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 COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_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 ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad 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 entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high UBA2 10054 broad.mit.edu 37 19 34921468 34921485 + Splice_Site DEL TATGCATTTGTAGATTGA TATGCATTTGTAGATTGA - rs146650320 byFrequency TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr19:34921468_34921485delTATGCATTTGTAGATTGA ENST00000246548.4 + 2 208_213 c.138_143delTATGCATTTGTAGATTGA c.(136-144)cttatgcat>ctt p.MH47del CTD-2588C8.8_ENST00000592220.1_RNA|UBA2_ENST00000439527.2_5'UTR NM_005499.2 NP_005490.1 Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATCTGGGGTTTATGCATTTGTAGATTGATCTGGATACT 0.362000 0 SO:0001630 splice_region_variant ENST00000246548.4 1 1 hg19 CCDS12439.1 TCGA-3A-A9I7-01A-21D-A38G-08 UBA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459257.3 0 0 0 9 416 0 138 0 4.468751e-01 0 66 0 138 2 0 0 0 0 0 0 0 0.101270 11 406 2 140 16 0 0 0 0 0 0 -8.537428 1 1 0 0 1 0 0 0 1.997096 0 0.190000 1.940000 0.182231 0.220000 0.110000 0.400000 0.210000 0.241604 0.220000 0 0.160000 0.310000 SLC18A3 6572 broad.mit.edu 37 10 50819671 50819671 + Silent SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr10:50819671C>T ENST00000374115.3 + 1 1325 c.885C>T c.(883-885)gcC>gcT p.A295A CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 p.A295A(1) 43 CCGTGGTGGCCGGCGCGCTCA 0.642000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000374115.3 0 1 hg19 CCDS7231.1 TCGA-3A-A9I7-01A-21D-A38G-08 SLC18A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047995.1 0 0 0 6 317 0 128 0 3.037911e-03 0 4 0 128 2 0 0 0 0 0 2 1 0.962192 6 308 0 124 2 0 0 0 0 128 2 -3.386138 1 1 0 0 1 0 0 0 1.997220 0 0.190000 1.940000 0.182231 0.200000 0.080000 0.390000 0.190000 0.221455 0.200000 0 0.130000 0.300000 OVOL1 5017 broad.mit.edu 37 11 65554913 65554913 + Silent SNP C C G TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr11:65554913C>G ENST00000335987.3 + 1 421 c.69C>G c.(67-69)ccC>ccG p.P23P RP11-770G2.4_ENST00000532454.1_RNA|RP11-770G2.4_ENST00000534178.1_RNA|RP11-770G2.4_ENST00000527453.1_RNA NM_004561.3 NP_004552.2 O14753 OVOL1_HUMAN ovo-like zinc finger 1 6 GCGAGCTCCCCGACGAGGAGC 0.721000 0 SO:0001819 synonymous_variant ENST00000335987.3 0 1 hg19 CCDS8112.1 TCGA-3A-A9I7-01A-21D-A38G-08 OVOL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390690.1 0 0 0 5 39 0 13 0 8.959754e-01 0 35 0 13 2 0 0 0 0 0 2 1 0.941401 5 39 0 13 2 0 0 0 0 13 2 -10.609310 1 1 0 0 1 1 2 3 2.017652 0 0.190000 1.940000 0.193829 0.990000 0.480000 1.000000 1.000000 0.924650 0.990000 1 0.780000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-3A-A9I7-01A-21D-A38G-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 23 295 0 111 1 5.773374e-01 4 22 0 111 2 1 9.999999e-01 21 347 0 199 2 1 0.999999 22 285 0 111 2 1 1 643 7367 0 111 2 -7.665470 1 1 121404 2 44 1 0 1 1 2.010853 0 0.190000 1.940000 0.186910 0.750000 0.490000 1.000000 1.000000 0.769312 0.750000 0 0.610000 0.920000 CACNA1C 775 broad.mit.edu 37 12 2797804 2797804 + Silent SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr12:2797804C>T ENST00000347598.4 + 48 6120 c.6120C>T c.(6118-6120)tgC>tgT p.C2040C CACNA1C_ENST00000399637.1_Silent_p.C2011C|CACNA1C_ENST00000399644.1_Silent_p.C1992C|CACNA1C_ENST00000399603.1_Silent_p.C1992C|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000327702.7_Silent_p.C2027C|CACNA1C_ENST00000399641.1_Silent_p.C1992C|CACNA1C_ENST00000399655.1_Silent_p.C1992C|CACNA1C_ENST00000399597.1_Silent_p.C1992C|CACNA1C_ENST00000399617.1_Silent_p.C2027C|CACNA1C_ENST00000402845.3_Silent_p.C2011C|CACNA1C_ENST00000399638.1_Silent_p.C2020C|CACNA1C_ENST00000399591.1_Silent_p.C2000C|CACNA1C_ENST00000399634.1_Silent_p.C2063C|CACNA1C_ENST00000399629.1_Silent_p.C2009C|CACNA1C_ENST00000399606.1_Silent_p.C2012C|CACNA1C_ENST00000399621.1_Silent_p.C2011C|CACNA1C_ENST00000335762.5_Silent_p.C2017C|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Silent_p.C1998C|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000344100.3_Silent_p.C2033C|CACNA1C_ENST00000399601.1_Silent_p.C1992C|CACNA1C_ENST00000399595.1_Silent_p.C2000C|CACNA1C_ENST00000406454.3_Silent_p.C2063C NM_001129827.1|NM_199460.2 NP_001123299.1|NP_955630.2 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) CCATCCACTGCGGCTCCTGGG 0.721000 0 SO:0001819 synonymous_variant ENST00000347598.4 0 1 hg19 CCDS44788.1 TCGA-3A-A9I7-01A-21D-A38G-08 CACNA1C-017 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000317035.1 0 0 0 6 456 1 174 0 3.943564e-02 0 46 1 174 3 0 0 0 0 0 2 0 0.148409 6 443 1 173 11 0 0 0 1 174 2 -3.213351 1 1 120860 4 37 1 0 1 1 2.010853 0 0.190000 1.940000 0.186910 0.140000 0.050000 0.280000 0.140000 0.156714 0.140000 0 0.090000 0.210000 PTHLH 5744 broad.mit.edu 37 12 28116383 28116383 + Missense_Mutation SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr12:28116383C>T ENST00000545234.1 - 5 962 c.422G>A c.