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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source A2ML1 144568 genome.wustl.edu 37 12 9013793 9013793 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 9013793 9013793 C T SNP A2ML1 ENST00000299698 human ensembl 70_37 +1 known silent c.3402 p.L1134 0.206 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC AACS 65985 genome.wustl.edu 37 12 125591715 125591715 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 125591715 125591715 G A SNP AACS ENST00000316519 human ensembl 70_37 +1 known silent c.816 p.P272 0.002 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC AATK 9625 genome.wustl.edu 37 17 79096487 79096487 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 79096487 79096487 G C SNP AATK ENST00000326724 human ensembl 70_37 -1 known missense c.1249 p.L417V 0.257 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ACAD11 84129 genome.wustl.edu 37 3 132294631 132294631 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 132294631 132294631 C T SNP ACAD11 ENST00000264990 human ensembl 70_37 -1 known silent c.1986 p.K662 1.000 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ACOX1 51 genome.wustl.edu 37 17 73975168 73975168 + RNA SNP T T G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 73975168 73975168 T G SNP ACOX1 ENST00000591857 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ACOX1 HGNC ACRC 93953 genome.wustl.edu 37 X 70824020 70824020 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 70824020 70824020 G A SNP ACRC ENST00000373695 human ensembl 70_37 +1 known missense c.893 p.S298N 0.026 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ACRC 93953 genome.wustl.edu 37 X 70824021 70824021 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 70824021 70824021 C G SNP ACRC ENST00000373695 human ensembl 70_37 +1 known missense c.894 p.S298R 0.010 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ACVRL1 94 genome.wustl.edu 37 12 52309927 52309927 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 52309927 52309927 C T SNP ACVRL1 ENST00000550683 human ensembl 70_37 +1 known missense c.1198 p.R400C 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVRL1 HGNC ADAM12 8038 genome.wustl.edu 37 10 127786985 127786985 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 127786985 127786985 C T SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known missense c.1005 p.M335I 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ADAM7 8756 genome.wustl.edu 37 8 24350098 24350098 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 24350098 24350098 C A SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known missense c.1643 p.P548H 0.615 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ADC 0 genome.wustl.edu 37 1 33547748 33547748 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 33547748 33547748 G A SNP ADC ENST00000484656 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ADC HGNC ADO 84890 genome.wustl.edu 37 10 64565423 64565423 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 64565423 64565423 G A SNP ADO ENST00000373783 human ensembl 70_37 +1 known missense c.604 p.A202T 0.999 pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors ADO HGNC ADRA2C 152 genome.wustl.edu 37 4 3769489 3769489 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 3769489 3769489 G T SNP ADRA2C ENST00000330055 human ensembl 70_37 +1 known missense c.1156 p.V386L 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2C,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA2C HGNC ADRBK2 157 genome.wustl.edu 37 22 26110434 26110434 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 26110434 26110434 G T SNP ADRBK2 ENST00000324198 human ensembl 70_37 +1 known missense c.1551 p.W517C 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC AGBL5 60509 genome.wustl.edu 37 2 27281371 27281371 + Nonsense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 27281371 27281371 G A SNP AGBL5 ENST00000360131 human ensembl 70_37 +1 known nonsense c.1775 p.W592* 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC AKAP12 9590 genome.wustl.edu 37 6 151673302 151673302 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 151673302 151673302 C T SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.3776 p.S1259L 0.000 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ALDH1L1 10840 genome.wustl.edu 37 3 125876203 125876203 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 125876203 125876203 C G SNP ALDH1L1 ENST00000393434 human ensembl 70_37 -1 known missense c.511 p.E171Q 0.999 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ALG8 79053 genome.wustl.edu 37 11 77850611 77850611 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 77850611 77850611 C T SNP ALG8 ENST00000299626 human ensembl 70_37 -1 known silent c.24 p.T8 0.000 NULL pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC AMN1 196394 genome.wustl.edu 37 12 31882028 31882028 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 31882028 31882028 G A SNP AMN1 ENST00000509386 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMN1 HGNC ANAPC2 29882 genome.wustl.edu 37 9 140069483 140069483 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 140069483 140069483 C T SNP ANAPC2 ENST00000323927 human ensembl 70_37 -1 known missense c.2380 p.E794K 1.000 pfam_APC_su2_C pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC APOB 338 genome.wustl.edu 37 2 21228795 21228795 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 21228795 21228795 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.10945 p.E3649K 0.245 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ARAP1 116985 genome.wustl.edu 37 11 72422481 72422481 + Silent SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 72422481 72422481 A G SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known silent c.1086 p.S362 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ARFGAP2 84364 genome.wustl.edu 37 11 47188066 47188066 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 47188066 47188066 G A SNP ARFGAP2 ENST00000524782 human ensembl 70_37 -1 known missense c.1417 p.H473Y 0.971 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ARHGEF10L 55160 genome.wustl.edu 37 1 18023599 18023599 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 18023599 18023599 C T SNP ARHGEF10L ENST00000361221 human ensembl 70_37 +1 known silent c.3564 p.L1188 0.887 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ARHGEF15 22899 genome.wustl.edu 37 17 8222400 8222400 + Silent SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 8222400 8222400 A G SNP ARHGEF15 ENST00000361926 human ensembl 70_37 +1 known silent c.2109 p.G703 0.942 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ARID5A 10865 genome.wustl.edu 37 2 97217767 97217767 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 97217767 97217767 G T SNP ARID5A ENST00000357485 human ensembl 70_37 +1 known missense c.1502 p.R501M 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ARPP21 10777 genome.wustl.edu 37 3 35778726 35778726 + Nonsense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 35778726 35778726 C T SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known nonsense c.1414 p.Q472* 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ASNSD1 54529 genome.wustl.edu 37 2 190531026 190531026 