0;0.994 D;P 0.69479 0.964;0.733 T 0.78135 -0.2322 9 0.87932 D 0 . 12.4731 0.55797 1.0:0.0:0.0:0.0 . 337;344 Q6ZNJ1-4;Q6ZNJ1 .;NBEL2_HUMAN M 344;344;337 ENSP00000292309:K344M;ENSP00000415034:K344M ENSP00000292309:K344M K + 2 0 NBEAL2 47008439 1.000000 0.71417 1.000000 0.80357 0.943000 0.58893 6.894000 0.75655 1.723000 0.51488 0.379000 0.24179 AAG NBEAL2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344363.3 12.499512 0 -7 13 0 0 1 0 XM_291064 4 12.499512 4 0.500000 PCGF2 7703 broad.mit.edu hg19 17 36891521 36891521 + Frame_Shift_Del DEL C C - TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr17:36891521delC ENST00000580830.1 - 12 1691 c.990delG c.(988-990)gggfs p.G330fs PCGF2_ENST00000581345.1_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000585100.1_3'UTR|PCGF2_ENST00000360797.2_Frame_Shift_Del_p.G330fs|PCGF2_ENST00000579882.1_3'UTR|PCGF2_ENST00000578109.1_3'UTR P35227 PCGF2_HUMAN polycomb group ring finger 2 330 Pro/Ser-rich. negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TCATCTTGCGCCCCCTGCTGG 0.627 0 17.0 10.0 13.0 17 36891521 2167 4257 6424 SO:0001589 frameshift_variant D13969 CCDS32638.1 17q12 2013-01-09 2005-01-17 2005-01-19 ENSG00000277258 """RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers""" 12929 protein-coding gene gene with protein product 600346 """ring finger protein 110""" ZNF144, RNF110 8325509 Standard NM_007144 Approved MEL-18 uc002hqp.1 P35227 ENST00000580830.1:c.990delG 17.37:g.36891521delC ENSP00000461961:p.Gly330fs A6NGD8 ENST00000580830.1 37 CCDS32638.1 PCGF2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442246.2 . . 4 6 NM_007144 2 4 0.33 PPP1R15A 23645 broad.mit.edu hg19 19 49377681 49377682 + Frame_Shift_Ins INS - - G TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr19:49377681_49377682insG ENST00000200453.5 + 2 1460_1461 c.1191_1192insG c.(1192-1194)gagfs p.E398fs NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 398 4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GAGAGGACACAGAGGAGGAGGA 0.530 0 SO:0001589 frameshift_variant U83981 CCDS12738.1 19q13.2 2012-04-17 2011-10-04 ENSG00000087074 ENSG00000087074 """Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits""" 14375 protein-coding gene gene with protein product """growth arrest and DNA-damage-inducible 34""" 611048 """protein phosphatase 1, regulatory (inhibitor) subunit 15A""" 9153226, 9413226 Standard NM_014330 Approved GADD34 uc002pky.4 O75807 ENST00000200453.5:c.1192dupG 19.37:g.49377682_49377682dupG ENSP00000200453:p.Glu398fs B4DKQ3|Q6IA96|Q9NVU6 ENST00000200453.5 37 CCDS12738.1 PPP1R15A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000466226.1 . . 6 130 NM_014330 38 54 0.41 PTPRG 5793 broad.mit.edu hg19 3 61548042 61548054 + Splice_Site DEL CCCCGGTGAGTGC CCCCGGTGAGTGC - rs2365955 TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr3:61548042_61548054delCCCCGGTGAGTGC ENST00000474889.1 + 1 458_462 c.81_85delCCCCGGTGAGTGC c.(79-87)ttccccggt>ttgt p.FPG27fs PTPRG_ENST00000295874.10_Splice_Site_p.FPG27fs|PTPRG_ENST00000495879.1_3'UTR NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 27 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TCGTGTGCTTCCCCGGTGAGTGCCGGCCGCCGA 0.648 1 SO:0001630 splice_region_variant L09247 CCDS2895.1 3p21-p14 2013-02-11 ENSG00000144724 ENSG00000144724 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing""" 9671 protein-coding gene gene with protein product 176886 PTPG 1711217 Standard NM_002841 Approved RPTPG uc003dlb.3 P23470 OTTHUMG00000158660 ENST00000474889.1:c.85+1CCCCGGTGAGTGC>- 3.37:g.61548042_61548054delCCCCGGTGAGTGC B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5 ENST00000474889.1 37 CCDS2895.1 PTPRG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000351674.1 . . -14 179 NM_002841 11 144 0.07 LZTS3 0 broad.mit.edu hg19 20 3145615 3145615 + Frame_Shift_Del DEL C C - TCGA-WC-A87W-01A-11D-A39W-08 TCGA-WC-A87W-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5b97d5cc-c7d2-4d27-87cb-4c5090079458 addacac8-7364-409d-adce-53703cafaea2 g.chr20:3145615delC ENST00000329152.3 - 3 2904 c.1507delG c.(1507-1509)gccfs p.A503fs LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A457fs|LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A457fs TCCAGGCTGGCCTGCTTGCTG 0.716 0 6.0 6.0 6.0 20 3145615 2119 4145 6264 SO:0001589 frameshift_variant ENST00000329152.3:c.1507delG 20.37:g.3145615delC ENSP00000332123:p.Ala503fs A2A2Q7|D3DVX6|Q8IXX8 ENST00000329152.3 37 CCDS13049.1 LZTS3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000077715.2 . . -2 6 2 4 0.33