(421-423)cGg>cAg p.R141Q PTHLH_ENST00000395868.3_Missense_Mutation_p.R141Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000201015.4_Missense_Mutation_p.R141Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R141Q|PTHLH_ENST00000535992.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R141Q|PTHLH_ENST00000538310.1_Missense_Mutation_p.R141Q P12272 PTHR_HUMAN parathyroid hormone-like hormone 10 Lung SC(9;0.184) GCGAGTTCGCCGTTTTTTCTT 0.542000 0 SO:0001583 missense ENST00000545234.1 1 1 hg19 CCDS44853.1 . . . . . . . . . . C 31 5.072552 0.93950 . . ENSG00000087494 ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963 D;D;D;D;D;D;D;D;D 0.92199 -2.88;-2.88;-2.88;-2.99;-2.99;-2.87;-2.87;-2.87;-2.85 5.63 5.63 0.86233 . 0.053580 0.64402 D 0.000001 D 0.95589 0.8566 M 0.66939 2.045 0.42178 D 0.991676 D 0.76494 0.999 D 0.72625 0.978 D 0.95866 0.8887 10 0.87932 D 0 -14.8282 18.6479 0.91418 0.0:1.0:0.0:0.0 . 141 P12272 PTHR_HUMAN Q 141 ENSP00000379213:R141Q;ENSP00000441571:R141Q;ENSP00000441765:R141Q;ENSP00000441890:R141Q;ENSP00000346398:R141Q;ENSP00000201015:R141Q;ENSP00000440613:R141Q;ENSP00000379209:R141Q;ENSP00000444519:R141Q ENSP00000201015:R141Q R - 2 0 PTHLH 28007650 1.000000 0.71417 0.887000 0.34795 0.994000 0.84299 4.979000 0.63806 2.657000 0.90304 0.591000 0.81541 CGG TCGA-3A-A9I7-01A-21D-A38G-08 PTHLH-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000402913.1 1 0 0 27 414 0 146 1 9.156306e-01 4 63 0 146 2 0 0 0 0 0 2 1 1.000000 25 400 0 146 2 0 0 0 0 146 2 -2.774692 1 1 0 0 1 0 1 1 2.010853 0 0.190000 1.940000 0.186910 0.640000 0.430000 0.890000 0.630000 0.656007 0.640000 0 0.530000 0.770000 PDZRN4 29951 broad.mit.edu 37 12 41966629 41966629 + Missense_Mutation SNP T T A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr12:41966629T>A ENST00000402685.2 + 10 2056 c.2048T>A c.(2047-2049)aTc>aAc p.I683N PDZRN4_ENST00000539469.2_Missense_Mutation_p.I425N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.I423N NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGTCAGAATATCATGCAGGCT 0.448000 0 SO:0001583 missense ENST00000402685.2 0 1 hg19 CCDS53777.1 . . . . . . . . . . T 18.67 3.672946 0.67928 . . ENSG00000165966 ENST00000402685;ENST00000539469;ENST00000298919 D;T;T 0.81499 -1.5;3.01;3.0 4.64 4.64 0.57946 . 0.151474 0.45126 D 0.000400 D 0.88880 0.6557 M 0.76170 2.325 0.80722 D 1 D;D;D 0.89917 0.999;1.0;1.0 D;D;D 0.87578 0.998;0.997;0.996 D 0.90408 0.4407 10 0.87932 D 0 -34.5847 14.7814 0.69769 0.0:0.0:0.0:1.0 . 683;423;425 Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2 PZRN4_HUMAN;.;. N 683;425;423 ENSP00000384197:I683N;ENSP00000439990:I425N;ENSP00000298919:I423N ENSP00000298919:I423N I + 2 0 PDZRN4 40252896 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.997000 0.88414 2.049000 0.60858 0.528000 0.53228 ATC TCGA-3A-A9I7-01A-21D-A38G-08 PDZRN4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403701.1 1 0 0 8 245 0 103 0 7.808217e-03 0 4 0 103 2 0 0 0 0 0 2 1 0.989521 8 244 0 100 2 0 0 0 0 103 2 -9.891595 1 1 0 0 1 0 1 1 2.010853 0 0.190000 1.940000 0.186910 0.340000 0.160000 0.610000 0.330000 0.363764 0.340000 0 0.240000 0.480000 RAD51AP1 10635 broad.mit.edu 37 12 4653066 4653066 + Missense_Mutation SNP A A G TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr12:4653066A>G ENST00000544927.1 + 3 215 c.205A>G c.(205-207)Aaa>Gaa p.K69E RAD51AP1_ENST00000543041.1_5'UTR|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K69E|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.K69E|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K69E RAD51 associated protein 1 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) AACCCCTAAAAAAAGGTGAGA 0.353000 0 SO:0001583 missense ENST00000544927.1 0 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 15.02|15.02 2.708549|2.708549 0.48517|0.48517 .|. .|. ENSG00000111247|ENSG00000111247 ENST00000321524;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117 T;T;T;T|T 0.32988|0.34072 1.43;1.43;1.43;1.43|1.38 5.06|5.06 5.06|5.06 0.68205|0.68205 .|. 0.120167|0.120167 0.51477|0.51477 D|N 0.000083|0.000083 T|T 0.45054|0.45054 0.1323|0.1323 M|M 0.75264|0.75264 2.295|2.295 0.80722|0.80722 D|D 1|1 D;D|. 0.89917|. 1.0;1.0|. D;D|. 0.85130|. 0.994;0.997|. T|T 0.37979|0.37979 -0.9682|-0.9682 10|8 0.52906|0.20046 T|T 0.07|0.44 -19.6144|-19.6144 7.6299|7.6299 0.28232|0.28232 0.9038:0.0:0.0962:0.0|0.9038:0.0:0.0962:0.0 .|. 69;69|. Q96B01;Q96B01-2|. R51A1_HUMAN;.|. E|R 69|63 ENSP00000323750:K69E;ENSP00000228843:K69E;ENSP00000309479:K69E;ENSP00000446296:K69E|ENSP00000444769:K63R ENSP00000228843:K69E|ENSP00000444769:K63R K|K +|+ 1|2 0|0 RAD51AP1|RAD51AP1 4523327|4523327 1.000000|1.000000 0.71417|0.71417 0.999000|0.999000 0.59377|0.59377 0.964000|0.964000 0.63967|0.63967 3.552000|3.552000 0.53705|0.53705 1.884000|1.884000 0.54569|0.54569 0.477000|0.477000 0.44152|0.44152 AAA|AAA TCGA-3A-A9I7-01A-21D-A38G-08 RAD51AP1-012 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000399208.1 0 0 0 5 250 0 78 0 8.748650e-03 0 6 0 78 2 0 0 0 0 0 2 1 0.932782 5 242 0 75 2 0 0 0 0 78 2 -7.157501 1 1 0 0 1 0 1 1 2.010853 0 0.190000 1.940000 0.186910 0.220000 0.080000 0.440000 0.200000 0.240657 0.220000 0 0.140000 0.330000 RPTOR 57521 broad.mit.edu 37 17 78923328 78923328 + Missense_Mutation SNP C C G TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr17:78923328C>G ENST00000306801.3 + 28 3713 c.3351C>G c.