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 190531026 190531026 G T SNP ASNSD1 ENST00000260952 human ensembl 70_37 +1 known missense c.168 p.L56F 0.998 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ASTE1 28990 genome.wustl.edu 37 3 130733047 130733047 + Frame_Shift_Del DEL T T - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 130733047 130733047 T - DEL ASTE1 ENST00000264992 human ensembl 70_37 -1 known frame_shift_del c.1894 p.R632fs 0.014 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ATAD5 79915 genome.wustl.edu 37 17 29161432 29161432 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 29161432 29161432 G A SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known silent c.333 p.K111 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ATAD5 79915 genome.wustl.edu 37 17 29162264 29162264 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 29162264 29162264 G A SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known missense c.1165 p.E389K 0.997 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ATAD5 79915 genome.wustl.edu 37 17 29162536 29162536 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 29162536 29162536 G C SNP ATAD5 ENST00000321990 human ensembl 70_37 +1 known missense c.1437 p.K479N 0.826 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ATP10A 57194 genome.wustl.edu 37 15 26107970 26107970 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 26107970 26107970 C T SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.274 p.V92I 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ATP8A2 51761 genome.wustl.edu 37 13 26145785 26145785 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 26145785 26145785 C T SNP ATP8A2 ENST00000381655 human ensembl 70_37 +1 known silent c.1617 p.G539 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8A2 HGNC BAG5 9529 genome.wustl.edu 37 14 104027364 104027365 + Frame_Shift_Ins INS - - AG TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 104027364 104027365 - AG INS BAG5 ENST00000337322 human ensembl 70_37 -1 known frame_shift_ins c.261_260 p.T88fs 0.036:0.417 pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG5 HGNC BAIAP2L2 80115 genome.wustl.edu 37 22 38504320 38504320 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 38504320 38504320 G A SNP BAIAP2L2 ENST00000381669 human ensembl 70_37 -1 known silent c.156 p.F52 0.994 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC BTBD16 118663 genome.wustl.edu 37 10 124089058 124089058 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 124089058 124089058 C T SNP BTBD16 ENST00000368994 human ensembl 70_37 +1 known silent c.978 p.L326 0.083 NULL superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC BTNL2 56244 genome.wustl.edu 37 6 32364126 32364126 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 32364126 32364126 G A SNP BTNL2 ENST00000468270 human ensembl 70_37 -1 known silent c.768 p.L256 0.538 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors BTNL2 HGNC C17orf75 64149 genome.wustl.edu 37 17 30661853 30661853 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 30661853 30661853 C G SNP C17orf75 ENST00000225805 human ensembl 70_37 -1 known missense c.675 p.L225F 1.000 NULL NULL - no_errors C17orf75 HGNC C20orf194 25943 genome.wustl.edu 37 20 3340183 3340183 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 3340183 3340183 G C SNP C20orf194 ENST00000252032 human ensembl 70_37 -1 known missense c.670 p.L224V 0.995 NULL NULL - no_errors C20orf194 HGNC C2orf73 129852 genome.wustl.edu 37 2 54587459 54587460 + Frame_Shift_Del DEL AG AG - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 54587459 54587460 AG - DEL C2orf73 ENST00000398634 human ensembl 70_37 +1 known frame_shift_del c.624_625 p.K210fs 1.000:1.000 NULL NULL - no_errors C2orf73 HGNC C6orf89 221477 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 70_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC C7 730 genome.wustl.edu 37 5 40981528 40981528 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 40981528 40981528 G A SNP C7 ENST00000313164 human ensembl 70_37 +1 known silent c.2385 p.S795 0.000 smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC C9orf114 51490 genome.wustl.edu 37 9 131591027 131591027 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 131591027 131591027 C T SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known silent c.195 p.E65 0.000 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC CCDC180 100499483 genome.wustl.edu 37 9 100127814 100127814 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 100127814 100127814 G A SNP C9orf174 ENST00000483504 human ensembl 70_37 +1 known rna NULL NULL 0.406 - - - no_errors C9orf174 HGNC CACUL1 143384 genome.wustl.edu 37 10 120488876 120488876 + Silent SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 120488876 120488876 C G SNP CACUL1 ENST00000369151 human ensembl 70_37 -1 known silent c.528 p.S176 0.719 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC CAPN3 825 genome.wustl.edu 37 15 42678418 42678418 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 42678418 42678418 C T SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known missense c.433 p.L145F 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC CCDC146 57639 genome.wustl.edu 37 7 76797094 76797094 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 7 76797094 76797094 C T SNP CCDC146 ENST00000285871 human ensembl 70_37 +1 known missense c.109 p.R37W 0.984 NULL NULL - no_errors CCDC146 HGNC CCNJL 79616 genome.wustl.edu 37 5 159696530 159696530 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 159696530 159696530 G A SNP CCNJL ENST00000505287 human ensembl 70_37 -1 known missense c.437 p.S146F 0.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like - no_errors CCNJL HGNC CCR1 1230 genome.wustl.edu 37 3 46244783 46244783 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 46244783 46244783 G C SNP CCR1 ENST00000296140 human ensembl 70_37 -1 known missense c.1022 p.S341C 0.988 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_P2_purnocptor,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC CD300LF 146722 genome.wustl.edu 37 17 72691888 72691888 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 72691888 72691888 C T SNP CD300LF ENST00000326165 human ensembl 70_37 -1 known silent c.693 p.Q231 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LF HGNC CEP120 153241 genome.wustl.edu 37 5 122754060 122754060 + Nonsense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 122754060 122754060 G A SNP CEP120 ENST00000306467 human ensembl 70_37 -1 known nonsense c.199 p.Q67* 1.000 pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP120 HGNC CEP164 22897 genome.wustl.edu 37 11 117266344 117266344 + Nonsense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 117266344 117266344 G T SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known nonsense c.2995 p.E999* 0.000 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC CEP250 11190 genome.wustl.edu 37 20 34055251 34055251 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 34055251 34055251 G T SNP CEP250 ENST00000397527 human ensembl 70_37 +1 known missense c.722 p.R241L 0.000 NULL superfamily_Prefoldin - no_errors CEP250 HGNC CHRNA7 1139 genome.wustl.edu 37 15 32460293 32460293 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 32460293 32460293 C T SNP CHRNA7 ENST00000454250 human ensembl 70_37 +1 known silent c.1230 p.N410 0.569 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC CNTLN 54875 genome.wustl.edu 37 9 17394799 17394799 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 17394799 17394799 G A SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known missense c.2347 p.A783T 0.290 NULL superfamily_Prefoldin - no_errors CNTLN HGNC CTRB2 440387 genome.wustl.edu 37 16 75238138 75238138 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 75238138 75238138 C T SNP CTRB2 ENST00000303037 human ensembl 70_37 -1 known missense c.713 p.C238Y 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CTRB2 HGNC CUL9 23113 genome.wustl.edu 37 6 43163825 43163825 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 43163825 43163825 G A SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.2407 p.V803I 0.999 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC CXXC1 30827 genome.wustl.edu 37 18 47809337 47809337 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 18 47809337 47809337 C G SNP CXXC1 ENST00000412036 human ensembl 70_37 -1 known missense c.1723 p.D575H 0.994 pfam_CpG-bd_C pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC CXXC1 30827 genome.wustl.edu 37 18 47810186 47810186 + Splice_Site SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 18 47810186 47810186 C G SNP CXXC1 ENST00000412036 human ensembl 70_37 -1 known splice_site c.1426-1 e11-1 1.000 - - - no_errors CXXC1 HGNC CYP2G1P 22952 genome.wustl.edu 37 19 41397180 41397180 + RNA SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 41397180 41397180 C T SNP CYP2G1P ENST00000252909 human ensembl 70_37 +1 known rna NULL NULL 0.682 - - - no_errors CYP2G1P HGNC DACT2 168002 genome.wustl.edu 37 6 168708526 168708526 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 168708526 168708526 C T SNP DACT2 ENST00000366795 human ensembl 70_37 -1 known silent c.1911 p.R637 0.010 NULL NULL - no_errors DACT2 HGNC DCTD 1635 genome.wustl.edu 37 4 183814220 183814220 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 183814220 183814220 G A SNP DCTD ENST00000357067 human ensembl 70_37 -1 known missense c.455 p.A152V 0.931 superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase - no_errors DCTD HGNC DIAPH3 81624 genome.wustl.edu 37 13 60686168 60686168 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 60686168 60686168 G A SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known silent c.366 p.L122 0.986 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC DICER1 23405 genome.wustl.edu 37 14 95590580 95590580 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 95590580 95590580 G A SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known silent c.1329 p.C443 0.992 pfscan_Helicase_C pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC DLG5 9231 genome.wustl.edu 37 10 79553837 79553837 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 79553837 79553837 G A SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.5585 p.T1862I 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC DMXL2 23312 genome.wustl.edu 37 15 51857317 51857317 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 51857317 51857317 G A SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.332 p.S111F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DZIP1 22873 genome.wustl.edu 37 13 96241408 96241408 + Frame_Shift_Del DEL G G - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 96241408 96241408 G - DEL DZIP1 ENST00000347108 human ensembl 70_37 -1 known frame_shift_del c.2027 p.T676fs 0.606 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC EGFLAM 133584 genome.wustl.edu 37 5 38370504 38370504 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 38370504 38370504 G T SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known missense c.652 p.A218S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC EHD4 30844 genome.wustl.edu 37 15 42192914 42192914 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 42192914 42192914 C T SNP EHD4 ENST00000220325 human ensembl 70_37 -1 known missense c.1555 p.E519K 1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD4 HGNC EHMT1 79813 genome.wustl.edu 37 9 140622861 140622861 + Nonsense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 140622861 140622861 G T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known nonsense c.703 p.E235* 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC EIF2B1 1967 genome.wustl.edu 37 12 124111692 124111692 + Silent SNP A A T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 124111692 124111692 A T SNP EIF2B1 ENST00000424014 human ensembl 70_37 -1 known silent c.381 p.T127 0.980 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC AGO2 27161 genome.wustl.edu 37 8 141559340 141559340 + Silent SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 141559340 141559340 G T SNP EIF2C2 ENST00000220592 human ensembl 70_37 -1 known silent c.1461 p.G487 0.995 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000214614 0 genome.wustl.edu 37 16 32896538 32896538 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 32896538 32896538 G A SNP ENSG00000214614 ENST00000566260 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-989E6.3 Clone_based_vega_gene ENSG00000221505 0 genome.wustl.edu 37 X 142534119 142534119 + RNA SNP A A T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 142534119 142534119 A T SNP ENSG00000221505 ENST00000408578 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL030997.1 Clone_based_ensembl_gene ENSG00000235343 0 genome.wustl.edu 37 22 17229222 17229223 + RNA DEL CC CC - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 17229222 17229223 CC - DEL ENSG00000235343 ENST00000422917 human ensembl 70_37 -1 known rna NULL NULL 0.027:0.027 - - - no_errors AC005301.8 Clone_based_vega_gene ENSG00000243155 0 genome.wustl.edu 37 1 180913457 180913457 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 180913457 180913457 G A SNP ENSG00000243155 ENST00000358073 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-46A10.5 Clone_based_vega_gene ENSG00000255441 0 genome.wustl.edu 37 19 51919740 51919740 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 51919740 51919740 G A SNP ENSG00000255441 ENST00000526996 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2616J11.2 Clone_based_vega_gene FAM153A 285596 genome.wustl.edu 37 5 177180192 177180192 + Missense_Mutation SNP T T G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 177180192 177180192 T G SNP FAM153A ENST00000503845 human ensembl 70_37 -1 known missense c.16 p.S6R 0.001 NULL NULL - no_errors FAM153A HGNC FAM188B 84182 genome.wustl.edu 37 7 30898883 30898883 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 7 30898883 30898883 G A SNP FAM188B ENST00000265299 human ensembl 70_37 +1 known missense c.1688 p.G563D 0.949 NULL NULL - no_errors FAM188B HGNC FAM208B 54906 genome.wustl.edu 37 10 5790767 5790767 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 5790767 5790767 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.5383 p.E1795Q 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM208B 54906 genome.wustl.edu 37 10 5791144 5791144 + Silent SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 5791144 5791144 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known