(3349-3351)gaC>gaG p.D1117E RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.D959E NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 44 GGCTCTCGGACATGCTGCCAA 0.617000 0 SO:0001583 missense ENST00000306801.3 1 1 hg19 CCDS11773.1 . . . . . . . . . . C 12.19 1.862663 0.32884 . . ENSG00000141564 ENST00000306801;ENST00000544334 T;T 0.48836 0.82;0.8 4.73 4.73 0.59995 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.000000 0.85682 D 0.000000 T 0.56062 0.1960 L 0.39566 1.225 0.80722 D 1 D;B 0.61697 0.99;0.031 D;B 0.73380 0.98;0.01 T 0.52079 -0.8623 10 0.33940 T 0.23 . 11.2536 0.49041 0.0:0.9153:0.0:0.0847 . 959;1117 F5H7J5;Q8N122 .;RPTOR_HUMAN E 1117;959 ENSP00000307272:D1117E;ENSP00000442479:D959E ENSP00000307272:D1117E D + 3 2 RPTOR 76537923 1.000000 0.71417 1.000000 0.80357 0.831000 0.47069 4.572000 0.60886 2.182000 0.69389 0.462000 0.41574 GAC TCGA-3A-A9I7-01A-21D-A38G-08 RPTOR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000438125.1 1 0 0 34 637 0 264 1 5.716883e-01 2 35 0 264 2 0 0 0 0 0 2 1 1.000000 34 624 0 260 2 0 0 0 0 264 2 -5.988357 1 1 121412 1 34 1 1 2 3 2.028173 0 0.190000 1.940000 0.196110 0.540000 0.380000 1.000000 0.540000 0.577291 0.540000 0 0.450000 0.670000 APCDD1 147495 broad.mit.edu 37 18 10485496 10485496 + Missense_Mutation SNP A A G TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr18:10485496A>G ENST00000355285.5 + 4 1166 c.812A>G c.(811-813)tAt>tGt p.Y271C APCDD1_ENST00000578882.1_Intron NM_153000.4 NP_694545.1 adenomatosis polyposis coli down-regulated 1 22 CGGATCATCTATCGGTCAGAC 0.602000 0 SO:0001583 missense ENST00000355285.5 1 1 hg19 CCDS11849.1 . . . . . . . . . . A 12.44 1.937161 0.34189 . . ENSG00000154856 ENST00000355285;ENST00000423585 T 0.18016 2.24 4.9 2.39 0.29439 . 0.373449 0.31872 N 0.006924 T 0.25865 0.0630 L 0.54323 1.7 0.80722 D 1 P 0.49307 0.922 P 0.54346 0.749 T 0.00719 -1.1595 10 0.48119 T 0.1 -27.5474 9.1807 0.37141 0.5802:0.0:0.0:0.4198 . 271 Q8J025 APCD1_HUMAN C 271;322 ENSP00000347433:Y271C ENSP00000347433:Y271C Y + 2 0 APCDD1 10475496 1.000000 0.71417 0.991000 0.47740 0.873000 0.50193 2.380000 0.44327 0.314000 0.23086 0.454000 0.30748 TAT TCGA-3A-A9I7-01A-21D-A38G-08 APCDD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254529.2 1 0 0 26 493 0 172 0 9.810225e-01 0 122 0 172 2 0 0 0 0 0 2 1 1.000000 26 479 0 171 2 0 0 0 0 172 2 -20.000000 1 1 121412 8 44 1 0 0 0 1.930840 0 0.190000 1.940000 0.152985 0.500000 0.330000 0.700000 0.500000 0.516116 0.500000 0 0.410000 0.610000 C18orf8 29919 broad.mit.edu 37 18 21110072 21110072 + Silent SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr18:21110072C>T ENST00000269221.3 + 17 1685 c.1575C>T c.(1573-1575)caC>caT p.H525H C18orf8_ENST00000590868.1_Silent_p.H477H|C18orf8_ENST00000591367.1_3'UTR NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) TGCAGTACCACGTCCTCAGCG 0.393000 0 SO:0001819 synonymous_variant ENST00000269221.3 1 1 hg19 CCDS32803.1 TCGA-3A-A9I7-01A-21D-A38G-08 C18orf8-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000445386.1 0 0 0 38 1561 0 539 1 7.483041e-01 7 105 0 539 2 0 0 0 0 0 2 1 1.000000 38 1535 0 531 2 0 0 0 0 539 2 -2.914844 1 1 121412 2 36 1 0 0 0 1.930840 0 0.190000 1.940000 0.152985 0.230000 0.160000 0.320000 0.240000 0.244364 0.230000 0 0.200000 0.280000 ZNF521 25925 broad.mit.edu 37 18 22806967 22806967 + Silent SNP G G A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr18:22806967G>A ENST00000361524.3 - 4 1063 c.915C>T c.(913-915)agC>agT p.S305S ZNF521_ENST00000538137.2_Silent_p.S305S|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.S85S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCTTCTCCCCGCTATGCACCT 0.547000 T PAX5 ALL Dom yes 18 18q11.2 25925 zinc finger protein 521 L 0 SO:0001819 synonymous_variant ENST00000361524.3 1 1 hg19 CCDS32806.1 TCGA-3A-A9I7-01A-21D-A38G-08 ZNF521-001 KNOWN overlapping_uORF|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000446781.2 0 0 0 8 242 0 95 0 1.254137e-01 0 17 0 95 2 0 0 0 0 0 2 1 0.989172 8 240 0 94 2 0 0 0 0 95 2 -3.433661 1 1 121412 3 33 1 0 0 0 1.930840 0 0.190000 1.940000 0.152985 0.330000 0.150000 0.590000 0.320000 0.351580 0.330000 0 0.230000 0.460000 ZNF763 284390 broad.mit.edu 37 19 12088187 12088187 + Splice_Site SNP G G A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr19:12088187G>A ENST00000358987.3 + 3 259 c.132G>A c.(130-132)ggG>ggA p.G44G ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000343949.5_Splice_Site_p.G47G|ZNF763_ENST00000538752.1_Splice_Site_p.G64G|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Splice_Site_p.G64G Q0D2J5 ZN763_HUMAN zinc finger protein 763 15 GTATTTTAGGGAAAAAGTGGA 0.353000 0 SO:0001630 splice_region_variant ENST00000358987.3 0 1 hg19 TCGA-3A-A9I7-01A-21D-A38G-08 ZNF763-002 KNOWN basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000344158.1 0 0 0 6 439 0 119 1 5.492939e-03 2 5 0 119 2 0 0 0 0 0 2 1 0.962674 5 430 0 119 2 0 0 0 0 119 2 -2.522364 1 0 121396 3 38 1 0 0 0 1.997096 0 0.190000 1.940000 0.182231 0.140000 0.050000 0.290000 0.140000 0.161630 0.140000 0 0.090000 0.220000 RYR1 6261 broad.mit.edu 37 19 38958285 38958285 + Missense_Mutation SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr19:38958285C>T ENST00000359596.3 + 25 3214 c.3214C>T c.