silent c.5760 p.G1920 0.108 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM208B 54906 genome.wustl.edu 37 10 5791198 5791198 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 5791198 5791198 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.5814 p.M1938I 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM208B 54906 genome.wustl.edu 37 10 5791687 5791687 + Silent SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 5791687 5791687 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known silent c.6303 p.V2101 0.819 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FBN3 84467 genome.wustl.edu 37 19 8151189 8151189 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 8151189 8151189 G C SNP FBN3 ENST00000270509 human ensembl 70_37 -1 known missense c.6775 p.Q2259E 0.995 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC FBXL14 144699 genome.wustl.edu 37 12 1702314 1702314 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 1702314 1702314 G A SNP FBXL14 ENST00000339235 human ensembl 70_37 -1 known missense c.919 p.L307F 1.000 pfam_Leu-rich_rpt_2,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL14 HGNC FBXL15 79176 genome.wustl.edu 37 10 104182625 104182625 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 104182625 104182625 G A SNP FBXL15 ENST00000224862 human ensembl 70_37 +1 known missense c.778 p.E260K 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL15 HGNC FERMT3 83706 genome.wustl.edu 37 11 63986736 63986736 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 63986736 63986736 G A SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known missense c.800 p.R267Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC FLJ45832 400841 genome.wustl.edu 37 20 29516772 29516772 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 29516772 29516772 G A SNP FLJ45832 ENST00000380888 human ensembl 70_37 -1 known rna NULL NULL 0.024 - - - no_errors RP4-610C12.4 Clone_based_vega_gene FNBP4 23360 genome.wustl.edu 37 11 47758253 47758253 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 47758253 47758253 G A SNP FNBP4 ENST00000263773 human ensembl 70_37 -1 known missense c.1496 p.S499L 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors FNBP4 HGNC FREM3 166752 genome.wustl.edu 37 4 144617829 144617829 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 144617829 144617829 C T SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.4000 p.D1334N 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC FRY 10129 genome.wustl.edu 37 13 32785169 32785169 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 32785169 32785169 C T SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.4589 p.S1530L 0.993 NULL superfamily_ARM-type_fold - no_errors FRY HGNC GABRD 2563 genome.wustl.edu 37 1 1961582 1961582 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 1961582 1961582 C A SNP GABRD ENST00000378585 human ensembl 70_37 +1 known missense c.1220 p.A407D 0.001 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC GALNT13 114805 genome.wustl.edu 37 2 155102390 155102390 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 155102390 155102390 C T SNP GALNT13 ENST00000409237 human ensembl 70_37 +1 known missense c.752 p.S251L 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC GCC2 9648 genome.wustl.edu 37 2 109067510 109067510 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 109067510 109067510 C T SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known silent c.90 p.L30 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC GDPD5 81544 genome.wustl.edu 37 11 75152240 75152240 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 75152240 75152240 G T SNP GDPD5 ENST00000336898 human ensembl 70_37 -1 known missense c.1441 p.L481M 0.991 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC GLRA2 2742 genome.wustl.edu 37 X 14627259 14627259 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 14627259 14627259 G A SNP GLRA2 ENST00000218075 human ensembl 70_37 +1 known missense c.862 p.A288T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC GLRX5 51218 genome.wustl.edu 37 14 96010554 96010554 + RNA SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 96010554 96010554 G C SNP GLRX5 ENST00000553672 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GLRX5 HGNC GPM6B 2824 genome.wustl.edu 37 X 13803802 13803802 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 13803802 13803802 C T SNP GPM6B ENST00000316715 human ensembl 70_37 -1 known missense c.307 p.V103M 0.534 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC GPR155 151556 genome.wustl.edu 37 2 175338010 175338010 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 175338010 175338010 G A SNP GPR155 ENST00000295500 human ensembl 70_37 -1 known silent c.543 p.N181 1.000 pfam_Auxin_eff pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC GTPBP1 9567 genome.wustl.edu 37 22 39101980 39101980 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 39101980 39101980 G A SNP GTPBP1 ENST00000216044 human ensembl 70_37 +1 known missense c.20 p.R7H 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP1 HGNC HAUS5 23354 genome.wustl.edu 37 19 36110587 36110587 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 36110587 36110587 C T SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known missense c.1333 p.R445C 0.012 NULL NULL - no_errors HAUS5 HGNC HESX1 8820 genome.wustl.edu 37 3 57232308 57232308 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 57232308 57232308 G A SNP HESX1 ENST00000295934 human ensembl 70_37 -1 known missense c.475 p.R159W 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HESX1 HGNC HEYL 26508 genome.wustl.edu 37 1 40092744 40092744 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 40092744 40092744 C T SNP HEYL ENST00000372852 human ensembl 70_37 -1 known missense c.422 p.R141H 0.334 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HEYL HGNC HIVEP1 3096 genome.wustl.edu 37 6 12120788 12120788 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 12120788 12120788 G C SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.760 p.E254Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HN1 51155 genome.wustl.edu 37 17 73144629 73144629 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 73144629 73144629 G A SNP HN1 ENST00000356033 human ensembl 70_37 -1 known missense c.194 p.S65L 0.750 NULL NULL - no_errors HN1 HGNC ICA1 3382 genome.wustl.edu 37 7 8153554 8153554 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 7 8153554 8153554 C T SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known silent c.1538 p.*513 1.000 NULL pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC IGF2BP2 10644 genome.wustl.edu 37 3 185393021 185393022 + RNA DEL GC GC - TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 185393021 185393022 GC - DEL IGF2BP2 ENST00000496495 human ensembl 70_37 -1 known rna NULL NULL 0.001:0.057 - - - no_errors IGF2BP2 HGNC IL22RA1 58985 genome.wustl.edu 37 1 24454745 24454745 + Missense_Mutation SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 24454745 24454745 A G SNP IL22RA1 ENST00000270800 human ensembl 70_37 -1 known missense c.556 p.Y186H 0.998 pfam_Interferon_alpha/beta_rcpt_bsu pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC KCNJ6 3763 genome.wustl.edu 37 21 39086695 39086695 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 21 39086695 39086695 C A SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known missense c.765 p.L255F 0.998 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC KIAA0100 9703 genome.wustl.edu 37 17 26962131 26962131 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 26962131 26962131 G A SNP KIAA0100 ENST00000005905 human ensembl 70_37 -1 known missense c.2474 p.S825L 0.633 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC KIAA1239 57495 genome.wustl.edu 37 4 37444966 37444966 + Missense_Mutation SNP A A T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 37444966 37444966 A T SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known missense c.1356 p.R452S 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC KIAA1429 25962 genome.wustl.edu 37 8 95500998 95500998 + Nonsense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 95500998 95500998 G T SNP KIAA1429 ENST00000297591 human ensembl 70_37 -1 known nonsense c.5375 p.S1792* 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC KIF27 55582 genome.wustl.edu 37 9 86530456 86530456 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 9 86530456 86530456 G A SNP KIF27 ENST00000297814 human ensembl 70_37 -1 known silent c.51 p.C17 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC LAMC1 3915 genome.wustl.edu 37 1 183077436 183077436 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 183077436 183077436 G C SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known missense c.749 p.R250T 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC LEO1 123169 genome.wustl.edu 37 15 52252223 52252223 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 52252223 52252223 G C SNP LEO1 ENST00000299601 human ensembl 70_37 -1 known missense c.1033 p.Q345E 1.000 NULL pfam_Leo1 - no_errors LEO1 HGNC LHX1 3975 genome.wustl.edu 37 17 35298151 35298151 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 35298151 35298151 G A SNP LHX1 ENST00000254457 human ensembl 70_37 +1 known silent c.642 p.A214 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX1 HGNC LMAN2L 81562 genome.wustl.edu 37 2 97405604 97405604 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 97405604 97405604 C T SNP LMAN2L ENST00000377079 human ensembl 70_37 -1 known silent c.174 p.S58 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2L HGNC LOC285556 285556 genome.wustl.edu 37 4 100573320 100573320 + Missense_Mutation SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 100573320 100573320 A G SNP LOC285556 ENST00000511828 human ensembl 70_37 -1 putative missense c.2486 p.M829T 1.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene LPO 4025 genome.wustl.edu 37 17 56327979 56327979 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 56327979 56327979 C T SNP LPO ENST00000262290 human ensembl 70_37 +1 known silent c.777 p.I259 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC LPPR2 64748 genome.wustl.edu 37 19 11475044 11475044 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 11475044 11475044 G A SNP LPPR2 ENST00000591608 human ensembl 70_37 +1 known missense c.962 p.R321H 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR2 Uniprot_genename MAGEA6 4105 genome.wustl.edu 37 X 151869756 151869756 + Missense_Mutation SNP T T C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 151869756 151869756 T C SNP MAGEA6 ENST00000329342 human ensembl 70_37 +1 known missense c.446 p.V149A 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC MAGEC3 139081 genome.wustl.edu 37 X 140983110 140983110 + Missense_Mutation SNP A A T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 140983110 140983110 A T SNP MAGEC3 ENST00000298296 human ensembl 70_37 +1 known missense c.965 p.E322V 0.005 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC MAGEE2 139599 genome.wustl.edu 37 X 75003785 75003785 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 75003785 75003785 G C SNP MAGEE2 ENST00000373359 human ensembl 70_37 -1 known missense c.1102 p.L368V 0.990 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC MAGI3 260425 genome.wustl.edu 37 1 114216044 114216044 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 114216044 114216044 G A SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.3146 p.R1049H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI3 HGNC MCTP2 55784 genome.wustl.edu 37 15 94858857 94858857 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 94858857 94858857 G A SNP MCTP2 ENST00000357742 human ensembl 70_37 +1 known missense c.628 p.D210N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC MICALL2 79778 genome.wustl.edu 37 7 1484696 1484696 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 7 1484696 1484696 C T SNP MICALL2 ENST00000297508 human ensembl 70_37 -1 known missense c.1010 p.R337H 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC MIR1203 100302211 genome.wustl.edu 37 17 46233793 46233793 + RNA SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 46233793 46233793 C T SNP MIR1203 ENST00000408812 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR1203 HGNC MIR1307 100302174 genome.wustl.edu 37 10 105154054 105154054 + RNA SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 105154054 105154054 C T SNP MIR1307 ENST00000408840 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR1307 HGNC MKL2 57496 genome.wustl.edu 37 16 14334201 14334201 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 14334201 14334201 G C SNP MKL2 ENST00000341243 human ensembl 70_37 +1 known missense c.906 p.Q302H 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MKL2 HGNC MOB3C 148932 genome.wustl.edu 37 1 47080684 47080684 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 47080684 47080684 C T SNP MOB3C ENST00000271139 human ensembl 70_37 -1 known missense c.65 p.R22K 0.928 NULL pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC MOGS 7841 genome.wustl.edu 37 2 74688764 74688764 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 74688764 74688764 C T SNP MOGS ENST00000233616 human ensembl 70_37 -1 known missense c.2152 p.D718N 1.000 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC MT1JP 4498 genome.wustl.edu 37 16 56670196 56670196 + RNA SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 56670196 56670196 G C SNP MT1JP ENST00000564564 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MT1JP HGNC MUC20 200958 genome.wustl.edu 37 3 195345578 195345578 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 195345578 195345578 C T SNP MUC20 ENST00000381954 human ensembl 70_37 +1 known silent c.51 p.H17 0.021 NULL NULL - no_errors MUC20 HGNC MYOZ1 58529 genome.wustl.edu 37 10 75399732 75399732 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 75399732 75399732 G A SNP MYOZ1 ENST00000359322 human ensembl 70_37 -1 known missense c.44 p.S15F 1.