(3214-3216)Cgc>Tgc p.R1072C RYR1_ENST00000360985.3_Missense_Mutation_p.R1072C|RYR1_ENST00000355481.4_Missense_Mutation_p.R1072C P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) p.R1072C(1) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) TGACCGGGTGCGCATCTTCCG 0.572000 1 Substitution - Missense(1) SO:0001583 missense ENST00000359596.3 1 1 hg19 CCDS33011.1 . . . . . . . . . . c 11.60 1.686114 0.29962 . . ENSG00000196218 ENST00000359596;ENST00000355481;ENST00000360985 D;D;D 0.97688 -4.49;-4.49;-4.49 2.92 2.92 0.33932 B30.2/SPRY domain (1); 0.000000 0.64402 U 0.000016 D 0.98604 0.9533 M 0.85462 2.755 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.998;1.0 D 0.99053 1.0828 10 0.87932 D 0 . 14.736 0.69416 0.0:1.0:0.0:0.0 . 1072;1072 P21817-2;P21817 .;RYR1_HUMAN C 1072 ENSP00000352608:R1072C;ENSP00000347667:R1072C;ENSP00000354254:R1072C ENSP00000347667:R1072C R + 1 0 RYR1 43650125 1.000000 0.71417 1.000000 0.80357 0.604000 0.37047 5.533000 0.67160 1.966000 0.57179 0.154000 0.16183 CGC TCGA-3A-A9I7-01A-21D-A38G-08 RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000462137.1 1 0 0 21 505 0 168 0 0 0 0 168 2 0 0 0 0 0 2 1 0.999997 20 495 0 168 2 0 0 0 0 168 2 -3.565176 1 1 0 0 1 0 0 0 1.997096 0 0.190000 1.940000 0.182231 0.410000 0.260000 0.610000 0.410000 0.430731 0.410000 0 0.330000 0.520000 ANKRD24 170961 broad.mit.edu 37 19 4217177 4217177 + Missense_Mutation SNP G G A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr19:4217177G>A ENST00000600132.1 + 18 2296 c.2020G>A c.(2020-2022)Gcc>Acc p.A674T ANKRD24_ENST00000318934.4_Missense_Mutation_p.A674T|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A764T NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 21 AAACATGGAGGCCACGGGCTC 0.612000 0 SO:0001583 missense ENST00000600132.1 1 1 hg19 CCDS45925.1 . . . . . . . . . . g 13.81 2.347909 0.41599 . . ENSG00000089847 ENST00000318934;ENST00000262970 T;T 0.39229 1.12;1.09 2.05 0.887 0.19200 . . . . . T 0.24353 0.0590 N 0.19112 0.55 0.22975 N 0.998482 P;D 0.53885 0.937;0.963 B;B 0.41174 0.143;0.349 T 0.12091 -1.0561 9 0.24483 T 0.36 . 8.2537 0.31741 0.0:0.0:0.7599:0.2401 . 674;764 Q8TF21;Q8TF21-2 ANR24_HUMAN;. T 674;764 ENSP00000321731:A674T;ENSP00000262970:A764T ENSP00000262970:A764T A + 1 0 ANKRD24 4168177 0.032000 0.19561 0.033000 0.17914 0.010000 0.07245 0.256000 0.18351 0.156000 0.19299 0.407000 0.27541 GCC TCGA-3A-A9I7-01A-21D-A38G-08 ANKRD24-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000458188.1 1 0 0 6 85 0 43 0 1.800383e-02 0 3 0 43 2 0 0 0 0 0 2 1 0.965491 6 84 0 43 2 0 0 0 0 43 2 -10.653140 1 1 0 0 1 0 0 0 1.998454 0 0.190000 1.940000 0.182231 0.700000 0.300000 1.000000 1.000000 0.715797 0.700000 0 0.470000 1.000000 NAPSA 9476 broad.mit.edu 37 19 50861863 50861863 + Missense_Mutation SNP G G A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr19:50861863G>A ENST00000253719.2 - 9 1418 c.1210C>T c.(1210-1212)Cgc>Tgc p.R404C NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 12 all_neural(266;0.057) TCCGCTCCGCGAGTGCGAGCG 0.697000 0 SO:0001583 missense ENST00000253719.2 0 1 hg19 CCDS12794.1 . . . . . . . . . . G 15.62 2.887283 0.52014 . . ENSG00000131400 ENST00000253719 T 0.52983 0.64 3.38 2.31 0.28768 . 0.766391 0.11657 N 0.542216 T 0.39886 0.1095 L 0.38175 1.15 0.09310 N 1 D 0.56968 0.978 P 0.44477 0.451 T 0.20672 -1.0268 10 0.72032 D 0.01 . 9.1465 0.36937 0.0:0.2257:0.7743:0.0 . 404 O96009 NAPSA_HUMAN C 404 ENSP00000253719:R404C ENSP00000253719:R404C R - 1 0 NAPSA 55553675 0.002000 0.14202 0.002000 0.10522 0.002000 0.02628 1.090000 0.30902 0.688000 0.31529 -0.463000 0.05309 CGC TCGA-3A-A9I7-01A-21D-A38G-08 NAPSA-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464714.1 1 0 0 6 102 0 23 0 2.466787e-02 0 4 0 23 2 0 0 0 0 0 2 1 0.966380 6 102 0 23 2 0 0 0 0 23 2 -9.841152 1 1 0 0 1 0 1 1 2.007665 0 0.190000 1.940000 0.186910 0.600000 0.250000 1.000000 1.000000 0.630029 0.600000 0 0.400000 0.860000 HDLBP 3069 broad.mit.edu 37 2 242189325 242189325 + Silent SNP G G A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr2:242189325G>A ENST00000391975.1 - 12 1670 c.1443C>T c.(1441-1443)atC>atT p.I481I HDLBP_ENST00000427183.2_Silent_p.I448I|HDLBP_ENST00000310931.4_Silent_p.I481I|HDLBP_ENST00000391976.2_Silent_p.I481I|HDLBP_ENST00000476807.1_5'UTR NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) CCTCGATGCGGATCAAATTGC 0.537000 0 SO:0001819 synonymous_variant ENST00000391975.1 1 1 hg19 CCDS2547.1 . . . . . . . . . . G 11.05 1.524353 0.27299 . . ENSG00000115677 ENST00000373292 . . . 5.76 1.91 0.25777 . . . . . T 0.56992 0.2023 . . . 0.80722 D 1 . . . . . . T 0.47947 -0.9077 4 . . . -25.3058 8.197 0.31402 0.1831:0.1146:0.7023:0.0 . . . . S 290 . . P - 1 0 HDLBP 241837998 1.000000 0.71417 0.846000 0.33378 0.958000 0.62258 3.394000 0.52551 0.140000 0.18849 -0.136000 0.14681 CCG TCGA-3A-A9I7-01A-21D-A38G-08 HDLBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257245.5 1 0 0 30 503 0 171 1 1 51 462 0 171 2 0 0 0 0 0 2 1 1.000000 29 497 0 170 2 0 0 0 0 171 2 -5.951295 1 1 0 0 1 1 2 3 2.020873 0 0.190000 1.940000 0.194591 0.600000 0.410000 1.000000 0.590000 0.627012 0.600000 0 0.500000 0.740000 TMCC1 23023 broad.mit.edu 37 3 129370592 129370592 + Missense_Mutation SNP T T A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr3:129370592T>A ENST00000393238.3 - 6 2034 c.1694A>T c.(1693-1695)cAg>cTg p.Q565L TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 PLXND1/TMCC1(4) 25 CTGCTGCTGCTGCAGCTCCAT 0.572000 0 SO:0001583 missense ENST00000393238.3 0 1 hg19 CCDS33855.1 . . . . . . . . . . T 20.6 4.009576 0.75046 . . ENSG00000172765 ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333 T;T;T;T 0.50001 0.76;0.76;0.76;0.76 5.16 5.16 0.70880 . 0.000000 0.85682 D 0.000000 T 0.61261 0.2333 L 0.46614 1.455 0.80722 D 1 D;D 0.67145 0.996;0.985 D;D 0.85130 0.997;0.973 T 0.58278 -0.7664 10 0.33940 T 0.23 -18.4911 15.1509 0.72696 0.0:0.0:0.0:1.0 . 386;565 B4DE04;O94876 .;TMCC1_HUMAN L 241;565;451;386 ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L ENSP00000327349:Q386L Q - 2 0 TMCC1 130853282 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.735000 0.84939 2.172000 0.68678 0.533000 0.62120 CAG TCGA-3A-A9I7-01A-21D-A38G-08 TMCC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356418.2 0 0 0 5 364 0 103 0 1.053546e-01 0 33 0 103 2 0 0 0 0 0 2 1 0.939690 4 369 0 105 2 0 0 0 0 103 2 -2.086188 0 1 0 0 1 1 2 3 2.021783 0 0.190000 1.940000 0.194591 0.150000 0.050000 1.000000 0.140000 0.208306 0.150000 0 0.090000 0.250000 C3orf20 84077 broad.mit.edu 37 3 14813595 14813595 + Missense_Mutation SNP C C A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr3:14813595C>A ENST00000253697.3 + 16 2969 c.2517C>A c.(2515-2517)agC>agA p.S839R C3orf20_ENST00000435614.1_Missense_Mutation_p.S717R|C3orf20_ENST00000412910.1_Missense_Mutation_p.S717R NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 40 CTGTCCTGAGCCTGGAGGATT 0.572000 0 SO:0001583 missense ENST00000253697.3 0 1 hg19 CCDS33706.1 . . . . . . . . . . C 10.78 1.445678 0.25987 . . ENSG00000131379 ENST00000253697;ENST00000435614;ENST00000412910 T;T;T 0.08546 3.37;3.08;3.08 2.95 2.95 0.34219 . 0.876695 0.09658 N 0.772847 T 0.08044 0.0201 N 0.19112 0.55 0.09310 N 1 P;P 0.39157 0.662;0.662 B;B 0.42422 0.387;0.387 T 0.32613 -0.9900 10 0.51188 T 0.08 -2.1017 9.6058 0.39632 0.0:1.0:0.0:0.0 . 717;839 Q8ND61-2;Q8ND61 .;CC020_HUMAN R 839;717;717 ENSP00000253697:S839R;ENSP00000402933:S717R;ENSP00000396081:S717R ENSP00000253697:S839R S + 3 2 C3orf20 14788599 0.012000 0.17670 0.029000 0.17559 0.038000 0.13279 1.422000 0.34826 1.957000 0.56846 0.491000 0.48974 AGC TCGA-3A-A9I7-01A-21D-A38G-08 C3orf20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000340586.1 0 0 0 5 198 0 81 0 0 0 0 81 2 0 0 0 0 0 2 1 0.935855 5 195 0 81 2 0 0 0 0 81 2 -6.672548 1 1 0 0 1 0 1 1 1.915776 0 0.190000 1.940000 0.141039 0.260000 0.090000 0.520000 0.240000 0.281852 0.260000 0 0.160000 0.390000 OXSM 54995 broad.mit.edu 37 3 25832597 25832597 + Missense_Mutation SNP G G T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr3:25832597G>T ENST00000280701.3 + 2 185 c.86G>T c.(85-87)aGg>aTg p.R29M OXSM_ENST00000420173.2_Missense_Mutation_p.R29M|OXSM_ENST00000449808.1_3'UTR|NGLY1_ENST00000417874.2_5'Flank NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 25 AGAAGTAAAAGGAAGTTTTTC 0.403000 0 SO:0001583 missense ENST00000280701.3 1 1 hg19 CCDS2643.1 . . . . . . . . . . G 2.156 -0.393253 0.04899 . . ENSG00000151093 ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266 . . . 3.7 0.885 0.19188 . 1.235100 0.05357 N 0.533001 T 0.19087 0.0458 N 0.08118 0 0.09310 N 1 P;B 0.41848 0.763;0.327 B;B 0.43360 0.417;0.087 T 0.20505 -1.0273 9 0.72032 D 0.01 -0.3908 4.2462 0.10672 0.3102:0.1799:0.5099:0.0 . 29;29 Q9NWU1-2;Q9NWU1 .;OXSM_HUMAN M 29 . ENSP00000280701:R29M R + 2 0 OXSM 25807601 0.003000 0.15002 0.002000 0.10522 0.296000 0.27459 0.424000 0.21330 0.548000 0.28955 0.561000 0.74099 AGG TCGA-3A-A9I7-01A-21D-A38G-08 OXSM-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252876.2 0 0 0 19 691 0 257 1 1.764381e-01 2 25 0 257 2 0 0 0 0 0 2 1 0.999989 19 679 0 254 2 0 0 0 0 257 2 -2.472598 0 1 0 0 1 0 1 1 1.915776 0 0.190000 1.940000 0.141039 0.260000 0.160000 0.400000 0.260000 0.276440 0.260000 0 0.210000 0.330000 ANK2 287 broad.mit.edu 37 4 114280346 114280346 + Silent SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr4:114280346C>T ENST00000357077.4 + 38 10625 c.10572C>T c.(10570-10572)acC>acT p.T3524T ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) CTGTTGAGACCGAGCACTCAG 0.473000 0 SO:0001819 synonymous_variant ENST00000357077.4 0 1 hg19 CCDS3702.1 TCGA-3A-A9I7-01A-21D-A38G-08 ANK2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000256422.2 0 0 0 9 453 0 128 0 9.824809e-03 0 7 0 128 2 0 0 0 0 0 2 1 0.993840 10 444 0 127 2 0 0 0 0 128 2 -2.248747 0 1 121410 2 34 1 0 0 0 1.968363 0 0.190000 1.940000 0.169486 0.200000 0.090000 0.360000 0.200000 0.218914 0.200000 0 0.140000 0.280000 TRPC3 7222 broad.mit.edu 37 4 122835976 122835976 + Missense_Mutation SNP G G T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr4:122835976G>T ENST00000379645.3 - 4 1373 c.1300C>A c.(1300-1302)Cca>Aca p.P434T TRPC3_ENST00000264811.5_Missense_Mutation_p.P361T|TRPC3_ENST00000513531.1_Intron NM_001130698.1 NP_001124170.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 51 GCCAGGAATGGAAGGCCCAGG 0.522000 0 SO:0001583 missense ENST00000379645.3 0 1 hg19 CCDS47130.1 . . . . . . . . . . G 26.9 4.778659 0.90195 . . ENSG00000138741 ENST00000264811;ENST00000379645 T;T 0.76578 -1.03;-1.03 5.5 5.5 0.81552 . 0.000000 0.64402 D 0.000001 D 0.91432 0.7296 M 0.93638 3.44 0.80722 D 1 D;D 0.69078 0.996;0.997 D;D 0.72982 0.979;0.964 D 0.93272 0.6652 10 0.87932 D 0 -29.0106 19.3937 0.94596 0.0:0.0:1.0:0.0 . 349;434 Q13507;Q5G1L5 TRPC3_HUMAN;. T 361;434 ENSP00000264811:P361T;ENSP00000368966:P434T ENSP00000264811:P361T P - 1 0 TRPC3 123055426 1.000000 0.71417 0.939000 0.37840 0.922000 0.55478 9.753000 0.98904 2.586000 0.87340 0.655000 0.94253 CCA TCGA-3A-A9I7-01A-21D-A38G-08 TRPC3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000364252.1 0 0 0 4 193 0 71 0 0 0 1 0 71 2 0 0 0 0 0 2 1 0.890033 4 192 0 71 2 0 0 0 0 71 2 -6.000074 1 1 0 0 1 0 0 0 1.968363 0 0.190000 1.940000 0.169486 0.220000 0.070000 0.480000 0.210000 0.251563 0.220000 0 0.130000 0.350000 DDX60 55601 broad.mit.edu 37 4 169206628 169206628 + Missense_Mutation SNP G G C TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr4:169206628G>C ENST00000393743.3 - 11 1652 c.1361C>G c.(1360-1362)cCc>cGc p.P454R NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) ACCCAAATTGGGCACCATTTC 0.318000 0 SO:0001583 missense ENST00000393743.3 1 1 hg19 CCDS34097.1 . . . . . . . . . . G 10.77 1.443929 0.25987 . . ENSG00000137628 ENST00000393743 T 0.19394 2.15 4.53 3.66 0.41972 . 0.430135 0.22084 N 0.064857 T 0.41534 0.1163 M 0.77820 2.39 0.19300 N 0.999977 D 0.71674 0.998 D 0.65684 0.937 T 0.19128 -1.0315 10 0.56958 D 0.05 . 8.3075 0.32051 0.0845:0.0:0.7589:0.1567 . 454 Q8IY21 DDX60_HUMAN R 454 ENSP00000377344:P454R ENSP00000377344:P454R P - 2 0 DDX60 169443203 0.330000 0.24705 0.051000 0.19133 0.249000 0.25844 2.143000 0.42187 0.972000 0.38314 0.557000 0.71058 CCC TCGA-3A-A9I7-01A-21D-A38G-08 DDX60-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364622.1 0 0 0 13 379 0 112 1 2.239919e-01 4 21 0 112 2 0 0 0 0 0 2 1 0.999478 13 370 0 111 2 0 0 0 0 112 2 -3.227303 1 1 0 0 1 0 0 0 1.968363 0 0.190000 1.940000 0.169486 0.340000 0.190000 0.550000 0.330000 0.360245 0.340000 0 0.260000 0.450000 SLC27A6 28965 broad.mit.edu 37 5 128326140 128326140 + Missense_Mutation SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr5:128326140C>T ENST00000262462.4 + 4 1962 c.952C>T c.(952-954)Ctt>Ttt p.L318F SLC27A6_ENST00000506176.1_Missense_Mutation_p.L318F|SLC27A6_ENST00000395266.1_Missense_Mutation_p.L318F Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTGTCGCTACCTTTGCAAACA 0.318000 0 SO:0001583 missense ENST00000262462.4 0 1 hg19 CCDS4145.1 . . . . . . . . . . C 20.5 4.001462 0.74818 . . ENSG00000113396 ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176 T;T;T;T 0.56103 0.48;0.48;0.48;0.48 4.59 4.59 0.56863 AMP-dependent synthetase/ligase (1); 0.000000 0.85682 D 0.000000 T 0.81800 0.4899 H 0.98426 4.23 0.54753 D 0.999985 D 0.89917 1.0 D 0.97110 1.0 D 0.86944 0.2081 9 . . . -0.0674 12.1173 0.53872 0.0:0.9204:0.0:0.0796 . 318 Q9Y2P4 S27A6_HUMAN F 137;318;318;318 ENSP00000421759:L137F;ENSP00000262462:L318F;ENSP00000378684:L318F;ENSP00000421024:L318F . L + 1 0 SLC27A6 128354039 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.144000 0.42197 2.835000 0.97688 0.650000 0.86243 CTT TCGA-3A-A9I7-01A-21D-A38G-08 SLC27A6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250980.1 0 0 0 8 202 1 84 0 1.115611e-02 0 4 1 84 2 0 0 0 0 0 2 0 0.389000 8 199 1 82 10 0 0 0 1 84 2 -3.170455 1 1 0 0 1 0 0 0 1.968272 0 0.190000 1.940000 0.169486 0.400000 0.190000 0.710000 0.380000 0.425672 0.400000 0 0.280000 0.560000 CDHR2 54825 broad.mit.edu 37 5 176003131 176003131 + Missense_Mutation SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr5:176003131C>T ENST00000510636.1 + 12 1413 c.1139C>T c.(1138-1140)gCc>gTc p.A380V CDHR2_ENST00000506348.1_Missense_Mutation_p.A380V|CDHR2_ENST00000261944.5_Missense_Mutation_p.A380V NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 56 GACGAGCATGCCTCCCCCCGC 0.632000 0 SO:0001583 missense ENST00000510636.1 0 1 hg19 CCDS34297.1 . . . . . . . . . . C 9.075 0.997877 0.19043 . . ENSG00000074276 ENST00000510636;ENST00000261944;ENST00000506348 T;T;T 0.61392 0.11;0.11;0.11 4.54 3.68 0.42216 Cadherin (2);Cadherin-like (1); . . . . T 0.49898 0.1584 L 0.56124 1.755 0.19945 N 0.999946 B 0.10296 0.003 B 0.10450 0.005 T 0.36335 -0.9752 9 0.18276 T 0.48 -16.43 10.4136 0.44307 0.0:0.9088:0.0:0.0912 . 380 Q9BYE9 CDHR2_HUMAN V 380 ENSP00000424565:A380V;ENSP00000261944:A380V;ENSP00000421078:A380V ENSP00000261944:A380V A + 2 0 CDHR2 175935737 0.673000 0.27539 0.192000 0.23308 0.160000 0.22226 1.965000 0.40471 1.136000 0.42199 0.549000 0.68633 GCC TCGA-3A-A9I7-01A-21D-A38G-08 CDHR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000372201.1 0 0 0 5 296 0 111 0 9.891107e-01 1 527 0 111 2 0 0 0 0 0 2 1 0.935835 5 292 0 111 2 0 0 0 0 111 2 -4.018525 1 0 121412 1 26 1 0 0 0 1.958322 0 0.190000 1.940000 0.164604 0.180000 0.060000 0.370000 0.170000 0.198709 0.180000 0 0.110000 0.270000 CDH18 1016 broad.mit.edu 37 5 19612555 19612555 + Missense_Mutation SNP G G A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr5:19612555G>A ENST00000507958.1 - 8 1789 c.799C>T c.(799-801)Cgc>Tgc p.R267C CDH18_ENST00000506372.1_Missense_Mutation_p.R267C|CDH18_ENST00000274170.4_Missense_Mutation_p.R267C|CDH18_ENST00000382275.1_Missense_Mutation_p.R267C|CDH18_ENST00000511273.1_Missense_Mutation_p.R267C|CDH18_ENST00000502796.1_Missense_Mutation_p.R267C Q13634 CAD18_HUMAN cadherin 18, type 2 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGAGGAAAGCGTGGTGGGTTG 0.378000 0 SO:0001583 missense ENST00000507958.1 1 1 hg19 CCDS3889.1 . . . . . . . . . . G 13.49 2.252883 0.39797 . . ENSG00000145526 ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273 T;T;T;T;T;T;T 0.39229 1.09;1.09;1.09;1.09;1.09;1.09;1.09 5.95 0.216 0.15258 Cadherin (3);Cadherin-like (1); 0.101818 0.64402 D 0.000006 T 0.52597 0.1744 L 0.52573 1.65 0.22017 N 0.99941 D;P 0.76494 0.999;0.591 P;B 0.61275 0.886;0.109 T 0.55477 -0.8135 9 . . . . 16.4031 0.83649 0.0:0.0:0.3577:0.6423 . 267;267 B4DHG6;Q13634 .;CAD18_HUMAN C 267;267;267;267;267;267;213;267 ENSP00000371710:R267C;ENSP00000425093:R267C;ENSP00000274170:R267C;ENSP00000424931:R267C;ENSP00000422138:R267C;ENSP00000427383:R213C;ENSP00000425854:R267C . R - 1 0 CDH18 19648312 0.325000 0.24660 0.889000 0.34880 0.102000 0.19082 1.230000 0.32612 0.088000 0.17205 0.563000 0.77884 CGC TCGA-3A-A9I7-01A-21D-A38G-08 CDH18-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366747.1 0 0 0 10 331 0 156 0 0 0 0 156 2 0 0 0 0 0 2 1 0.996552 10 322 0 153 2 0 0 0 0 156 2 -3.665638 1 1 0 0 1 0 0 0 1.963604 0 0.190000 1.940000 0.167865 0.300000 0.150000 0.520000 0.300000 0.323836 0.300000 0 0.220000 0.410000 HLA-DMB 3109 broad.mit.edu 37 6 32906460 32906460 + Splice_Site SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr6:32906460C>T ENST00000418107.2 - 2 600 c.e2+1 AL645941.1_ENST00000390777.1_RNA|XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|HLA-DMB_ENST00000416244.2_Splice_Site NM_002118.4 NP_002109.2 P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta 13 TCTCTCCTCACGTGTCCTGTT 0.582000 0 SO:0001630 splice_region_variant ENST00000418107.2 0 1 hg19 CCDS4760.1 . . . . . . . . . . C 16.60 3.169133 0.57584 . . ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993 ENST00000414017;ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234 . . . 5.07 5.07 0.68467 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 13.823 0.63333 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . XXbac-BPG181M17.5;HLA-DMB 33014438 1.000000 0.71417 0.998000 0.56505 0.876000 0.50452 2.081000 0.41596 2.631000 0.89168 0.637000 0.83480 . TCGA-3A-A9I7-01A-21D-A38G-08 HLA-DMB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076340.2 0 0 0 7 287 1 122 0 7.655348e-03 0 5 1 122 2 0 0 0 0 0 2 1 0.979983 7 283 0 119 2 0 0 0 1 122 2 -3.197101 1 1 0 0 1 0 0 0 1.956820 0 0.190000 1.940000 0.164604 0.250000 0.110000 0.460000 0.240000 0.271101 0.250000 0 0.170000 0.360000 ZNF318 24149 broad.mit.edu 37 6 43307934 43307934 + Missense_Mutation SNP G G C TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr6:43307934G>C ENST00000361428.2 - 10 3879 c.3802C>G c.(3802-3804)Cca>Gca p.P1268A ZNF318_ENST00000318149.3_Intron NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GATGATGTTGGTGATTCCTTC 0.403000 0 SO:0001583 missense ENST00000361428.2 1 1 hg19 CCDS4895.2 . . . . . . . . . . G 9.057 0.993512 0.19043 . . ENSG00000171467 ENST00000361428 T 0.46063 0.88 5.16 3.37 0.38596 . 0.468764 0.19877 N 0.104057 T 0.12305 0.0299 N 0.19112 0.55 0.19300 N 0.999976 B 0.33171 0.4 B 0.33960 0.173 T 0.07654 -1.0761 10 0.56958 D 0.05 -0.0185 8.6041 0.33762 0.1777:0.0:0.8223:0.0 . 1268 Q5VUA4 ZN318_HUMAN A 1268 ENSP00000354964:P1268A ENSP00000354964:P1268A P - 1 0 ZNF318 43415912 0.336000 0.24757 0.270000 0.24601 0.907000 0.53573 0.707000 0.25704 0.740000 0.32651 0.655000 0.94253 CCA TCGA-3A-A9I7-01A-21D-A38G-08 ZNF318-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040601.2 0 0 0 20 820 0 285 0 1.634064e-02 0 8 0 285 2 0 0 0 0 0 2 1 0.999994 19 806 0 284 2 0 0 0 0 285 2 -15.061600 1 1 0 0 1 0 0 0 1.956820 0 0.190000 1.940000 0.164604 0.240000 0.150000 0.360000 0.240000 0.253016 0.240000 0 0.190000 0.310000 DENND2A 27147 broad.mit.edu 37 7 140301961 140301961 + Silent SNP C C T TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr7:140301961C>T ENST00000275884.6 - 2 654 c.237G>A c.(235-237)acG>acA p.T79T DENND2A_ENST00000492720.1_Silent_p.T79T|DENND2A_ENST00000496613.1_Silent_p.T79T|DENND2A_ENST00000537639.1_Silent_p.T79T Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 49 Melanoma(164;0.00956) TCCTCTCCACCGTAGAGGACG 0.522000 0 SO:0001819 synonymous_variant ENST00000275884.6 1 1 hg19 CCDS43659.1 TCGA-3A-A9I7-01A-21D-A38G-08 DENND2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348742.1 1 0 0 38 543 0 188 0 3.960872e-02 0 5 0 188 2 0 0 0 0 1 2 1 1.000000 38 533 0 183 2 0 0 0 0 188 2 -2.619822 1 1 0 0 1 2 3 5 2.201802 1 0.190000 1.940000 0.257698 0.790000 0.550000 1.000000 0.740000 0.812610 0.790000 0 0.650000 1.000000 RADIL 55698 broad.mit.edu 37 7 4917411 4917411 + Silent SNP G G A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr7:4917411G>A ENST00000399583.3 - 2 547 c.360C>T c.(358-360)ggC>ggT p.G120G RADIL_ENST00000536091.1_Silent_p.G120G NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 41 Ovarian(82;0.0175) GCCCAGCATCGCCGGCTTGGC 0.647000 0 SO:0001819 synonymous_variant ENST00000399583.3 1 1 hg19 CCDS43544.1 TCGA-3A-A9I7-01A-21D-A38G-08 RADIL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000323769.2 1 0 0 21 364 0 156 0 3.369829e-03 0 2 0 156 2 0 0 0 0 0 2 1 0.999997 20 357 0 154 2 0 0 0 0 156 2 -5.527357 1 1 120946 3 38 1 1 2 3 2.051472 0 0.190000 1.940000 0.200632 0.600000 0.370000 1.000000 0.580000 0.644606 0.600000 0 0.480000 0.810000 ARHGEF10 9639 broad.mit.edu 37 8 1841800 1841800 + Silent SNP G G A TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr8:1841800G>A ENST00000398564.1 + 12 1323 c.1323G>A c.(1321-1323)aaG>aaA p.K441K ARHGEF10_ENST00000520359.1_Silent_p.K378K|ARHGEF10_ENST00000518288.1_Silent_p.K441K|ARHGEF10_ENST00000349830.3_Silent_p.K416K|ARHGEF10_ENST00000398560.1_Silent_p.K402K|ARHGEF10_ENST00000262112.6_Silent_p.K441K O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) ATGCTCTTAAGAGGATTTTGG 0.313000 0 SO:0001819 synonymous_variant ENST00000398564.1 1 1 hg19 TCGA-3A-A9I7-01A-21D-A38G-08 ARHGEF10-203 KNOWN basic protein_coding protein_coding 1 0 0 19 321 0 89 0 3.268954e-01 1 19 0 89 2 0 0 0 0 0 2 1 0.999990 19 316 0 88 2 0 0 0 0 89 2 -3.223548 1 1 0 0 1 1 2 3 2.024692 0 0.190000 1.940000 0.195351 0.600000 0.370000 1.000000 0.590000 0.633517 0.600000 0 0.480000 0.780000 DDHD2 23259 broad.mit.edu 37 8 38110300 38110300 + Missense_Mutation SNP A A G TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr8:38110300A>G ENST00000397166.2 + 14 2203 c.1678A>G c.(1678-1680)Atg>Gtg p.M560V DDHD2_ENST00000517385.1_Missense_Mutation_p.M179V|DDHD2_ENST00000529845.1_Missense_Mutation_p.M11V|DDHD2_ENST00000520272.2_Missense_Mutation_p.M560V NM_015214.2 NP_056029.2 O94830 DDHD2_HUMAN DDHD domain containing 2 28 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) ATTTGAGCCAATGCTGATCCC 0.453000 0 SO:0001583 missense ENST00000397166.2 1 1 hg19 CCDS34883.1 . . . . . . . . . . A 5.136 0.210761 0.09757 . . ENSG00000085788 ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845 T;T 0.24908 1.83;1.83 5.34 5.34 0.76211 DDHD (2); 0.038953 0.85682 D 0.000000 T 0.12902 0.0313 N 0.11000 0.08 0.50813 D 0.999897 B 0.14012 0.009 B 0.15052 0.012 T 0.07065 -1.0792 10 0.02654 T 1 -27.1583 14.7906 0.69841 1.0:0.0:0.0:0.0 . 560 O94830 DDHD2_HUMAN V 560;560;179;11 ENSP00000380352:M560V;ENSP00000429932:M560V ENSP00000380352:M560V M + 1 0 DDHD2 38229457 1.000000 0.71417 1.000000 0.80357 0.969000 0.65631 5.405000 0.66351 2.143000 0.66587 0.260000 0.18958 ATG TCGA-3A-A9I7-01A-21D-A38G-08 DDHD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377251.2 1 0 1 23 267 0 98 1 9.493398e-01 6 54 0 98 2 0 0 0 0 0 2 1 0.999999 23 261 0 98 2 0 0 0 0 98 2 -20.000000 1 1 121412 3 33 1 1 2 3 2.024692 0 0.190000 1.940000 0.195351 0.850000 0.550000 1.000000 1.000000 0.846914 0.850000 1 0.690000 1.000000 CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A rs121913385 TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx b47f6bb9-23ad-4f47-bb37-b232b97a1ddc c1a3fec7-91d6-4675-9cc3-398269c967c6 g.chr9:21971111G>A ENST00000304494.5 - 2 517 c.247C>T c.(247-249)Cac>Tac p.H83Y CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) GCAGCGTCGTGCACGGGTCGG 0.741000 H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 1403 Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1) GRCh37 CM053801|CM056557 CDKN2A M rs121913385 SO:0001583 missense ENST00000304494.5 1 1 hg19 CCDS6510.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 26.7|26.7 4.762523|4.762523 0.89932|0.89932 .|. .|. ENSG00000147889|ENSG00000147889 ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177 T;T|T;T 0.80393|0.71222 -1.37;-1.31|-0.55;-0.55 5.93|5.93 5.93|5.93 0.95920|0.95920 .|Ankyrin repeat-containing domain (4); 0.000000|. 0.37261|. N|. 0.002164|. T|T 0.77579|0.77579 0.4151|0.4151 L|L 0.27053|0.27053 0.805|0.805 0.46521|0.46521 D|D 0.999085|0.999085 P|D 0.47191|0.76494 0.891|0.999 B|D 0.44044|0.75484 0.439|0.986 T|T 0.79024|0.79024 -0.1972|-0.1972 10|9 0.62326|0.66056 D|D 0.03|0.02 -15.192|-15.192 19.1026|19.1026 0.93279|0.93279 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. 138|83 Q8N726|P42771 CD2A2_HUMAN|CD2A1_HUMAN V|Y 138;97|83 ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y ENSP00000355153:A138V|ENSP00000307101:H83Y A|H -|- 2|1 0|0 CDKN2A|CDKN2A 21961111|21961111 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.915000|0.915000 0.54546|0.54546 8.665000|8.665000 0.91144|0.91144 2.803000|2.803000 0.96430|0.96430 0.650000|0.650000 0.86243|0.86243 GCA|CAC TCGA-3A-A9I7-01A-21D-A38G-08 CDKN2A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000051915.1 0 0 0 7 97 0 42 1 9.999527e-01 340 10 0 42 2 1 9.968348e-01 9 150 0 74 2 1 0.966250 6 81 0 34 2 0 0 0 0 42 2 -11.491640 1 1 0 0 1 0 1 1 1.917149 0 0.190000 1.940000 0.137564 0.660000 0.300000 1.000000 1.000000 0.683413 0.660000 0 0.460000 0.920000