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ1 HGNC NCOR1 9611 genome.wustl.edu 37 17 15964768 15964768 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 15964768 15964768 G A SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known missense c.5828 p.S1943L 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC NFATC4 4776 genome.wustl.edu 37 14 24838985 24838985 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 24838985 24838985 G A SNP NFATC4 ENST00000413692 human ensembl 70_37 +1 known silent c.570 p.P190 0.763 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC NKX6-1 4825 genome.wustl.edu 37 4 85414693 85414693 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 85414693 85414693 G T SNP NKX6-1 ENST00000295886 human ensembl 70_37 -1 known missense c.853 p.Q285K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC NPHP4 261734 genome.wustl.edu 37 1 5993304 5993304 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 5993304 5993304 G T SNP NPHP4 ENST00000378156 human ensembl 70_37 -1 known missense c.1205 p.S402Y 0.001 NULL NULL - no_errors NPHP4 HGNC NR1H2 7376 genome.wustl.edu 37 19 50885827 50885827 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 50885827 50885827 C G SNP NR1H2 ENST00000253727 human ensembl 70_37 +1 known missense c.1351 p.L451V 0.858 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Ecdystd_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC OR2H2 7932 genome.wustl.edu 37 6 29556211 29556211 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 29556211 29556211 C T SNP OR2H2 ENST00000383640 human ensembl 70_37 +1 known silent c.490 p.L164 0.954 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2H2 HGNC OR4M2 390538 genome.wustl.edu 37 15 22368878 22368878 + Silent SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 22368878 22368878 C G SNP OR4M2 ENST00000332663 human ensembl 70_37 +1 known silent c.303 p.L101 0.541 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC OR52N1 79473 genome.wustl.edu 37 11 5809374 5809374 + Nonsense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 5809374 5809374 G A SNP OR52N1 ENST00000317078 human ensembl 70_37 -1 known nonsense c.673 p.Q225* 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC PAF1 54623 genome.wustl.edu 37 19 39879479 39879479 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 39879479 39879479 C T SNP PAF1 ENST00000221265 human ensembl 70_37 -1 known silent c.663 p.V221 0.839 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC PCDHB14 56122 genome.wustl.edu 37 5 140603505 140603505 + Nonsense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 140603505 140603505 C G SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known nonsense c.428 p.S143* 0.311 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC PCDHB14 56122 genome.wustl.edu 37 5 140604233 140604233 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 140604233 140604233 C G SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known missense c.1156 p.Q386E 0.041 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC PCDHB4 56131 genome.wustl.edu 37 5 140502607 140502607 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 140502607 140502607 C T SNP PCDHB4 ENST00000194152 human ensembl 70_37 +1 known missense c.1027 p.P343S 0.088 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC PDP1 54704 genome.wustl.edu 37 8 94934993 94934993 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 94934993 94934993 C T SNP PDP1 ENST00000396200 human ensembl 70_37 +1 known silent c.781 p.L261 0.988 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP1 HGNC PGAP1 80055 genome.wustl.edu 37 2 197784868 197784868 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 197784868 197784868 C G SNP PGAP1 ENST00000354764 human ensembl 70_37 -1 known missense c.154 p.E52Q 0.998 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC PHC2 1912 genome.wustl.edu 37 1 33832940 33832940 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 33832940 33832940 G A SNP PHC2 ENST00000419414 human ensembl 70_37 -1 known silent c.753 p.A251 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC PHEX 5251 genome.wustl.edu 37 X 22095639 22095639 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 22095639 22095639 G A SNP PHEX ENST00000379374 human ensembl 70_37 +1 known missense c.482 p.R161Q 0.998 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC PIEZO2 63895 genome.wustl.edu 37 18 10789223 10789223 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 18 10789223 10789223 G T SNP PIEZO2 ENST00000582913 human ensembl 70_37 -1 known missense c.2023 p.L675M 0.345 NULL NULL - no_errors PIEZO2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIWIL3 440822 genome.wustl.edu 37 22 25115784 25115784 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 22 25115784 25115784 C T SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known silent c.2463 p.T821 0.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC PLA2G4F 255189 genome.wustl.edu 37 15 42442920 42442920 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 15 42442920 42442920 C T SNP PLA2G4F ENST00000397272 human ensembl 70_37 -1 known silent c.657 p.L219 0.593 NULL pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC PLCE1 51196 genome.wustl.edu 37 10 95849061 95849061 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 95849061 95849061 C G SNP PLCE1 ENST00000371375 human ensembl 70_37 +1 known missense c.210 p.F70L 0.131 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PLTP 5360 genome.wustl.edu 37 20 44536510 44536510 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 44536510 44536510 G A SNP PLTP ENST00000542937 human ensembl 70_37 -1 known silent c.579 p.T193 0.999 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC PLXNA3 55558 genome.wustl.edu 37 X 153692561 153692561 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 153692561 153692561 C T SNP PLXNA3 ENST00000369682 human ensembl 70_37 +1 known missense c.1733 p.A578V 0.194 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC PNN 5411 genome.wustl.edu 37 14 39650617 39650617 + Missense_Mutation SNP T T G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 14 39650617 39650617 T G SNP PNN ENST00000216832 human ensembl 70_37 +1 known missense c.1704 p.N568K 1.000 NULL pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC POMC 5443 genome.wustl.edu 37 2 25387630 25387630 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 25387630 25387630 C T SNP POMC ENST00000264708 human ensembl 70_37 -1 known silent c.12 p.S4 0.000 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC PRL 5617 genome.wustl.edu 37 6 22294638 22294638 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 22294638 22294638 G A SNP PRL ENST00000306482 human ensembl 70_37 -1 known silent c.204 p.F68 0.997 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC PRR23B 389151 genome.wustl.edu 37 3 138739178 138739178 + Missense_Mutation SNP T T C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 138739178 138739178 T C SNP PRR23B ENST00000329447 human ensembl 70_37 -1 known missense c.326 p.D109G 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23B HGNC PSD 5662 genome.wustl.edu 37 10 104163067 104163067 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 104163067 104163067 G C SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.2965 p.P989A 0.001 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC PSMA1 5682 genome.wustl.edu 37 11 14535160 14535160 + Nonsense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 14535160 14535160 G C SNP PSMA1 ENST00000418988 human ensembl 70_37 -1 known nonsense c.518 p.S173* 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA1 HGNC PTP4A3 11156 genome.wustl.edu 37 8 142437923 142437923 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 8 142437923 142437923 C A SNP PTP4A3 ENST00000329397 human ensembl 70_37 +1 known missense c.403 p.Q135K 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTP4A3 HGNC PTPRU 10076 genome.wustl.edu 37 1 29641984 29641984 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 29641984 29641984 C G SNP PTPRU ENST00000345512 human ensembl 70_37 +1 known missense c.3358 p.L1120V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC REG3A 5068 genome.wustl.edu 37 2 79385787 79385787 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 79385787 79385787 G A SNP REG3A ENST00000305165 human ensembl 70_37 -1 known missense c.185 p.T62I 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3A HGNC RERG 85004 genome.wustl.edu 37 12 15262451 15262451 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 15262451 15262451 C T SNP RERG ENST00000256953 human ensembl 70_37 -1 known missense c.193 p.E65K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RERG HGNC RNF126P1 376412 genome.wustl.edu 37 17 55123418 55123418 + RNA SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 55123418 55123418 G A SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RNF126P1 HGNC ROBO2 6092 genome.wustl.edu 37 3 77611801 77611801 + Splice_Site SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 77611801 77611801 G C SNP ROBO2 ENST00000461745 human ensembl 70_37 +1 known splice_site c.1438-1 e10-1 1.000 - - - no_errors ROBO2 HGNC SCML1 6322 genome.wustl.edu 37 X 17768235 17768235 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 17768235 17768235 C T SNP SCML1 ENST00000380041 human ensembl 70_37 +1 known silent c.525 p.L175 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SCML1 HGNC SELL 6402 genome.wustl.edu 37 1 169677817 169677817 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 169677817 169677817 C T SNP SELL ENST00000236147 human ensembl 70_37 -1 known silent c.252 p.A84 0.071 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC SFSWAP 6433 genome.wustl.edu 37 12 132211567 132211567 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 132211567 132211567 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known silent c.915 p.K305 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC SFTPA2 729238 genome.wustl.edu 37 10 81317074 81317074 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 81317074 81317074 C T SNP SFTPA2 ENST00000372325 human ensembl 70_37 -1 known missense c.638 p.R213Q 0.994 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA2 HGNC SIGLEC8 27181 genome.wustl.edu 37 19 51957937 51957937 + Splice_Site SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 51957937 51957937 C T SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known splice_site c.1148+1 e5+1 0.177 - - - no_errors SIGLEC8 HGNC SLC13A2 9058 genome.wustl.edu 37 17 26820598 26820598 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 26820598 26820598 G A SNP SLC13A2 ENST00000444914 human ensembl 70_37 +1 known silent c.1035 p.K345 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC SLC16A14 151473 genome.wustl.edu 37 2 230902230 230902230 + Missense_Mutation SNP T T C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 230902230 230902230 T C SNP SLC16A14 ENST00000295190 human ensembl 70_37 -1 known missense c.1399 p.T467A 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC SLC22A25 387601 genome.wustl.edu 37 11 62933611 62933611 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 62933611 62933611 G A SNP SLC22A25 ENST00000306494 human ensembl 70_37 -1 known missense c.1190 p.P397L 0.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A25 HGNC SLC25A24 29957 genome.wustl.edu 37 1 108735196 108735196 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 108735196 108735196 C A SNP SLC25A24 ENST00000370041 human ensembl 70_37 -1 known missense c.48 p.K16N 0.000 smart_EF_hand_Ca-bd pfam_Mitochondrial_sb/sol_carrier,pfam_EF-hand,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC SOAT2 8435 genome.wustl.edu 37 12 53509917 53509917 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 53509917 53509917 G A SNP SOAT2 ENST00000301466 human ensembl 70_37 +1 known missense c.745 p.E249K 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT2 HGNC SOD1 6647 genome.wustl.edu 37 21 33032016 33032016 + RNA SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 21 33032016 33032016 C G SNP SOD1 ENST00000476106 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SOD1 HGNC SP100 6672 genome.wustl.edu 37 2 231380185 231380185 + Missense_Mutation SNP A A G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 231380185 231380185 A G SNP SP100 ENST00000264052 human ensembl 70_37 +1 known missense c.2470 p.K824E 1.000 pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily pfam_Sp100,pfam_SAND_dom,pfam_HMG_superfamily,superfamily_SAND_dom-like,superfamily_HMG_superfamily,smart_SAND_dom,smart_HMG_superfamily,pfscan_SAND_dom,pfscan_HMG_superfamily - no_errors SP100 HGNC STK32A 202374 genome.wustl.edu 37 5 146722798 146722798 + Silent SNP T T A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 146722798 146722798 T A SNP STK32A ENST00000398521 human ensembl 70_37 +1 known silent c.489 p.L163 0.009 smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32A HGNC STX6 10228 genome.wustl.edu 37 1 180942781 180942781 + RNA SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 180942781 180942781 C T SNP STX6 ENST00000469135 human ensembl 70_37 -1 known rna NULL NULL 0.110 - - - no_errors STX6 HGNC STX8 9482 genome.wustl.edu 37 17 9448547 9448547 + Nonsense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 9448547 9448547 G A SNP STX8 ENST00000306357 human ensembl 70_37 -1 known nonsense c.265 p.R89* 0.474 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC SYTL1 84958 genome.wustl.edu 37 1 27676639 27676639 + RNA SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 27676639 27676639 G T SNP SYTL1 ENST00000490170 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SYTL1 HGNC TAS2R43 259289 genome.wustl.edu 37 12 11244102 11244102 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 12 11244102 11244102 G A SNP TAS2R43 ENST00000531678 human ensembl 70_37 -1 known silent c.727 p.L243 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC TATDN2 9797 genome.wustl.edu 37 3 10312129 10312129 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 10312129 10312129 C T SNP TATDN2 ENST00000287652 human ensembl 70_37 +1 known silent c.1263 p.P421 0.000 NULL pfam_TatD_family - no_errors TATDN2 HGNC TET1 80312 genome.wustl.edu 37 10 70404519 70404519 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 70404519 70404519 G T SNP TET1 ENST00000373644 human ensembl 70_37 +1 known missense c.2033 p.G678V 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC TLR5 7100 genome.wustl.edu 37 1 223286248 223286248 + Silent SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 223286248 223286248 G C SNP TLR5 ENST00000342210 human ensembl 70_37 -1 known silent c.126 p.P42 0.287 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC TMEM51 55092 genome.wustl.edu 37 1 15545935 15545935 + Missense_Mutation SNP G G C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 15545935 15545935 G C SNP TMEM51 ENST00000376008 human ensembl 70_37 +1 known missense c.458 p.R153T 0.527 NULL NULL - no_errors TMEM51 HGNC TP73 7161 genome.wustl.edu 37 1 3638726 3638726 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 1 3638726 3638726 G A SNP TP73 ENST00000378295 human ensembl 70_37 +1 known missense c.571 p.V191M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TPT1-AS1 100190939 genome.wustl.edu 37 13 45965226 45965226 + RNA SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 13 45965226 45965226 C G SNP TPT1-AS1 ENST00000379050 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TPT1-AS1 HGNC TRIM41 90933 genome.wustl.edu 37 5 180661467 180661467 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 5 180661467 180661467 C T SNP TRIM41 ENST00000315073 human ensembl 70_37 +1 known missense c.1585 p.R529C 0.799 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM41 HGNC TTN 7273 genome.wustl.edu 37 2 179410126 179410126 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 179410126 179410126 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.88007 p.R29336K 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179428176 179428176 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 179428176 179428176 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.74979 p.F24993L 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179440107 179440107 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 2 179440107 179440107 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.63048 p.T21016 0.012 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBD1 51174 genome.wustl.edu 37 17 57937752 57937752 + Silent SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 17 57937752 57937752 G T SNP TUBD1 ENST00000325752 human ensembl 70_37 -1 known silent c.1293 p.I431 0.988 superfamily_Tub_FtsZ_C,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC TYR 7299 genome.wustl.edu 37 11 88911318 88911318 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 88911318 88911318 G A SNP TYR ENST00000263321 human ensembl 70_37 +1 known missense c.197 p.G66E 1.000 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC TYROBP 7305 genome.wustl.edu 37 19 36398351 36398351 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 36398351 36398351 C T SNP TYROBP ENST00000262629 human ensembl 70_37 -1 known missense c.226 p.E76K 0.004 NULL NULL - no_errors TYROBP HGNC UBR2 23304 genome.wustl.edu 37 6 42657395 42657395 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 6 42657395 42657395 G A SNP UBR2 ENST00000372899 human ensembl 70_37 +1 known missense c.5113 p.D1705N 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC UMODL1 89766 genome.wustl.edu 37 21 43504341 43504341 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 21 43504341 43504341 C A SNP UMODL1 ENST00000408989 human ensembl 70_37 +1 known missense c.467 p.A156D 0.042 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC UPF3B 65109 genome.wustl.edu 37 X 118979190 118979190 + Missense_Mutation SNP C C G TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 118979190 118979190 C G SNP UPF3B ENST00000276201 human ensembl 70_37 -1 known missense c.440 p.R147T 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC UTP14A 10813 genome.wustl.edu 37 X 129042083 129042083 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 129042083 129042083 C T SNP UTP14A ENST00000371051 human ensembl 70_37 +1 known missense c.53 p.S18L 0.771 NULL pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC VGLL3 389136 genome.wustl.edu 37 3 87018250 87018250 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 87018250 87018250 G A SNP VGLL3 ENST00000398399 human ensembl 70_37 -1 known missense c.427 p.R143W 0.976 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC VWCE 220001 genome.wustl.edu 37 11 61026536 61026536 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 11 61026536 61026536 C T SNP VWCE ENST00000335613 human ensembl 70_37 -1 known missense c.2479 p.A827T 0.000 NULL pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC WDR96 80217 genome.wustl.edu 37 10 105920872 105920872 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 10 105920872 105920872 C T SNP WDR96 ENST00000357060 human ensembl 70_37 -1 known missense c.3463 p.E1155K 1.000 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC WFDC2 10406 genome.wustl.edu 37 20 44099101 44099101 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 44099101 44099101 C T SNP WFDC2 ENST00000372676 human ensembl 70_37 +1 known missense c.152 p.S51L 0.004 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core - no_errors WFDC2 HGNC XPNPEP2 7512 genome.wustl.edu 37 X 128876102 128876102 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed X 128876102 128876102 C A SNP XPNPEP2 ENST00000371106 human ensembl 70_37 +1 known missense c.68 p.T23K 0.057 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC XRN2 22803 genome.wustl.edu 37 20 21328885 21328885 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 21328885 21328885 G A SNP XRN2 ENST00000377191 human ensembl 70_37 +1 known silent c.1767 p.T589 0.692 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC YIPF7 285525 genome.wustl.edu 37 4 44631497 44631497 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 4 44631497 44631497 C T SNP YIPF7 ENST00000332990 human ensembl 70_37 -1 known missense c.421 p.D141N 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF7 HGNC ZFHX3 463 genome.wustl.edu 37 16 72984827 72984827 + Silent SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 16 72984827 72984827 G A SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.2757 p.G919 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZIC1 7545 genome.wustl.edu 37 3 147128760 147128760 + Silent SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 147128760 147128760 C T SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known silent c.861 p.Y287 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ZNF208 7757 genome.wustl.edu 37 19 22157310 22157310 + Missense_Mutation SNP T T C TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 22157310 22157310 T C SNP ZNF208 ENST00000397126 human ensembl 70_37 -1 novel missense c.526 p.K176E 0.031 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ZNF335 63925 genome.wustl.edu 37 20 44596160 44596160 + Missense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 44596160 44596160 C T SNP ZNF335 ENST00000322927 human ensembl 70_37 -1 known missense c.928 p.D310N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ZNF480 147657 genome.wustl.edu 37 19 52825335 52825335 + Nonsense_Mutation SNP C C T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 19 52825335 52825335 C T SNP ZNF480 ENST00000468240 human ensembl 70_37 +1 known nonsense c.832 p.Q278* 0.007 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ZNF619 285267 genome.wustl.edu 37 3 40529636 40529636 + Missense_Mutation SNP C C A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 3 40529636 40529636 C A SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known missense c.1755 p.N585K 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF619 HGNC ZNF831 128611 genome.wustl.edu 37 20 57769075 57769075 + Missense_Mutation SNP G G T TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a18b1abe-5e70-4077-8bb9-fbc2c13a2845 25a5b3f8-5354-48e0-a3c8-05268f2075ed 20 57769075 57769075 G T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel missense c.3001 p.A1001S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC