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 AADAT 51166 genome.wustl.edu 37 4 170991780 170991780 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 170991780 170991780 G A SNP AADAT ENST00000509167 human ensembl 70_37 -1 known silent c.690 p.L230 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AADAT HGNC AATF 26574 genome.wustl.edu 37 17 35346678 35346678 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 35346678 35346678 C T SNP AATF ENST00000225402 human ensembl 70_37 +1 known nonsense c.1282 p.Q428* 0.188 NULL pfam_AATF_C - no_errors AATF HGNC ABCA10 10349 genome.wustl.edu 37 17 67212121 67212121 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 67212121 67212121 C G SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known missense c.693 p.M231I 0.002 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ABCC5 10057 genome.wustl.edu 37 3 183669665 183669665 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 183669665 183669665 G A SNP ABCC5 ENST00000334444 human ensembl 70_37 -1 known nonsense c.2794 p.R932* 0.990 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ABCC6 368 genome.wustl.edu 37 16 16255325 16255325 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 16255325 16255325 G C SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.3603 p.L1201 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ABCC6 368 genome.wustl.edu 37 16 16282745 16282745 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 16282745 16282745 G C SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.1722 p.L574 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ABCC6P1 653190 genome.wustl.edu 37 16 18602481 18602481 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 18602481 18602481 G C SNP ABCC6P1 ENST00000546162 human ensembl 70_37 +1 known rna NULL NULL 0.606 - - - no_errors ABCC6P1 HGNC ABCC8 6833 genome.wustl.edu 37 11 17429944 17429944 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 17429944 17429944 C G SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known missense c.2818 p.E940Q 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ABCD4 5826 genome.wustl.edu 37 14 74756735 74756735 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 74756735 74756735 C T SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known missense c.1414 p.E472K 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC ABCF3 55324 genome.wustl.edu 37 3 183910898 183910898 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 183910898 183910898 G C SNP ABCF3 ENST00000429586 human ensembl 70_37 +1 known missense c.1759 p.E587Q 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ACADVL 37 genome.wustl.edu 37 17 7125395 7125395 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 7125395 7125395 G A SNP ACADVL ENST00000356839 human ensembl 70_37 +1 known nonsense c.747 p.W249* 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ACAN 176 genome.wustl.edu 37 15 89391202 89391202 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 89391202 89391202 C T SNP ACAN ENST00000439576 human ensembl 70_37 +1 known silent c.1665 p.V555 0.962 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ACE 1636 genome.wustl.edu 37 17 61574500 61574500 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 61574500 61574500 C T SNP ACE ENST00000290866 human ensembl 70_37 +1 known missense c.3694 p.R1232C 0.295 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ACLY 47 genome.wustl.edu 37 17 40054047 40054047 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 40054047 40054047 C T SNP ACLY ENST00000352035 human ensembl 70_37 -1 known missense c.1384 p.D462N 1.000 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ACOT12 134526 genome.wustl.edu 37 5 80626308 80626308 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 80626308 80626308 G C SNP ACOT12 ENST00000307624 human ensembl 70_37 -1 known missense c.1573 p.L525V 0.997 NULL pfam_Thioestr_supf,pfam_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT12 HGNC ACSS2 55902 genome.wustl.edu 37 20 33500927 33500927 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 33500927 33500927 C G SNP ACSS2 ENST00000360596 human ensembl 70_37 +1 known missense c.403 p.Q135E 0.988 tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig - no_errors ACSS2 HGNC ACTL10 170487 genome.wustl.edu 37 20 32256027 32256027 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 32256027 32256027 G A SNP ACTL10 ENST00000330271 human ensembl 70_37 +1 putative missense c.724 p.D242N 0.868 smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTL10 HGNC ADAM15 8751 genome.wustl.edu 37 1 155028694 155028694 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155028694 155028694 C G SNP ADAM15 ENST00000356955 human ensembl 70_37 +1 known missense c.883 p.R295G 0.993 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ADAM17 6868 genome.wustl.edu 37 2 9645420 9645420 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 9645420 9645420 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known silent c.1419 p.R473 1.000 pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ADAM17 6868 genome.wustl.edu 37 2 9645487 9645487 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 9645487 9645487 G A SNP ADAM17 ENST00000310823 human ensembl 70_37 -1 known missense c.1352 p.S451L 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ADAMTS9 56999 genome.wustl.edu 37 3 64536684 64536684 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 64536684 64536684 C G SNP ADAMTS9 ENST00000498707 human ensembl 70_37 -1 known missense c.4753 p.D1585H 0.089 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ADCY1 107 genome.wustl.edu 37 7 45662258 45662258 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 45662258 45662258 C G SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known missense c.936 p.F312L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ADCY2 108 genome.wustl.edu 37 5 7802390 7802390 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 7802390 7802390 C T SNP ADCY2 ENST00000338316 human ensembl 70_37 +1 known silent c.2688 p.F896 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ADCY3 109 genome.wustl.edu 37 2 25061765 25061765 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 25061765 25061765 C G SNP ADCY3 ENST00000405392 human ensembl 70_37 -1 novel missense c.205 p.E69Q 0.328 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ADCY7 113 genome.wustl.edu 37 16 50332831 50332831 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 50332831 50332831 G A SNP ADCY7 ENST00000254235 human ensembl 70_37 +1 known missense c.965 p.R322Q 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ADCY8 114 genome.wustl.edu 37 8 131964194 131964194 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 131964194 131964194 G A SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known silent c.1161 p.I387 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ADD3 120 genome.wustl.edu 37 10 111892229 111892229 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 111892229 111892229 C T SNP ADD3 ENST00000479805 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ADD3 HGNC ADH4 127 genome.wustl.edu 37 4 100047767 100047767 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 100047767 100047767 C G SNP ADH4 ENST00000423445 human ensembl 70_37 -1 known missense c.1153 p.D385H 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ADH4 HGNC ADNP2 22850 genome.wustl.edu 37 18 77895867 77895867 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 77895867 77895867 G A SNP ADNP2 ENST00000262198 human ensembl 70_37 +1 known silent c.2571 p.V857 0.266 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ADRA2A 150 genome.wustl.edu 37 10 112838144 112838144 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 112838144 112838144 C G SNP ADRA2A ENST00000280155 human ensembl 70_37 +1 known silent c.390 p.L130 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,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_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt - no_errors ADRA2A HGNC ADRA2A 150 genome.wustl.edu 37 10 112839032 112839032 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 112839032 112839032 C T SNP ADRA2A ENST00000280155 human ensembl 70_37 +1 known silent c.1278 p.F426 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Musac_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt,prints_Musac_rcpt - no_errors ADRA2A HGNC ADRBK1 156 genome.wustl.edu 37 11 67044812 67044812 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 67044812 67044812 G A SNP ADRBK1 ENST00000308595 human ensembl 70_37 +1 known silent c.183 p.Q61 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal 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 ADRBK1 HGNC ADRM1 11047 genome.wustl.edu 37 20 60881738 60881738 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 60881738 60881738 G A SNP ADRM1 ENST00000253003 human ensembl 70_37 +1 known missense c.489 p.M163I 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC AFF1 4299 genome.wustl.edu 37 4 88047478 88047478 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 88047478 88047478 C T SNP AFF1 ENST00000395146 human ensembl 70_37 +1 known missense c.2801 p.S934L 0.002 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC AGAP2 116986 genome.wustl.edu 37 12 58121321 58121321 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 58121321 58121321 C G SNP AGAP2 ENST00000547588 human ensembl 70_37 -1 known missense c.2902 p.E968Q 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC AGTPBP1 23287 genome.wustl.edu 37 9 88203305 88203305 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 88203305 88203305 G C SNP AGTPBP1 ENST00000376109 human ensembl 70_37 -1 known silent c.2847 p.L949 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247024261 247024261 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 247024261 247024261 C G SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.4099 p.D1367H 0.379 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247063499 247063499 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 247063499 247063499 C G SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.1327 p.E443Q 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105410048 105410048 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 105410048 105410048 C G SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known missense c.11740 p.D3914H 0.639 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AIFM3 150209 genome.wustl.edu 37 22 21333933 21333933 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 21333933 21333933 G A SNP AIFM3 ENST00000399167 human ensembl 70_37 +1 known missense c.1594 p.D532N 1.000 superfamily_FAD/NAD-linked_Rdtase_dimer pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors AIFM3 HGNC AIM1 202 genome.wustl.edu 37 6 106960255 106960255 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 106960255 106960255 G T SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known silent c.39 p.R13 1.000 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC AKAP6 9472 genome.wustl.edu 37 14 33015502 33015502 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 33015502 33015502 C G SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.1643 p.S548C 0.998 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC AKAP8 10270 genome.wustl.edu 37 19 15465808 15465808 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 15465808 15465808 C G SNP AKAP8 ENST00000269701 human ensembl 70_37 -1 known missense c.1997 p.R666T 0.000 NULL pfam_AKAP95 - no_errors AKAP8 HGNC AKNA 80709 genome.wustl.edu 37 9 117104310 117104310 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 117104310 117104310 C T SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.3853 p.G1285S 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC AKT2 208 genome.wustl.edu 37 19 40771139 40771139 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 40771139 40771139 G A SNP AKT2 ENST00000392038 human ensembl 70_37 -1 known silent c.36 p.L12 0.911 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT2 HGNC AKT3 10000 genome.wustl.edu 37 1 243708851 243708851 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 243708851 243708851 G C SNP AKT3 ENST00000263826 human ensembl 70_37 -1 known missense c.1212 p.F404L 1.000 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 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT3 HGNC ALDH1A2 8854 genome.wustl.edu 37 15 58357776 58357776 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 58357776 58357776 G C SNP ALDH1A2 ENST00000249750 human ensembl 70_37 -1 known missense c.73 p.L25V 1.000 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ALDH4A1 8659 genome.wustl.edu 37 1 19203721 19203721 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 19203721 19203721 G C SNP ALDH4A1 ENST00000290597 human ensembl 70_37 -1 known missense c.1166 p.S389C 0.999 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ALDH8A1 64577 genome.wustl.edu 37 6 135239582 135239582 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 135239582 135239582 C T SNP ALDH8A1 ENST00000265605 human ensembl 70_37 -1 known missense c.1435 p.E479K 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ALG1 56052 genome.wustl.edu 37 16 5134874 5134874 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 5134874 5134874 G A SNP ALG1 ENST00000262374 human ensembl 70_37 +1 known missense c.1387 p.D463N 0.264 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ALOX5 240 genome.wustl.edu 37 10 45924146 45924146 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 45924146 45924146 C T SNP ALOX5 ENST00000374391 human ensembl 70_37 +1 known silent c.915 p.F305 1.000 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX5 HGNC ALS2CL 259173 genome.wustl.edu 37 3 46722599 46722599 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 46722599 46722599 G C SNP ALS2CL ENST00000431015 human ensembl 70_37 -1 known silent c.1548 p.L516 0.000 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC CARF 79800 genome.wustl.edu 37 2 203826051 203826051 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 203826051 203826051 G C SNP ALS2CR8 ENST00000320443 human ensembl 70_37 +1 known missense c.734 p.W245S 1.000 NULL NULL - no_errors ALS2CR8 HGNC AMDHD1 144193 genome.wustl.edu 37 12 96354389 96354389 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 96354389 96354389 G A SNP AMDHD1 ENST00000266736 human ensembl 70_37 +1 known missense c.801 p.M267I 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC AMT 275 genome.wustl.edu 37 3 49454675 49454675 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49454675 49454675 G C SNP AMT ENST00000476226 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMT HGNC AMY2B 280 genome.wustl.edu 37 1 104114233 104114233 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 104114233 104114233 C G SNP AMY2B ENST00000361355 human ensembl 70_37 +1 known missense c.9 p.F3L 0.918 NULL pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ANAPC1 64682 genome.wustl.edu 37 2 112608391 112608391 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 112608391 112608391 G C SNP ANAPC1 ENST00000341068 human ensembl 70_37 -1 known missense c.1612 p.P538A 0.994 NULL NULL - no_errors ANAPC1 HGNC ANGEL1 23357 genome.wustl.edu 37 14 77273120 77273120 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 77273120 77273120 C G SNP ANGEL1 ENST00000251089 human ensembl 70_37 -1 known missense c.1019 p.R340T 0.971 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ANK2 287 genome.wustl.edu 37 4 114163301 114163301 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 114163301 114163301 G C SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.827 p.R276T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ANKFN1 162282 genome.wustl.edu 37 17 54526454 54526454 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 54526454 54526454 G C SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known missense c.1123 p.D375H 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ANKRD13B 124930 genome.wustl.edu 37 17 27939913 27939913 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 27939913 27939913 C T SNP ANKRD13B ENST00000394859 human ensembl 70_37 +1 known silent c.1584 p.I528 0.999 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ANKRD22 118932 genome.wustl.edu 37 10 90611348 90611348 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 90611348 90611348 G C SNP ANKRD22 ENST00000371930 human ensembl 70_37 -1 known missense c.17 p.S6C 0.995 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ANKRD26 22852 genome.wustl.edu 37 10 27301817 27301817 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 27301817 27301817 C G SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known missense c.4995 p.L1665F 0.010 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ANKRD30BL 554226 genome.wustl.edu 37 2 132911228 132911228 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 132911228 132911228 C T SNP ANKRD30BL ENST00000295181 human ensembl 70_37 -1 known silent c.654 p.E218 0.005 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ANKS1A 23294 genome.wustl.edu 37 6 34985727 34985727 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 34985727 34985727 C T SNP ANKS1A ENST00000360359 human ensembl 70_37 +1 known missense c.1901 p.S634L 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ANKS1A 23294 genome.wustl.edu 37 6 35046359 35046359 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 35046359 35046359 G A SNP ANKS1A ENST00000360359 human ensembl 70_37 +1 known missense c.2209 p.D737N 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ANPEP 290 genome.wustl.edu 37 15 90349434 90349434 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 90349434 90349434 G A SNP ANPEP ENST00000300060 human ensembl 70_37 -1 known silent c.381 p.L127 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC AP3S1 1176 genome.wustl.edu 37 5 115230837 115230837 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 115230837 115230837 G C SNP AP3S1 ENST00000316788 human ensembl 70_37 +1 known missense c.327 p.L109F 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC AP4B1 10717 genome.wustl.edu 37 1 114438788 114438788 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 114438788 114438788 C G SNP AP4B1 ENST00000479285 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AP4B1 HGNC APBB1IP 54518 genome.wustl.edu 37 10 26851194 26851194 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 26851194 26851194 G A SNP APBB1IP ENST00000493857 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors APBB1IP HGNC APLP2 334 genome.wustl.edu 37 11 129979462 129979462 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 129979462 129979462 G C SNP APLP2 ENST00000263574 human ensembl 70_37 +1 known missense c.244 p.E82Q 0.991 pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC APOA4 337 genome.wustl.edu 37 11 116692248 116692248 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 116692248 116692248 G A SNP APOA4 ENST00000357780 human ensembl 70_37 -1 known nonsense c.526 p.Q176* 0.907 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC APOB 338 genome.wustl.edu 37 2 21228336 21228336 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 21228336 21228336 G C SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.11404 p.Q3802E 0.000 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 APOB 338 genome.wustl.edu 37 2 21241867 21241867 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 21241867 21241867 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.3118 p.E1040K 1.000 pfam_Lipid_transpt_open_b-sht 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 APOBEC3B 9582 genome.wustl.edu 37 22 39381838 39381838 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 39381838 39381838 C T SNP APOBEC3B ENST00000333467 human ensembl 70_37 +1 known missense c.196 p.H66Y 0.538 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC APPL2 55198 genome.wustl.edu 37 12 105601801 105601801 + Missense_Mutation SNP T T G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 105601801 105601801 T G SNP APPL2 ENST00000551662 human ensembl 70_37 -1 known missense c.440 p.D147A 1.000 NULL pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL2 HGNC AQR 9716 genome.wustl.edu 37 15 35166070 35166070 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 35166070 35166070 G A SNP AQR ENST00000156471 human ensembl 70_37 -1 known nonsense c.3556 p.Q1186* 1.000 NULL NULL - no_errors AQR HGNC ARAP1 116985 genome.wustl.edu 37 11 72408143 72408143 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 72408143 72408143 G C SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known silent c.3051 p.L1017 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom 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 ARAP1 116985 genome.wustl.edu 37 11 72408153 72408153 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 72408153 72408153 G C SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known missense c.3041 p.S1014C 0.994 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom 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 ARFGEF2 10564 genome.wustl.edu 37 20 47649562 47649562 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 47649562 47649562 C G SNP ARFGEF2 ENST00000371917 human ensembl 70_37 +1 known missense c.5184 p.F1728L 1.000 superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ARHGAP24 83478 genome.wustl.edu 37 4 86916229 86916229 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 86916229 86916229 G A SNP ARHGAP24 ENST00000395184 human ensembl 70_37 +1 known silent c.1422 p.T474 0.526 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ARHGAP30 257106 genome.wustl.edu 37 1 161018122 161018122 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 161018122 161018122 C T SNP ARHGAP30 ENST00000368013 human ensembl 70_37 -1 known missense c.2689 p.E897K 0.324 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ARHGAP30 257106 genome.wustl.edu 37 1 161018560 161018560 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 161018560 161018560 C T SNP ARHGAP30 ENST00000368013 human ensembl 70_37 -1 known missense c.2251 p.E751K 0.003 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ARHGAP44 9912 genome.wustl.edu 37 17 12893363 12893363 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 12893363 12893363 G C SNP ARHGAP44 ENST00000379672 human ensembl 70_37 +1 known missense c.2332 p.D778H 0.977 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ARHGEF2 9181 genome.wustl.edu 37 1 155932738 155932738 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155932738 155932738 G C SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known missense c.964 p.L322V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ARHGEF2 9181 genome.wustl.edu 37 1 155934786 155934786 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155934786 155934786 G A SNP ARHGEF2 ENST00000368315 human ensembl 70_37 -1 known silent c.720 p.V240 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ARHGEF3 50650 genome.wustl.edu 37 3 56763299 56763299 + Nonstop_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 56763299 56763299 C G SNP ARHGEF3 ENST00000338458 human ensembl 70_37 -1 known nonstop c.1676 p.*559S 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ARHGEF4 50649 genome.wustl.edu 37 2 131798860 131798860 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 131798860 131798860 G A SNP ARHGEF4 ENST00000326016 human ensembl 70_37 +1 known missense c.1162 p.E388K 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ARHGEF7 8874 genome.wustl.edu 37 13 111927125 111927125 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 111927125 111927125 C T SNP ARHGEF7 ENST00000375741 human ensembl 70_37 +1 known silent c.1323 p.F441 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ARID4A 5926 genome.wustl.edu 37 14 58832749 58832749 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 58832749 58832749 C T SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known silent c.3324 p.S1108 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ARMC4 55130 genome.wustl.edu 37 10 28283895 28283895 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 28283895 28283895 C T SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known nonsense c.177 p.W59* 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ASB9 140462 genome.wustl.edu 37 X 15266972 15266972 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 15266972 15266972 G C SNP ASB9 ENST00000380488 human ensembl 70_37 -1 known silent c.654 p.L218 0.955 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB9 HGNC ASMTL 8623 genome.wustl.edu 37 X 1561059 1561059 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 1561059 1561059 G A SNP ASMTL ENST00000474865 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ASMTL HGNC ASPH 444 genome.wustl.edu 37 8 62566204 62566204 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 62566204 62566204 G C SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.338 p.S113C 0.959 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ASPN 54829 genome.wustl.edu 37 9 95219736 95219736 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95219736 95219736 C G SNP ASPN ENST00000375544 human ensembl 70_37 -1 known missense c.977 p.R326T 0.985 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ASTN1 460 genome.wustl.edu 37 1 177133810 177133810 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 177133810 177133810 C T SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.3 p.M1I 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ATG16L2 89849 genome.wustl.edu 37 11 72533173 72533173 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 72533173 72533173 G A SNP ATG16L2 ENST00000321297 human ensembl 70_37 +1 known silent c.477 p.Q159 0.151 pfam_Autophagy-rel_prot_16 pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L2 HGNC ATG2B 55102 genome.wustl.edu 37 14 96757971 96757971 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 96757971 96757971 C T SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.5545 p.E1849K 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ATP11A 23250 genome.wustl.edu 37 13 113514622 113514622 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 113514622 113514622 C G SNP ATP11A ENST00000375630 human ensembl 70_37 +1 known missense c.2749 p.L917V 1.000 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 ATP11A HGNC ATP11B 23200 genome.wustl.edu 37 3 182583386 182583386 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 182583386 182583386 G A SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known missense c.1343 p.G448E 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,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 ATP11B HGNC ATP13A1 57130 genome.wustl.edu 37 19 19758021 19758021 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 19758021 19758021 C T SNP ATP13A1 ENST00000357324 human ensembl 70_37 -1 known missense c.3022 p.E1008K 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp 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_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A1 HGNC ATP1B3 483 genome.wustl.edu 37 3 141626075 141626075 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 141626075 141626075 C T SNP ATP1B3 ENST00000286371 human ensembl 70_37 +1 known missense c.305 p.S102L 0.787 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B3 HGNC ATP2B2 491 genome.wustl.edu 37 3 10370484 10370484 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 10370484 10370484 G A SNP ATP2B2 ENST00000467702 human ensembl 70_37 -1 known rna NULL NULL 0.553 - - - no_errors ATP2B2 HGNC ATP2B2 491 genome.wustl.edu 37 3 10384497 10384497 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 10384497 10384497 C T SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known missense c.2856 p.M952I 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ATP5J 522 genome.wustl.edu 37 21 27102096 27102096 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 27102096 27102096 G A SNP ATP5J ENST00000457143 human ensembl 70_37 -1 known nonsense c.34 p.Q12* 1.000 pfam_ATPase_F0-cplx_f6su_mt pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt - no_errors ATP5J HGNC ATP5SL 55101 genome.wustl.edu 37 19 41944235 41944235 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 41944235 41944235 G A SNP ATP5SL ENST00000417807 human ensembl 70_37 -1 known nonsense c.121 p.Q41* 0.001 NULL NULL - no_errors ATP5SL HGNC ATP8A1 10396 genome.wustl.edu 37 4 42467017 42467017 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 42467017 42467017 C G SNP ATP8A1 ENST00000381668 human ensembl 70_37 -1 known missense c.2401 p.D801H 0.999 superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr 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 ATP8A1 HGNC ATRNL1 26033 genome.wustl.edu 37 10 117228797 117228797 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 117228797 117228797 C G SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known missense c.3612 p.F1204L 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC AURKA 6790 genome.wustl.edu 37 20 54945266 54945266 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 54945266 54945266 G A SNP AURKA ENST00000312783 human ensembl 70_37 -1 known missense c.1160 p.S387L 0.975 NULL 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 AURKA HGNC B2M 567 genome.wustl.edu 37 15 45007833 45007833 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 45007833 45007833 G A SNP B2M ENST00000544417 human ensembl 70_37 +1 known missense c.280 p.E94K 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like - no_errors B2M HGNC B3GALTL 145173 genome.wustl.edu 37 13 31858829 31858829 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 31858829 31858829 G A SNP B3GALTL ENST00000343307 human ensembl 70_37 +1 known missense c.895 p.E299K 0.989 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC B4GALT3 8703 genome.wustl.edu 37 1 161142095 161142095 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 161142095 161142095 G A SNP B4GALT3 ENST00000319769 human ensembl 70_37 -1 known missense c.830 p.S277F 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT3 HGNC BAZ1B 9031 genome.wustl.edu 37 7 72892242 72892242 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 72892242 72892242 C G SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.1549 p.E517Q 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC BAZ2A 11176 genome.wustl.edu 37 12 56994157 56994157 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56994157 56994157 G A SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known nonsense c.4726 p.Q1576* 0.997 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC BAZ2A 11176 genome.wustl.edu 37 12 56995142 56995142 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56995142 56995142 G C SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known missense c.4122 p.F1374L 0.979 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC BAZ2A 11176 genome.wustl.edu 37 12 56995491 56995491 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56995491 56995491 C A SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known nonsense c.3916 p.E1306* 0.998 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC BAZ2B 29994 genome.wustl.edu 37 2 160193581 160193581 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 160193581 160193581 C G SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.5668 p.E1890Q 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC BCAN 63827 genome.wustl.edu 37 1 156622655 156622655 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 156622655 156622655 G T SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.1913 p.R638L 0.039 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC BCAP29 55973 genome.wustl.edu 37 7 107240940 107240940 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 107240940 107240940 G C SNP BCAP29 ENST00000379119 human ensembl 70_37 +1 known missense c.579 p.K193N 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC BCL9 607 genome.wustl.edu 37 1 147090719 147090719 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 147090719 147090719 G C SNP BCL9 ENST00000234739 human ensembl 70_37 +1 known missense c.758 p.R253T 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC BCL9L 283149 genome.wustl.edu 37 11 118772426 118772426 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 118772426 118772426 C T SNP BCL9L ENST00000334801 human ensembl 70_37 -1 known missense c.2026 p.E676K 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC BCOR 54880 genome.wustl.edu 37 X 39932327 39932327 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 39932327 39932327 G T SNP BCOR ENST00000378444 human ensembl 70_37 -1 known missense c.2272 p.P758T 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BCR 613 genome.wustl.edu 37 22 23603578 23603578 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 23603578 23603578 C T SNP BCR ENST00000305877 human ensembl 70_37 +1 known nonsense c.1603 p.Q535* 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC BDP1 55814 genome.wustl.edu 37 5 70837407 70837407 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 70837407 70837407 C G SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.6149 p.S2050C 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC BEGAIN 57596 genome.wustl.edu 37 14 101005433 101005433 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 101005433 101005433 G A SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known missense c.655 p.R219W 0.229 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC BEND4 389206 genome.wustl.edu 37 4 42145723 42145723 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 42145723 42145723 G A SNP BEND4 ENST00000502486 human ensembl 70_37 -1 known missense c.776 p.S259L 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC BHLHE40 8553 genome.wustl.edu 37 3 5025226 5025226 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 5025226 5025226 C G SNP BHLHE40 ENST00000256495 human ensembl 70_37 +1 known missense c.1088 p.S363C 0.124 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors BHLHE40 HGNC BHLHE40 8553 genome.wustl.edu 37 3 5025281 5025281 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 5025281 5025281 C T SNP BHLHE40 ENST00000256495 human ensembl 70_37 +1 known silent c.1143 p.L381 1.000 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors BHLHE40 HGNC BICD2 23299 genome.wustl.edu 37 9 95481579 95481579 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95481579 95481579 G A SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.1348 p.R450C 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC BICD2 23299 genome.wustl.edu 37 9 95484983 95484983 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95484983 95484983 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known silent c.561 p.E187 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC BICD2 23299 genome.wustl.edu 37 9 95484988 95484988 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95484988 95484988 C T SNP BICD2 ENST00000356884 human ensembl 70_37 -1 known missense c.556 p.E186K 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC BIK 638 genome.wustl.edu 37 22 43525228 43525228 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 43525228 43525228 G A SNP BIK ENST00000216115 human ensembl 70_37 +1 known missense c.400 p.E134K 0.000 pfam_Bcl2-int_killer pfam_Bcl2-int_killer - no_errors BIK HGNC BLM 641 genome.wustl.edu 37 15 91304065 91304065 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 91304065 91304065 G C SNP BLM ENST00000355112 human ensembl 70_37 +1 known missense c.1462 p.E488Q 0.947 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC BMI1 648 genome.wustl.edu 37 10 22618232 22618232 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 22618232 22618232 G A SNP BMI1 ENST00000376663 human ensembl 70_37 +1 known missense c.742 p.E248K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC BMPER 168667 genome.wustl.edu 37 7 33946488 33946488 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 33946488 33946488 C T SNP BMPER ENST00000297161 human ensembl 70_37 +1 known silent c.192 p.D64 1.000 smart_VWF_C pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC BMPR1B 658 genome.wustl.edu 37 4 96070069 96070069 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 96070069 96070069 C G SNP BMPR1B ENST00000440890 human ensembl 70_37 +1 known nonsense c.1337 p.S446* 0.996 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,pfam_Activin_rcpt,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 BMPR1B HGNC BOD1L1 259282 genome.wustl.edu 37 4 13606335 13606335 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 13606335 13606335 C G SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known missense c.2189 p.R730T 1.000 NULL NULL - no_errors BOD1L1 HGNC BOD1L1 259282 genome.wustl.edu 37 4 13606553 13606553 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 13606553 13606553 C T SNP BOD1L1 ENST00000040738 human ensembl 70_37 -1 known silent c.1971 p.R657 0.962 NULL NULL - no_errors BOD1L1 HGNC BORA 79866 genome.wustl.edu 37 13 73318687 73318687 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 73318687 73318687 G C SNP BORA ENST00000390667 human ensembl 70_37 +1 known missense c.499 p.E167Q 1.000 prints_Aurora_borealis_protien prints_Aurora_borealis_protien - no_errors BORA HGNC BRAP 8315 genome.wustl.edu 37 12 112119640 112119640 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 112119640 112119640 C G SNP BRAP ENST00000419234 human ensembl 70_37 -1 known splice_site c.245-1 e3-1 1.000 - - - no_errors BRAP HGNC BRCA1 672 genome.wustl.edu 37 17 41226417 41226417 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 41226417 41226417 C T SNP BRCA1 ENST00000471181 human ensembl 70_37 -1 known missense c.4669 p.E1557K 0.000 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC BRCC3 79184 genome.wustl.edu 37 X 154305476 154305476 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 154305476 154305476 C T SNP BRCC3 ENST00000399042 human ensembl 70_37 +1 known missense c.227 p.S76F 0.999 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors BRCC3 HGNC BRPF1 7862 genome.wustl.edu 37 3 9781517 9781517 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 9781517 9781517 G T SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.1434 p.W478C 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC BRPF1 7862 genome.wustl.edu 37 3 9784724 9784724 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 9784724 9784724 G A SNP BRPF1 ENST00000383829 human ensembl 70_37 +1 known missense c.2098 p.E700K 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC BRPF3 27154 genome.wustl.edu 37 6 36168470 36168470 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 36168470 36168470 C G SNP BRPF3 ENST00000357641 human ensembl 70_37 +1 known nonsense c.371 p.S124* 0.269 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC BRWD1 54014 genome.wustl.edu 37 21 40667817 40667817 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 40667817 40667817 C G SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known missense c.461 p.R154P 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC BSN 8927 genome.wustl.edu 37 3 49694913 49694913 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49694913 49694913 G A SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.7924 p.D2642N 0.981 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC BTAF1 9044 genome.wustl.edu 37 10 93749226 93749226 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 93749226 93749226 C G SNP BTAF1 ENST00000265990 human ensembl 70_37 +1 known missense c.2743 p.P915A 1.000 pfam_DUF3535,superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC BTN3A3 10384 genome.wustl.edu 37 6 26444366 26444366 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26444366 26444366 G A SNP BTN3A3 ENST00000244519 human ensembl 70_37 +1 known silent c.267 p.Q89 0.274 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN3A3 HGNC BZW2 28969 genome.wustl.edu 37 7 16720997 16720997 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 16720997 16720997 G A SNP BZW2 ENST00000258761 human ensembl 70_37 +1 known missense c.307 p.E103K 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW2 HGNC C10orf68 79741 genome.wustl.edu 37 10 33137547 33137547 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 33137547 33137547 G C SNP C10orf68 ENST00000375025 human ensembl 70_37 +1 known missense c.1717 p.D573H 0.000 NULL NULL - no_errors C10orf68 HGNC C12orf40 283461 genome.wustl.edu 37 12 40040240 40040240 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 40040240 40040240 C G SNP C12orf40 ENST00000324616 human ensembl 70_37 +1 known silent c.312 p.L104 0.613 NULL NULL - no_errors C12orf40 HGNC C12orf43 64897 genome.wustl.edu 37 12 121454196 121454196 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 121454196 121454196 C G SNP C12orf43 ENST00000288757 human ensembl 70_37 -1 known missense c.82 p.E28Q 0.999 NULL NULL - no_errors C12orf43 HGNC C12orf55 144535 genome.wustl.edu 37 12 97150283 97150283 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 97150283 97150283 C T SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known nonsense c.3163 p.Q1055* 0.000 NULL NULL - no_errors C12orf55 HGNC C12orf61 283416 genome.wustl.edu 37 12 62996860 62996860 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 62996860 62996860 C T SNP C12orf61 ENST00000408887 human ensembl 70_37 -1 known missense c.259 p.E87K 0.000 NULL NULL - no_errors C12orf61 HGNC C12orf76 400073 genome.wustl.edu 37 12 110488822 110488822 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 110488822 110488822 C A SNP C12orf76 ENST00000548191 human ensembl 70_37 -1 putative missense c.289 p.D97Y 0.717 pfam_P2X_purnocptor pfam_P2X_purnocptor - no_errors C12orf76 HGNC C14orf105 55195 genome.wustl.edu 37 14 57938127 57938127 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 57938127 57938127 C T SNP C14orf105 ENST00000216445 human ensembl 70_37 -1 known silent c.837 p.V279 1.000 NULL NULL - no_errors C14orf105 HGNC C14orf159 80017 genome.wustl.edu 37 14 91681877 91681877 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 91681877 91681877 C G SNP C14orf159 ENST00000256324 human ensembl 70_37 +1 known missense c.1693 p.Q565E 0.008 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC SPATA33 124045 genome.wustl.edu 37 16 89724711 89724711 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 89724711 89724711 G A SNP C16orf55 ENST00000579310 human ensembl 70_37 +1 known silent c.93 p.L31 0.000 NULL NULL - no_errors C16orf55 HGNC C16orf78 123970 genome.wustl.edu 37 16 49433132 49433132 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 49433132 49433132 C G SNP C16orf78 ENST00000299191 human ensembl 70_37 +1 known silent c.741 p.V247 0.000 NULL NULL - no_errors C16orf78 HGNC C17orf66 256957 genome.wustl.edu 37 17 34185207 34185207 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 34185207 34185207 G C SNP C17orf66 ENST00000311880 human ensembl 70_37 -1 known missense c.1149 p.F383L 0.472 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C17orf66 HGNC C17orf75 64149 genome.wustl.edu 37 17 30669148 30669148 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 30669148 30669148 G C SNP C17orf75 ENST00000225805 human ensembl 70_37 -1 known missense c.11 p.S4C 0.944 NULL NULL - no_errors C17orf75 HGNC C17orf82 388407 genome.wustl.edu 37 17 59489402 59489402 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 59489402 59489402 C G SNP C17orf82 ENST00000335108 human ensembl 70_37 +1 known silent c.66 p.L22 0.003 NULL NULL - no_errors C17orf82 HGNC C18orf8 29919 genome.wustl.edu 37 18 21111732 21111732 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 21111732 21111732 C G SNP C18orf8 ENST00000591367 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors C18orf8 HGNC C19orf55 148137 genome.wustl.edu 37 19 36258752 36258752 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36258752 36258752 G A SNP C19orf55 ENST00000396908 human ensembl 70_37 +1 known silent c.1005 p.V335 0.000 NULL NULL - no_errors C19orf55 HGNC C1orf101 257044 genome.wustl.edu 37 1 244735747 244735747 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 244735747 244735747 C T SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known silent c.1623 p.F541 0.000 NULL NULL - no_errors C1orf101 HGNC C1orf112 55732 genome.wustl.edu 37 1 169792605 169792605 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 169792605 169792605 G C SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.840 p.Q280H 1.000 NULL NULL - no_errors C1orf112 HGNC C1orf177 163747 genome.wustl.edu 37 1 55277499 55277499 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 55277499 55277499 G A SNP C1orf177 ENST00000371273 human ensembl 70_37 +1 known silent c.513 p.E171 0.951 NULL NULL - no_errors C1orf177 HGNC C1orf226 400793 genome.wustl.edu 37 1 162353431 162353431 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 162353431 162353431 C G SNP C1orf226 ENST00000426197 human ensembl 70_37 +1 known silent c.906 p.L302 0.033 NULL NULL - no_errors C1orf226 HGNC C2CD3 26005 genome.wustl.edu 37 11 73785637 73785637 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 73785637 73785637 G C SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.4612 p.P1538A 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC C2orf49 79074 genome.wustl.edu 37 2 105954032 105954032 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 105954032 105954032 C G SNP C2orf49 ENST00000437250 human ensembl 70_37 +1 known silent c.102 p.L34 1.000 NULL NULL - no_errors C2orf49 HGNC C2orf53 339779 genome.wustl.edu 37 2 27361043 27361043 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 27361043 27361043 G C SNP C2orf53 ENST00000335524 human ensembl 70_37 -1 known missense c.155 p.S52C 0.003 NULL NULL - no_errors C2orf53 HGNC C3orf30 152405 genome.wustl.edu 37 3 118865512 118865512 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 118865512 118865512 C A SNP C3orf30 ENST00000295622 human ensembl 70_37 +1 known missense c.476 p.S159Y 0.022 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC C4orf21 55345 genome.wustl.edu 37 4 113482022 113482022 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 113482022 113482022 C T SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.4827 p.L1609 0.044 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C6orf211 79624 genome.wustl.edu 37 6 151789691 151789691 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 151789691 151789691 G C SNP C6orf211 ENST00000367294 human ensembl 70_37 +1 known missense c.772 p.E258Q 1.000 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC C9orf131 138724 genome.wustl.edu 37 9 35043372 35043372 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 35043372 35043372 C T SNP C9orf131 ENST00000312292 human ensembl 70_37 +1 known missense c.746 p.S249L 0.001 NULL NULL - no_errors C9orf131 HGNC C9orf139 401563 genome.wustl.edu 37 9 139929366 139929366 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139929366 139929366 G C SNP C9orf139 ENST00000314330 human ensembl 70_37 +1 known missense c.433 p.E145Q 0.000 NULL NULL - no_errors C9orf139 HGNC C9orf3 84909 genome.wustl.edu 37 9 97741653 97741653 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 97741653 97741653 G C SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.1921 p.E641Q 0.010 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC C9orf66 157983 genome.wustl.edu 37 9 214587 214587 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 214587 214587 C G SNP C9orf66 ENST00000382387 human ensembl 70_37 -1 known silent c.810 p.A270 0.000 NULL NULL - no_errors C9orf66 HGNC CA10 56934 genome.wustl.edu 37 17 49710951 49710951 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 49710951 49710951 C T SNP CA10 ENST00000340813 human ensembl 70_37 -1 known missense c.868 p.D290N 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC CA14 23632 genome.wustl.edu 37 1 150234978 150234978 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 150234978 150234978 G C SNP CA14 ENST00000369111 human ensembl 70_37 +1 known missense c.454 p.E152Q 0.001 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC CACNA1C 775 genome.wustl.edu 37 12 2613650 2613650 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 2613650 2613650 C A SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.1162 p.L388M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACNA1C 775 genome.wustl.edu 37 12 2690928 2690928 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 2690928 2690928 G C SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known missense c.2068 p.D690H 1.000 pfam_Ion_trans_dom,prints_VDCCAlpha1,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACNA1C 775 genome.wustl.edu 37 12 2719826 2719826 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 2719826 2719826 C T SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known silent c.3678 p.F1226 0.994 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACNA1G 8913 genome.wustl.edu 37 17 48694863 48694863 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 48694863 48694863 G C SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known missense c.5086 p.E1696Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC CACNA1I 8911 genome.wustl.edu 37 22 40043865 40043865 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 40043865 40043865 C T SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.1501 p.L501F 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC CACNA2D1 781 genome.wustl.edu 37 7 81624244 81624244 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 81624244 81624244 C G SNP CACNA2D1 ENST00000356253 human ensembl 70_37 -1 known missense c.1731 p.K577N 1.000 pfam_VDCC_a2/dsu pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC CAGE1 285782 genome.wustl.edu 37 6 7373584 7373584 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 7373584 7373584 C T SNP CAGE1 ENST00000338150 human ensembl 70_37 -1 known missense c.1468 p.E490K 1.000 NULL NULL - no_errors CAGE1 HGNC CALD1 800 genome.wustl.edu 37 7 134618280 134618280 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 134618280 134618280 C A SNP CALD1 ENST00000361675 human ensembl 70_37 +1 novel missense c.760 p.H254N 0.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC CALM3 808 genome.wustl.edu 37 19 47109107 47109107 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 47109107 47109107 G C SNP CALM3 ENST00000291295 human ensembl 70_37 +1 known missense c.27 p.Q9H 1.000 pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,pfam_EF-hand_Ca_insen,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors CALM3 HGNC CAMK2B 816 genome.wustl.edu 37 7 44268527 44268527 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 44268527 44268527 G C SNP CAMK2B ENST00000489429 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CAMK2B HGNC CAMLG 819 genome.wustl.edu 37 5 134086562 134086562 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134086562 134086562 C T SNP CAMLG ENST00000297156 human ensembl 70_37 +1 known silent c.813 p.F271 1.000 pirsf_Ca_signal-mod_cyclophilin_lig pirsf_Ca_signal-mod_cyclophilin_lig - no_errors CAMLG HGNC CAPN3 825 genome.wustl.edu 37 15 42680062 42680062 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 42680062 42680062 C G SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known missense c.610 p.L204V 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease 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 CAPN6 827 genome.wustl.edu 37 X 110497608 110497608 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 110497608 110497608 C T SNP CAPN6 ENST00000324068 human ensembl 70_37 -1 known silent c.189 p.L63 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC CASKIN1 57524 genome.wustl.edu 37 16 2236729 2236729 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 2236729 2236729 C T SNP CASKIN1 ENST00000343516 human ensembl 70_37 -1 known missense c.1027 p.E343K 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain - no_errors CASKIN1 HGNC CAT 847 genome.wustl.edu 37 11 34472557 34472557 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 34472557 34472557 C T SNP CAT ENST00000241052 human ensembl 70_37 +1 known silent c.261 p.V87 0.989 pfam_Catalase_core,superfamily_Catalase-like_dom pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC CBWD5 220869 genome.wustl.edu 37 9 70490008 70490008 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 70490008 70490008 C G SNP CBWD5 ENST00000382405 human ensembl 70_37 -1 known missense c.61 p.E21Q 0.998 NULL pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD5 HGNC CBX3 11335 genome.wustl.edu 37 7 26242451 26242451 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 26242451 26242451 G C SNP CBX3 ENST00000497498 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CBX3 HGNC CCAR1 55749 genome.wustl.edu 37 10 70532748 70532748 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 70532748 70532748 G C SNP CCAR1 ENST00000265872 human ensembl 70_37 +1 known missense c.2542 p.E848Q 1.000 NULL pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC CCBL2 56267 genome.wustl.edu 37 1 89408752 89408752 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 89408752 89408752 G A SNP CCBL2 ENST00000260508 human ensembl 70_37 -1 known missense c.1238 p.S413L 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CCBL2 HGNC CCDC108 255101 genome.wustl.edu 37 2 219868909 219868909 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 219868909 219868909 C G SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.5320 p.E1774Q 0.125 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC CCDC125 202243 genome.wustl.edu 37 5 68595899 68595899 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 68595899 68595899 C G SNP CCDC125 ENST00000396496 human ensembl 70_37 -1 known missense c.756 p.K252N 1.000 NULL NULL - no_errors CCDC125 HGNC CCDC15 80071 genome.wustl.edu 37 11 124845006 124845006 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 124845006 124845006 G A SNP CCDC15 ENST00000344762 human ensembl 70_37 +1 known missense c.531 p.M177I 1.000 NULL NULL - no_errors CCDC15 HGNC CCDC150 284992 genome.wustl.edu 37 2 197504478 197504478 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 197504478 197504478 C G SNP CCDC150 ENST00000498512 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC150 HGNC DRC1 92749 genome.wustl.edu 37 2 26667594 26667594 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 26667594 26667594 C G SNP CCDC164 ENST00000288710 human ensembl 70_37 +1 known missense c.1174 p.L392V 0.000 NULL NULL - no_errors CCDC164 HGNC CCDC37 348807 genome.wustl.edu 37 3 126137952 126137952 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 126137952 126137952 G A SNP CCDC37 ENST00000393425 human ensembl 70_37 +1 known silent c.687 p.K229 0.996 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC CCDC77 84318 genome.wustl.edu 37 12 550094 550094 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 550094 550094 G C SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known missense c.1252 p.E418Q 1.000 NULL NULL - no_errors CCDC77 HGNC CCDC88C 440193 genome.wustl.edu 37 14 91850871 91850871 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 91850871 91850871 C G SNP CCDC88C ENST00000554165 human ensembl 70_37 -1 putative rna NULL NULL 0.998 - - - no_errors CCDC88C HGNC MCUR1 63933 genome.wustl.edu 37 6 13807193 13807193 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 13807193 13807193 C T SNP CCDC90A ENST00000379170 human ensembl 70_37 -1 known missense c.499 p.D167N 1.000 pfam_DUF1640 pfam_DUF1640 - no_errors CCDC90A HGNC CCNB3 85417 genome.wustl.edu 37 X 50028215 50028215 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 50028215 50028215 C G SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known missense c.52 p.Q18E 0.001 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC CCNB3 85417 genome.wustl.edu 37 X 50052681 50052681 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 50052681 50052681 G C SNP CCNB3 ENST00000276014 human ensembl 70_37 +1 known missense c.1512 p.L504F 0.009 NULL pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC CCNL1 57018 genome.wustl.edu 37 3 156870834 156870834 + Silent SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 156870834 156870834 A G SNP CCNL1 ENST00000295926 human ensembl 70_37 -1 known silent c.600 p.H200 0.999 superfamily_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC CCNL1 57018 genome.wustl.edu 37 3 156877263 156877263 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 156877263 156877263 C G SNP CCNL1 ENST00000295926 human ensembl 70_37 -1 known silent c.309 p.A103 0.999 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC CCPG1 9236 genome.wustl.edu 37 15 55664134 55664134 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 55664134 55664134 G A SNP CCPG1 ENST00000310958 human ensembl 70_37 -1 known missense c.563 p.S188L 0.912 NULL NULL - no_errors CCPG1 HGNC CCT2 10576 genome.wustl.edu 37 12 69987309 69987309 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 69987309 69987309 C T SNP CCT2 ENST00000299300 human ensembl 70_37 +1 known missense c.898 p.P300S 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC CCT6B 10693 genome.wustl.edu 37 17 33266229 33266229 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 33266229 33266229 G A SNP CCT6B ENST00000314144 human ensembl 70_37 -1 known missense c.1186 p.R396C 0.998 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC CCT7 10574 genome.wustl.edu 37 2 73479988 73479988 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 73479988 73479988 G A SNP CCT7 ENST00000258091 human ensembl 70_37 +1 known silent c.1631 p.*544 1.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC CD160 11126 genome.wustl.edu 37 1 145698917 145698917 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 145698917 145698917 C T SNP CD160 ENST00000369290 human ensembl 70_37 -1 known missense c.247 p.E83K 0.000 NULL NULL - no_errors CD160 HGNC CD163 9332 genome.wustl.edu 37 12 7633798 7633798 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 7633798 7633798 G A SNP CD163 ENST00000359156 human ensembl 70_37 -1 known missense c.3302 p.S1101F 0.984 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163 HGNC CD200R1 131450 genome.wustl.edu 37 3 112642643 112642643 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 112642643 112642643 C T SNP CD200R1 ENST00000308611 human ensembl 70_37 -1 known missense c.928 p.E310K 1.000 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1 HGNC CD226 10666 genome.wustl.edu 37 18 67614259 67614259 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 67614259 67614259 C G SNP CD226 ENST00000280200 human ensembl 70_37 -1 known missense c.93 p.E31D 0.985 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD226 HGNC CD320 51293 genome.wustl.edu 37 19 8373047 8373047 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 8373047 8373047 G A SNP CD320 ENST00000301458 human ensembl 70_37 -1 known missense c.128 p.S43F 0.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors CD320 HGNC CD99 4267 genome.wustl.edu 37 X 2637439 2637440 + RNA INS - - C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 2637439 2637440 - C INS CD99 ENST00000497752 human ensembl 70_37 +1 known rna NULL NULL 0.004:0.004 - - - no_errors CD99 HGNC CDC42BPG 55561 genome.wustl.edu 37 11 64609203 64609203 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 64609203 64609203 G A SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known silent c.255 p.V85 0.164 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC CDC73 79577 genome.wustl.edu 37 1 193121523 193121523 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 193121523 193121523 C G SNP CDC73 ENST00000367435 human ensembl 70_37 +1 known missense c.921 p.F307L 1.000 pfam_RNA_pol_access_fac_Cdc73 pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC CDCP1 64866 genome.wustl.edu 37 3 45152247 45152247 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 45152247 45152247 C T SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known missense c.742 p.E248K 1.000 superfamily_CUB superfamily_CUB - no_errors CDCP1 HGNC CDH2 1000 genome.wustl.edu 37 18 25583081 25583081 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 25583081 25583081 G T SNP CDH2 ENST00000269141 human ensembl 70_37 -1 known silent c.900 p.L300 0.014 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin - no_errors CDH2 HGNC CDHR3 222256 genome.wustl.edu 37 7 105621546 105621546 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 105621546 105621546 G A SNP CDHR3 ENST00000317716 human ensembl 70_37 +1 known missense c.382 p.E128K 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC CDHR3 222256 genome.wustl.edu 37 7 105635288 105635288 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 105635288 105635288 G C SNP CDHR3 ENST00000317716 human ensembl 70_37 +1 known missense c.605 p.R202T 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC CDHR3 222256 genome.wustl.edu 37 7 105662778 105662778 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 105662778 105662778 G A SNP CDHR3 ENST00000317716 human ensembl 70_37 +1 known missense c.1960 p.D654N 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC CDK13 8621 genome.wustl.edu 37 7 40134371 40134371 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 40134371 40134371 C T SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.4331 p.S1444F 0.987 NULL 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 CDK13 HGNC CDK14 5218 genome.wustl.edu 37 7 90419921 90419921 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 90419921 90419921 C T SNP CDK14 ENST00000431029 human ensembl 70_37 +1 known nonsense c.265 p.Q89* 0.984 NULL NULL - no_errors CDK14 HGNC CDK3 1018 genome.wustl.edu 37 17 74001454 74001454 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74001454 74001454 G C SNP CDK3 ENST00000425876 human ensembl 70_37 +1 known missense c.868 p.E290Q 0.002 superfamily_Kinase-like_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 CDK3 HGNC CDK5RAP3 80279 genome.wustl.edu 37 17 46052532 46052532 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46052532 46052532 C G SNP CDK5RAP3 ENST00000338399 human ensembl 70_37 +1 known silent c.342 p.L114 1.000 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC CDK5RAP3 80279 genome.wustl.edu 37 17 46052645 46052645 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46052645 46052645 C A SNP CDK5RAP3 ENST00000338399 human ensembl 70_37 +1 known missense c.455 p.A152E 0.985 pfam_DUF773 pfam_DUF773 - no_errors CDK5RAP3 HGNC CDK8 1024 genome.wustl.edu 37 13 26959424 26959424 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 26959424 26959424 C T SNP CDK8 ENST00000381527 human ensembl 70_37 +1 known silent c.591 p.F197 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK8 HGNC CEBPA 1050 genome.wustl.edu 37 19 33792481 33792481 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 33792481 33792481 C G SNP CEBPA ENST00000498907 human ensembl 70_37 -1 known missense c.840 p.K280N 1.000 smart_bZIP,pirsf_CCAAT/enhancer-binding pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPA HGNC CECR2 27443 genome.wustl.edu 37 22 18021987 18021987 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 18021987 18021987 C G SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2089 p.Q697E 0.894 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CELSR2 1952 genome.wustl.edu 37 1 109792735 109792736 + In_Frame_Ins INS - - CGC TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 109792735 109792736 - CGC INS CELSR2 ENST00000271332 human ensembl 70_37 +1 known in_frame_ins c.34_35 p.16in_frame_insP 0.060:0.468 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CELSR2 1952 genome.wustl.edu 37 1 109814995 109814995 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 109814995 109814995 G C SNP CELSR2 ENST00000271332 human ensembl 70_37 +1 known missense c.8022 p.K2674N 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC CELSR3 1951 genome.wustl.edu 37 3 48699501 48699501 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 48699501 48699501 C T SNP CELSR3 ENST00000544264 human ensembl 70_37 -1 known silent c.567 p.R189 0.001 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC CEP104 9731 genome.wustl.edu 37 1 3745850 3745850 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 3745850 3745850 C G SNP CEP104 ENST00000378230 human ensembl 70_37 -1 known missense c.2131 p.E711Q 0.891 NULL superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC CEP120 153241 genome.wustl.edu 37 5 122734955 122734955 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 122734955 122734955 C G SNP CEP120 ENST00000306467 human ensembl 70_37 -1 known missense c.487 p.D163H 1.000 NULL pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP120 HGNC CEP152 22995 genome.wustl.edu 37 15 49048135 49048135 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 49048135 49048135 G A SNP CEP152 ENST00000380950 human ensembl 70_37 -1 known silent c.3310 p.L1104 0.000 NULL NULL - no_errors CEP152 HGNC CEP85 64793 genome.wustl.edu 37 1 26603650 26603650 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 26603650 26603650 G C SNP CEP85 ENST00000252992 human ensembl 70_37 +1 known missense c.2155 p.D719H 0.999 NULL NULL - no_errors CEP85 HGNC CEP89 84902 genome.wustl.edu 37 19 33444634 33444634 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 33444634 33444634 C G SNP CEP89 ENST00000305768 human ensembl 70_37 -1 known missense c.379 p.E127Q 0.994 NULL NULL - no_errors CEP89 HGNC CEP97 79598 genome.wustl.edu 37 3 101447778 101447778 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 101447778 101447778 G A SNP CEP97 ENST00000327230 human ensembl 70_37 +1 known silent c.444 p.L148 0.975 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC CFTR 1080 genome.wustl.edu 37 7 117232505 117232505 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 117232505 117232505 C T SNP CFTR ENST00000003084 human ensembl 70_37 +1 known nonsense c.2284 p.Q762* 0.071 tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC CHD5 26038 genome.wustl.edu 37 1 6214952 6214952 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 6214952 6214952 G C SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known silent c.513 p.L171 0.997 pfam_CHD_N,superfamily_HMG_superfamily pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC CHD6 84181 genome.wustl.edu 37 20 40033628 40033628 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 40033628 40033628 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known missense c.7753 p.E2585K 0.991 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHD7 55636 genome.wustl.edu 37 8 61765259 61765259 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 61765259 61765259 G C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known missense c.6097 p.D2033H 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC CHD8 57680 genome.wustl.edu 37 14 21870148 21870148 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 21870148 21870148 C T SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.4030 p.E1344K 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC CHD8 57680 genome.wustl.edu 37 14 21870187 21870187 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 21870187 21870187 C G SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.3991 p.D1331H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC CHGA 1113 genome.wustl.edu 37 14 93396082 93396082 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 93396082 93396082 C T SNP CHGA ENST00000216492 human ensembl 70_37 +1 known nonsense c.277 p.Q93* 0.992 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC CHKB 1120 genome.wustl.edu 37 22 51020270 51020270 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 51020270 51020270 C G SNP CHKB ENST00000406938 human ensembl 70_37 -1 known missense c.355 p.E119Q 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC CHRNB2 1141 genome.wustl.edu 37 1 154543731 154543731 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 154543731 154543731 C T SNP CHRNB2 ENST00000368476 human ensembl 70_37 +1 known silent c.432 p.F144 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC CHRNE 1145 genome.wustl.edu 37 17 4805969 4805969 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 4805969 4805969 C G SNP CHRNE ENST00000293780 human ensembl 70_37 -1 known missense c.136 p.E46Q 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd 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 - no_errors CHRNE HGNC CHST14 113189 genome.wustl.edu 37 15 40764159 40764159 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 40764159 40764159 G A SNP CHST14 ENST00000306243 human ensembl 70_37 +1 known silent c.747 p.A249 0.002 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST14 HGNC CHST4 10164 genome.wustl.edu 37 16 71570649 71570649 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 71570649 71570649 C G SNP CHST4 ENST00000338482 human ensembl 70_37 +1 known missense c.69 p.F23L 0.000 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC CHST5 23563 genome.wustl.edu 37 16 75563112 75563112 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 75563112 75563112 C T SNP CHST5 ENST00000541075 human ensembl 70_37 -1 known missense c.1189 p.D397N 0.922 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC CIAPIN1 57019 genome.wustl.edu 37 16 57468100 57468100 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 57468100 57468100 C T SNP CIAPIN1 ENST00000394391 human ensembl 70_37 -1 known missense c.412 p.E138K 0.985 NULL pfam_CIAPIN1 - no_errors CIAPIN1 HGNC CIB3 117286 genome.wustl.edu 37 19 16275611 16275611 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 16275611 16275611 C G SNP CIB3 ENST00000269878 human ensembl 70_37 -1 known missense c.460 p.D154H 0.997 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors CIB3 HGNC CIZ1 25792 genome.wustl.edu 37 9 130947884 130947884 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 130947884 130947884 G A SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.530 p.S177L 0.740 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC CLASP1 23332 genome.wustl.edu 37 2 122176241 122176241 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 122176241 122176241 C G SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known missense c.2277 p.E759D 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC CLCA4 22802 genome.wustl.edu 37 1 87043590 87043590 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 87043590 87043590 G C SNP CLCA4 ENST00000370563 human ensembl 70_37 +1 known missense c.1957 p.D653H 1.000 pfam_DUF1973,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC CLDN16 10686 genome.wustl.edu 37 3 190120149 190120149 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 190120149 190120149 C G SNP CLDN16 ENST00000264734 human ensembl 70_37 +1 known silent c.348 p.L116 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC CLEC14A 161198 genome.wustl.edu 37 14 38724388 38724388 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 38724388 38724388 C T SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known silent c.840 p.G280 0.064 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC CLEC4G 339390 genome.wustl.edu 37 19 7795304 7795304 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 7795304 7795304 G A SNP CLEC4G ENST00000328853 human ensembl 70_37 -1 known silent c.411 p.A137 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC CLK3 1198 genome.wustl.edu 37 15 74922134 74922134 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 74922134 74922134 C G SNP CLK3 ENST00000395066 human ensembl 70_37 +1 known missense c.1827 p.I609M 1.000 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 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 CLK3 HGNC CMYA5 202333 genome.wustl.edu 37 5 79027909 79027909 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 79027909 79027909 C G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known silent c.3321 p.L1107 0.922 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNBD2 140894 genome.wustl.edu 37 20 34572654 34572654 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 34572654 34572654 G A SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known missense c.670 p.D224N 0.999 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC CNIH 10175 genome.wustl.edu 37 14 54903140 54903140 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 54903140 54903140 C T SNP CNIH ENST00000216416 human ensembl 70_37 -1 known missense c.97 p.E33K 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH HGNC CNOT10 25904 genome.wustl.edu 37 3 32776386 32776386 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 32776386 32776386 G C SNP CNOT10 ENST00000454516 human ensembl 70_37 +1 known missense c.1612 p.D538H 1.000 NULL pfam_TPR-1,smart_TPR_repeat - no_errors CNOT10 HGNC CNTNAP2 26047 genome.wustl.edu 37 7 147869395 147869395 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 147869395 147869395 G C SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known silent c.2835 p.V945 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC CNTNAP5 129684 genome.wustl.edu 37 2 125281973 125281973 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 125281973 125281973 C A SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known missense c.1418 p.P473Q 0.423 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC COBLL1 22837 genome.wustl.edu 37 2 165578671 165578671 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 165578671 165578671 G A SNP COBLL1 ENST00000194871 human ensembl 70_37 -1 known nonsense c.1108 p.Q370* 1.000 pfam_Cordon-bleu_domain pfam_Cordon-bleu_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC COCH 1690 genome.wustl.edu 37 14 31358950 31358950 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 31358950 31358950 G C SNP COCH ENST00000216361 human ensembl 70_37 +1 known missense c.1606 p.D536H 0.969 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC COL11A2 1302 genome.wustl.edu 37 6 33159972 33159972 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33159972 33159972 G C SNP COL11A2 ENST00000341947 human ensembl 70_37 -1 known missense c.46 p.L16V 0.954 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC COL4A3 1285 genome.wustl.edu 37 2 228121064 228121064 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 228121064 228121064 C G SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known silent c.939 p.V313 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC COLEC12 81035 genome.wustl.edu 37 18 346882 346882 + Missense_Mutation SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 346882 346882 A G SNP COLEC12 ENST00000400256 human ensembl 70_37 -1 known missense c.740 p.V247A 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC COMP 1311 genome.wustl.edu 37 19 18896802 18896802 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 18896802 18896802 G A SNP COMP ENST00000222271 human ensembl 70_37 -1 known missense c.1462 p.P488S 1.000 NULL pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC CORO1B 57175 genome.wustl.edu 37 11 67208821 67208821 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 67208821 67208821 G A SNP CORO1B ENST00000341356 human ensembl 70_37 -1 known missense c.619 p.R207W 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC CORO6 84940 genome.wustl.edu 37 17 27943334 27943334 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 27943334 27943334 C G SNP CORO6 ENST00000345068 human ensembl 70_37 -1 known missense c.1025 p.R342T 1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC CORO7-PAM16 100529144 genome.wustl.edu 37 16 4412623 4412623 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 4412623 4412623 C G SNP CORO7-PAM16 ENST00000572467 human ensembl 70_37 -1 known missense c.1392 p.Q464H 0.990 NULL pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC CP 1356 genome.wustl.edu 37 3 148927989 148927989 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 148927989 148927989 G A SNP CP ENST00000264613 human ensembl 70_37 -1 known missense c.572 p.S191L 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC CPEB2 132864 genome.wustl.edu 37 4 15009019 15009019 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 15009019 15009019 C T SNP CPEB2 ENST00000538197 human ensembl 70_37 +1 known missense c.1753 p.H585Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC CPEB4 80315 genome.wustl.edu 37 5 173383211 173383211 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 173383211 173383211 C T SNP CPEB4 ENST00000519467 human ensembl 70_37 +1 known rna NULL NULL 0.366 - - - no_errors CPEB4 HGNC CPN1 1369 genome.wustl.edu 37 10 101808556 101808556 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 101808556 101808556 C G SNP CPN1 ENST00000370418 human ensembl 70_37 -1 known missense c.1189 p.E397Q 0.002 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC CPNE3 8895 genome.wustl.edu 37 8 87552517 87552517 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 87552517 87552517 C G SNP CPNE3 ENST00000198765 human ensembl 70_37 +1 known missense c.588 p.I196M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE3 HGNC CPNE3 8895 genome.wustl.edu 37 8 87559984 87559984 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 87559984 87559984 C T SNP CPNE3 ENST00000198765 human ensembl 70_37 +1 known nonsense c.865 p.Q289* 1.000 smart_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE3 HGNC CPPED1 55313 genome.wustl.edu 37 16 12798556 12798556 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 12798556 12798556 C T SNP CPPED1 ENST00000381774 human ensembl 70_37 -1 known missense c.640 p.D214N 0.235 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors CPPED1 HGNC CPZ 8532 genome.wustl.edu 37 4 8609103 8609103 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 8609103 8609103 C G SNP CPZ ENST00000360986 human ensembl 70_37 +1 known missense c.1178 p.S393C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,pfscan_Frizzled_dom,prints_Peptidase_M14 - no_errors CPZ HGNC CRAT 1384 genome.wustl.edu 37 9 131869987 131869987 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 131869987 131869987 C T SNP CRAT ENST00000393384 human ensembl 70_37 -1 putative missense c.397 p.E133K 0.001 NULL pfam_Carn_acyl_trans - no_errors CRAT HGNC CRB1 23418 genome.wustl.edu 37 1 197396583 197396583 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 197396583 197396583 G C SNP CRB1 ENST00000367400 human ensembl 70_37 +1 known splice_site c.2129-1 e7-1 1.000 - - - no_errors CRB1 HGNC CRB2 286204 genome.wustl.edu 37 9 126125380 126125380 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 126125380 126125380 G C SNP CRB2 ENST00000373631 human ensembl 70_37 +1 known missense c.331 p.E111Q 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC CREBBP 1387 genome.wustl.edu 37 16 3900459 3900459 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 3900459 3900459 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.637 p.L213F 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CREBZF 58487 genome.wustl.edu 37 11 85375024 85375024 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 85375024 85375024 G C SNP CREBZF ENST00000525639 human ensembl 70_37 -1 known missense c.896 p.S299W 1.000 NULL pfam_bZIP - no_errors CREBZF HGNC CRMP1 1400 genome.wustl.edu 37 4 5858007 5858007 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 5858007 5858007 G C SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known missense c.683 p.S228C 0.769 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC CRMP1 1400 genome.wustl.edu 37 4 5862760 5862760 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 5862760 5862760 C G SNP CRMP1 ENST00000324989 human ensembl 70_37 -1 known silent c.648 p.T216 0.993 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC CRNKL1 51340 genome.wustl.edu 37 20 20024178 20024178 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 20024178 20024178 G C SNP CRNKL1 ENST00000377340 human ensembl 70_37 -1 known missense c.1413 p.I471M 1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC CRNN 49860 genome.wustl.edu 37 1 152382129 152382129 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152382129 152382129 C A SNP CRNN ENST00000271835 human ensembl 70_37 -1 known nonsense c.1429 p.E477* 0.002 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CRNN HGNC CRTC1 23373 genome.wustl.edu 37 19 18879564 18879564 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 18879564 18879564 G C SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known missense c.1329 p.E443D 0.968 NULL NULL - no_errors CRTC1 HGNC CRTC2 200186 genome.wustl.edu 37 1 153930904 153930904 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 153930904 153930904 C T SNP CRTC2 ENST00000368633 human ensembl 70_37 -1 known missense c.70 p.E24K 1.000 NULL NULL - no_errors CRTC2 HGNC CRY1 1407 genome.wustl.edu 37 12 107391157 107391157 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 107391157 107391157 C G SNP CRY1 ENST00000008527 human ensembl 70_37 -1 known silent c.1500 p.L500 1.000 NULL pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC CRYBG3 131544 genome.wustl.edu 37 3 97596225 97596225 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 97596225 97596225 G C SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known missense c.343 p.D115H 0.906 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC CRYGB 1419 genome.wustl.edu 37 2 209007482 209007482 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 209007482 209007482 C T SNP CRYGB ENST00000260988 human ensembl 70_37 -1 known silent c.408 p.E136 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGB HGNC CSE1L 1434 genome.wustl.edu 37 20 47691354 47691354 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 47691354 47691354 G C SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known missense c.1099 p.E367Q 1.000 pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC CSPG4 1464 genome.wustl.edu 37 15 75980337 75980337 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 75980337 75980337 G T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known silent c.3069 p.I1023 0.995 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CSPG4 1464 genome.wustl.edu 37 15 75981898 75981898 + Missense_Mutation SNP T T A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 75981898 75981898 T A SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.1508 p.K503M 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CTAGE1 64693 genome.wustl.edu 37 18 19997772 19997772 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 19997772 19997772 C T SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known missense c.3 p.M1I 0.004 NULL NULL - no_errors CTAGE1 HGNC CTNS 1497 genome.wustl.edu 37 17 3559814 3559814 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 3559814 3559814 G C SNP CTNS ENST00000381870 human ensembl 70_37 +1 known silent c.495 p.L165 0.978 smart_CTNS,tigrfam_LC_transporter smart_CTNS,tigrfam_LC_transporter - no_errors CTNS HGNC CTR9 9646 genome.wustl.edu 37 11 10795563 10795563 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 10795563 10795563 C G SNP CTR9 ENST00000361367 human ensembl 70_37 +1 known missense c.2732 p.S911C 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC CTSZ 1522 genome.wustl.edu 37 20 57570797 57570797 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 57570797 57570797 C T SNP CTSZ ENST00000217131 human ensembl 70_37 -1 known silent c.819 p.L273 0.997 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSZ HGNC CUL9 23113 genome.wustl.edu 37 6 43184222 43184222 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 43184222 43184222 G A SNP CUL9 ENST00000252050 human ensembl 70_37 +1 known missense c.6263 p.C2088Y 1.000 NULL 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 CXorf56 63932 genome.wustl.edu 37 X 118676555 118676555 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 118676555 118676555 C T SNP CXorf56 ENST00000371594 human ensembl 70_37 -1 known silent c.426 p.V142 1.000 NULL NULL - no_errors CXorf56 HGNC CYP1A2 1544 genome.wustl.edu 37 15 75047222 75047222 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 75047222 75047222 G C SNP CYP1A2 ENST00000343932 human ensembl 70_37 +1 known missense c.1344 p.M448I 0.016 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC CYP20A1 57404 genome.wustl.edu 37 2 204131338 204131338 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 204131338 204131338 G C SNP CYP20A1 ENST00000356079 human ensembl 70_37 +1 known missense c.534 p.Q178H 0.997 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV - no_errors CYP20A1 HGNC CYP2C9 1559 genome.wustl.edu 37 10 96702004 96702004 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 96702004 96702004 G A SNP CYP2C9 ENST00000260682 human ensembl 70_37 +1 known missense c.387 p.M129I 0.989 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC CYP4Z1 199974 genome.wustl.edu 37 1 47571830 47571830 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 47571830 47571830 G A SNP CYP4Z1 ENST00000334194 human ensembl 70_37 +1 known silent c.1098 p.T366 0.964 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC DAAM1 23002 genome.wustl.edu 37 14 59782054 59782054 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 59782054 59782054 C G SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known silent c.330 p.L110 0.494 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC DAAM1 23002 genome.wustl.edu 37 14 59821958 59821958 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 59821958 59821958 G A SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known missense c.2462 p.G821E 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC DAB1 1600 genome.wustl.edu 37 1 57480998 57480998 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 57480998 57480998 C T SNP DAB1 ENST00000371231 human ensembl 70_37 -1 known silent c.1101 p.P367 0.243 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB1 HGNC DAD1 1603 genome.wustl.edu 37 14 23043981 23043981 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 23043981 23043981 C T SNP DAD1 ENST00000489532 human ensembl 70_37 -1 known rna NULL NULL 0.480 - - - no_errors DAD1 HGNC DAP3 7818 genome.wustl.edu 37 1 155695199 155695199 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155695199 155695199 G C SNP DAP3 ENST00000343043 human ensembl 70_37 +1 known silent c.297 p.L99 0.997 pfam_Ribosomal_S23/S29_mit pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC DCAF11 80344 genome.wustl.edu 37 14 24588935 24588935 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 24588935 24588935 G C SNP DCAF11 ENST00000446197 human ensembl 70_37 +1 known missense c.922 p.D308H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC DCAKD 79877 genome.wustl.edu 37 17 43101914 43101914 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 43101914 43101914 C G SNP DCAKD ENST00000342350 human ensembl 70_37 -1 known missense c.583 p.E195Q 0.004 NULL pfam_Depp_CoAkinase,tigrfam_Depp_CoAkinase - no_errors DCAKD HGNC DCC 1630 genome.wustl.edu 37 18 50278549 50278549 + Missense_Mutation SNP A A C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 50278549 50278549 A C SNP DCC ENST00000442544 human ensembl 70_37 +1 known missense c.217 p.K73Q 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DCHS1 8642 genome.wustl.edu 37 11 6652990 6652990 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 6652990 6652990 G C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.3532 p.Q1178E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCLRE1A 9937 genome.wustl.edu 37 10 115602210 115602210 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 115602210 115602210 C T SNP DCLRE1A ENST00000361384 human ensembl 70_37 -1 known missense c.2557 p.E853K 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC DCP1A 55802 genome.wustl.edu 37 3 53326674 53326674 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 53326674 53326674 G C SNP DCP1A ENST00000294241 human ensembl 70_37 -1 known rna NULL NULL 0.226 - - - no_errors DCP1A HGNC DCTN1 1639 genome.wustl.edu 37 2 74598150 74598150 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 74598150 74598150 C G SNP DCTN1 ENST00000361874 human ensembl 70_37 -1 known missense c.799 p.E267Q 1.000 NULL pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC DDIT4 54541 genome.wustl.edu 37 10 74034053 74034053 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 74034053 74034053 G C SNP DDIT4 ENST00000307365 human ensembl 70_37 +1 known missense c.79 p.D27H 0.982 NULL pfam_RTP801-like - no_errors DDIT4 HGNC DDX11 1663 genome.wustl.edu 37 12 31244671 31244671 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 31244671 31244671 C T SNP DDX11 ENST00000407793 human ensembl 70_37 +1 known nonsense c.1108 p.Q370* 1.000 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC DDX46 9879 genome.wustl.edu 37 5 134153216 134153216 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134153216 134153216 C T SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known missense c.2644 p.L882F 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC DDX5 1655 genome.wustl.edu 37 17 62500815 62500815 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 62500815 62500815 C T SNP DDX5 ENST00000225792 human ensembl 70_37 -1 known missense c.190 p.D64N 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC DFFB 1677 genome.wustl.edu 37 1 3782246 3782246 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 3782246 3782246 C G SNP DFFB ENST00000339350 human ensembl 70_37 +1 known nonsense c.281 p.S94* 0.000 NULL pfam_CAD,smart_CAD,pfscan_CAD - no_errors DFFB HGNC DGCR6 8214 genome.wustl.edu 37 22 18893924 18893924 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 18893924 18893924 G C SNP DGCR6 ENST00000331444 human ensembl 70_37 +1 known missense c.37 p.D13H 0.679 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC DGKI 9162 genome.wustl.edu 37 7 137082127 137082127 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 137082127 137082127 C A SNP DGKI ENST00000424189 human ensembl 70_37 -1 known nonsense c.2986 p.E996* 0.995 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC DGKK 139189 genome.wustl.edu 37 X 50213605 50213605 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 50213605 50213605 C G SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.986 - - - no_errors DGKK HGNC DHRS1 115817 genome.wustl.edu 37 14 24765737 24765737 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 24765737 24765737 C T SNP DHRS1 ENST00000288111 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH - no_errors DHRS1 HGNC DHRS12 79758 genome.wustl.edu 37 13 52348140 52348140 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 52348140 52348140 G A SNP DHRS12 ENST00000444610 human ensembl 70_37 -1 known nonsense c.541 p.Q181* 1.000 pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DHRS12 HGNC DHRS3 9249 genome.wustl.edu 37 1 12677172 12677172 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 12677172 12677172 C T SNP DHRS3 ENST00000376223 human ensembl 70_37 -1 known missense c.182 p.R61H 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC DHX29 54505 genome.wustl.edu 37 5 54570469 54570469 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 54570469 54570469 G C SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known nonsense c.2663 p.S888* 0.983 smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC DHX32 55760 genome.wustl.edu 37 10 127542656 127542656 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 127542656 127542656 G C SNP DHX32 ENST00000284690 human ensembl 70_37 -1 known silent c.966 p.L322 0.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC DHX34 9704 genome.wustl.edu 37 19 47883165 47883165 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 47883165 47883165 G A SNP DHX34 ENST00000328771 human ensembl 70_37 +1 known missense c.2905 p.E969K 0.020 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX34 HGNC DIEXF 27042 genome.wustl.edu 37 1 210015736 210015736 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 210015736 210015736 C T SNP DIEXF ENST00000491415 human ensembl 70_37 +1 known nonsense c.1612 p.Q538* 1.000 pfam_Digest_organ_expansion_fac-prd pfam_Digest_organ_expansion_fac-prd - no_errors DIEXF HGNC DIRAS3 9077 genome.wustl.edu 37 1 68512353 68512353 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 68512353 68512353 C G SNP DIRAS3 ENST00000370981 human ensembl 70_37 -1 known missense c.628 p.E210Q 0.000 NULL 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 DIRAS3 HGNC DIS3L 115752 genome.wustl.edu 37 15 66618191 66618191 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 66618191 66618191 G A SNP DIS3L ENST00000319212 human ensembl 70_37 +1 known missense c.1690 p.E564K 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC DISC1 27185 genome.wustl.edu 37 1 231830494 231830494 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 231830494 231830494 C T SNP DISC1 ENST00000439617 human ensembl 70_37 +1 known silent c.990 p.L330 0.007 NULL superfamily_Prefoldin - no_errors DISC1 HGNC DLC1 10395 genome.wustl.edu 37 8 12957629 12957629 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 12957629 12957629 C T SNP DLC1 ENST00000276297 human ensembl 70_37 -1 known silent c.2217 p.Q739 1.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC DLGAP4 22839 genome.wustl.edu 37 20 35060247 35060247 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 35060247 35060247 G A SNP DLGAP4 ENST00000339266 human ensembl 70_37 +1 known missense c.127 p.E43K 0.999 NULL pfam_GKAP - no_errors DLGAP4 HGNC DMBT1 1755 genome.wustl.edu 37 10 124348773 124348773 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 124348773 124348773 C T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known silent c.2097 p.V699 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DMXL2 23312 genome.wustl.edu 37 15 51768825 51768825 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 51768825 51768825 C G SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.6925 p.E2309Q 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DNAH1 25981 genome.wustl.edu 37 3 52417975 52417975 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 52417975 52417975 G A SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.8250 p.L2750 0.943 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH1 25981 genome.wustl.edu 37 3 52432098 52432098 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 52432098 52432098 C T SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known silent c.12009 p.I4003 0.190 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH11 8701 genome.wustl.edu 37 7 21826259 21826259 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 21826259 21826259 G A SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known silent c.9636 p.L3212 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH17 8632 genome.wustl.edu 37 17 76435191 76435191 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 76435191 76435191 C G SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.11744 p.G3915A 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNAH5 1767 genome.wustl.edu 37 5 13830290 13830290 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 13830290 13830290 C T SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.6094 p.D2032N 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAH5 1767 genome.wustl.edu 37 5 13916485 13916485 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 13916485 13916485 G C SNP DNAH5 ENST00000265104 human ensembl 70_37 -1 known missense c.1169 p.S390C 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC DNAH8 1769 genome.wustl.edu 37 6 38738332 38738332 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 38738332 38738332 G C SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.1110 p.E370D 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAJB1 3337 genome.wustl.edu 37 19 14629110 14629110 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 14629110 14629110 C T SNP DNAJB1 ENST00000254322 human ensembl 70_37 -1 known missense c.52 p.E18K 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB1 HGNC DNAJC1 64215 genome.wustl.edu 37 10 22048443 22048443 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 22048443 22048443 C G SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1252 p.E418Q 0.000 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC DNALI1 7802 genome.wustl.edu 37 1 38027426 38027426 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 38027426 38027426 C T SNP DNALI1 ENST00000497858 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DNALI1 HGNC DNM1L 10059 genome.wustl.edu 37 12 32890800 32890800 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 32890800 32890800 C T SNP DNM1L ENST00000553257 human ensembl 70_37 +1 known missense c.1637 p.S546F 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors DNM1L HGNC DNMBP 23268 genome.wustl.edu 37 10 101715662 101715662 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 101715662 101715662 C T SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.1569 p.M523I 0.000 NULL pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC DNMBP 23268 genome.wustl.edu 37 10 101716192 101716192 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 101716192 101716192 C T SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known missense c.1039 p.E347K 0.004 superfamily_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC DNMT3A 1788 genome.wustl.edu 37 2 25505330 25505330 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 25505330 25505330 C T SNP DNMT3A ENST00000264709 human ensembl 70_37 -1 known missense c.428 p.R143Q 1.000 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC DOCK10 55619 genome.wustl.edu 37 2 225751178 225751178 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 225751178 225751178 C T SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.487 p.E163K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC DOK5 55816 genome.wustl.edu 37 20 53226988 53226988 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 53226988 53226988 C G SNP DOK5 ENST00000262593 human ensembl 70_37 +1 known missense c.661 p.Q221E 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK5 HGNC DOK6 220164 genome.wustl.edu 37 18 67365819 67365819 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 67365819 67365819 G A SNP DOK6 ENST00000382713 human ensembl 70_37 +1 known missense c.589 p.E197K 1.000 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37642322 37642322 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 37642322 37642322 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.5499 p.Q1833H 0.969 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DOT1L 84444 genome.wustl.edu 37 19 2226837 2226837 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 2226837 2226837 C T SNP DOT1L ENST00000398665 human ensembl 70_37 +1 known silent c.4317 p.L1439 0.764 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC DPF3 8110 genome.wustl.edu 37 14 73190406 73190406 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 73190406 73190406 C T SNP DPF3 ENST00000366353 human ensembl 70_37 -1 known missense c.625 p.E209K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC DSCAML1 57453 genome.wustl.edu 37 11 117303882 117303882 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 117303882 117303882 G C SNP DSCAML1 ENST00000321322 human ensembl 70_37 -1 known missense c.5178 p.I1726M 0.853 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC DSG3 1830 genome.wustl.edu 37 18 29046629 29046629 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29046629 29046629 G A SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known silent c.1548 p.L516 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC DSG3 1830 genome.wustl.edu 37 18 29049131 29049131 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29049131 29049131 G C SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.1716 p.Q572H 0.082 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC DSG3 1830 genome.wustl.edu 37 18 29054363 29054363 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29054363 29054363 C T SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.2381 p.S794F 1.000 prints_Desmoglein pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC DSG4 147409 genome.wustl.edu 37 18 28993427 28993427 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 28993427 28993427 G C SNP DSG4 ENST00000359747 human ensembl 70_37 +1 known missense c.3049 p.G1017R 0.997 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG4 HGNC DSP 1832 genome.wustl.edu 37 6 7582905 7582905 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 7582905 7582905 C T SNP DSP ENST00000379802 human ensembl 70_37 +1 known nonsense c.5410 p.Q1804* 0.987 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DUS2 54920 genome.wustl.edu 37 16 68090294 68090294 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 68090294 68090294 C G SNP DUS2L ENST00000358896 human ensembl 70_37 +1 known silent c.336 p.V112 0.999 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_Ds-RNA-bd,smart_Ds-RNA-bd - no_errors DUS2L HGNC DUSP27 92235 genome.wustl.edu 37 1 167097844 167097844 + Nonstop_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 167097844 167097844 G C SNP DUSP27 ENST00000271385 human ensembl 70_37 +1 known nonstop c.3476 p.*1159S 0.401 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP27 HGNC DYNC1LI2 1783 genome.wustl.edu 37 16 66764083 66764083 + Frame_Shift_Del DEL C C - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 66764083 66764083 C - DEL DYNC1LI2 ENST00000258198 human ensembl 70_37 -1 known frame_shift_del c.973 p.E325fs 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain - no_errors DYNC1LI2 HGNC DYRK1A 1859 genome.wustl.edu 37 21 38884574 38884574 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 38884574 38884574 C G SNP DYRK1A ENST00000398960 human ensembl 70_37 +1 known missense c.2032 p.Q678E 1.000 NULL 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 DYRK1A HGNC ECH1 1891 genome.wustl.edu 37 19 39306254 39306254 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 39306254 39306254 C T SNP ECH1 ENST00000221418 human ensembl 70_37 -1 known silent c.986 p.*329 0.997 NULL pfam_Crotonase_core - no_errors ECH1 HGNC EDC4 23644 genome.wustl.edu 37 16 67910814 67910814 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67910814 67910814 G C SNP EDC4 ENST00000358933 human ensembl 70_37 +1 known missense c.390 p.Q130H 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC EDEM2 55741 genome.wustl.edu 37 20 33706307 33706307 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 33706307 33706307 G C SNP EDEM2 ENST00000540582 human ensembl 70_37 -1 known missense c.1207 p.Q403E 0.011 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC EDEM2 55741 genome.wustl.edu 37 20 33706316 33706316 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 33706316 33706316 G C SNP EDEM2 ENST00000540582 human ensembl 70_37 -1 known missense c.1198 p.L400V 0.059 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC EDIL3 10085 genome.wustl.edu 37 5 83360566 83360566 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 83360566 83360566 C T SNP EDIL3 ENST00000296591 human ensembl 70_37 -1 known missense c.905 p.R302Q 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC EEF2 1938 genome.wustl.edu 37 19 3984340 3984340 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 3984340 3984340 G A SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known silent c.12 p.F4 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC EFCAB3 146779 genome.wustl.edu 37 17 60491167 60491167 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 60491167 60491167 G C SNP EFCAB3 ENST00000450662 human ensembl 70_37 +1 known missense c.1098 p.K366N 1.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB3 HGNC EFCAB6 64800 genome.wustl.edu 37 22 44112776 44112776 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 44112776 44112776 G C SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.834 p.I278M 0.602 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC EFTUD1 79631 genome.wustl.edu 37 15 82533678 82533678 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 82533678 82533678 G C SNP EFTUD1 ENST00000268206 human ensembl 70_37 -1 known nonsense c.311 p.S104* 0.995 pfam_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC EGFR 1956 genome.wustl.edu 37 7 55240568 55240568 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 55240568 55240568 C T SNP EGFR ENST00000442591 human ensembl 70_37 +1 known missense c.1949 p.S650L 0.000 smart_Furin_repeat pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat - no_errors EGFR HGNC EHF 26298 genome.wustl.edu 37 11 34668238 34668238 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 34668238 34668238 C T SNP EHF ENST00000527935 human ensembl 70_37 +1 putative missense c.350 p.S117F 0.059 superfamily_SAM/pointed pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom - no_errors EHF HGNC EIF2A 83939 genome.wustl.edu 37 3 150293454 150293454 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 150293454 150293454 C T SNP EIF2A ENST00000460851 human ensembl 70_37 +1 known nonsense c.1402 p.Q468* 1.000 pirsf_TIF2A pfam_TIF2A_beta_prop-like,pirsf_TIF2A - no_errors EIF2A HGNC EIF2B5 8893 genome.wustl.edu 37 3 183858264 183858264 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 183858264 183858264 C G SNP EIF2B5 ENST00000273783 human ensembl 70_37 +1 known missense c.902 p.S301C 1.000 superfamily_Trimer_LpxA-like pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC AGO4 192670 genome.wustl.edu 37 1 36297506 36297506 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 36297506 36297506 G A SNP EIF2C4 ENST00000373210 human ensembl 70_37 +1 known missense c.1090 p.D364N 1.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C4 HGNC EIF2S1 1965 genome.wustl.edu 37 14 67850119 67850119 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 67850119 67850119 G C SNP EIF2S1 ENST00000256383 human ensembl 70_37 +1 known missense c.910 p.D304H 1.000 NULL pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC EIF3A 8661 genome.wustl.edu 37 10 120819416 120819416 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 120819416 120819416 C G SNP EIF3A ENST00000462527 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors EIF3A HGNC EIF3I 8668 genome.wustl.edu 37 1 32696563 32696563 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 32696563 32696563 G C SNP EIF3I ENST00000373586 human ensembl 70_37 +1 known missense c.839 p.R280T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC EIF4G1 1981 genome.wustl.edu 37 3 184040704 184040704 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 184040704 184040704 G A SNP EIF4G1 ENST00000352767 human ensembl 70_37 +1 known missense c.1912 p.E638K 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC EIF4G1 1981 genome.wustl.edu 37 3 184040742 184040742 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 184040742 184040742 G C SNP EIF4G1 ENST00000352767 human ensembl 70_37 +1 known missense c.1950 p.K650N 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ELL3 80237 genome.wustl.edu 37 15 44068050 44068050 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 44068050 44068050 G A SNP ELL3 ENST00000319359 human ensembl 70_37 -1 known missense c.353 p.S118F 0.924 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ELMO3 79767 genome.wustl.edu 37 16 67235753 67235753 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67235753 67235753 G C SNP ELMO3 ENST00000393997 human ensembl 70_37 +1 known missense c.1186 p.E396Q 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC EMR1 2015 genome.wustl.edu 37 19 6908765 6908765 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 6908765 6908765 G C SNP EMR1 ENST00000312053 human ensembl 70_37 +1 known silent c.1104 p.T368 0.000 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENG 2022 genome.wustl.edu 37 9 130605495 130605495 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 130605495 130605495 G A SNP ENG ENST00000373203 human ensembl 70_37 -1 known nonsense c.97 p.Q33* 0.993 NULL pfam_ZP_dom - no_errors ENG HGNC ENOSF1 55556 genome.wustl.edu 37 18 674174 674174 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 674174 674174 G A SNP ENOSF1 ENST00000583973 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ENOSF1 HGNC ENSG00000181464 0 genome.wustl.edu 37 17 15469463 15469463 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 15469463 15469463 G C SNP ENSG00000181464 ENST00000312127 human ensembl 70_37 -1 known nonsense c.116 p.S39* 0.983 NULL NULL - no_errors CDRT1 Uniprot_genename ENSG00000207130 0 genome.wustl.edu 37 3 128433441 128433441 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 128433441 128433441 G A SNP ENSG00000207130 ENST00000384401 human ensembl 70_37 -1 novel rna NULL NULL 1.000 - - - no_errors SNORA24 RFAM ENSG00000227217 0 genome.wustl.edu 37 1 157666171 157666171 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 157666171 157666171 C T SNP ENSG00000227217 ENST00000453692 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-367J7.3 Clone_based_vega_gene ENSG00000243155 0 genome.wustl.edu 37 1 180913468 180913468 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 180913468 180913468 C G SNP ENSG00000243155 ENST00000358073 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-46A10.5 Clone_based_vega_gene ENSG00000253917 0 genome.wustl.edu 37 4 3919560 3919560 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 3919560 3919560 C T SNP ENSG00000253917 ENST00000514073 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC226119.4 Clone_based_vega_gene ENSG00000257095 0 genome.wustl.edu 37 12 119554728 119554728 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 119554728 119554728 C G SNP ENSG00000257095 ENST00000537730 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-364C11.2 Clone_based_vega_gene ENSG00000257913 0 genome.wustl.edu 37 12 49412512 49412512 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 49412512 49412512 C T SNP ENSG00000257913 ENST00000547866 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-386G11.5 Clone_based_vega_gene ENSG00000259520 0 genome.wustl.edu 37 15 45545733 45545733 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 45545733 45545733 G C SNP ENSG00000259520 ENST00000560344 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2651B20.3 Clone_based_vega_gene ENSG00000262580 0 genome.wustl.edu 37 17 78175927 78175927 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 78175927 78175927 C T SNP ENSG00000262580 ENST00000570309 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-334C17.5 Clone_based_vega_gene ENSG00000266156 0 genome.wustl.edu 37 19 20988370 20988370 + RNA DEL T T - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 20988370 20988370 T - DEL ENSG00000266156 ENST00000582722 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000267670 0 genome.wustl.edu 37 19 14141855 14141855 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 14141855 14141855 C T SNP ENSG00000267670 ENST00000590528 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CTB-55O6.4 Clone_based_vega_gene ENSG00000269176 0 genome.wustl.edu 37 11 62553637 62553637 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 62553637 62553637 G A SNP ENSG00000269176 ENST00000601484 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-727F15.12 Clone_based_vega_gene ENSG00000269490 0 genome.wustl.edu 37 6 33663377 33663377 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33663377 33663377 G A SNP ENSG00000269490 ENST00000594414 human ensembl 70_37 -1 known missense c.98 p.S33L 0.000 NULL NULL - no_errors SBP1 Uniprot_genename ENTPD7 57089 genome.wustl.edu 37 10 101464287 101464287 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 101464287 101464287 C G SNP ENTPD7 ENST00000370489 human ensembl 70_37 +1 known missense c.1662 p.F554L 1.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC EP400 57634 genome.wustl.edu 37 12 132448185 132448185 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 132448185 132448185 C T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known nonsense c.1444 p.Q482* 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC EPAS1 2034 genome.wustl.edu 37 2 46525033 46525033 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 46525033 46525033 C G SNP EPAS1 ENST00000467888 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors EPAS1 HGNC EPB41 2035 genome.wustl.edu 37 1 29342242 29342242 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 29342242 29342242 C G SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known missense c.868 p.P290A 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC EPG5 57724 genome.wustl.edu 37 18 43447670 43447670 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 43447670 43447670 G A SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known missense c.6269 p.S2090F 0.842 NULL NULL - no_errors EPG5 HGNC EPG5 57724 genome.wustl.edu 37 18 43450595 43450595 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 43450595 43450595 C T SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known silent c.6162 p.T2054 0.008 NULL NULL - no_errors EPG5 HGNC EPG5 57724 genome.wustl.edu 37 18 43467829 43467829 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 43467829 43467829 G A SNP EPG5 ENST00000282041 human ensembl 70_37 -1 known nonsense c.4996 p.Q1666* 0.999 NULL NULL - no_errors EPG5 HGNC EPHA2 1969 genome.wustl.edu 37 1 16475043 16475043 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16475043 16475043 G C SNP EPHA2 ENST00000358432 human ensembl 70_37 -1 known missense c.653 p.S218C 0.937 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC EPHA4 2043 genome.wustl.edu 37 2 222294716 222294716 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 222294716 222294716 G A SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known silent c.2652 p.N884 0.999 superfamily_Kinase-like_dom,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC EPHB6 2051 genome.wustl.edu 37 7 142563810 142563810 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 142563810 142563810 G A SNP EPHB6 ENST00000392957 human ensembl 70_37 +1 known missense c.1198 p.D400N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB6 HGNC EPPK1 83481 genome.wustl.edu 37 8 144945860 144945860 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144945860 144945860 G C SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known nonsense c.1562 p.S521* 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ERC1 23085 genome.wustl.edu 37 12 1372230 1372230 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 1372230 1372230 G C SNP ERC1 ENST00000360905 human ensembl 70_37 +1 known missense c.2518 p.E840Q 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ERCC6L 54821 genome.wustl.edu 37 X 71426886 71426886 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 71426886 71426886 C G SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.1731 p.E577D 0.998 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ERF 2077 genome.wustl.edu 37 19 42753675 42753675 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 42753675 42753675 C A SNP ERF ENST00000222329 human ensembl 70_37 -1 known nonsense c.589 p.E197* 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERF HGNC ESPN 83715 genome.wustl.edu 37 1 6511783 6511783 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 6511783 6511783 C T SNP ESPN ENST00000377828 human ensembl 70_37 +1 known missense c.2036 p.S679L 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom - no_errors ESPN HGNC ESYT2 57488 genome.wustl.edu 37 7 158534343 158534343 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 158534343 158534343 C T SNP ESYT2 ENST00000251527 human ensembl 70_37 -1 known missense c.2120 p.R707K 0.995 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ETV5 2119 genome.wustl.edu 37 3 185798884 185798884 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 185798884 185798884 C T SNP ETV5 ENST00000537818 human ensembl 70_37 -1 known missense c.439 p.E147K 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV5 HGNC EVL 51466 genome.wustl.edu 37 14 100604120 100604120 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 100604120 100604120 C G SNP EVL ENST00000392920 human ensembl 70_37 +1 known missense c.1075 p.Q359E 1.000 pirsf_Vasodilator_phosphoprotein pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_EVH1 - no_errors EVL HGNC EVX2 344191 genome.wustl.edu 37 2 176945275 176945275 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 176945275 176945275 G A SNP EVX2 ENST00000308618 human ensembl 70_37 -1 known missense c.991 p.R331W 0.991 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC EXOC1 55763 genome.wustl.edu 37 4 56736998 56736998 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 56736998 56736998 C T SNP EXOC1 ENST00000346134 human ensembl 70_37 +1 known missense c.758 p.S253F 1.000 pfam_Exocyst_Exoc1 pfam_Exocyst_Exoc1 - no_errors EXOC1 HGNC EXOC3 11336 genome.wustl.edu 37 5 446437 446437 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 446437 446437 G A SNP EXOC3 ENST00000315013 human ensembl 70_37 +1 known silent c.117 p.K39 0.980 NULL pfam_Sec6 - no_errors EXOC3 HGNC EXOC6 54536 genome.wustl.edu 37 10 94700547 94700547 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 94700547 94700547 G A SNP EXOC6 ENST00000371547 human ensembl 70_37 +1 known missense c.1324 p.E442K 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC EXOC8 149371 genome.wustl.edu 37 1 231472064 231472064 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 231472064 231472064 G C SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known missense c.1428 p.I476M 0.023 superfamily_Cullin_repeat-like_dom pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC EXOC8 149371 genome.wustl.edu 37 1 231472148 231472148 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 231472148 231472148 G C SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known missense c.1344 p.I448M 0.633 superfamily_Cullin_repeat-like_dom pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC EXOSC9 5393 genome.wustl.edu 37 4 122735121 122735121 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 122735121 122735121 G A SNP EXOSC9 ENST00000379663 human ensembl 70_37 +1 known missense c.1075 p.E359K 0.990 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC F11R 50848 genome.wustl.edu 37 1 160971084 160971084 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 160971084 160971084 C G SNP F11R ENST00000436182 human ensembl 70_37 -1 known missense c.136 p.E46Q 0.936 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors F11R HGNC F13B 2165 genome.wustl.edu 37 1 197026206 197026206 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 197026206 197026206 G C SNP F13B ENST00000367412 human ensembl 70_37 -1 known missense c.1108 p.L370V 0.022 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC F7 2155 genome.wustl.edu 37 13 113770018 113770018 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 113770018 113770018 G C SNP F7 ENST00000375581 human ensembl 70_37 +1 known missense c.475 p.E159Q 0.998 smart_EG-like_dom,pirsf_Pept_S1A_FX pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain - no_errors F7 HGNC FAHD2A 51011 genome.wustl.edu 37 2 96076738 96076738 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 96076738 96076738 C G SNP FAHD2A ENST00000233379 human ensembl 70_37 +1 known missense c.649 p.L217V 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC FAM102A 399665 genome.wustl.edu 37 9 130742405 130742405 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 130742405 130742405 C G SNP FAM102A ENST00000373095 human ensembl 70_37 -1 known missense c.12 p.L4F 1.000 NULL pfam_NT-C2 - no_errors FAM102A HGNC FAM129A 116496 genome.wustl.edu 37 1 184764121 184764121 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 184764121 184764121 G A SNP FAM129A ENST00000367511 human ensembl 70_37 -1 known missense c.2777 p.S926L 0.196 NULL NULL - no_errors FAM129A HGNC FAM13A 10144 genome.wustl.edu 37 4 89941646 89941646 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 89941646 89941646 G C SNP FAM13A ENST00000264344 human ensembl 70_37 -1 known nonsense c.392 p.S131* 0.017 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC FAM171A1 221061 genome.wustl.edu 37 10 15255395 15255395 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 15255395 15255395 C T SNP FAM171A1 ENST00000378116 human ensembl 70_37 -1 known missense c.2192 p.G731E 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC TVP23B 51030 genome.wustl.edu 37 17 18702243 18702243 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 18702243 18702243 G C SNP FAM18B1 ENST00000307767 human ensembl 70_37 +1 known missense c.449 p.R150T 0.997 pfam_DUF846_euk pfam_DUF846_euk - no_errors FAM18B1 HGNC FAM209B 388799 genome.wustl.edu 37 20 55108465 55108465 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 55108465 55108465 C T SNP FAM209B ENST00000371325 human ensembl 70_37 +1 known missense c.68 p.S23F 0.942 NULL NULL - no_errors FAM209B HGNC FAM20A 54757 genome.wustl.edu 37 17 66538872 66538872 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 66538872 66538872 C T SNP FAM20A ENST00000592554 human ensembl 70_37 -1 known silent c.891 p.K297 1.000 NULL pfam_DUF1193 - no_errors FAM20A HGNC FAM214A 56204 genome.wustl.edu 37 15 52901377 52901377 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 52901377 52901377 C T SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known silent c.1734 p.L578 0.002 NULL NULL - no_errors FAM214A HGNC NUTM2A 728118 genome.wustl.edu 37 10 88994238 88994238 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 88994238 88994238 G A SNP FAM22A ENST00000381707 human ensembl 70_37 +1 known missense c.2410 p.E804K 0.000 NULL NULL - no_errors FAM22A HGNC SUPT20H 55578 genome.wustl.edu 37 13 37598223 37598223 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 37598223 37598223 G C SNP FAM48A ENST00000350612 human ensembl 70_37 -1 known missense c.1540 p.Q514E 1.000 NULL pfam_Spt20 - no_errors FAM48A HGNC FAM50B 26240 genome.wustl.edu 37 6 3850731 3850731 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 3850731 3850731 C T SNP FAM50B ENST00000380272 human ensembl 70_37 +1 known missense c.686 p.S229F 0.006 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC FAM53B 9679 genome.wustl.edu 37 10 126384767 126384767 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 126384767 126384767 C G SNP FAM53B ENST00000337318 human ensembl 70_37 -1 known missense c.93 p.K31N 1.000 NULL NULL - no_errors FAM53B HGNC FAM57A 79850 genome.wustl.edu 37 17 643789 643789 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 643789 643789 C T SNP FAM57A ENST00000308278 human ensembl 70_37 +1 known silent c.453 p.F151 0.990 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57A HGNC FAM65B 9750 genome.wustl.edu 37 6 24843776 24843776 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 24843776 24843776 G C SNP FAM65B ENST00000259698 human ensembl 70_37 -1 known missense c.1234 p.L412V 1.000 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC FAM71F2 346653 genome.wustl.edu 37 7 128315720 128315720 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 128315720 128315720 G A SNP FAM71F2 ENST00000480462 human ensembl 70_37 +1 known missense c.172 p.D58N 0.498 NULL pfam_DUF3699 - no_errors FAM71F2 HGNC FAM83B 222584 genome.wustl.edu 37 6 54735070 54735070 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 54735070 54735070 C T SNP FAM83B ENST00000306858 human ensembl 70_37 +1 known missense c.26 p.S9L 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC FAM86EP 348926 genome.wustl.edu 37 4 3949518 3949518 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 3949518 3949518 C T SNP FAM86EP ENST00000313946 human ensembl 70_37 -1 known rna NULL NULL 0.144 - - - no_errors FAM86EP HGNC FANK1 92565 genome.wustl.edu 37 10 127693572 127693572 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 127693572 127693572 G A SNP FANK1 ENST00000368693 human ensembl 70_37 +1 known missense c.659 p.G220E 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC FARP2 9855 genome.wustl.edu 37 2 242430942 242430942 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 242430942 242430942 G C SNP FARP2 ENST00000264042 human ensembl 70_37 +1 known missense c.2635 p.E879Q 0.995 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC FASLG 356 genome.wustl.edu 37 1 172635076 172635076 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 172635076 172635076 C T SNP FASLG ENST00000367721 human ensembl 70_37 +1 known missense c.766 p.H256Y 0.030 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_Fas_ligand,prints_TNF_a/b/c,prints_TNF_C - no_errors FASLG HGNC FASTKD1 79675 genome.wustl.edu 37 2 170396650 170396650 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 170396650 170396650 G C SNP FASTKD1 ENST00000453153 human ensembl 70_37 -1 known missense c.1856 p.S619C 0.112 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC FAT2 2196 genome.wustl.edu 37 5 150892005 150892005 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 150892005 150892005 G T SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.11626 p.L3876I 0.353 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT2 2196 genome.wustl.edu 37 5 150932740 150932740 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 150932740 150932740 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.4154 p.S1385* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT2 2196 genome.wustl.edu 37 5 150947186 150947186 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 150947186 150947186 G A SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known missense c.1307 p.S436L 0.266 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FBLN2 2199 genome.wustl.edu 37 3 13679362 13679362 + Frame_Shift_Del DEL C C - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 13679362 13679362 C - DEL FBLN2 ENST00000404922 human ensembl 70_37 +1 known frame_shift_del c.3639 p.S1214fs 0.989 NULL pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC FBXL20 84961 genome.wustl.edu 37 17 37499465 37499465 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 37499465 37499465 G C SNP FBXL20 ENST00000264658 human ensembl 70_37 -1 known missense c.72 p.I24M 1.000 pfscan_F-box_dom_cyclin-like pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL20 HGNC FBXO24 26261 genome.wustl.edu 37 7 100189465 100189465 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 100189465 100189465 C T SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known silent c.612 p.L204 0.990 NULL pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC FBXO42 54455 genome.wustl.edu 37 1 16577299 16577299 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16577299 16577299 G T SNP FBXO42 ENST00000375592 human ensembl 70_37 -1 known missense c.2020 p.P674T 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO42 HGNC FBXO46 23403 genome.wustl.edu 37 19 46215971 46215971 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 46215971 46215971 G A SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known silent c.783 p.I261 0.632 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC FBXW2 26190 genome.wustl.edu 37 9 123533705 123533705 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 123533705 123533705 G A SNP FBXW2 ENST00000373926 human ensembl 70_37 -1 known missense c.997 p.H333Y 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC FBXW9 84261 genome.wustl.edu 37 19 12800031 12800031 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 12800031 12800031 C T SNP FBXW9 ENST00000380339 human ensembl 70_37 -1 known silent c.1466 p.*489 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC FCHO2 115548 genome.wustl.edu 37 5 72311459 72311459 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 72311459 72311459 C G SNP FCHO2 ENST00000341845 human ensembl 70_37 +1 known missense c.607 p.Q203E 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,smart_FCH,pfscan_FCH - no_errors FCHO2 HGNC FCHSD1 89848 genome.wustl.edu 37 5 141023934 141023934 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 141023934 141023934 G C SNP FCHSD1 ENST00000435817 human ensembl 70_37 -1 known missense c.1714 p.L572V 0.814 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FCHSD1 HGNC FCN3 8547 genome.wustl.edu 37 1 27700642 27700642 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 27700642 27700642 C G SNP FCN3 ENST00000481748 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FCN3 HGNC FCRL6 343413 genome.wustl.edu 37 1 159778006 159778006 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 159778006 159778006 G C SNP FCRL6 ENST00000368106 human ensembl 70_37 +1 known missense c.91 p.E31Q 0.998 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL6 HGNC FERMT3 83706 genome.wustl.edu 37 11 63990556 63990556 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 63990556 63990556 C T SNP FERMT3 ENST00000279227 human ensembl 70_37 +1 known silent c.1719 p.I573 0.611 NULL pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC FEZ1 9638 genome.wustl.edu 37 11 125325883 125325883 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 125325883 125325883 C G SNP FEZ1 ENST00000278919 human ensembl 70_37 -1 known missense c.787 p.E263Q 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC FGA 2243 genome.wustl.edu 37 4 155505632 155505632 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 155505632 155505632 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.2245 p.E749Q 0.993 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC FGD6 55785 genome.wustl.edu 37 12 95535261 95535261 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 95535261 95535261 C G SNP FGD6 ENST00000343958 human ensembl 70_37 -1 known missense c.2740 p.E914Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC FGF17 8822 genome.wustl.edu 37 8 21904123 21904123 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 21904123 21904123 G C SNP FGF17 ENST00000359441 human ensembl 70_37 +1 known missense c.336 p.K112N 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF17 HGNC FGF2 2247 genome.wustl.edu 37 4 123748407 123748407 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 123748407 123748407 C G SNP FGF2 ENST00000264498 human ensembl 70_37 +1 known missense c.477 p.F159L 1.000 superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF2 HGNC FIG4 9896 genome.wustl.edu 37 6 110037666 110037666 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 110037666 110037666 G A SNP FIG4 ENST00000230124 human ensembl 70_37 +1 known missense c.184 p.E62K 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC FILIP1L 11259 genome.wustl.edu 37 3 99569565 99569565 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 99569565 99569565 G C SNP FILIP1L ENST00000354552 human ensembl 70_37 -1 known missense c.955 p.Q319E 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC FIP1L1 81608 genome.wustl.edu 37 4 54319101 54319101 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 54319101 54319101 C T SNP FIP1L1 ENST00000337488 human ensembl 70_37 +1 known missense c.1300 p.L434F 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC FKBP4 2288 genome.wustl.edu 37 12 2908402 2908402 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 2908402 2908402 C G SNP FKBP4 ENST00000001008 human ensembl 70_37 +1 known silent c.663 p.L221 0.999 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC FKBP5 2289 genome.wustl.edu 37 6 35587911 35587911 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 35587911 35587911 C G SNP FKBP5 ENST00000337746 human ensembl 70_37 -1 known missense c.391 p.E131Q 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC FLG2 388698 genome.wustl.edu 37 1 152329907 152329907 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152329907 152329907 C G SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.355 p.E119Q 0.990 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FLNC 2318 genome.wustl.edu 37 7 128481359 128481359 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 128481359 128481359 G C SNP FLNC ENST00000325888 human ensembl 70_37 +1 known missense c.1949 p.R650P 0.997 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC FMO5 2330 genome.wustl.edu 37 1 146687380 146687380 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 146687380 146687380 C G SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known missense c.268 p.E90Q 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC FMR1NB 158521 genome.wustl.edu 37 X 147090178 147090178 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 147090178 147090178 C G SNP FMR1NB ENST00000370467 human ensembl 70_37 +1 known missense c.579 p.I193M 0.000 NULL superfamily_P_trefoil - no_errors FMR1NB HGNC FNTA 2339 genome.wustl.edu 37 8 42927367 42927367 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 42927367 42927367 C G SNP FNTA ENST00000302279 human ensembl 70_37 +1 known missense c.550 p.Q184E 1.000 pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC FOLR1 2348 genome.wustl.edu 37 11 71903284 71903284 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 71903284 71903284 C T SNP FOLR1 ENST00000312293 human ensembl 70_37 +1 known nonsense c.67 p.Q23* 0.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC FOLR1 2348 genome.wustl.edu 37 11 71903325 71903325 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 71903325 71903325 C G SNP FOLR1 ENST00000312293 human ensembl 70_37 +1 known silent c.108 p.V36 0.990 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR1 HGNC FOXD3 27022 genome.wustl.edu 37 1 63789491 63789491 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 63789491 63789491 G C SNP FOXD3 ENST00000371116 human ensembl 70_37 +1 known missense c.762 p.Q254H 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD3 HGNC FOXK1 221937 genome.wustl.edu 37 7 4780530 4780530 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 4780530 4780530 G A SNP FOXK1 ENST00000328914 human ensembl 70_37 +1 known missense c.622 p.E208K 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC FOXRED2 80020 genome.wustl.edu 37 22 36889851 36889851 + Splice_Site SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 36889851 36889851 C T SNP FOXRED2 ENST00000216187 human ensembl 70_37 -1 known splice_site c.1625-1 e7-1 1.000 - - - no_errors FOXRED2 HGNC FRMPD3 84443 genome.wustl.edu 37 X 106844953 106844953 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 106844953 106844953 G C SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known missense c.3783 p.Q1261H 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC FSTL5 56884 genome.wustl.edu 37 4 162680668 162680668 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 162680668 162680668 C T SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.622 p.E208K 0.984 pfscan_EF_HAND_2 pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC FTL 2512 genome.wustl.edu 37 19 49469965 49469965 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49469965 49469965 C G SNP FTL ENST00000331825 human ensembl 70_37 +1 known missense c.501 p.F167L 0.657 superfamily_Ferritin/RNR-like pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTL HGNC GABARAPL2 11345 genome.wustl.edu 37 16 75611123 75611123 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 75611123 75611123 C G SNP GABARAPL2 ENST00000565985 human ensembl 70_37 +1 known rna NULL NULL 0.037 - - - no_errors GABARAPL2 HGNC GABPB1 2553 genome.wustl.edu 37 15 50596276 50596276 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 50596276 50596276 C G SNP GABPB1 ENST00000220429 human ensembl 70_37 -1 known missense c.163 p.E55Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB1 HGNC GABRR1 2569 genome.wustl.edu 37 6 89895170 89895170 + Splice_Site SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 89895170 89895170 C T SNP GABRR1 ENST00000454853 human ensembl 70_37 -1 known splice_site c.656-1 e7-1 1.000 - - - no_errors GABRR1 HGNC GALNT14 79623 genome.wustl.edu 37 2 31152319 31152319 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 31152319 31152319 C G SNP GALNT14 ENST00000349752 human ensembl 70_37 -1 known missense c.1093 p.E365Q 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC GALNTL5 168391 genome.wustl.edu 37 7 151711802 151711802 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 151711802 151711802 G A SNP GALNTL5 ENST00000392800 human ensembl 70_37 +1 known missense c.1100 p.G367E 0.000 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC GALR2 8811 genome.wustl.edu 37 17 74072990 74072990 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74072990 74072990 C G SNP GALR2 ENST00000329003 human ensembl 70_37 +1 known silent c.642 p.L214 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt - no_errors GALR2 HGNC GAPDH 2597 genome.wustl.edu 37 12 6646823 6646823 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 6646823 6646823 G T SNP GAPDH ENST00000229239 human ensembl 70_37 +1 known missense c.599 p.R200L 1.000 pfam_GlycerAld_3-P_DH_cat,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC GATA1 2623 genome.wustl.edu 37 X 48650370 48650370 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 48650370 48650370 G A SNP GATA1 ENST00000376670 human ensembl 70_37 +1 known missense c.340 p.E114K 0.962 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC GATAD2B 57459 genome.wustl.edu 37 1 153784602 153784602 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 153784602 153784602 C G SNP GATAD2B ENST00000368655 human ensembl 70_37 -1 known missense c.1426 p.E476Q 1.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2B HGNC GDF5 8200 genome.wustl.edu 37 20 34022041 34022041 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 34022041 34022041 C T SNP GDF5 ENST00000374369 human ensembl 70_37 -1 known missense c.1172 p.R391Q 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC GDF9 2661 genome.wustl.edu 37 5 132197395 132197395 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 132197395 132197395 C T SNP GDF9 ENST00000296875 human ensembl 70_37 -1 known silent c.1251 p.P417 0.161 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC GDPD2 54857 genome.wustl.edu 37 X 69652906 69652906 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 69652906 69652906 G A SNP GDPD2 ENST00000453994 human ensembl 70_37 +1 known silent c.1743 p.L581 0.999 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC GEMIN4 50628 genome.wustl.edu 37 17 648334 648334 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 648334 648334 G C SNP GEMIN4 ENST00000319004 human ensembl 70_37 -1 known missense c.2949 p.F983L 1.000 NULL NULL - no_errors GEMIN4 HGNC GHDC 84514 genome.wustl.edu 37 17 40342259 40342259 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 40342259 40342259 C T SNP GHDC ENST00000301671 human ensembl 70_37 -1 known missense c.1318 p.E440K 1.000 pfam_GH3 pfam_GH3 - no_errors GHDC HGNC GIGYF2 26058 genome.wustl.edu 37 2 233651973 233651973 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 233651973 233651973 G A SNP GIGYF2 ENST00000373566 human ensembl 70_37 +1 known missense c.712 p.E238K 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC GINS3 64785 genome.wustl.edu 37 16 58426654 58426654 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 58426654 58426654 G A SNP GINS3 ENST00000426538 human ensembl 70_37 +1 known missense c.149 p.R50Q 0.102 NULL pfam_GINS_complex - no_errors GINS3 HGNC GJA1 2697 genome.wustl.edu 37 6 121768311 121768311 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 121768311 121768311 G A SNP GJA1 ENST00000282561 human ensembl 70_37 +1 known silent c.318 p.L106 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC GJA1 2697 genome.wustl.edu 37 6 121768436 121768436 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 121768436 121768436 G A SNP GJA1 ENST00000282561 human ensembl 70_37 +1 known missense c.443 p.R148Q 0.995 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC GLIS2 84662 genome.wustl.edu 37 16 4383413 4383413 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 4383413 4383413 G C SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.238 p.D80H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GLIS2 84662 genome.wustl.edu 37 16 4383476 4383476 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 4383476 4383476 G A SNP GLIS2 ENST00000262366 human ensembl 70_37 +1 known missense c.301 p.E101K 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC GLS 2744 genome.wustl.edu 37 2 191769883 191769883 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 191769883 191769883 G A SNP GLS ENST00000320717 human ensembl 70_37 +1 known silent c.969 p.L323 0.982 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC GM2A 2760 genome.wustl.edu 37 5 150632828 150632828 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 150632828 150632828 C T SNP GM2A ENST00000357164 human ensembl 70_37 +1 known silent c.51 p.L17 0.006 NULL smart_MD-2_lipid-recog - no_errors GM2A HGNC GMDS 2762 genome.wustl.edu 37 6 1624425 1624425 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 1624425 1624425 C G SNP GMDS ENST00000380815 human ensembl 70_37 -1 known missense c.1098 p.M366I 1.000 NULL pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC GMPPA 29926 genome.wustl.edu 37 2 220370347 220370347 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 220370347 220370347 C T SNP GMPPA ENST00000373917 human ensembl 70_37 +1 novel missense c.923 p.S308L 0.000 NULL pfam_NTP_transferase,superfamily_Trimer_LpxA-like - no_errors GMPPA HGNC GMPR 2766 genome.wustl.edu 37 6 16295275 16295275 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 16295275 16295275 G C SNP GMPR ENST00000259727 human ensembl 70_37 +1 known missense c.896 p.G299A 1.000 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC GMPS 8833 genome.wustl.edu 37 3 155632226 155632226 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 155632226 155632226 C T SNP GMPS ENST00000496455 human ensembl 70_37 +1 known missense c.905 p.S302F 1.000 pfam_NAD/GMP_synthase,pfam_tRNA-specific_2-thiouridylase pfam_GATASE_1,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC GNB3 2784 genome.wustl.edu 37 12 6954849 6954849 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 6954849 6954849 G A SNP GNB3 ENST00000229264 human ensembl 70_37 +1 known missense c.799 p.E267K 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC GNL1 2794 genome.wustl.edu 37 6 30522575 30522575 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 30522575 30522575 G A SNP GNL1 ENST00000376621 human ensembl 70_37 -1 known missense c.494 p.S165F 0.996 NULL pfam_GTP_binding_domain - no_errors GNL1 HGNC GNPTAB 79158 genome.wustl.edu 37 12 102158356 102158356 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 102158356 102158356 C A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.2339 p.G780V 0.000 pfam_DMAP1-bd pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC GOLGB1 2804 genome.wustl.edu 37 3 121410890 121410890 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 121410890 121410890 C G SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.7306 p.D2436H 0.227 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GON4L 54856 genome.wustl.edu 37 1 155735069 155735069 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155735069 155735069 C T SNP GON4L ENST00000368331 human ensembl 70_37 -1 known missense c.4195 p.E1399K 0.052 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GP1BA 2811 genome.wustl.edu 37 17 4836334 4836334 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 4836334 4836334 C G SNP GP1BA ENST00000329125 human ensembl 70_37 +1 known silent c.435 p.L145 0.994 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC GPR114 221188 genome.wustl.edu 37 16 57601501 57601501 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 57601501 57601501 C T SNP GPR114 ENST00000340339 human ensembl 70_37 +1 known silent c.819 p.F273 0.696 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC GPR179 440435 genome.wustl.edu 37 17 36485974 36485974 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 36485974 36485974 G A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.3478 p.H1160Y 0.630 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR179 440435 genome.wustl.edu 37 17 36498924 36498924 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 36498924 36498924 G A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.749 p.S250F 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR35 2859 genome.wustl.edu 37 2 241570131 241570131 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 241570131 241570131 C G SNP GPR35 ENST00000438013 human ensembl 70_37 +1 known missense c.855 p.I285M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR35 HGNC GPR64 10149 genome.wustl.edu 37 X 19049108 19049108 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 19049108 19049108 C T SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.352 p.D118N 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC GPR98 84059 genome.wustl.edu 37 5 89940684 89940684 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 89940684 89940684 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.2896 p.E966K 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPRASP1 9737 genome.wustl.edu 37 X 101909941 101909941 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 101909941 101909941 C G SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known nonsense c.1100 p.S367* 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC GPRC6A 222545 genome.wustl.edu 37 6 117113846 117113846 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 117113846 117113846 C T SNP GPRC6A ENST00000310357 human ensembl 70_37 -1 known missense c.2240 p.G747E 0.998 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_vmron_rcpt_2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC GRAMD2 196996 genome.wustl.edu 37 15 72460080 72460080 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 72460080 72460080 G C SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known missense c.369 p.I123M 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC GRID1 2894 genome.wustl.edu 37 10 87484191 87484191 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 87484191 87484191 C G SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known missense c.1776 p.Q592H 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC GRIK1 2897 genome.wustl.edu 37 21 31045341 31045341 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 31045341 31045341 C G SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known missense c.688 p.D230H 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC GRIK4 2900 genome.wustl.edu 37 11 120776193 120776193 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 120776193 120776193 G C SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known silent c.1467 p.L489 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC GRIN2B 2904 genome.wustl.edu 37 12 13768193 13768193 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 13768193 13768193 C T SNP GRIN2B ENST00000279593 human ensembl 70_37 -1 known missense c.1509 p.M503I 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC GRIP1 23426 genome.wustl.edu 37 12 66773175 66773175 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 66773175 66773175 C T SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.2506 p.D836N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GSE1 23199 genome.wustl.edu 37 16 85689362 85689362 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 85689362 85689362 G A SNP GSE1 ENST00000253458 human ensembl 70_37 +1 known silent c.828 p.L276 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC GSTA3 2940 genome.wustl.edu 37 6 52761709 52761709 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 52761709 52761709 G A SNP GSTA3 ENST00000211122 human ensembl 70_37 -1 known silent c.564 p.I188 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA3 HGNC GSTP1 2950 genome.wustl.edu 37 11 67353985 67353985 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 67353985 67353985 C G SNP GSTP1 ENST00000398606 human ensembl 70_37 +1 known silent c.570 p.L190 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi - no_errors GSTP1 HGNC GSTT1 2952 genome.wustl.edu 37 22 24384148 24384148 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 24384148 24384148 G C SNP GSTT1 ENST00000248935 human ensembl 70_37 -1 known missense c.84 p.F28L 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT1 HGNC GTDC2 84892 genome.wustl.edu 37 3 43122913 43122913 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 43122913 43122913 G A SNP GTDC2 ENST00000344697 human ensembl 70_37 -1 known missense c.11 p.S4L 0.919 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors GTDC2 HGNC GTF2IRD1 9569 genome.wustl.edu 37 7 74016760 74016760 + Nonstop_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 74016760 74016760 G C SNP GTF2IRD1 ENST00000265755 human ensembl 70_37 +1 known nonstop c.2880 p.*960Y 1.000 NULL pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC GTF3C4 9329 genome.wustl.edu 37 9 135546243 135546243 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 135546243 135546243 C T SNP GTF3C4 ENST00000372146 human ensembl 70_37 +1 known silent c.258 p.I86 0.998 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC GTPBP2 54676 genome.wustl.edu 37 6 43591477 43591477 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 43591477 43591477 G C SNP GTPBP2 ENST00000307126 human ensembl 70_37 -1 known missense c.1292 p.S431C 1.000 superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP2 HGNC GUCY2C 2984 genome.wustl.edu 37 12 14836077 14836077 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 14836077 14836077 G C SNP GUCY2C ENST00000261170 human ensembl 70_37 -1 known missense c.510 p.F170L 1.000 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC GUSB 2990 genome.wustl.edu 37 7 65440021 65440021 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 65440021 65440021 G A SNP GUSB ENST00000304895 human ensembl 70_37 -1 known missense c.950 p.S317F 0.046 pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC GUSB 2990 genome.wustl.edu 37 7 65440036 65440036 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 65440036 65440036 G A SNP GUSB ENST00000304895 human ensembl 70_37 -1 known missense c.935 p.S312L 0.001 pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC HAAO 23498 genome.wustl.edu 37 2 43010491 43010491 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 43010491 43010491 C T SNP HAAO ENST00000294973 human ensembl 70_37 -1 known missense c.313 p.E105K 1.000 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC HABP4 22927 genome.wustl.edu 37 9 99250527 99250527 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 99250527 99250527 G C SNP HABP4 ENST00000375249 human ensembl 70_37 +1 known missense c.1156 p.E386Q 0.965 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC HACL1 26061 genome.wustl.edu 37 3 15633186 15633186 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 15633186 15633186 G A SNP HACL1 ENST00000321169 human ensembl 70_37 -1 known missense c.229 p.P77S 1.000 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC HAS3 3038 genome.wustl.edu 37 16 69147371 69147371 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 69147371 69147371 C G SNP HAS3 ENST00000306560 human ensembl 70_37 +1 known missense c.664 p.P222A 1.000 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC HAUS5 23354 genome.wustl.edu 37 19 36104692 36104692 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36104692 36104692 G C SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known missense c.159 p.Q53H 1.000 NULL NULL - no_errors HAUS5 HGNC HAUS5 23354 genome.wustl.edu 37 19 36104782 36104782 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36104782 36104782 G A SNP HAUS5 ENST00000203166 human ensembl 70_37 +1 known silent c.174 p.K58 1.000 NULL NULL - no_errors HAUS5 HGNC HAVCR2 84868 genome.wustl.edu 37 5 156522409 156522409 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 156522409 156522409 G C SNP HAVCR2 ENST00000307851 human ensembl 70_37 -1 known missense c.584 p.S195C 0.016 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors HAVCR2 HGNC HDLBP 3069 genome.wustl.edu 37 2 242186507 242186507 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 242186507 242186507 C G SNP HDLBP ENST00000310931 human ensembl 70_37 -1 known missense c.1782 p.K594N 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC HEATR3 55027 genome.wustl.edu 37 16 50100092 50100092 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 50100092 50100092 C T SNP HEATR3 ENST00000299192 human ensembl 70_37 +1 known missense c.50 p.T17M 0.053 NULL superfamily_ARM-type_fold - no_errors HEATR3 HGNC HEATR5B 54497 genome.wustl.edu 37 2 37306395 37306395 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 37306395 37306395 C T SNP HEATR5B ENST00000233099 human ensembl 70_37 -1 known missense c.206 p.R69Q 0.992 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC HEG1 57493 genome.wustl.edu 37 3 124732322 124732322 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 124732322 124732322 G C SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known missense c.2101 p.L701V 0.011 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC HELQ 113510 genome.wustl.edu 37 4 84368045 84368045 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 84368045 84368045 C T SNP HELQ ENST00000295488 human ensembl 70_37 -1 known silent c.1335 p.V445 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC HELZ2 85441 genome.wustl.edu 37 20 62198468 62198468 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 62198468 62198468 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.2243 p.A748V 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HIRA 7290 genome.wustl.edu 37 22 19349384 19349384 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 19349384 19349384 C G SNP HIRA ENST00000263208 human ensembl 70_37 -1 known missense c.1846 p.E616Q 1.000 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC HIST1H1A 3024 genome.wustl.edu 37 6 26017517 26017517 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26017517 26017517 C G SNP HIST1H1A ENST00000244573 human ensembl 70_37 -1 known missense c.444 p.K148N 0.024 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1A HGNC HIST1H2BI 8346 genome.wustl.edu 37 6 26273432 26273432 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26273432 26273432 G A SNP HIST1H2BI ENST00000377733 human ensembl 70_37 +1 known missense c.229 p.E77K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BI HGNC HIST1H4E 8367 genome.wustl.edu 37 6 26204984 26204984 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26204984 26204984 C G SNP HIST1H4E ENST00000360441 human ensembl 70_37 +1 known missense c.112 p.L38V 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC HIST1H4F 8361 genome.wustl.edu 37 6 26240864 26240864 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 26240864 26240864 G A SNP HIST1H4F ENST00000377745 human ensembl 70_37 +1 known missense c.211 p.V71I 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC HIST2H2AB 317772 genome.wustl.edu 37 1 149859223 149859223 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 149859223 149859223 G C SNP HIST2H2AB ENST00000331128 human ensembl 70_37 -1 known missense c.244 p.R82G 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AB HGNC HIVEP1 3096 genome.wustl.edu 37 6 12125327 12125327 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 12125327 12125327 G C SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.5299 p.D1767H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HJURP 55355 genome.wustl.edu 37 2 234763116 234763116 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 234763116 234763116 C G SNP HJURP ENST00000411486 human ensembl 70_37 -1 known missense c.31 p.E11Q 0.000 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC HLA-A 3105 genome.wustl.edu 37 6 29910587 29910587 + Nonsense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 29910587 29910587 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.127 p.E43* 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HLA-DMB 3109 genome.wustl.edu 37 6 32905079 32905079 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 32905079 32905079 C G SNP HLA-DMB ENST00000418107 human ensembl 70_37 -1 known missense c.492 p.K164N 0.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DMB HGNC HLA-DPB1 3115 genome.wustl.edu 37 6 33054002 33054002 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33054002 33054002 G C SNP HLA-DPB1 ENST00000418931 human ensembl 70_37 +1 known missense c.764 p.R255P 0.000 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DPB1 HGNC HLA-J 3137 genome.wustl.edu 37 6 29974424 29974424 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 29974424 29974424 G A SNP HLA-J ENST00000462773 human ensembl 70_37 +1 known rna NULL NULL 0.432 - - - no_errors HLA-J HGNC HMBOX1 79618 genome.wustl.edu 37 8 28876293 28876293 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 28876293 28876293 G A SNP HMBOX1 ENST00000444075 human ensembl 70_37 +1 known missense c.714 p.M238I 1.000 superfamily_Lambda_DNA-bd_dom pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HMBOX1 HGNC HMCN1 83872 genome.wustl.edu 37 1 185984542 185984542 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 185984542 185984542 G A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.4882 p.E1628K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HMG20B 10362 genome.wustl.edu 37 19 3576258 3576258 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 3576258 3576258 G C SNP HMG20B ENST00000333651 human ensembl 70_37 +1 known splice_site c.473-1 e5-1 1.000 - - - no_errors HMG20B HGNC HMGCS1 3157 genome.wustl.edu 37 5 43294235 43294235 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 43294235 43294235 C G SNP HMGCS1 ENST00000325110 human ensembl 70_37 -1 known missense c.1106 p.R369T 1.000 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS1 HGNC HMMR 3161 genome.wustl.edu 37 5 162902673 162902673 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 162902673 162902673 G A SNP HMMR ENST00000393915 human ensembl 70_37 +1 known silent c.1263 p.L421 0.091 NULL NULL - no_errors HMMR HGNC HMOX1 3162 genome.wustl.edu 37 22 35782729 35782729 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 35782729 35782729 G C SNP HMOX1 ENST00000216117 human ensembl 70_37 +1 known missense c.196 p.E66Q 0.998 pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC HNRNPA1L2 144983 genome.wustl.edu 37 13 53216872 53216872 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 53216872 53216872 G A SNP HNRNPA1L2 ENST00000342657 human ensembl 70_37 +1 known missense c.245 p.R82K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC HORMAD1 84072 genome.wustl.edu 37 1 150671183 150671183 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 150671183 150671183 G A SNP HORMAD1 ENST00000361824 human ensembl 70_37 -1 known nonsense c.1132 p.Q378* 1.000 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC HOXA2 3199 genome.wustl.edu 37 7 27140514 27140514 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 27140514 27140514 G C SNP HOXA2 ENST00000222718 human ensembl 70_37 -1 known missense c.962 p.S321C 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA2 HGNC HPGDS 27306 genome.wustl.edu 37 4 95223384 95223384 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 95223384 95223384 G A SNP HPGDS ENST00000295256 human ensembl 70_37 -1 known silent c.348 p.F116 0.387 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC HRH2 3274 genome.wustl.edu 37 5 175111023 175111023 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 175111023 175111023 G A SNP HRH2 ENST00000377291 human ensembl 70_37 +1 known missense c.787 p.D263N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_recept pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_recept,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC HRNR 388697 genome.wustl.edu 37 1 152191898 152191898 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152191898 152191898 G A SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.2207 p.S736L 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HS6ST2 90161 genome.wustl.edu 37 X 132092453 132092453 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 132092453 132092453 G A SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known missense c.178 p.H60Y 0.999 NULL pfam_Sulfotransferase - no_errors HS6ST2 HGNC HSD17B11 51170 genome.wustl.edu 37 4 88312083 88312083 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 88312083 88312083 C G SNP HSD17B11 ENST00000358290 human ensembl 70_37 -1 known missense c.140 p.G47A 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B11 HGNC HSD17B4 3295 genome.wustl.edu 37 5 118824910 118824910 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 118824910 118824910 G C SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.646 p.E216Q 0.995 prints_Glc/ribitol_DH pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC HSF4 3299 genome.wustl.edu 37 16 67200473 67200473 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67200473 67200473 C T SNP HSF4 ENST00000264009 human ensembl 70_37 +1 known missense c.574 p.L192F 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC HSPG2 3339 genome.wustl.edu 37 1 22159062 22159062 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 22159062 22159062 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known silent c.11133 p.G3711 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC HTR1A 3350 genome.wustl.edu 37 5 63256875 63256875 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 63256875 63256875 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known silent c.672 p.F224 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC HTR1A 3350 genome.wustl.edu 37 5 63257044 63257044 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 63257044 63257044 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known missense c.503 p.S168F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,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_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC HTT 3064 genome.wustl.edu 37 4 3109064 3109064 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 3109064 3109064 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.661 p.E221K 1.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC HTT 3064 genome.wustl.edu 37 4 3182304 3182304 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 3182304 3182304 G A SNP HTT ENST00000355072 human ensembl 70_37 +1 known missense c.4675 p.D1559N 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC HYAL1 3373 genome.wustl.edu 37 3 50337989 50337989 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50337989 50337989 C G SNP HYAL1 ENST00000266031 human ensembl 70_37 -1 known missense c.1233 p.Q411H 0.005 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL1 HGNC HYDIN 54768 genome.wustl.edu 37 16 70863624 70863624 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 70863624 70863624 C G SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.14006 p.W4669S 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC HYDIN 54768 genome.wustl.edu 37 16 71015349 71015349 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 71015349 71015349 C T SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.4452 p.L1484 0.156 NULL superfamily_PapD-like - no_errors HYDIN HGNC ICA1 3382 genome.wustl.edu 37 7 8268241 8268241 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 8268241 8268241 C G SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known missense c.246 p.K82N 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC IFI44 10561 genome.wustl.edu 37 1 79120726 79120726 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 79120726 79120726 G C SNP IFI44 ENST00000370747 human ensembl 70_37 +1 known missense c.522 p.L174F 0.005 NULL pfam_TLDc - no_errors IFI44 HGNC IFRD2 7866 genome.wustl.edu 37 3 50327471 50327471 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50327471 50327471 G A SNP IFRD2 ENST00000336089 human ensembl 70_37 -1 known silent c.933 p.L311 1.000 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC IK 3550 genome.wustl.edu 37 5 140041772 140041772 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140041772 140041772 G A SNP IK ENST00000417647 human ensembl 70_37 +1 known silent c.1620 p.E540 1.000 pfam_RED_C pfam_RED_N,pfam_RED_C - no_errors IK HGNC IKBKAP 8518 genome.wustl.edu 37 9 111641013 111641013 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 111641013 111641013 C T SNP IKBKAP ENST00000374647 human ensembl 70_37 -1 known missense c.3590 p.R1197H 0.996 pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC IKBKAP 8518 genome.wustl.edu 37 9 111668766 111668766 + Splice_Site SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 111668766 111668766 C T SNP IKBKAP ENST00000374647 human ensembl 70_37 -1 known splice_site c.1461-1 e13-1 1.000 - - - no_errors IKBKAP HGNC IKZF1 10320 genome.wustl.edu 37 7 50468297 50468297 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 50468297 50468297 G C SNP IKZF1 ENST00000331340 human ensembl 70_37 +1 known missense c.1532 p.R511P 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC IL15RA 3601 genome.wustl.edu 37 10 6002384 6002384 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 6002384 6002384 G C SNP IL15RA ENST00000379977 human ensembl 70_37 -1 known missense c.529 p.Q177E 0.255 NULL superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors IL15RA HGNC IL25 64806 genome.wustl.edu 37 14 23844999 23844999 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 23844999 23844999 G A SNP IL25 ENST00000329715 human ensembl 70_37 +1 known silent c.444 p.E148 0.003 pfam_Interleukin-17 pfam_Interleukin-17 - no_errors IL25 HGNC IFNL2 282616 genome.wustl.edu 37 19 39760152 39760152 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 39760152 39760152 G A SNP IL28A ENST00000331982 human ensembl 70_37 +1 known missense c.295 p.E99K 0.969 NULL NULL - no_errors IL28A HGNC IL37 27178 genome.wustl.edu 37 2 113676372 113676372 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 113676372 113676372 G A SNP IL37 ENST00000263326 human ensembl 70_37 +1 known missense c.643 p.E215K 0.000 NULL pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA - no_errors IL37 HGNC IL3RA 3563 genome.wustl.edu 37 X 1497563 1497563 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 1497563 1497563 G C SNP IL3RA ENST00000331035 human ensembl 70_37 +1 known missense c.886 p.E296Q 0.004 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC IL5RA 3568 genome.wustl.edu 37 3 3139885 3139885 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 3139885 3139885 G A SNP IL5RA ENST00000256452 human ensembl 70_37 -1 known missense c.457 p.L153F 0.985 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC INO80 54617 genome.wustl.edu 37 15 41275976 41275976 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 41275976 41275976 G A SNP INO80 ENST00000361937 human ensembl 70_37 -1 known silent c.4221 p.V1407 0.998 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC INPP1 3628 genome.wustl.edu 37 2 191233880 191233880 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 191233880 191233880 G A SNP INPP1 ENST00000322522 human ensembl 70_37 +1 known missense c.518 p.G173E 0.998 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors INPP1 HGNC INPP5F 22876 genome.wustl.edu 37 10 121569692 121569692 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 121569692 121569692 C G SNP INPP5F ENST00000361976 human ensembl 70_37 +1 known silent c.1650 p.L550 1.000 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC INTS2 57508 genome.wustl.edu 37 17 59999170 59999170 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 59999170 59999170 C T SNP INTS2 ENST00000444766 human ensembl 70_37 -1 known missense c.475 p.E159K 1.000 NULL NULL - no_errors INTS2 HGNC INTS3 65123 genome.wustl.edu 37 1 153742319 153742319 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 153742319 153742319 C G SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known silent c.2388 p.L796 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC IPO13 9670 genome.wustl.edu 37 1 44424532 44424532 + Missense_Mutation SNP A A C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 44424532 44424532 A C SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known missense c.1999 p.K667Q 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC IQCH 64799 genome.wustl.edu 37 15 67664960 67664960 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 67664960 67664960 C G SNP IQCH ENST00000335894 human ensembl 70_37 +1 known nonsense c.1265 p.S422* 0.001 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC IQGAP2 10788 genome.wustl.edu 37 5 75866443 75866443 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 75866443 75866443 C G SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known silent c.342 p.V114 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC IRF2 3660 genome.wustl.edu 37 4 185340682 185340682 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 185340682 185340682 C G SNP IRF2 ENST00000393593 human ensembl 70_37 -1 known missense c.128 p.R43T 0.991 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC IRF6 3664 genome.wustl.edu 37 1 209969858 209969858 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 209969858 209969858 C T SNP IRF6 ENST00000367021 human ensembl 70_37 -1 known missense c.214 p.D72N 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ITGA7 3679 genome.wustl.edu 37 12 56080064 56080064 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56080064 56080064 G C SNP ITGA7 ENST00000257880 human ensembl 70_37 -1 known missense c.3350 p.S1117C 0.670 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ITGAV 3685 genome.wustl.edu 37 2 187529285 187529285 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 187529285 187529285 C G SNP ITGAV ENST00000261023 human ensembl 70_37 +1 known missense c.1990 p.Q664E 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ITGB3 3690 genome.wustl.edu 37 17 45368382 45368382 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 45368382 45368382 C G SNP ITGB3 ENST00000262017 human ensembl 70_37 +1 known missense c.1188 p.F396L 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB3 HGNC ITGB4 3691 genome.wustl.edu 37 17 73738843 73738843 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73738843 73738843 G C SNP ITGB4 ENST00000200181 human ensembl 70_37 +1 known splice_site c.2962+1 e24+1 1.000 - - - no_errors ITGB4 HGNC ITSN1 6453 genome.wustl.edu 37 21 35147123 35147123 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 35147123 35147123 G A SNP ITSN1 ENST00000381285 human ensembl 70_37 +1 known missense c.1396 p.E466K 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ITSN2 50618 genome.wustl.edu 37 2 24471720 24471720 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 24471720 24471720 G A SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.3152 p.S1051L 0.850 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC JAG1 182 genome.wustl.edu 37 20 10639291 10639291 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 10639291 10639291 G A SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known silent c.519 p.N173 1.000 pfam_DSL,smart_DSL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC JAK1 3716 genome.wustl.edu 37 1 65332606 65332606 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 65332606 65332606 G A SNP JAK1 ENST00000342505 human ensembl 70_37 -1 known silent c.933 p.L311 0.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC JAK2 3717 genome.wustl.edu 37 9 5089755 5089755 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 5089755 5089755 C A SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known missense c.2653 p.Q885K 1.000 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC KAL1 3730 genome.wustl.edu 37 X 8507779 8507779 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 8507779 8507779 G C SNP KAL1 ENST00000262648 human ensembl 70_37 -1 known missense c.1375 p.H459D 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,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_Fibronectin_type3,pfscan_Fibronectin_type3,prints_4-disulphide_core - no_errors KAL1 HGNC KAT6B 23522 genome.wustl.edu 37 10 76788623 76788623 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 76788623 76788623 C T SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known silent c.4041 p.L1347 0.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC KCNA1 3736 genome.wustl.edu 37 12 5020588 5020588 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 5020588 5020588 C T SNP KCNA1 ENST00000382545 human ensembl 70_37 +1 known missense c.44 p.A15V 0.627 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC KCNC1 3746 genome.wustl.edu 37 11 17793718 17793718 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 17793718 17793718 C T SNP KCNC1 ENST00000265969 human ensembl 70_37 +1 known silent c.1077 p.F359 0.992 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC KCNJ14 3770 genome.wustl.edu 37 19 48967909 48967909 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 48967909 48967909 C G SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known missense c.1186 p.L396V 1.000 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 - no_errors KCNJ14 HGNC KCNN3 3782 genome.wustl.edu 37 1 154744507 154744507 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 154744507 154744507 G A SNP KCNN3 ENST00000271915 human ensembl 70_37 -1 known silent c.1392 p.L464 0.065 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC KCNQ2 3785 genome.wustl.edu 37 20 62071057 62071057 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 62071057 62071057 G A SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known missense c.821 p.T274M 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC KCNU1 157855 genome.wustl.edu 37 8 36766906 36766906 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 36766906 36766906 G C SNP KCNU1 ENST00000399881 human ensembl 70_37 +1 known silent c.2184 p.P728 0.987 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC KDM3B 51780 genome.wustl.edu 37 5 137754897 137754897 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 137754897 137754897 C T SNP KDM3B ENST00000314358 human ensembl 70_37 +1 known nonsense c.3691 p.Q1231* 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC KDM5A 5927 genome.wustl.edu 37 12 463316 463316 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 463316 463316 G C SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.955 p.H319D 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KDM5A 5927 genome.wustl.edu 37 12 464397 464397 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 464397 464397 C T SNP KDM5A ENST00000399788 human ensembl 70_37 -1 known missense c.797 p.R266Q 1.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC KIAA0020 9933 genome.wustl.edu 37 9 2837402 2837402 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 2837402 2837402 C G SNP KIAA0020 ENST00000397885 human ensembl 70_37 -1 known splice_site c.83-1 e2-1 1.000 - - - no_errors KIAA0020 HGNC SPIDR 23514 genome.wustl.edu 37 8 48309015 48309015 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 48309015 48309015 C G SNP KIAA0146 ENST00000297423 human ensembl 70_37 +1 known nonsense c.605 p.S202* 0.974 NULL NULL - no_errors KIAA0146 HGNC KIAA0196 9897 genome.wustl.edu 37 8 126051122 126051122 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 126051122 126051122 C G SNP KIAA0196 ENST00000318410 human ensembl 70_37 -1 known missense c.3034 p.E1012Q 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC KIAA0226L 80183 genome.wustl.edu 37 13 46935611 46935611 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 46935611 46935611 G A SNP KIAA0226L ENST00000389908 human ensembl 70_37 -1 known nonsense c.1084 p.Q362* 0.985 NULL NULL - no_errors KIAA0226L HGNC GLTSCR1L 23506 genome.wustl.edu 37 6 42819892 42819892 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 42819892 42819892 G C SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known silent c.1902 p.L634 1.000 NULL NULL - no_errors KIAA0240 HGNC KIAA0368 23392 genome.wustl.edu 37 9 114172371 114172371 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 114172371 114172371 G A SNP KIAA0368 ENST00000259335 human ensembl 70_37 -1 known missense c.3034 p.L1012F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC CLUH 23277 genome.wustl.edu 37 17 2596110 2596110 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 2596110 2596110 C G SNP KIAA0664 ENST00000435359 human ensembl 70_37 -1 known silent c.3159 p.V1053 0.999 NULL superfamily_GSKIP/TIF31_domain - no_errors KIAA0664 HGNC KIAA0922 23240 genome.wustl.edu 37 4 154533509 154533509 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 154533509 154533509 G A SNP KIAA0922 ENST00000409959 human ensembl 70_37 +1 known missense c.3524 p.R1175K 0.966 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5457444 5457444 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 5457444 5457444 G C SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known splice_site c.692-1 e12-1 0.999 - - - no_errors KIAA0947 HGNC KIAA1432 57589 genome.wustl.edu 37 9 5774025 5774025 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 5774025 5774025 G C SNP KIAA1432 ENST00000418622 human ensembl 70_37 +1 known missense c.3814 p.E1272Q 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73959275 73959275 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 73959275 73959275 C G SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.4516 p.E1506Q 1.000 NULL NULL - no_errors KIAA2022 HGNC KIF15 56992 genome.wustl.edu 37 3 44826351 44826351 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 44826351 44826351 G C SNP KIF15 ENST00000326047 human ensembl 70_37 +1 known missense c.376 p.D126H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF15 HGNC KIF16B 55614 genome.wustl.edu 37 20 16354918 16354918 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 16354918 16354918 G A SNP KIF16B ENST00000408042 human ensembl 70_37 -1 known missense c.3334 p.P1112S 0.264 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC KIF21A 55605 genome.wustl.edu 37 12 39760894 39760894 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 39760894 39760894 G A SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.673 p.R225C 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC KIRREL 55243 genome.wustl.edu 37 1 158063415 158063415 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158063415 158063415 C T SNP KIRREL ENST00000368173 human ensembl 70_37 +1 known missense c.1630 p.R544C 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors KIRREL HGNC KLF10 7071 genome.wustl.edu 37 8 103664550 103664550 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 103664550 103664550 C T SNP KLF10 ENST00000285407 human ensembl 70_37 -1 known missense c.112 p.D38N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC KLHL13 90293 genome.wustl.edu 37 X 117053561 117053561 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 117053561 117053561 G C SNP KLHL13 ENST00000539496 human ensembl 70_37 -1 known missense c.502 p.Q168E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC KMO 8564 genome.wustl.edu 37 1 241714342 241714342 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 241714342 241714342 C T SNP KMO ENST00000366559 human ensembl 70_37 +1 known nonsense c.310 p.Q104* 0.998 pfam_mOase_FAD-bd pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC KNTC1 9735 genome.wustl.edu 37 12 123058851 123058851 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 123058851 123058851 C G SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known nonsense c.2306 p.S769* 0.987 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KPNA2 3838 genome.wustl.edu 37 17 66038376 66038376 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 66038376 66038376 G C SNP KPNA2 ENST00000330459 human ensembl 70_37 +1 known missense c.478 p.D160H 0.998 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC KPNA2 3838 genome.wustl.edu 37 17 66040016 66040016 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 66040016 66040016 G A SNP KPNA2 ENST00000330459 human ensembl 70_37 +1 known silent c.993 p.V331 0.884 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC KPNA3 3839 genome.wustl.edu 37 13 50366636 50366636 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 50366636 50366636 C T SNP KPNA3 ENST00000261667 human ensembl 70_37 -1 known missense c.7 p.E3K 1.000 pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC KRT1 3848 genome.wustl.edu 37 12 53072003 53072003 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 53072003 53072003 C G SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.811 p.E271Q 1.000 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC KRT31 3881 genome.wustl.edu 37 17 39550303 39550303 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 39550303 39550303 G C SNP KRT31 ENST00000251645 human ensembl 70_37 -1 known missense c.1216 p.P406A 0.465 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC KRT71 112802 genome.wustl.edu 37 12 52940165 52940165 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 52940165 52940165 C T SNP KRT71 ENST00000267119 human ensembl 70_37 -1 known silent c.1230 p.R410 0.775 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC KRT86 3892 genome.wustl.edu 37 12 52702236 52702236 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 52702236 52702236 C G SNP KRT86 ENST00000293525 human ensembl 70_37 +1 known missense c.1328 p.S443C 0.114 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 Uniprot_genename L3MBTL3 84456 genome.wustl.edu 37 6 130374065 130374065 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 130374065 130374065 C A SNP L3MBTL3 ENST00000361794 human ensembl 70_37 +1 known silent c.511 p.R171 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC LAMA1 284217 genome.wustl.edu 37 18 7009317 7009317 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 7009317 7009317 C T SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known missense c.3922 p.E1308K 0.398 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC LAMA4 3910 genome.wustl.edu 37 6 112439102 112439102 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 112439102 112439102 C G SNP LAMA4 ENST00000230538 human ensembl 70_37 -1 known splice_site c.4822-1 e34-1 1.000 - - - no_errors LAMA4 HGNC LAMTOR1 55004 genome.wustl.edu 37 11 71814247 71814247 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 71814247 71814247 C G SNP LAMTOR1 ENST00000278671 human ensembl 70_37 -1 known missense c.24 p.E8D 0.995 NULL NULL - no_errors LAMTOR1 HGNC LATS1 9113 genome.wustl.edu 37 6 150004621 150004621 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 150004621 150004621 C T SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.1604 p.G535E 0.986 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LCAT 3931 genome.wustl.edu 37 16 67974263 67974263 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67974263 67974263 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known silent c.867 p.F289 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC LCAT 3931 genome.wustl.edu 37 16 67974298 67974298 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67974298 67974298 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known missense c.832 p.P278S 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC LCAT 3931 genome.wustl.edu 37 16 67974359 67974359 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67974359 67974359 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known silent c.771 p.I257 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC LCAT 3931 genome.wustl.edu 37 16 67974364 67974364 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67974364 67974364 G A SNP LCAT ENST00000264005 human ensembl 70_37 -1 known missense c.766 p.P256S 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC LCE1B 353132 genome.wustl.edu 37 1 152785089 152785089 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152785089 152785089 C G SNP LCE1B ENST00000360090 human ensembl 70_37 +1 known missense c.167 p.S56C 0.140 NULL NULL - no_errors LCE1B HGNC LCP2 3937 genome.wustl.edu 37 5 169689718 169689718 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 169689718 169689718 G A SNP LCP2 ENST00000046794 human ensembl 70_37 -1 known nonsense c.847 p.Q283* 0.811 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC LDHB 3945 genome.wustl.edu 37 12 21790116 21790116 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 21790116 21790116 G A SNP LDHB ENST00000350669 human ensembl 70_37 -1 known silent c.726 p.V242 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHB HGNC LEFTY1 10637 genome.wustl.edu 37 1 226075320 226075320 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 226075320 226075320 C G SNP LEFTY1 ENST00000272134 human ensembl 70_37 -1 known missense c.516 p.E172D 0.999 pfam_TGF-b_N,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY1 HGNC LHB 3972 genome.wustl.edu 37 19 49519367 49519367 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49519367 49519367 C T SNP LHB ENST00000221421 human ensembl 70_37 -1 known silent c.384 p.L128 0.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors LHB HGNC LIG1 3978 genome.wustl.edu 37 19 48653381 48653381 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 48653381 48653381 G A SNP LIG1 ENST00000263274 human ensembl 70_37 -1 known missense c.661 p.P221S 0.000 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold-like,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC LILRB4 11006 genome.wustl.edu 37 19 55176613 55176613 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 55176613 55176613 G C SNP LILRB4 ENST00000270452 human ensembl 70_37 +1 known missense c.739 p.G247R 0.000 NULL pfam_Immunoglobulin,pfscan_Ig-like - no_errors LILRB4 HGNC LIMK1 3984 genome.wustl.edu 37 7 73511476 73511476 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 73511476 73511476 G A SNP LIMK1 ENST00000336180 human ensembl 70_37 +1 known missense c.358 p.D120N 0.998 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC LIN28A 79727 genome.wustl.edu 37 1 26752837 26752837 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 26752837 26752837 C G SNP LIN28A ENST00000254231 human ensembl 70_37 +1 known nonsense c.518 p.S173* 0.926 superfamily_Znf_CCHC,smart_Znf_CCHC pfam_CSP_DNA-bd,pfam_Znf_CCHC,superfamily_NA-bd_OB-fold-like,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28A HGNC LIPF 8513 genome.wustl.edu 37 10 90427329 90427329 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 90427329 90427329 C T SNP LIPF ENST00000394375 human ensembl 70_37 +1 known nonsense c.139 p.Q47* 0.993 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC LLGL2 3993 genome.wustl.edu 37 17 73552126 73552126 + Splice_Site SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73552126 73552126 G A SNP LLGL2 ENST00000392550 human ensembl 70_37 +1 known splice_site c.76-1 e2-1 1.000 - - - no_errors LLGL2 HGNC LMBRD1 55788 genome.wustl.edu 37 6 70500257 70500257 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 70500257 70500257 G C SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known missense c.177 p.I59M 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC LMF2 91289 genome.wustl.edu 37 22 50943260 50943260 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 50943260 50943260 C A SNP LMF2 ENST00000474879 human ensembl 70_37 -1 known nonsense c.1408 p.E470* 1.000 pfam_LMF pfam_LMF - no_errors LMF2 HGNC LMX1A 4009 genome.wustl.edu 37 1 165173199 165173199 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 165173199 165173199 G C SNP LMX1A ENST00000294816 human ensembl 70_37 -1 known nonsense c.1067 p.S356* 0.997 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LMX1A HGNC LOC100129213 100129213 genome.wustl.edu 37 10 18292097 18292097 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 18292097 18292097 C T SNP LOC100129213 ENST00000439319 human ensembl 70_37 -1 known rna NULL NULL 0.945 - - - no_errors RP11-110H10.2 Clone_based_vega_gene LOC100133091 100133091 genome.wustl.edu 37 7 76179053 76179053 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 76179053 76179053 C G SNP LOC100133091 ENST00000418663 human ensembl 70_37 +1 known rna NULL NULL 0.960 - - - no_errors AC004980.7 Clone_based_vega_gene LOC100506544 100506544 genome.wustl.edu 37 22 41605531 41605531 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 41605531 41605531 C T SNP LOC100506544 ENST00000441316 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-756G23.5 Clone_based_vega_gene LOC100996348 100996348 genome.wustl.edu 37 8 86354196 86354196 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 86354196 86354196 G A SNP LOC100996348 ENST00000517697 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-317J10.2 Clone_based_vega_gene LOC101060483 101060483 genome.wustl.edu 37 14 19856846 19856846 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 19856846 19856846 C T SNP LOC101060483 ENST00000551334 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195400839 195400839 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 195400839 195400839 C G SNP LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors AC069513.3 Clone_based_vega_gene LOC728558 728558 genome.wustl.edu 37 10 97607200 97607200 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 97607200 97607200 C T SNP LOC728558 ENST00000416301 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-429G19.2 Clone_based_vega_gene LONRF3 79836 genome.wustl.edu 37 X 118143099 118143099 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 118143099 118143099 C G SNP LONRF3 ENST00000371628 human ensembl 70_37 +1 known nonsense c.1541 p.S514* 0.932 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC LPHN1 22859 genome.wustl.edu 37 19 14271452 14271452 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 14271452 14271452 C T SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known missense c.1582 p.D528N 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC LPIN1 23175 genome.wustl.edu 37 2 11964764 11964764 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 11964764 11964764 G A SNP LPIN1 ENST00000449576 human ensembl 70_37 +1 known silent c.2775 p.V925 0.988 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC LPO 4025 genome.wustl.edu 37 17 56324982 56324982 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 56324982 56324982 C G SNP LPO ENST00000262290 human ensembl 70_37 +1 known missense c.308 p.S103C 0.006 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC LRFN1 57622 genome.wustl.edu 37 19 39798861 39798861 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 39798861 39798861 G C SNP LRFN1 ENST00000248668 human ensembl 70_37 -1 known silent c.1728 p.L576 0.943 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN1 HGNC LRFN2 57497 genome.wustl.edu 37 6 40400385 40400385 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 40400385 40400385 G C SNP LRFN2 ENST00000338305 human ensembl 70_37 -1 known silent c.468 p.L156 0.980 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC LRFN5 145581 genome.wustl.edu 37 14 42361085 42361085 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 42361085 42361085 C G SNP LRFN5 ENST00000298119 human ensembl 70_37 +1 known nonsense c.2018 p.S673* 0.997 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC LRP2 4036 genome.wustl.edu 37 2 170063720 170063720 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 170063720 170063720 C T SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known silent c.6510 p.L2170 0.983 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRP5 4041 genome.wustl.edu 37 11 68125245 68125245 + Nonsense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 68125245 68125245 G T SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known nonsense c.616 p.E206* 0.998 smart_LDLR_classB_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC LRP5L 91355 genome.wustl.edu 37 22 25750768 25750768 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 25750768 25750768 G A SNP LRP5L ENST00000402785 human ensembl 70_37 -1 known silent c.450 p.V150 0.652 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC LRRC1 55227 genome.wustl.edu 37 6 53778727 53778727 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 53778727 53778727 C G SNP LRRC1 ENST00000370888 human ensembl 70_37 +1 known missense c.1066 p.Q356E 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC LRRC16B 90668 genome.wustl.edu 37 14 24522998 24522998 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 24522998 24522998 G C SNP LRRC16B ENST00000342740 human ensembl 70_37 +1 known missense c.121 p.E41Q 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC LRRC31 79782 genome.wustl.edu 37 3 169579586 169579586 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 169579586 169579586 G A SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known missense c.191 p.S64L 0.016 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC LRRC31 79782 genome.wustl.edu 37 3 169587429 169587429 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 169587429 169587429 G C SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known nonsense c.167 p.S56* 0.013 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC LRRC37A11P 342666 genome.wustl.edu 37 17 37188224 37188224 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 37188224 37188224 C G SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.108 - - - no_errors LRRC37A11P HGNC LRRC52 440699 genome.wustl.edu 37 1 165514074 165514074 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 165514074 165514074 C T SNP LRRC52 ENST00000294818 human ensembl 70_37 +1 known silent c.541 p.L181 0.999 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC LSM5 23658 genome.wustl.edu 37 7 32529949 32529949 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 32529949 32529949 G A SNP LSM5 ENST00000450169 human ensembl 70_37 -1 known missense c.29 p.S10L 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM5 HGNC LSS 4047 genome.wustl.edu 37 21 47639401 47639401 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 47639401 47639401 G A SNP LSS ENST00000356396 human ensembl 70_37 -1 known silent c.636 p.F212 0.988 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC LTBP4 8425 genome.wustl.edu 37 19 41111433 41111433 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 41111433 41111433 G A SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.766 p.E256K 0.127 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC LYPD3 27076 genome.wustl.edu 37 19 43965792 43965792 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 43965792 43965792 G A SNP LYPD3 ENST00000244333 human ensembl 70_37 -1 known missense c.752 p.S251L 0.000 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC LYST 1130 genome.wustl.edu 37 1 235955247 235955247 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 235955247 235955247 G A SNP LYST ENST00000389793 human ensembl 70_37 -1 known missense c.4295 p.S1432L 0.988 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC LYZL1 84569 genome.wustl.edu 37 10 29578116 29578116 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 29578116 29578116 G A SNP LYZL1 ENST00000375500 human ensembl 70_37 +1 known missense c.70 p.E24K 0.000 NULL pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL1 HGNC M6PR 4074 genome.wustl.edu 37 12 9095088 9095088 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 9095088 9095088 C T SNP M6PR ENST00000000412 human ensembl 70_37 -1 known missense c.635 p.R212Q 1.000 prints_Man_6_P_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt - no_errors M6PR HGNC MAGEA11 4110 genome.wustl.edu 37 X 148798206 148798206 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 148798206 148798206 G A SNP MAGEA11 ENST00000355220 human ensembl 70_37 +1 known missense c.1060 p.E354K 0.013 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC MAGI3 260425 genome.wustl.edu 37 1 114223935 114223935 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 114223935 114223935 G A SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.3305 p.G1102E 1.000 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 MANBA 4126 genome.wustl.edu 37 4 103579009 103579009 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 103579009 103579009 C T SNP MANBA ENST00000226578 human ensembl 70_37 -1 known missense c.1534 p.E512K 0.218 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC MANBA 4126 genome.wustl.edu 37 4 103610745 103610745 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 103610745 103610745 C A SNP MANBA ENST00000226578 human ensembl 70_37 -1 known nonsense c.946 p.E316* 0.763 superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC MAOA 4128 genome.wustl.edu 37 X 43515648 43515648 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 43515648 43515648 G A SNP MAOA ENST00000338702 human ensembl 70_37 +1 known missense c.59 p.G20E 1.000 pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC MAP1A 4130 genome.wustl.edu 37 15 43814640 43814640 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 43814640 43814640 C G SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known silent c.969 p.L323 1.000 NULL NULL - no_errors MAP1A HGNC MAP1B 4131 genome.wustl.edu 37 5 71494088 71494088 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 71494088 71494088 C T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known nonsense c.4906 p.Q1636* 0.999 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP1LC3A 84557 genome.wustl.edu 37 20 33147542 33147542 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 33147542 33147542 G A SNP MAP1LC3A ENST00000360668 human ensembl 70_37 +1 known missense c.206 p.R69H 1.000 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors MAP1LC3A HGNC MAP2 4133 genome.wustl.edu 37 2 210594968 210594968 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 210594968 210594968 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known silent c.5331 p.E1777 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAP3K5 4217 genome.wustl.edu 37 6 136934380 136934380 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 136934380 136934380 G A SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.2293 p.L765F 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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 MAP3K5 HGNC MAP3K8 1326 genome.wustl.edu 37 10 30748220 30748220 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 30748220 30748220 G C SNP MAP3K8 ENST00000263056 human ensembl 70_37 +1 known missense c.1063 p.D355H 0.017 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K8 HGNC MARCO 8685 genome.wustl.edu 37 2 119731963 119731963 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 119731963 119731963 G A SNP MARCO ENST00000327097 human ensembl 70_37 +1 known missense c.515 p.G172E 0.001 pfam_Collagen pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors MARCO HGNC MAST3 23031 genome.wustl.edu 37 19 18254649 18254649 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 18254649 18254649 C G SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.2329 p.L777V 0.117 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC MAST4 375449 genome.wustl.edu 37 5 66438035 66438035 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 66438035 66438035 G C SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.2596 p.E866Q 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC MASTL 84930 genome.wustl.edu 37 10 27454084 27454084 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 27454084 27454084 C T SNP MASTL ENST00000375940 human ensembl 70_37 +1 known silent c.645 p.I215 1.000 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MASTL HGNC MBTD1 54799 genome.wustl.edu 37 17 49284274 49284274 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 49284274 49284274 C G SNP MBTD1 ENST00000415868 human ensembl 70_37 -1 known missense c.579 p.W193C 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors MBTD1 HGNC MC5R 4161 genome.wustl.edu 37 18 13825853 13825853 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 13825853 13825853 C T SNP MC5R ENST00000324750 human ensembl 70_37 +1 known missense c.89 p.S30F 0.023 prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC MCF2L 23263 genome.wustl.edu 37 13 113742677 113742677 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 113742677 113742677 G A SNP MCF2L ENST00000375604 human ensembl 70_37 +1 known missense c.2896 p.E966K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC MCM8 84515 genome.wustl.edu 37 20 5974253 5974253 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 5974253 5974253 C G SNP MCM8 ENST00000378886 human ensembl 70_37 +1 known missense c.2462 p.S821C 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC MECP2 4204 genome.wustl.edu 37 X 153296200 153296200 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 153296200 153296200 G A SNP MECP2 ENST00000303391 human ensembl 70_37 -1 known missense c.1079 p.S360L 0.993 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC MECP2 4204 genome.wustl.edu 37 X 153296613 153296613 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 153296613 153296613 G A SNP MECP2 ENST00000303391 human ensembl 70_37 -1 known silent c.666 p.V222 1.000 superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC MED1 5469 genome.wustl.edu 37 17 37565328 37565328 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 37565328 37565328 G C SNP MED1 ENST00000300651 human ensembl 70_37 -1 known missense c.3146 p.S1049C 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC MED12L 116931 genome.wustl.edu 37 3 151067972 151067972 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 151067972 151067972 G A SNP MED12L ENST00000474524 human ensembl 70_37 +1 known silent c.2271 p.K757 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC MED16 10025 genome.wustl.edu 37 19 881596 881596 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 881596 881596 G C SNP MED16 ENST00000325464 human ensembl 70_37 -1 known silent c.1104 p.L368 0.995 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC MED19 219541 genome.wustl.edu 37 11 57472622 57472622 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 57472622 57472622 C T SNP MED19 ENST00000431606 human ensembl 70_37 -1 known silent c.297 p.K99 1.000 pfam_Mediator_Med19_met pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors MED19 HGNC MEGF10 84466 genome.wustl.edu 37 5 126746176 126746176 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 126746176 126746176 C A SNP MEGF10 ENST00000274473 human ensembl 70_37 +1 known missense c.1013 p.A338E 0.244 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC MFAP4 4239 genome.wustl.edu 37 17 19289684 19289684 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 19289684 19289684 G C SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.251 p.S84W 0.006 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC MFSD10 10227 genome.wustl.edu 37 4 2935543 2935543 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 2935543 2935543 G C SNP MFSD10 ENST00000329687 human ensembl 70_37 -1 known silent c.108 p.L36 0.968 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC MFSD12 126321 genome.wustl.edu 37 19 3557256 3557256 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 3557256 3557256 G C SNP MFSD12 ENST00000398558 human ensembl 70_37 -1 known missense c.146 p.S49W 0.999 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC MFSD8 256471 genome.wustl.edu 37 4 128842679 128842679 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 128842679 128842679 C T SNP MFSD8 ENST00000296468 human ensembl 70_37 -1 known silent c.1350 p.Q450 1.000 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 MFSD8 HGNC MGAT2 4247 genome.wustl.edu 37 14 50088567 50088567 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 50088567 50088567 G C SNP MGAT2 ENST00000305386 human ensembl 70_37 +1 known missense c.581 p.R194T 0.999 pfam_GlcNAc_II pfam_GlcNAc_II - no_errors MGAT2 HGNC MIA2 117153 genome.wustl.edu 37 14 39716772 39716772 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 39716772 39716772 G A SNP MIA2 ENST00000556784 human ensembl 70_37 +1 known missense c.991 p.E331K 0.000 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC MICALL1 85377 genome.wustl.edu 37 22 38323718 38323718 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 38323718 38323718 C T SNP MICALL1 ENST00000215957 human ensembl 70_37 +1 known missense c.1766 p.S589L 0.760 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 MICALL1 HGNC MIER1 57708 genome.wustl.edu 37 1 67423853 67423853 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 67423853 67423853 G A SNP MIER1 ENST00000401041 human ensembl 70_37 +1 known missense c.451 p.D151N 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC MIR135A1 406925 genome.wustl.edu 37 3 52328287 52328287 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 52328287 52328287 C G SNP MIR135A1 ENST00000385191 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR135A1 HGNC MIR22HG 84981 genome.wustl.edu 37 17 1616845 1616845 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 1616845 1616845 C T SNP MIR22HG ENST00000574306 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR22HG HGNC MIR328 442901 genome.wustl.edu 37 16 67236241 67236241 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67236241 67236241 G A SNP MIR328 ENST00000385213 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR328 HGNC MIR518B 574474 genome.wustl.edu 37 19 54206023 54206023 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 54206023 54206023 C G SNP MIR518B ENST00000385127 human ensembl 70_37 +1 known rna NULL NULL 0.039 - - - no_errors MIR518B HGNC MIR596 693181 genome.wustl.edu 37 8 1765426 1765426 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 1765426 1765426 C T SNP MIR596 ENST00000385091 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR596 HGNC MIR663B 100313824 genome.wustl.edu 37 2 133014580 133014580 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 133014580 133014580 C T SNP MIR663B ENST00000408361 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors MIR663B HGNC MKNK1 8569 genome.wustl.edu 37 1 47059806 47059806 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 47059806 47059806 G C SNP MKNK1 ENST00000371946 human ensembl 70_37 -1 known missense c.13 p.Q5E 0.000 NULL 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 MKNK1 HGNC MKRN3 7681 genome.wustl.edu 37 15 23811531 23811531 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 23811531 23811531 C T SNP MKRN3 ENST00000314520 human ensembl 70_37 +1 known missense c.602 p.A201V 0.053 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC KMT2D 8085 genome.wustl.edu 37 12 49425638 49425638 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 49425638 49425638 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.12850 p.Q4284* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151859593 151859593 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 151859593 151859593 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.11069 p.S3690* 0.002 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151860641 151860641 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 151860641 151860641 G T SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known missense c.10021 p.P3341T 0.993 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151919142 151919142 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 151919142 151919142 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3443 p.S1148* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MLLT10 8028 genome.wustl.edu 37 10 22021945 22021945 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 22021945 22021945 C T SNP MLLT10 ENST00000307729 human ensembl 70_37 +1 known missense c.2336 p.S779L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC MLLT3 4300 genome.wustl.edu 37 9 20414065 20414065 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 20414065 20414065 G C SNP MLLT3 ENST00000380338 human ensembl 70_37 -1 known nonsense c.779 p.S260* 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC MLPH 79083 genome.wustl.edu 37 2 238419644 238419644 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 238419644 238419644 C T SNP MLPH ENST00000264605 human ensembl 70_37 +1 known silent c.345 p.I115 0.002 superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MLPH HGNC MMAB 326625 genome.wustl.edu 37 12 110006640 110006640 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 110006640 110006640 C G SNP MMAB ENST00000545712 human ensembl 70_37 -1 known missense c.225 p.R75S 1.000 pfam_AdoCbl_synth_CblAdoTrfase,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_syn_CblAdoTrfase_PduO_N pfam_AdoCbl_synth_CblAdoTrfase,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_syn_CblAdoTrfase_PduO_N - no_errors MMAB HGNC MMEL1 79258 genome.wustl.edu 37 1 2524328 2524328 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 2524328 2524328 C T SNP MMEL1 ENST00000378412 human ensembl 70_37 -1 known missense c.1945 p.E649K 0.020 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC MMGT1 93380 genome.wustl.edu 37 X 135047196 135047196 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 135047196 135047196 G C SNP MMGT1 ENST00000433339 human ensembl 70_37 -1 known nonsense c.578 p.S193* 0.997 NULL pfam_Magnesium_transport - no_errors MMGT1 HGNC MMP16 4325 genome.wustl.edu 37 8 89068395 89068395 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 89068395 89068395 C T SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known nonsense c.1334 p.W445* 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC MMP26 56547 genome.wustl.edu 37 11 5013305 5013305 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 5013305 5013305 G C SNP MMP26 ENST00000300762 human ensembl 70_37 +1 known missense c.707 p.R236T 0.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin - no_errors MMP26 HGNC MN1 4330 genome.wustl.edu 37 22 28146769 28146770 + RNA INS - - GA TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 28146769 28146770 - GA INS MN1 ENST00000497225 human ensembl 70_37 -1 putative rna NULL NULL 0.964:0.985 - - - no_errors MN1 HGNC MON1A 84315 genome.wustl.edu 37 3 49946585 49946585 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49946585 49946585 C T SNP MON1A ENST00000296473 human ensembl 70_37 -1 known silent c.1821 p.V607 1.000 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC MOV10 4343 genome.wustl.edu 37 1 113238053 113238053 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 113238053 113238053 C G SNP MOV10 ENST00000357443 human ensembl 70_37 +1 known missense c.1636 p.P546A 1.000 NULL NULL - no_errors MOV10 HGNC MPP5 64398 genome.wustl.edu 37 14 67799667 67799667 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 67799667 67799667 G A SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known silent c.2022 p.L674 1.000 NULL pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC MRPL18 29074 genome.wustl.edu 37 6 160219111 160219111 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 160219111 160219111 G A SNP MRPL18 ENST00000367034 human ensembl 70_37 +1 known missense c.499 p.E167K 1.000 NULL pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC MRPL35 51318 genome.wustl.edu 37 2 86426645 86426645 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 86426645 86426645 G A SNP MRPL35 ENST00000337109 human ensembl 70_37 +1 known missense c.32 p.R11K 0.066 NULL pfam_Ribosomal_L35 - no_errors MRPL35 HGNC MRRFP1 286423 genome.wustl.edu 37 X 122251339 122251339 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 122251339 122251339 C G SNP MRRFP1 ENST00000435941 human ensembl 70_37 -1 known missense c.271 p.E91Q 1.000 superfamily_Ribosome_recyc_fac_dom pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRFP1 HGNC MRRFP1 286423 genome.wustl.edu 37 X 122251467 122251467 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 122251467 122251467 G C SNP MRRFP1 ENST00000435941 human ensembl 70_37 -1 known nonsense c.143 p.S48* 0.018 NULL pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom - no_errors MRRFP1 HGNC MRVI1 10335 genome.wustl.edu 37 11 10653569 10653569 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 10653569 10653569 C G SNP MRVI1 ENST00000421747 human ensembl 70_37 -1 known missense c.342 p.L114F 1.000 NULL pfam_MRVI1 - no_errors MRVI1 HGNC MSH2 4436 genome.wustl.edu 37 2 47705646 47705646 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 47705646 47705646 C T SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known nonsense c.2446 p.Q816* 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC MSH6 2956 genome.wustl.edu 37 2 48026985 48026985 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 48026985 48026985 G C SNP MSH6 ENST00000234420 human ensembl 70_37 +1 known silent c.1863 p.L621 0.011 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC MSL3 10943 genome.wustl.edu 37 X 11790741 11790741 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 11790741 11790741 G T SNP MSL3 ENST00000312196 human ensembl 70_37 +1 known silent c.1383 p.V461 0.987 pfam_MRG_dom pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC MTFR1 9650 genome.wustl.edu 37 8 66619257 66619257 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 66619257 66619257 C G SNP MTFR1 ENST00000262146 human ensembl 70_37 +1 known missense c.530 p.S177C 0.110 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC MTHFR 4524 genome.wustl.edu 37 1 11855208 11855208 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 11855208 11855208 C T SNP MTHFR ENST00000376583 human ensembl 70_37 -1 known silent c.1101 p.E367 1.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC MTL5 9633 genome.wustl.edu 37 11 68512461 68512461 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 68512461 68512461 G C SNP MTL5 ENST00000255087 human ensembl 70_37 -1 known nonsense c.749 p.S250* 1.000 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC MTSS1 9788 genome.wustl.edu 37 8 125565852 125565852 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 125565852 125565852 C G SNP MTSS1 ENST00000518547 human ensembl 70_37 -1 known missense c.1649 p.R550T 0.837 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC MTTP 4547 genome.wustl.edu 37 4 100542386 100542386 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 100542386 100542386 C T SNP MTTP ENST00000265517 human ensembl 70_37 +1 known silent c.2511 p.F837 0.998 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC MUC13 56667 genome.wustl.edu 37 3 124635176 124635176 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 124635176 124635176 G C SNP MUC13 ENST00000311075 human ensembl 70_37 -1 known missense c.949 p.L317V 0.000 pfam_SEA,superfamily_Growth_fac_rcpt pfam_SEA,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC MUC16 94025 genome.wustl.edu 37 19 9014193 9014193 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 9014193 9014193 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.38455 p.Q12819E 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC17 140453 genome.wustl.edu 37 7 100685909 100685909 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 100685909 100685909 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known missense c.11212 p.L3738V 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC5AC 4586 genome.wustl.edu 37 11 1213058 1213058 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 1213058 1213058 C G SNP MUC5AC ENST00000358378 human ensembl 70_37 +1 putative rna NULL NULL 0.006 - - - no_errors MUC5AC HGNC MUC5B 727897 genome.wustl.edu 37 11 1269780 1269780 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 1269780 1269780 G C SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.11679 p.W3893C 0.008 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUC6 4588 genome.wustl.edu 37 11 1028329 1028329 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 1028329 1028329 G A SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known silent c.1650 p.I550 0.114 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC MUC6 4588 genome.wustl.edu 37 11 1028943 1028943 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 1028943 1028943 G A SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known nonsense c.1399 p.Q467* 0.978 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC MYBPC2 4606 genome.wustl.edu 37 19 50957566 50957566 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50957566 50957566 G C SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known missense c.1954 p.E652Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC MYBPC2 4606 genome.wustl.edu 37 19 50962466 50962466 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50962466 50962466 C T SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.2694 p.F898 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC MYH13 8735 genome.wustl.edu 37 17 10210315 10210315 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 10210315 10210315 C G SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.5236 p.E1746Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYH15 22989 genome.wustl.edu 37 3 108189047 108189047 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 108189047 108189047 C G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.1456 p.E486Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH3 4621 genome.wustl.edu 37 17 10558218 10558218 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 10558218 10558218 G A SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.164 p.S55F 0.004 pfam_Myosin_N pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC MYH9 4627 genome.wustl.edu 37 22 36684429 36684429 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 36684429 36684429 C A SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known nonsense c.4801 p.E1601* 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYH9 4627 genome.wustl.edu 37 22 36710324 36710324 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 36710324 36710324 C G SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known missense c.1420 p.E474Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC MYLK4 340156 genome.wustl.edu 37 6 2749514 2749514 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 2749514 2749514 C G SNP MYLK4 ENST00000268446 human ensembl 70_37 -1 known missense c.15 p.K5N 0.998 NULL 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 MYLK4 HGNC MYO10 4651 genome.wustl.edu 37 5 16701893 16701893 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 16701893 16701893 C T SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.2611 p.E871K 0.820 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC MYO1A 4640 genome.wustl.edu 37 12 57433069 57433069 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 57433069 57433069 G C SNP MYO1A ENST00000476795 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors MYO1A HGNC MYO1G 64005 genome.wustl.edu 37 7 45015178 45015178 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 45015178 45015178 G C SNP MYO1G ENST00000258787 human ensembl 70_37 -1 known missense c.469 p.H157D 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC MYO9A 4649 genome.wustl.edu 37 15 72231235 72231235 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 72231235 72231235 G C SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known missense c.2336 p.S779C 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC MYOT 9499 genome.wustl.edu 37 5 137219244 137219244 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 137219244 137219244 G A SNP MYOT ENST00000239926 human ensembl 70_37 +1 known missense c.988 p.G330R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYOT HGNC NACA 4666 genome.wustl.edu 37 12 57107411 57107411 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 57107411 57107411 C T SNP NACA ENST00000547914 human ensembl 70_37 -1 known missense c.146 p.G49E 1.000 NULL NULL - no_errors NACA HGNC NASP 4678 genome.wustl.edu 37 1 46073526 46073526 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 46073526 46073526 G C SNP NASP ENST00000402363 human ensembl 70_37 +1 known missense c.949 p.E317Q 0.662 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC NBEAL1 65065 genome.wustl.edu 37 2 204075737 204075737 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 204075737 204075737 C G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.7755 p.I2585M 0.709 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47042572 47042572 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 47042572 47042572 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.4387 p.E1463K 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC NBR1 4077 genome.wustl.edu 37 17 41345409 41345409 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 41345409 41345409 G C SNP NBR1 ENST00000341165 human ensembl 70_37 +1 known missense c.1278 p.K426N 1.000 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC NCAM2 4685 genome.wustl.edu 37 21 22707864 22707864 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 22707864 22707864 G C SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.777 p.L259F 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC NCAPD2 9918 genome.wustl.edu 37 12 6639978 6639978 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 6639978 6639978 C G SNP NCAPD2 ENST00000315579 human ensembl 70_37 +1 known missense c.3959 p.S1320C 0.000 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC NCAPD3 23310 genome.wustl.edu 37 11 134027950 134027950 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 134027950 134027950 C A SNP NCAPD3 ENST00000534548 human ensembl 70_37 -1 known silent c.4047 p.L1349 1.000 pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC NCAPD3 23310 genome.wustl.edu 37 11 134047138 134047138 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 134047138 134047138 G A SNP NCAPD3 ENST00000534548 human ensembl 70_37 -1 known silent c.2997 p.L999 0.624 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC NCAPH2 29781 genome.wustl.edu 37 22 50957693 50957693 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 50957693 50957693 G C SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.805 p.E269Q 0.016 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC NCKAP1L 3071 genome.wustl.edu 37 12 54925340 54925340 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 54925340 54925340 G C SNP NCKAP1L ENST00000293373 human ensembl 70_37 +1 known missense c.2670 p.L890F 0.797 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC NCOR1 9611 genome.wustl.edu 37 17 16021223 16021223 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 16021223 16021223 G A SNP NCOR1 ENST00000268712 human ensembl 70_37 -1 known silent c.2034 p.L678 0.987 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC NCSTN 23385 genome.wustl.edu 37 1 160326680 160326680 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 160326680 160326680 G C SNP NCSTN ENST00000491390 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NCSTN HGNC NDST2 8509 genome.wustl.edu 37 10 75568002 75568002 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 75568002 75568002 G A SNP NDST2 ENST00000309979 human ensembl 70_37 -1 known missense c.145 p.P49S 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC NDST3 9348 genome.wustl.edu 37 4 119161697 119161697 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 119161697 119161697 G C SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.2137 p.D713H 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC NDUFA5 4698 genome.wustl.edu 37 7 123182233 123182233 + Frame_Shift_Del DEL C C - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 123182233 123182233 C - DEL NDUFA5 ENST00000355749 human ensembl 70_37 -1 known frame_shift_del c.291 p.W97fs 1.000 NULL pfam_ETC_CI_29_9 - no_errors NDUFA5 HGNC NDUFB2 4708 genome.wustl.edu 37 7 140404746 140404746 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 140404746 140404746 C G SNP NDUFB2 ENST00000464564 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors NDUFB2 HGNC NEK4 6787 genome.wustl.edu 37 3 52785972 52785972 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 52785972 52785972 G C SNP NEK4 ENST00000233027 human ensembl 70_37 -1 known missense c.1344 p.I448M 0.533 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC NEK5 341676 genome.wustl.edu 37 13 52657447 52657447 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 52657447 52657447 C G SNP NEK5 ENST00000355568 human ensembl 70_37 -1 known missense c.1521 p.K507N 0.854 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC NEK5 341676 genome.wustl.edu 37 13 52667254 52667254 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 52667254 52667254 G A SNP NEK5 ENST00000355568 human ensembl 70_37 -1 known nonsense c.1144 p.Q382* 0.105 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC NSMF 26012 genome.wustl.edu 37 9 140349726 140349726 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 140349726 140349726 C T SNP NELF ENST00000371475 human ensembl 70_37 -1 known silent c.744 p.R248 1.000 NULL NULL - no_errors NELF HGNC NEO1 4756 genome.wustl.edu 37 15 73562772 73562772 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 73562772 73562772 C T SNP NEO1 ENST00000261908 human ensembl 70_37 +1 known missense c.2834 p.A945V 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC NETO1 81832 genome.wustl.edu 37 18 70417733 70417733 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 70417733 70417733 G A SNP NETO1 ENST00000327305 human ensembl 70_37 -1 known missense c.1105 p.R369C 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC NF2 4771 genome.wustl.edu 37 22 30077525 30077525 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 30077525 30077525 C G SNP NF2 ENST00000338641 human ensembl 70_37 +1 known missense c.1672 p.L558V 0.108 pirsf_ERM,pfam_ERM_C,superfamily_Moesin pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain - no_errors NF2 HGNC NFATC3 4775 genome.wustl.edu 37 16 68156798 68156798 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 68156798 68156798 C G SNP NFATC3 ENST00000346183 human ensembl 70_37 +1 known missense c.1012 p.L338V 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC3 HGNC NFE2L1 4779 genome.wustl.edu 37 17 46135815 46135815 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46135815 46135815 C G SNP NFE2L1 ENST00000362042 human ensembl 70_37 +1 known silent c.1131 p.L377 0.991 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC NFE2L2 4780 genome.wustl.edu 37 2 178095787 178095787 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 178095787 178095787 C G SNP NFE2L2 ENST00000397062 human ensembl 70_37 -1 known missense c.1544 p.R515T 1.000 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC NFYA 4800 genome.wustl.edu 37 6 41060708 41060708 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 41060708 41060708 G A SNP NFYA ENST00000341376 human ensembl 70_37 +1 known missense c.772 p.E258K 1.000 NULL pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB - no_errors NFYA HGNC NIN 51199 genome.wustl.edu 37 14 51192747 51192747 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 51192747 51192747 C T SNP NIN ENST00000245441 human ensembl 70_37 -1 known missense c.6116 p.R2039Q 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC NIPAL2 79815 genome.wustl.edu 37 8 99208193 99208193 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 99208193 99208193 G A SNP NIPAL2 ENST00000341166 human ensembl 70_37 -1 known silent c.921 p.L307 0.819 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC NIPAL2 79815 genome.wustl.edu 37 8 99264812 99264812 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 99264812 99264812 G A SNP NIPAL2 ENST00000341166 human ensembl 70_37 -1 known silent c.255 p.F85 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC NLGN4X 57502 genome.wustl.edu 37 X 5821162 5821162 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 5821162 5821162 G A SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known silent c.1617 p.L539 0.990 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC NLGN4X 57502 genome.wustl.edu 37 X 6069406 6069406 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 6069406 6069406 G C SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.102 p.I34M 0.004 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC NLRP7 199713 genome.wustl.edu 37 19 55451669 55451669 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 55451669 55451669 G A SNP NLRP7 ENST00000446217 human ensembl 70_37 -1 known missense c.602 p.T201M 0.056 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC NLRP9 338321 genome.wustl.edu 37 19 56223837 56223837 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 56223837 56223837 C T SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known missense c.2621 p.R874K 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC NLRX1 79671 genome.wustl.edu 37 11 119053983 119053983 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 119053983 119053983 C A SNP NLRX1 ENST00000292199 human ensembl 70_37 +1 known silent c.2763 p.L921 0.967 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC NOB1 28987 genome.wustl.edu 37 16 69776286 69776286 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 69776286 69776286 C G SNP NOB1 ENST00000268802 human ensembl 70_37 -1 known silent c.1188 p.R396 0.983 pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PINc_nuc-bd,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC NOD2 64127 genome.wustl.edu 37 16 50745680 50745680 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 50745680 50745680 G A SNP NOD2 ENST00000300589 human ensembl 70_37 +1 known missense c.1858 p.D620N 0.492 NULL pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC NOLC1 9221 genome.wustl.edu 37 10 103916809 103916809 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 103916809 103916809 G C SNP NOLC1 ENST00000405356 human ensembl 70_37 +1 known missense c.154 p.D52H 1.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC NOP58 51602 genome.wustl.edu 37 2 203147126 203147126 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 203147126 203147126 G A SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known silent c.228 p.L76 0.944 NULL pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC NOS2 4843 genome.wustl.edu 37 17 26108115 26108115 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 26108115 26108115 G A SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known nonsense c.811 p.Q271* 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC NOSIP 51070 genome.wustl.edu 37 19 50059841 50059841 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50059841 50059841 C G SNP NOSIP ENST00000391853 human ensembl 70_37 -1 known silent c.690 p.L230 1.000 pirsf_Nitric_oxide_synth-interacting pirsf_Nitric_oxide_synth-interacting - no_errors NOSIP HGNC NOTCH1 4851 genome.wustl.edu 37 9 139397773 139397773 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139397773 139397773 G A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known silent c.5028 p.V1676 0.972 pfam_Notch_NODP_dom,pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139418380 139418380 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139418380 139418380 G A SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known silent c.192 p.L64 0.997 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120458064 120458064 + Missense_Mutation SNP A A C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 120458064 120458064 A C SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.7281 p.S2427R 0.994 pirsf_Notch,pfam_DUF3454_notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC NOX3 50508 genome.wustl.edu 37 6 155750143 155750143 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 155750143 155750143 C T SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known missense c.930 p.M310I 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC NPHS1 4868 genome.wustl.edu 37 19 36330458 36330458 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36330458 36330458 G A SNP NPHS1 ENST00000378910 human ensembl 70_37 -1 known missense c.2867 p.S956F 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NPHS1 HGNC NPY1R 4886 genome.wustl.edu 37 4 164246583 164246583 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 164246583 164246583 G A SNP NPY1R ENST00000296533 human ensembl 70_37 -1 known missense c.1027 p.R343W 0.998 prints_NPY1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC NR2E1 7101 genome.wustl.edu 37 6 108497812 108497812 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 108497812 108497812 C T SNP NR2E1 ENST00000368986 human ensembl 70_37 +1 known missense c.365 p.S122L 0.726 superfamily_Nucl_hormone_rcpt_ligand-bd 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC NR5A2 2494 genome.wustl.edu 37 1 200012937 200012937 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 200012937 200012937 G A SNP NR5A2 ENST00000367362 human ensembl 70_37 +1 known missense c.238 p.E80K 1.000 pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC NSDHL 50814 genome.wustl.edu 37 X 152031145 152031145 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 152031145 152031145 C G SNP NSDHL ENST00000370274 human ensembl 70_37 +1 known silent c.420 p.L140 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC NSUN5P2 260294 genome.wustl.edu 37 7 72419308 72419308 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 72419308 72419308 C G SNP NSUN5P2 ENST00000388955 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors NSUN5P2 HGNC NT5C2 22978 genome.wustl.edu 37 10 104859772 104859772 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 104859772 104859772 C T SNP NT5C2 ENST00000343289 human ensembl 70_37 -1 known missense c.544 p.E182K 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC NUAK1 9891 genome.wustl.edu 37 12 106460917 106460917 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 106460917 106460917 G A SNP NUAK1 ENST00000261402 human ensembl 70_37 -1 known missense c.1649 p.S550F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NUAK1 HGNC NUCB1 4924 genome.wustl.edu 37 19 49425609 49425609 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49425609 49425609 G C SNP NUCB1 ENST00000263273 human ensembl 70_37 +1 known missense c.1314 p.Q438H 0.994 NULL pfscan_EF_HAND_2 - no_errors NUCB1 HGNC NUDT14 256281 genome.wustl.edu 37 14 105643316 105643316 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 105643316 105643316 C T SNP NUDT14 ENST00000392568 human ensembl 70_37 -1 known silent c.174 p.V58 0.999 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase - no_errors NUDT14 HGNC NUP210L 91181 genome.wustl.edu 37 1 154000067 154000067 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 154000067 154000067 C G SNP NUP210L ENST00000368559 human ensembl 70_37 -1 known missense c.3862 p.E1288Q 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC NWD1 284434 genome.wustl.edu 37 19 16926106 16926106 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 16926106 16926106 C G SNP NWD1 ENST00000339803 human ensembl 70_37 +1 known nonsense c.4256 p.S1419* 0.040 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ODF2 4957 genome.wustl.edu 37 9 131262372 131262372 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 131262372 131262372 G T SNP ODF2 ENST00000372796 human ensembl 70_37 +1 known silent c.2328 p.L776 0.943 NULL NULL - no_errors ODF2 HGNC OGDH 4967 genome.wustl.edu 37 7 44715759 44715759 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 44715759 44715759 G C SNP OGDH ENST00000443864 human ensembl 70_37 +1 known missense c.1217 p.R406T 0.000 NULL pfam_DH_E1 - no_errors OGDH HGNC OGDHL 55753 genome.wustl.edu 37 10 50952795 50952795 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 50952795 50952795 C T SNP OGDHL ENST00000374103 human ensembl 70_37 -1 known missense c.1633 p.E545K 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC OLA1 29789 genome.wustl.edu 37 2 175094174 175094174 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 175094174 175094174 G C SNP OLA1 ENST00000284719 human ensembl 70_37 -1 known missense c.107 p.S36C 1.000 pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC OLFM2 93145 genome.wustl.edu 37 19 9968420 9968420 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 9968420 9968420 C T SNP OLFM2 ENST00000264833 human ensembl 70_37 -1 known missense c.331 p.D111N 0.995 pfam_Noelin-1 pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC OPN1MW 2652 genome.wustl.edu 37 X 153461460 153461460 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 153461460 153461460 G A SNP OPN1MW ENST00000369935 human ensembl 70_37 +1 known missense c.1024 p.D342N 1.000 prints_Opsin_red/grn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW HGNC OPN1SW 611 genome.wustl.edu 37 7 128414594 128414594 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 128414594 128414594 G A SNP OPN1SW ENST00000249389 human ensembl 70_37 -1 known silent c.645 p.L215 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC OR10G2 26534 genome.wustl.edu 37 14 22102067 22102067 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 22102067 22102067 C T SNP OR10G2 ENST00000542433 human ensembl 70_37 -1 known silent c.932 p.*311 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC OR10H1 26539 genome.wustl.edu 37 19 15918293 15918293 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 15918293 15918293 C T SNP OR10H1 ENST00000334920 human ensembl 70_37 -1 known silent c.555 p.L185 0.689 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC OR10H3 26532 genome.wustl.edu 37 19 15852820 15852820 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 15852820 15852820 C T SNP OR10H3 ENST00000305892 human ensembl 70_37 +1 known silent c.618 p.V206 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H3 HGNC OR10H3 26532 genome.wustl.edu 37 19 15853003 15853003 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 15853003 15853003 C A SNP OR10H3 ENST00000305892 human ensembl 70_37 +1 known silent c.801 p.L267 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H3 HGNC OR10K2 391107 genome.wustl.edu 37 1 158390018 158390018 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158390018 158390018 C G SNP OR10K2 ENST00000314902 human ensembl 70_37 -1 known missense c.639 p.L213F 0.660 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC OR10K2 391107 genome.wustl.edu 37 1 158390317 158390317 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158390317 158390317 G A SNP OR10K2 ENST00000314902 human ensembl 70_37 -1 known silent c.340 p.L114 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC OR10X1 128367 genome.wustl.edu 37 1 158549183 158549183 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158549183 158549183 G A SNP OR10X1 ENST00000368150 human ensembl 70_37 -1 known silent c.507 p.F169 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10X1 HGNC OR11H12 440153 genome.wustl.edu 37 14 19377637 19377637 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 19377637 19377637 C T SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known missense c.44 p.S15F 0.977 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC OR13C2 392376 genome.wustl.edu 37 9 107367884 107367884 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 107367884 107367884 G C SNP OR13C2 ENST00000542196 human ensembl 70_37 -1 known missense c.25 p.L9V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC OR2G6 391211 genome.wustl.edu 37 1 248685098 248685098 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 248685098 248685098 C G SNP OR2G6 ENST00000343414 human ensembl 70_37 +1 known missense c.151 p.L51V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC OR2T2 401992 genome.wustl.edu 37 1 248616299 248616299 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 248616299 248616299 C G SNP OR2T2 ENST00000342927 human ensembl 70_37 +1 known silent c.201 p.L67 0.787 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC OR2V2 285659 genome.wustl.edu 37 5 180582416 180582416 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 180582416 180582416 G C SNP OR2V2 ENST00000328275 human ensembl 70_37 +1 known missense c.474 p.L158F 0.347 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC OR4A16 81327 genome.wustl.edu 37 11 55111137 55111137 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 55111137 55111137 C G SNP OR4A16 ENST00000314721 human ensembl 70_37 +1 known missense c.461 p.S154C 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC OR51D1 390038 genome.wustl.edu 37 11 4661948 4661948 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 4661948 4661948 G C SNP OR51D1 ENST00000357605 human ensembl 70_37 +1 known missense c.928 p.E310Q 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC OR52D1 390066 genome.wustl.edu 37 11 5510628 5510628 + Missense_Mutation SNP T T A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 5510628 5510628 T A SNP OR52D1 ENST00000322641 human ensembl 70_37 +1 known missense c.692 p.L231H 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC OR52N1 79473 genome.wustl.edu 37 11 5809764 5809764 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 5809764 5809764 C T SNP OR52N1 ENST00000317078 human ensembl 70_37 -1 known missense c.283 p.D95N 0.064 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC OR5T3 390154 genome.wustl.edu 37 11 56020545 56020545 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 56020545 56020545 G C SNP OR5T3 ENST00000303059 human ensembl 70_37 +1 known missense c.870 p.M290I 0.411 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC OR6C65 403282 genome.wustl.edu 37 12 55795184 55795184 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 55795184 55795184 G A SNP OR6C65 ENST00000379665 human ensembl 70_37 +1 known missense c.872 p.R291K 0.968 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C65 HGNC OR6K2 81448 genome.wustl.edu 37 1 158669694 158669694 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 158669694 158669694 G A SNP OR6K2 ENST00000359610 human ensembl 70_37 -1 known missense c.749 p.S250L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC OR6M1 390261 genome.wustl.edu 37 11 123676287 123676287 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 123676287 123676287 C T SNP OR6M1 ENST00000309154 human ensembl 70_37 -1 known silent c.771 p.V257 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC OR6T1 219874 genome.wustl.edu 37 11 123813598 123813598 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 123813598 123813598 C T SNP OR6T1 ENST00000321252 human ensembl 70_37 -1 known silent c.948 p.L316 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ORC4 5000 genome.wustl.edu 37 2 148710052 148710052 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 148710052 148710052 C T SNP ORC4 ENST00000264169 human ensembl 70_37 -1 known missense c.478 p.E160K 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC OS9 10956 genome.wustl.edu 37 12 58112097 58112097 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 58112097 58112097 G A SNP OS9 ENST00000315970 human ensembl 70_37 +1 known missense c.1303 p.E435K 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC OSBPL11 114885 genome.wustl.edu 37 3 125282577 125282577 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 125282577 125282577 C G SNP OSBPL11 ENST00000296220 human ensembl 70_37 -1 known missense c.979 p.E327Q 0.786 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC OSTC 58505 genome.wustl.edu 37 4 109578771 109578771 + Frame_Shift_Del DEL C C - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 109578771 109578771 C - DEL OSTC ENST00000361564 human ensembl 70_37 +1 known frame_shift_del c.399 p.F133fs 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6 - no_errors OSTC HGNC OTOP2 92736 genome.wustl.edu 37 17 72921682 72921682 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 72921682 72921682 C T SNP OTOP2 ENST00000331427 human ensembl 70_37 +1 known silent c.345 p.L115 0.003 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC OVCH2 341277 genome.wustl.edu 37 11 7723819 7723819 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 7723819 7723819 G C SNP OVCH2 ENST00000454689 human ensembl 70_37 -1 known missense c.348 p.D116E 0.084 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH2 HGNC P2RY4 5030 genome.wustl.edu 37 X 69479359 69479359 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 69479359 69479359 G A SNP P2RY4 ENST00000374519 human ensembl 70_37 -1 known missense c.116 p.P39L 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor - no_errors P2RY4 HGNC PABPC3 5042 genome.wustl.edu 37 13 25671015 25671015 + Missense_Mutation SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 25671015 25671015 A G SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known missense c.679 p.S227G 0.980 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC PABPC3 5042 genome.wustl.edu 37 13 25671651 25671651 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 25671651 25671651 C T SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known missense c.1315 p.H439Y 1.000 tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC PABPC4 8761 genome.wustl.edu 37 1 40036806 40036806 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 40036806 40036806 G A SNP PABPC4 ENST00000529216 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors PABPC4 HGNC PACSIN2 11252 genome.wustl.edu 37 22 43289475 43289475 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 43289475 43289475 G T SNP PACSIN2 ENST00000263246 human ensembl 70_37 -1 known missense c.205 p.L69I 1.000 pfam_FCH,smart_FCH,pfscan_FCH pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC PANK3 79646 genome.wustl.edu 37 5 167995799 167995799 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 167995799 167995799 C T SNP PANK3 ENST00000239231 human ensembl 70_37 -1 known missense c.233 p.R78Q 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC PANK4 55229 genome.wustl.edu 37 1 2445807 2445807 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 2445807 2445807 C T SNP PANK4 ENST00000378466 human ensembl 70_37 -1 known silent c.1473 p.L491 0.031 superfamily_DUF89,pirsf_PanK_long pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK - no_errors PANK4 HGNC PANK4 55229 genome.wustl.edu 37 1 2453349 2453349 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 2453349 2453349 G A SNP PANK4 ENST00000502770 human ensembl 70_37 -1 known silent c.156 p.L52 0.000 NULL NULL - no_errors PANK4 HGNC PAPPA2 60676 genome.wustl.edu 37 1 176525786 176525786 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 176525786 176525786 G C SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.328 p.D110H 0.001 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC PAPPA2 60676 genome.wustl.edu 37 1 176664908 176664908 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 176664908 176664908 G A SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.2659 p.D887N 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC PAPPA2 60676 genome.wustl.edu 37 1 176671814 176671814 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 176671814 176671814 C T SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.3308 p.S1103L 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC PARP14 54625 genome.wustl.edu 37 3 122432391 122432391 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 122432391 122432391 C G SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known nonsense c.3740 p.S1247* 1.000 pfam_A1pp,smart_A1pp,pfscan_A1pp pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC PCDH15 65217 genome.wustl.edu 37 10 55698580 55698580 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 55698580 55698580 G C SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known nonsense c.3368 p.S1123* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDH15 65217 genome.wustl.edu 37 10 55955586 55955586 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 55955586 55955586 C T SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known missense c.1162 p.E388K 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC PCDHA10 56139 genome.wustl.edu 37 5 140236799 140236799 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140236799 140236799 C T SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known missense c.1166 p.T389M 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC PCDHA6 56142 genome.wustl.edu 37 5 140208780 140208780 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140208780 140208780 C T SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known silent c.1104 p.V368 0.555 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC PCDHB6 56130 genome.wustl.edu 37 5 140530688 140530688 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140530688 140530688 G A SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known missense c.850 p.D284N 0.009 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 PCDHB6 HGNC PCDHGA3 56112 genome.wustl.edu 37 5 140723925 140723925 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 140723925 140723925 C T SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known silent c.325 p.L109 0.133 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC PCLO 27445 genome.wustl.edu 37 7 82545961 82545961 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82545961 82545961 G A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known nonsense c.11341 p.R3781* 0.768 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCLO 27445 genome.wustl.edu 37 7 82583425 82583425 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82583425 82583425 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.6844 p.E2282K 0.003 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCLO 27445 genome.wustl.edu 37 7 82583502 82583502 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82583502 82583502 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.6767 p.R2256K 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCLO 27445 genome.wustl.edu 37 7 82583509 82583509 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82583509 82583509 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.6760 p.D2254N 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCLO 27445 genome.wustl.edu 37 7 82764504 82764504 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 82764504 82764504 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.2362 p.E788K 0.600 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCNXL2 80003 genome.wustl.edu 37 1 233394913 233394913 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 233394913 233394913 C A SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.695 p.G232V 0.001 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PCSK6 5046 genome.wustl.edu 37 15 101971654 101971654 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 101971654 101971654 C G SNP PCSK6 ENST00000348070 human ensembl 70_37 -1 known missense c.525 p.K175N 0.893 superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC PCYT1A 5130 genome.wustl.edu 37 3 195969477 195969477 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 195969477 195969477 G A SNP PCYT1A ENST00000292823 human ensembl 70_37 -1 known missense c.521 p.S174L 1.000 pfam_Cytidylyltransf pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC PDE6B 5158 genome.wustl.edu 37 4 647895 647895 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 647895 647895 G C SNP PDE6B ENST00000496514 human ensembl 70_37 +1 known silent c.879 p.L293 0.990 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC PDS5A 23244 genome.wustl.edu 37 4 39905724 39905724 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 39905724 39905724 C G SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.1321 p.E441Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC PDZD2 23037 genome.wustl.edu 37 5 32091059 32091059 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 32091059 32091059 C G SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known nonsense c.7505 p.S2502* 0.031 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PDZD3 79849 genome.wustl.edu 37 11 119059398 119059398 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 119059398 119059398 C T SNP PDZD3 ENST00000392817 human ensembl 70_37 +1 known missense c.1307 p.S436L 0.003 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC PDZD4 57595 genome.wustl.edu 37 X 153072748 153072748 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 153072748 153072748 C T SNP PDZD4 ENST00000164640 human ensembl 70_37 -1 known missense c.373 p.E125K 1.000 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC PELO 53918 genome.wustl.edu 37 5 52097658 52097658 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 52097658 52097658 G C SNP PELO ENST00000274311 human ensembl 70_37 +1 known missense c.1142 p.S381T 1.000 NULL pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like - no_errors PELO HGNC PER3 8863 genome.wustl.edu 37 1 7895914 7895914 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 7895914 7895914 G C SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.3280 p.E1094Q 0.001 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC PERP 64065 genome.wustl.edu 37 6 138428294 138428294 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 138428294 138428294 C T SNP PERP ENST00000421351 human ensembl 70_37 -1 known missense c.184 p.E62K 0.007 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors PERP HGNC PFKL 5211 genome.wustl.edu 37 21 45736150 45736150 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 45736150 45736150 G A SNP PFKL ENST00000403390 human ensembl 70_37 +1 known silent c.912 p.L304 0.984 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC PGBD5 79605 genome.wustl.edu 37 1 230492790 230492790 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 230492790 230492790 C T SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known missense c.699 p.M233I 1.000 NULL NULL - no_errors PGBD5 HGNC PGD 5226 genome.wustl.edu 37 1 10464329 10464329 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 10464329 10464329 G C SNP PGD ENST00000270776 human ensembl 70_37 +1 known missense c.442 p.E148Q 1.000 pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC PHACTR2 9749 genome.wustl.edu 37 6 144086865 144086865 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 144086865 144086865 G A SNP PHACTR2 ENST00000440869 human ensembl 70_37 +1 known missense c.1162 p.E388K 0.820 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC PHEX 5251 genome.wustl.edu 37 X 22051181 22051181 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 22051181 22051181 C T SNP PHEX ENST00000379374 human ensembl 70_37 +1 known nonsense c.58 p.R20* 0.011 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC PHF15 23338 genome.wustl.edu 37 5 133909370 133909370 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 133909370 133909370 G C SNP PHF15 ENST00000448712 human ensembl 70_37 +1 known missense c.1518 p.E506D 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC PHF3 23469 genome.wustl.edu 37 6 64395258 64395258 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 64395258 64395258 C G SNP PHF3 ENST00000262043 human ensembl 70_37 +1 known silent c.1635 p.V545 0.988 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC PHKA2 5256 genome.wustl.edu 37 X 18942509 18942509 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 18942509 18942509 G A SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known silent c.1704 p.R568 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC PHPT1 29085 genome.wustl.edu 37 9 139743863 139743863 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139743863 139743863 G C SNP PHPT1 ENST00000492540 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors PHPT1 HGNC PHPT1 29085 genome.wustl.edu 37 9 139744960 139744960 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139744960 139744960 G A SNP PHPT1 ENST00000371661 human ensembl 70_37 +1 known missense c.288 p.M96I 0.000 NULL pfam_Ocnus - no_errors PHPT1 HGNC PHRF1 57661 genome.wustl.edu 37 11 606580 606580 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 606580 606580 C G SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known silent c.1593 p.L531 0.968 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC PHRF1 57661 genome.wustl.edu 37 11 607352 607352 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 607352 607352 C T SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known silent c.1896 p.F632 0.002 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC PHRF1 57661 genome.wustl.edu 37 11 608208 608208 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 608208 608208 G C SNP PHRF1 ENST00000264555 human ensembl 70_37 +1 known missense c.2752 p.E918Q 0.017 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC PI4KAP1 728233 genome.wustl.edu 37 22 20394631 20394631 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 20394631 20394631 G A SNP PI4KAP1 ENST00000416922 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors PI4KAP1 HGNC PIAS3 10401 genome.wustl.edu 37 1 145584227 145584227 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 145584227 145584227 G A SNP PIAS3 ENST00000393045 human ensembl 70_37 +1 known missense c.1378 p.D460N 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS3 HGNC PICK1 9463 genome.wustl.edu 37 22 38469791 38469791 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 38469791 38469791 G C SNP PICK1 ENST00000356976 human ensembl 70_37 +1 known silent c.795 p.L265 1.000 pfam_Arfaptin_homology_dom,pfam_BAR_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_Arfaptin_homology_dom,pfscan_PDZ - no_errors PICK1 HGNC PIK3AP1 118788 genome.wustl.edu 37 10 98405365 98405365 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 98405365 98405365 C A SNP PIK3AP1 ENST00000339364 human ensembl 70_37 -1 known nonsense c.1240 p.E414* 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC PIK3R1 5295 genome.wustl.edu 37 5 67591082 67591082 + Missense_Mutation SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 67591082 67591082 A G SNP PIK3R1 ENST00000396611 human ensembl 70_37 +1 known missense c.1675 p.I559V 1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC PIP5K1A 8394 genome.wustl.edu 37 1 151206945 151206945 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 151206945 151206945 C T SNP PIP5K1A ENST00000368888 human ensembl 70_37 +1 known silent c.912 p.L304 0.254 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC PIR 8544 genome.wustl.edu 37 X 15509413 15509413 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 15509413 15509413 G A SNP PIR ENST00000471725 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIR HGNC PITRM1 10531 genome.wustl.edu 37 10 3199698 3199698 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 3199698 3199698 C T SNP PITRM1 ENST00000380989 human ensembl 70_37 -1 known missense c.1276 p.E426K 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd - no_errors PITRM1 HGNC PITX1 5307 genome.wustl.edu 37 5 134364558 134364558 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134364558 134364558 G T SNP PITX1 ENST00000265340 human ensembl 70_37 -1 known silent c.856 p.R286 0.994 pfam_OAR_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC PITX1 5307 genome.wustl.edu 37 5 134364608 134364608 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134364608 134364608 G C SNP PITX1 ENST00000265340 human ensembl 70_37 -1 known missense c.806 p.S269W 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC PITX1 5307 genome.wustl.edu 37 5 134364763 134364763 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 134364763 134364763 G C SNP PITX1 ENST00000265340 human ensembl 70_37 -1 known silent c.651 p.P217 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX1 HGNC PKD1 5310 genome.wustl.edu 37 16 2164353 2164353 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 2164353 2164353 C T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.2671 p.D891N 0.000 pfam_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKD1L1 168507 genome.wustl.edu 37 7 47880142 47880142 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 47880142 47880142 G A SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known silent c.5469 p.D1823 0.769 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC PKD1L1 168507 genome.wustl.edu 37 7 47942089 47942089 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 47942089 47942089 C T SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known missense c.1951 p.E651K 0.978 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC PKNOX1 5316 genome.wustl.edu 37 21 44430227 44430227 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 44430227 44430227 G C SNP PKNOX1 ENST00000291547 human ensembl 70_37 +1 known missense c.244 p.E82Q 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC PKNOX1 5316 genome.wustl.edu 37 21 44430276 44430276 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 44430276 44430276 G A SNP PKNOX1 ENST00000291547 human ensembl 70_37 +1 known missense c.293 p.R98K 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC PLA2G2A 5320 genome.wustl.edu 37 1 20305077 20305077 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 20305077 20305077 C G SNP PLA2G2A ENST00000496748 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLA2G2A HGNC PLA2G4F 255189 genome.wustl.edu 37 15 42446305 42446305 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 42446305 42446305 G A SNP PLA2G4F ENST00000397272 human ensembl 70_37 -1 known silent c.435 p.F145 0.349 superfamily_C2_Ca/lipid-bd_dom_CaLB 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 PLAG1 5324 genome.wustl.edu 37 8 57079819 57079819 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 57079819 57079819 C T SNP PLAG1 ENST00000316981 human ensembl 70_37 -1 known silent c.486 p.T162 0.936 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC PLCB4 5332 genome.wustl.edu 37 20 9389808 9389808 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 9389808 9389808 C A SNP PLCB4 ENST00000334005 human ensembl 70_37 +1 known nonsense c.1943 p.S648* 1.000 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC PLCG1 5335 genome.wustl.edu 37 20 39794458 39794458 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 39794458 39794458 C G SNP PLCG1 ENST00000244007 human ensembl 70_37 +1 known silent c.1791 p.L597 0.488 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC PLCL1 5334 genome.wustl.edu 37 2 198949706 198949706 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 198949706 198949706 C G SNP PLCL1 ENST00000428675 human ensembl 70_37 +1 known missense c.1465 p.L489V 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC PLD2 5338 genome.wustl.edu 37 17 4711670 4711670 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 4711670 4711670 C T SNP PLD2 ENST00000263088 human ensembl 70_37 +1 known silent c.342 p.L114 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC PLEC 5339 genome.wustl.edu 37 8 144996564 144996564 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144996564 144996564 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known splice_site c.7837-1 e32-1 1.000 - - - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 144997172 144997172 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144997172 144997172 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.7336 p.E2446Q 1.000 superfamily_Chorismate_mutase_type_II pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 144997494 144997494 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144997494 144997494 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.7014 p.Q2338H 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 144997691 144997691 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144997691 144997691 C G SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.6817 p.E2273Q 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEC 5339 genome.wustl.edu 37 8 144999689 144999689 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 144999689 144999689 C T SNP PLEC ENST00000322810 human ensembl 70_37 -1 known missense c.4819 p.G1607R 0.978 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC PLEKHG4B 153478 genome.wustl.edu 37 5 143604 143604 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 143604 143604 C T SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known silent c.729 p.F243 0.985 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC PLEKHG4B 153478 genome.wustl.edu 37 5 143605 143605 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 143605 143605 C T SNP PLEKHG4B ENST00000283426 human ensembl 70_37 +1 known missense c.730 p.H244Y 0.871 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC PLEKHM1P 440456 genome.wustl.edu 37 17 62788592 62788592 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 62788592 62788592 C T SNP PLEKHM1P ENST00000578036 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC PLEKHO2 80301 genome.wustl.edu 37 15 65157149 65157149 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 65157149 65157149 G A SNP PLEKHO2 ENST00000323544 human ensembl 70_37 +1 known missense c.535 p.D179N 0.986 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO2 HGNC PLIN4 729359 genome.wustl.edu 37 19 4511860 4511860 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 4511860 4511860 G C SNP PLIN4 ENST00000301286 human ensembl 70_37 -1 novel silent c.2070 p.L690 0.155 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC PLK4 10733 genome.wustl.edu 37 4 128811391 128811391 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 128811391 128811391 G C SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known silent c.1830 p.V610 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC PLOD1 5351 genome.wustl.edu 37 1 12009904 12009904 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 12009904 12009904 G A SNP PLOD1 ENST00000376369 human ensembl 70_37 +1 known silent c.384 p.L128 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC PLS1 5357 genome.wustl.edu 37 3 142388394 142388394 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 142388394 142388394 C T SNP PLS1 ENST00000337777 human ensembl 70_37 +1 known missense c.233 p.S78L 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_CH-domain,pfam_EF-hand,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS1 HGNC PLVAP 83483 genome.wustl.edu 37 19 17476175 17476175 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 17476175 17476175 C G SNP PLVAP ENST00000252590 human ensembl 70_37 -1 known missense c.1099 p.E367Q 0.970 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC PLXNA2 5362 genome.wustl.edu 37 1 208383784 208383784 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 208383784 208383784 G A SNP PLXNA2 ENST00000367033 human ensembl 70_37 -1 known silent c.1212 p.F404 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag 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 PLXNA2 HGNC PLXNB2 23654 genome.wustl.edu 37 22 50728569 50728569 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 50728569 50728569 C T SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.445 p.E149K 0.998 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,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 PLXNB2 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94543449 94543449 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 94543449 94543449 C A SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.702 p.F234L 0.997 superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC PM20D2 135293 genome.wustl.edu 37 6 89862863 89862863 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 89862863 89862863 C T SNP PM20D2 ENST00000275072 human ensembl 70_37 +1 known missense c.716 p.S239F 1.000 pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC PML 5371 genome.wustl.edu 37 15 74315461 74315461 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 74315461 74315461 G C SNP PML ENST00000268058 human ensembl 70_37 +1 known missense c.895 p.E299Q 0.138 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC PMPCA 23203 genome.wustl.edu 37 9 139313653 139313653 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 139313653 139313653 G C SNP PMPCA ENST00000462616 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PMPCA HGNC PNKP 11284 genome.wustl.edu 37 19 50369700 50369700 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50369700 50369700 C T SNP PNKP ENST00000322344 human ensembl 70_37 -1 known missense c.154 p.E52K 1.000 superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC PNLIPRP3 119548 genome.wustl.edu 37 10 118236174 118236174 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 118236174 118236174 G C SNP PNLIPRP3 ENST00000369230 human ensembl 70_37 +1 known missense c.1183 p.E395Q 0.055 pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC PNP 4860 genome.wustl.edu 37 14 20944590 20944590 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 20944590 20944590 C T SNP PNP ENST00000361505 human ensembl 70_37 +1 known nonsense c.700 p.R234* 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase - no_errors PNP HGNC PNPLA3 80339 genome.wustl.edu 37 22 44319878 44319878 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 44319878 44319878 G A SNP PNPLA3 ENST00000216180 human ensembl 70_37 +1 known silent c.87 p.L29 0.998 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA3 HGNC POLD1 5424 genome.wustl.edu 37 19 50906815 50906815 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50906815 50906815 C T SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known silent c.1203 p.F401 0.261 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC POLG 5428 genome.wustl.edu 37 15 89862178 89862178 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 89862178 89862178 G A SNP POLG ENST00000268124 human ensembl 70_37 -1 known missense c.3257 p.S1086L 0.004 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC POLR2C 5432 genome.wustl.edu 37 16 57503910 57503910 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 57503910 57503910 G C SNP POLR2C ENST00000219252 human ensembl 70_37 +1 known silent c.477 p.L159 1.000 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC POLR3B 55703 genome.wustl.edu 37 12 106853091 106853091 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 106853091 106853091 C T SNP POLR3B ENST00000228347 human ensembl 70_37 +1 known missense c.2515 p.P839S 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC POLRMT 5442 genome.wustl.edu 37 19 621156 621156 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 621156 621156 G C SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.2587 p.L863V 1.000 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC POLRMT 5442 genome.wustl.edu 37 19 630038 630038 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 630038 630038 C G SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.369 p.Q123H 0.000 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC PORCN 64840 genome.wustl.edu 37 X 48371091 48371091 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 48371091 48371091 G C SNP PORCN ENST00000326194 human ensembl 70_37 +1 known missense c.670 p.D224H 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC POSTN 10631 genome.wustl.edu 37 13 38164624 38164624 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 38164624 38164624 C T SNP POSTN ENST00000379747 human ensembl 70_37 -1 known missense c.326 p.G109E 1.000 superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC POTEA 340441 genome.wustl.edu 37 8 43152239 43152239 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 43152239 43152239 C T SNP POTEA ENST00000522175 human ensembl 70_37 +1 known rna NULL NULL 0.663 - - - no_errors POTEA HGNC POTEC 388468 genome.wustl.edu 37 18 14534913 14534913 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 14534913 14534913 C G SNP POTEC ENST00000358970 human ensembl 70_37 -1 known missense c.904 p.D302H 0.015 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC POU2F1 5451 genome.wustl.edu 37 1 167301706 167301706 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 167301706 167301706 G C SNP POU2F1 ENST00000367866 human ensembl 70_37 +1 known splice_site c.62-1 e2-1 1.000 - - - no_errors POU2F1 HGNC PPIG 9360 genome.wustl.edu 37 2 170488307 170488307 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 170488307 170488307 G C SNP PPIG ENST00000260970 human ensembl 70_37 +1 known missense c.793 p.E265Q 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC PPM1J 333926 genome.wustl.edu 37 1 113256227 113256227 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 113256227 113256227 G C SNP PPM1J ENST00000309276 human ensembl 70_37 -1 known missense c.333 p.I111M 1.000 superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1J HGNC PPP1CB 5500 genome.wustl.edu 37 2 29011673 29011673 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 29011673 29011673 C G SNP PPP1CB ENST00000296122 human ensembl 70_37 +1 known missense c.742 p.Q248E 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CB HGNC PPP1R12A 4659 genome.wustl.edu 37 12 80192284 80192284 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 80192284 80192284 C G SNP PPP1R12A ENST00000261207 human ensembl 70_37 -1 known missense c.2081 p.R694T 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC PPP1R8 5511 genome.wustl.edu 37 1 28169737 28169737 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 28169737 28169737 C G SNP PPP1R8 ENST00000311772 human ensembl 70_37 +1 known missense c.533 p.S178C 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors PPP1R8 HGNC PPRC1 23082 genome.wustl.edu 37 10 103907125 103907125 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 103907125 103907125 C A SNP PPRC1 ENST00000278070 human ensembl 70_37 +1 known missense c.4376 p.S1459Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC PPWD1 23398 genome.wustl.edu 37 5 64867770 64867770 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 64867770 64867770 G C SNP PPWD1 ENST00000261308 human ensembl 70_37 +1 known missense c.626 p.R209P 1.000 superfamily_WD40_repeat_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPWD1 HGNC PRKRIR 5612 genome.wustl.edu 37 11 76063578 76063578 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 76063578 76063578 C G SNP PRKRIR ENST00000260045 human ensembl 70_37 -1 known missense c.616 p.E206Q 1.000 NULL pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC PROM2 150696 genome.wustl.edu 37 2 95940548 95940548 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 95940548 95940548 C G SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known missense c.215 p.S72W 0.544 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC PRPF39 55015 genome.wustl.edu 37 14 45564749 45564749 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 45564749 45564749 C T SNP PRPF39 ENST00000355765 human ensembl 70_37 +1 known nonsense c.307 p.Q103* 1.000 NULL smart_HAT - no_errors PRPF39 HGNC PRR5L 79899 genome.wustl.edu 37 11 36472765 36472765 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 36472765 36472765 C T SNP PRR5L ENST00000378867 human ensembl 70_37 +1 known missense c.592 p.H198Y 1.000 NULL pfam_HbrB - no_errors PRR5L HGNC PRRC2B 84726 genome.wustl.edu 37 9 134343102 134343102 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 134343102 134343102 C A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.1873 p.P625T 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PRRG3 79057 genome.wustl.edu 37 X 150869355 150869355 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 150869355 150869355 C G SNP PRRG3 ENST00000370353 human ensembl 70_37 +1 known silent c.546 p.L182 0.705 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC PRUNE 58497 genome.wustl.edu 37 1 150999800 150999800 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 150999800 150999800 G C SNP PRUNE ENST00000271620 human ensembl 70_37 +1 known missense c.771 p.L257F 1.000 pfam_DHHA2 pfam_DHHA2,pfam_Pesterase_RecJ - no_errors PRUNE HGNC PSD 5662 genome.wustl.edu 37 10 104176175 104176175 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 104176175 104176175 G T SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.621 p.F207L 0.802 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 PSD2 84249 genome.wustl.edu 37 5 139193876 139193876 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 139193876 139193876 C T SNP PSD2 ENST00000274710 human ensembl 70_37 +1 known missense c.943 p.H315Y 0.789 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC PSG10P 653492 genome.wustl.edu 37 19 43358392 43358392 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 43358392 43358392 C G SNP PSG10P ENST00000597171 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors PSG10P HGNC PSMD9 5715 genome.wustl.edu 37 12 122337767 122337767 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 122337767 122337767 G A SNP PSMD9 ENST00000543699 human ensembl 70_37 +1 known missense c.469 p.A157T 0.001 NULL NULL - no_errors PSMD9 HGNC PTCH1 5727 genome.wustl.edu 37 9 98242341 98242341 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 98242341 98242341 C G SNP PTCH1 ENST00000331920 human ensembl 70_37 -1 known missense c.977 p.G326A 1.000 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC PTDSS2 81490 genome.wustl.edu 37 11 488567 488567 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 488567 488567 C G SNP PTDSS2 ENST00000308020 human ensembl 70_37 +1 known missense c.774 p.I258M 1.000 pfam_PSS pfam_PSS - no_errors PTDSS2 HGNC PTPLA 9200 genome.wustl.edu 37 10 17636383 17636383 + Splice_Site SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 17636383 17636383 C T SNP PTPLA ENST00000361271 human ensembl 70_37 -1 known splice_site c.606-1 e6-1 1.000 - - - no_errors PTPLA HGNC PTPN13 5783 genome.wustl.edu 37 4 87685874 87685874 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 87685874 87685874 C T SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known silent c.4146 p.V1382 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTPN21 11099 genome.wustl.edu 37 14 88983588 88983588 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 88983588 88983588 G A SNP PTPN21 ENST00000328736 human ensembl 70_37 -1 known silent c.198 p.L66 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,prints_Band_41_fam pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC PTPRM 5797 genome.wustl.edu 37 18 8394576 8394576 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 8394576 8394576 G A SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known silent c.4314 p.L1438 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 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC PTPRN2 5799 genome.wustl.edu 37 7 157926700 157926700 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 157926700 157926700 G C SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.1294 p.R432G 0.005 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,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 - no_errors PTPRN2 HGNC PTPRZ1 5803 genome.wustl.edu 37 7 121659177 121659177 + Splice_Site SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 121659177 121659177 G C SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known splice_site c.4844-1 e13-1 1.000 - - - no_errors PTPRZ1 HGNC PVRL3 25945 genome.wustl.edu 37 3 110852841 110852841 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 110852841 110852841 C G SNP PVRL3 ENST00000485303 human ensembl 70_37 +1 known missense c.1429 p.P477A 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC PXDN 7837 genome.wustl.edu 37 2 1653335 1653335 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 1653335 1653335 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known silent c.2217 p.Q739 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC PXDN 7837 genome.wustl.edu 37 2 1677580 1677580 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 1677580 1677580 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.853 p.E285K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC PXK 54899 genome.wustl.edu 37 3 58394714 58394714 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 58394714 58394714 G C SNP PXK ENST00000356151 human ensembl 70_37 +1 known missense c.1294 p.E432Q 0.999 pfscan_Prot_kinase_cat_dom pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom - no_errors PXK HGNC PYGL 5836 genome.wustl.edu 37 14 51404508 51404508 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 51404508 51404508 C T SNP PYGL ENST00000216392 human ensembl 70_37 -1 known silent c.291 p.Q97 1.000 pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC QPCTL 54814 genome.wustl.edu 37 19 46198872 46198872 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 46198872 46198872 G A SNP QPCTL ENST00000012049 human ensembl 70_37 +1 known missense c.529 p.G177R 0.020 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCTL HGNC QPCTL 54814 genome.wustl.edu 37 19 46198873 46198873 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 46198873 46198873 G T SNP QPCTL ENST00000012049 human ensembl 70_37 +1 known missense c.530 p.G177V 0.001 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCTL HGNC QRFP 347148 genome.wustl.edu 37 9 133769049 133769049 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 133769049 133769049 C A SNP QRFP ENST00000343079 human ensembl 70_37 -1 known silent c.177 p.L59 0.000 pfam_P518 pfam_P518 - no_errors QRFP HGNC RAB11A 8766 genome.wustl.edu 37 15 66180230 66180230 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 66180230 66180230 G C SNP RAB11A ENST00000569304 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RAB11A HGNC RAB11FIP2 22841 genome.wustl.edu 37 10 119805360 119805360 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 119805360 119805360 G C SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known silent c.315 p.L105 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP2 HGNC RAB11FIP5 26056 genome.wustl.edu 37 2 73315528 73315528 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 73315528 73315528 C G SNP RAB11FIP5 ENST00000258098 human ensembl 70_37 -1 known silent c.1218 p.L406 0.293 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RAB11FIP5 HGNC RAB3D 9545 genome.wustl.edu 37 19 11446153 11446153 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 11446153 11446153 C T SNP RAB3D ENST00000222120 human ensembl 70_37 -1 known missense c.442 p.E148K 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3D HGNC RAC1 5879 genome.wustl.edu 37 7 6441588 6441588 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 6441588 6441588 C T SNP RAC1 ENST00000356142 human ensembl 70_37 +1 known silent c.435 p.I145 0.074 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC1 HGNC RAD51D 5892 genome.wustl.edu 37 17 33446700 33446700 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 33446700 33446700 C G SNP RAD51D ENST00000590380 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RAD51D HGNC RAET1E 135250 genome.wustl.edu 37 6 150210680 150210680 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 150210680 150210680 G C SNP RAET1E ENST00000392270 human ensembl 70_37 -1 known missense c.320 p.P107R 0.000 NULL superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC RALGAPA1 253959 genome.wustl.edu 37 14 36125063 36125063 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 36125063 36125063 G A SNP RALGAPA1 ENST00000258840 human ensembl 70_37 -1 known missense c.4069 p.H1357Y 1.000 superfamily_ARM-type_fold pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC RARS2 57038 genome.wustl.edu 37 6 88265199 88265199 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 88265199 88265199 C G SNP RARS2 ENST00000369536 human ensembl 70_37 -1 known missense c.322 p.D108H 1.000 superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia - no_errors RARS2 HGNC RASGRP4 115727 genome.wustl.edu 37 19 38910838 38910838 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 38910838 38910838 G C SNP RASGRP4 ENST00000587738 human ensembl 70_37 -1 known missense c.442 p.R148G 0.934 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC RASSF3 283349 genome.wustl.edu 37 12 65082182 65082182 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 65082182 65082182 G A SNP RASSF3 ENST00000336061 human ensembl 70_37 +1 known missense c.406 p.E136K 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH - no_errors RASSF3 HGNC RB1CC1 9821 genome.wustl.edu 37 8 53569888 53569888 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 53569888 53569888 G C SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known nonsense c.2501 p.S834* 0.991 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC RB1CC1 9821 genome.wustl.edu 37 8 53586728 53586728 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 53586728 53586728 C G SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known missense c.679 p.E227Q 0.998 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC RBM10 8241 genome.wustl.edu 37 X 47034434 47034434 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47034434 47034434 C T SNP RBM10 ENST00000377604 human ensembl 70_37 +1 known silent c.519 p.F173 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC RBM15 64783 genome.wustl.edu 37 1 110882622 110882622 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 110882622 110882622 G T SNP RBM15 ENST00000369784 human ensembl 70_37 +1 known missense c.595 p.D199Y 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC RBM15 64783 genome.wustl.edu 37 1 110882687 110882687 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 110882687 110882687 G A SNP RBM15 ENST00000369784 human ensembl 70_37 +1 known silent c.660 p.V220 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15 HGNC RBM17 84991 genome.wustl.edu 37 10 6154309 6154309 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 6154309 6154309 G A SNP RBM17 ENST00000379888 human ensembl 70_37 +1 known missense c.841 p.D281N 0.996 pirsf_Splicing_factor_SPF45 pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom - no_errors RBM17 HGNC RBM26 64062 genome.wustl.edu 37 13 79916921 79916921 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 79916921 79916921 C G SNP RBM26 ENST00000327303 human ensembl 70_37 -1 known missense c.2305 p.D769H 1.000 NULL pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC RBM33 155435 genome.wustl.edu 37 7 155473423 155473423 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 155473423 155473423 C T SNP RBM33 ENST00000401878 human ensembl 70_37 +1 known missense c.388 p.H130Y 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC RBM5 10181 genome.wustl.edu 37 3 50137419 50137419 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50137419 50137419 G C SNP RBM5 ENST00000347869 human ensembl 70_37 +1 known missense c.344 p.R115P 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC RBM5 10181 genome.wustl.edu 37 3 50151469 50151469 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50151469 50151469 G C SNP RBM5 ENST00000347869 human ensembl 70_37 +1 known missense c.1704 p.L568F 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC RBP3 5949 genome.wustl.edu 37 10 48390628 48390628 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 48390628 48390628 C T SNP RBP3 ENST00000224600 human ensembl 70_37 -1 known missense c.250 p.D84N 1.000 pfam_Interphotorcpt_retinol-bd_N pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC RBPJ 3516 genome.wustl.edu 37 4 26364133 26364133 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 26364133 26364133 C G SNP RBPJ ENST00000511401 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RBPJ HGNC RCAN3 11123 genome.wustl.edu 37 1 24861651 24861651 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 24861651 24861651 G A SNP RCAN3 ENST00000374395 human ensembl 70_37 +1 known missense c.610 p.E204K 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN3 HGNC RCSD1 92241 genome.wustl.edu 37 1 167666535 167666535 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 167666535 167666535 G A SNP RCSD1 ENST00000367854 human ensembl 70_37 +1 known missense c.674 p.G225E 0.000 NULL pfam_RCSD - no_errors RCSD1 HGNC NELFE 7936 genome.wustl.edu 37 6 31926158 31926158 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 31926158 31926158 G C SNP RDBP ENST00000375429 human ensembl 70_37 -1 known silent c.66 p.L22 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RDBP HGNC NELFE 7936 genome.wustl.edu 37 6 31926167 31926167 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 31926167 31926167 G A SNP RDBP ENST00000375429 human ensembl 70_37 -1 known silent c.57 p.F19 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RDBP HGNC REEP4 80346 genome.wustl.edu 37 8 21995920 21995920 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 21995920 21995920 G C SNP REEP4 ENST00000523293 human ensembl 70_37 -1 putative missense c.699 p.I233M 0.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC RERE 473 genome.wustl.edu 37 1 8419925 8419925 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 8419925 8419925 C T SNP RERE ENST00000337907 human ensembl 70_37 -1 known missense c.3517 p.E1173K 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC RERE 473 genome.wustl.edu 37 1 8426005 8426005 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 8426005 8426005 C T SNP RERE ENST00000337907 human ensembl 70_37 -1 known nonsense c.1314 p.W438* 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC REXO2 25996 genome.wustl.edu 37 11 114320605 114320605 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 114320605 114320605 C T SNP REXO2 ENST00000265881 human ensembl 70_37 +1 known nonsense c.622 p.Q208* 1.000 superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO2 HGNC RFC1 5981 genome.wustl.edu 37 4 39329178 39329178 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 39329178 39329178 G C SNP RFC1 ENST00000381897 human ensembl 70_37 -1 known missense c.530 p.S177C 1.000 pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC RFPL3 10738 genome.wustl.edu 37 22 32754152 32754152 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 32754152 32754152 G C SNP RFPL3 ENST00000249007 human ensembl 70_37 +1 known missense c.94 p.A32P 0.031 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC RFX3 5991 genome.wustl.edu 37 9 3277378 3277378 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 3277378 3277378 G A SNP RFX3 ENST00000382004 human ensembl 70_37 -1 known missense c.935 p.T312I 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC RFX3 5991 genome.wustl.edu 37 9 3277390 3277390 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 3277390 3277390 G C SNP RFX3 ENST00000382004 human ensembl 70_37 -1 known missense c.923 p.S308C 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC RGAG1 57529 genome.wustl.edu 37 X 109695460 109695460 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 109695460 109695460 C G SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known missense c.1615 p.L539V 0.093 NULL NULL - no_errors RGAG1 HGNC RGL2 5863 genome.wustl.edu 37 6 33264531 33264531 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33264531 33264531 G C SNP RGL2 ENST00000497454 human ensembl 70_37 -1 known missense c.263 p.S88C 0.994 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC RGPD8 727851 genome.wustl.edu 37 2 113147114 113147114 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 113147114 113147114 G A SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known silent c.3408 p.F1136 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC RGS17 26575 genome.wustl.edu 37 6 153332811 153332811 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 153332811 153332811 C G SNP RGS17 ENST00000206262 human ensembl 70_37 -1 known missense c.531 p.Q177H 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS17 HGNC RGS22 26166 genome.wustl.edu 37 8 101078512 101078512 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 101078512 101078512 G C SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known missense c.607 p.Q203E 1.000 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC RGS3 5998 genome.wustl.edu 37 9 116346022 116346022 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 116346022 116346022 C T SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.2330 p.S777L 0.003 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC RHOA 387 genome.wustl.edu 37 3 49400019 49400019 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49400019 49400019 G C SNP RHOA ENST00000418115 human ensembl 70_37 -1 known missense c.318 p.F106L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC RICTOR 253260 genome.wustl.edu 37 5 38957801 38957801 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 38957801 38957801 G C SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known missense c.2452 p.L818V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC RIMKLB 57494 genome.wustl.edu 37 12 8906507 8906507 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 8906507 8906507 G C SNP RIMKLB ENST00000357529 human ensembl 70_37 +1 known missense c.515 p.R172P 1.000 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC RIMS4 140730 genome.wustl.edu 37 20 43438835 43438835 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 43438835 43438835 G A SNP RIMS4 ENST00000541604 human ensembl 70_37 -1 known silent c.78 p.S26 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RIMS4 HGNC RIOK1 83732 genome.wustl.edu 37 6 7413155 7413155 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 7413155 7413155 G C SNP RIOK1 ENST00000379834 human ensembl 70_37 +1 known missense c.1423 p.D475H 1.000 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC RNF111 54778 genome.wustl.edu 37 15 59323793 59323793 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 59323793 59323793 G A SNP RNF111 ENST00000434298 human ensembl 70_37 +1 known missense c.772 p.E258K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC RNF123 63891 genome.wustl.edu 37 3 49751254 49751254 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49751254 49751254 G C SNP RNF123 ENST00000327697 human ensembl 70_37 +1 known missense c.2833 p.E945Q 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC RNF14 9604 genome.wustl.edu 37 5 141359694 141359694 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 141359694 141359694 G C SNP RNF14 ENST00000347642 human ensembl 70_37 +1 known missense c.841 p.E281Q 1.000 NULL pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC RNF157 114804 genome.wustl.edu 37 17 74158697 74158697 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74158697 74158697 C T SNP RNF157 ENST00000269391 human ensembl 70_37 -1 known missense c.728 p.G243E 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC RNF17 56163 genome.wustl.edu 37 13 25378559 25378559 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 25378559 25378559 C G SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.2083 p.L695V 1.000 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC RNF17 56163 genome.wustl.edu 37 13 25417973 25417973 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 25417973 25417973 C G SNP RNF17 ENST00000255324 human ensembl 70_37 +1 known missense c.2695 p.P899A 0.005 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC RNF213 57674 genome.wustl.edu 37 17 78328272 78328272 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 78328272 78328272 C T SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known silent c.10758 p.L3586 0.221 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF216P1 441191 genome.wustl.edu 37 7 5033260 5033260 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 5033260 5033260 G A SNP RNF216P1 ENST00000471244 human ensembl 70_37 +1 known rna NULL NULL 0.974 - - - no_errors RNF216P1 HGNC RNF216P1 441191 genome.wustl.edu 37 7 5033261 5033261 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 5033261 5033261 G A SNP RNF216P1 ENST00000471244 human ensembl 70_37 +1 known rna NULL NULL 0.985 - - - no_errors RNF216P1 HGNC RNF26 79102 genome.wustl.edu 37 11 119207071 119207071 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 119207071 119207071 C T SNP RNF26 ENST00000311413 human ensembl 70_37 +1 known silent c.1239 p.V413 0.985 pfscan_Znf_RING pfscan_Znf_RING - no_errors RNF26 HGNC RNF32 140545 genome.wustl.edu 37 7 156468504 156468504 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 156468504 156468504 G C SNP RNF32 ENST00000317955 human ensembl 70_37 +1 known missense c.799 p.E267Q 0.047 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC RNF32 140545 genome.wustl.edu 37 7 156468519 156468519 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 156468519 156468519 G A SNP RNF32 ENST00000317955 human ensembl 70_37 +1 known missense c.814 p.E272K 0.000 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC RNF40 9810 genome.wustl.edu 37 16 30776605 30776605 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 30776605 30776605 G A SNP RNF40 ENST00000324685 human ensembl 70_37 +1 known missense c.875 p.R292Q 0.998 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC RNMT 8731 genome.wustl.edu 37 18 13731616 13731616 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 13731616 13731616 G C SNP RNMT ENST00000262173 human ensembl 70_37 +1 known missense c.100 p.E34Q 0.958 pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ROBO2 6092 genome.wustl.edu 37 3 77623803 77623803 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 77623803 77623803 G C SNP ROBO2 ENST00000461745 human ensembl 70_37 +1 known missense c.2125 p.E709Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO2 HGNC ROBO4 54538 genome.wustl.edu 37 11 124761385 124761385 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 124761385 124761385 G C SNP ROBO4 ENST00000306534 human ensembl 70_37 -1 known missense c.1758 p.I586M 0.912 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO4 HGNC ROCK2 9475 genome.wustl.edu 37 2 11341440 11341440 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 11341440 11341440 C T SNP ROCK2 ENST00000315872 human ensembl 70_37 -1 known missense c.2719 p.E907K 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC ROMO1 140823 genome.wustl.edu 37 20 34287611 34287611 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 34287611 34287611 C T SNP ROMO1 ENST00000336695 human ensembl 70_37 +1 known silent c.57 p.V19 1.000 pfam_Romo1 pfam_Romo1 - no_errors ROMO1 HGNC RP1 6101 genome.wustl.edu 37 8 55538983 55538983 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 55538983 55538983 G C SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.2541 p.L847F 0.895 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RPAP1 26015 genome.wustl.edu 37 15 41815045 41815045 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 41815045 41815045 G A SNP RPAP1 ENST00000304330 human ensembl 70_37 -1 known missense c.2660 p.S887L 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC RPL18 6141 genome.wustl.edu 37 19 49119188 49119188 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49119188 49119188 C T SNP RPL18 ENST00000549920 human ensembl 70_37 -1 known missense c.437 p.R146Q 1.000 NULL pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors RPL18 HGNC RPL27 6155 genome.wustl.edu 37 17 41154798 41154798 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 41154798 41154798 G C SNP RPL27 ENST00000253788 human ensembl 70_37 +1 known missense c.360 p.E120D 1.000 pfam_Ribosomal_L27e pfam_Ribosomal_L27e,pfam_KOW,smart_KOW - no_errors RPL27 HGNC RPL7A 6130 genome.wustl.edu 37 9 136216355 136216355 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 136216355 136216355 G A SNP RPL7A ENST00000489392 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL7A HGNC RPS10 6204 genome.wustl.edu 37 6 34386188 34386188 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 34386188 34386188 C G SNP RPS10 ENST00000326199 human ensembl 70_37 -1 known missense c.414 p.K138N 1.000 NULL pfam_S10_plectin_N - no_errors RPS10 HGNC RPS5 6193 genome.wustl.edu 37 19 58906057 58906057 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 58906057 58906057 G A SNP RPS5 ENST00000196551 human ensembl 70_37 +1 known silent c.555 p.S185 0.970 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC RPS6KA2 6196 genome.wustl.edu 37 6 166918098 166918098 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 166918098 166918098 G C SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known silent c.537 p.V179 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA2 HGNC RPS6KB2 6199 genome.wustl.edu 37 11 67202364 67202364 + RNA SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 67202364 67202364 C A SNP RPS6KB2 ENST00000531765 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors RPS6KB2 HGNC RRN3P1 730092 genome.wustl.edu 37 16 21812093 21812093 + RNA SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 21812093 21812093 G T SNP RRN3P1 ENST00000546471 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RRN3P1 HGNC RRP12 23223 genome.wustl.edu 37 10 99160214 99160214 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 99160214 99160214 C T SNP RRP12 ENST00000370992 human ensembl 70_37 -1 known missense c.217 p.E73K 0.515 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC RSPO3 84870 genome.wustl.edu 37 6 127469843 127469843 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 127469843 127469843 G C SNP RSPO3 ENST00000368317 human ensembl 70_37 +1 known missense c.148 p.D50H 1.000 superfamily_Growth_fac_rcpt,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO3 HGNC RTN3 10313 genome.wustl.edu 37 11 63486746 63486746 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 63486746 63486746 G A SNP RTN3 ENST00000377819 human ensembl 70_37 +1 known missense c.772 p.D258N 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC RXFP2 122042 genome.wustl.edu 37 13 32371488 32371488 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 32371488 32371488 C G SNP RXFP2 ENST00000298386 human ensembl 70_37 +1 known missense c.1937 p.S646C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt - no_errors RXFP2 HGNC RYR2 6262 genome.wustl.edu 37 1 237754039 237754039 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 237754039 237754039 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.3901 p.R1301C 0.998 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR2 6262 genome.wustl.edu 37 1 237872193 237872193 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 237872193 237872193 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known nonsense c.9931 p.Q3311* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC RYR3 6263 genome.wustl.edu 37 15 33872331 33872331 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 33872331 33872331 C G SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.1423 p.L475V 1.000 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC RYR3 6263 genome.wustl.edu 37 15 33988603 33988603 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 33988603 33988603 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known silent c.6045 p.I2015 0.996 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC SAG 6295 genome.wustl.edu 37 2 234255520 234255520 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 234255520 234255520 G A SNP SAG ENST00000409110 human ensembl 70_37 +1 known missense c.1180 p.E394K 0.447 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC SAMD4A 23034 genome.wustl.edu 37 14 55168941 55168941 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 55168941 55168941 G C SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known missense c.358 p.E120Q 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC SCAF1 58506 genome.wustl.edu 37 19 50154543 50154543 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50154543 50154543 G A SNP SCAF1 ENST00000360565 human ensembl 70_37 +1 known silent c.897 p.E299 0.621 NULL NULL - no_errors SCAF1 HGNC SCAF8 22828 genome.wustl.edu 37 6 155143334 155143334 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 155143334 155143334 G A SNP SCAF8 ENST00000479234 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SCAF8 HGNC SCN11A 11280 genome.wustl.edu 37 3 38926868 38926868 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 38926868 38926868 G C SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known nonsense c.2975 p.S992* 0.749 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC SCN11A 11280 genome.wustl.edu 37 3 38946787 38946787 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 38946787 38946787 C A SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.1499 p.R500L 0.980 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC SCN4A 6329 genome.wustl.edu 37 17 62034657 62034657 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 62034657 62034657 G C SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known missense c.2241 p.F747L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC SCN5A 6331 genome.wustl.edu 37 3 38648291 38648291 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 38648291 38648291 C T SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known missense c.1009 p.E337K 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC SCNN1G 6340 genome.wustl.edu 37 16 23224211 23224211 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 23224211 23224211 C T SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known missense c.1427 p.S476L 0.968 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC SCRN2 90507 genome.wustl.edu 37 17 45918126 45918126 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 45918126 45918126 G A SNP SCRN2 ENST00000290216 human ensembl 70_37 -1 known silent c.84 p.I28 1.000 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC SDCBP 6386 genome.wustl.edu 37 8 59490703 59490703 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 59490703 59490703 G C SNP SDCBP ENST00000260130 human ensembl 70_37 +1 known missense c.514 p.D172H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC SDHAP1 255812 genome.wustl.edu 37 3 195692388 195692388 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 195692388 195692388 G C SNP SDHAP1 ENST00000354559 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC SDK2 54549 genome.wustl.edu 37 17 71431603 71431603 + Missense_Mutation SNP T T G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 71431603 71431603 T G SNP SDK2 ENST00000392650 human ensembl 70_37 -1 known missense c.1181 p.Y394S 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC SDPR 8436 genome.wustl.edu 37 2 192701229 192701229 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 192701229 192701229 C G SNP SDPR ENST00000304141 human ensembl 70_37 -1 known missense c.698 p.R233T 1.000 NULL NULL - no_errors SDPR HGNC SEC14L5 9717 genome.wustl.edu 37 16 5058617 5058617 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 5058617 5058617 C G SNP SEC14L5 ENST00000251170 human ensembl 70_37 +1 known missense c.1768 p.P590A 0.803 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC SELP 6403 genome.wustl.edu 37 1 169560702 169560702 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 169560702 169560702 C T SNP SELP ENST00000466167 human ensembl 70_37 -1 known rna NULL NULL 0.173 - - - no_errors SELP HGNC SEMA4A 64218 genome.wustl.edu 37 1 156126185 156126185 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 156126185 156126185 C G SNP SEMA4A ENST00000470306 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SEMA4A HGNC SEMA4A 64218 genome.wustl.edu 37 1 156131286 156131286 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 156131286 156131286 C G SNP SEMA4A ENST00000355014 human ensembl 70_37 +1 known missense c.960 p.I320M 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4A HGNC SEZ6L2 26470 genome.wustl.edu 37 16 29883830 29883830 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 29883830 29883830 G T SNP SEZ6L2 ENST00000308713 human ensembl 70_37 -1 known missense c.2506 p.P836T 0.998 NULL pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC SFI1 9814 genome.wustl.edu 37 22 32009453 32009453 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 32009453 32009453 C T SNP SFI1 ENST00000400288 human ensembl 70_37 +1 known silent c.2679 p.L893 0.982 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC SGK223 157285 genome.wustl.edu 37 8 8176255 8176255 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 8176255 8176255 G A SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known silent c.3630 p.I1210 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename SGOL2 151246 genome.wustl.edu 37 2 201438514 201438514 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 201438514 201438514 G C SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.3445 p.D1149H 0.121 NULL NULL - no_errors SGOL2 HGNC SHANK2 22941 genome.wustl.edu 37 11 70333107 70333107 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 70333107 70333107 C T SNP SHANK2 ENST00000338508 human ensembl 70_37 -1 known silent c.3294 p.R1098 0.999 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC SHMT1 6470 genome.wustl.edu 37 17 18232688 18232688 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 18232688 18232688 G C SNP SHMT1 ENST00000316694 human ensembl 70_37 -1 known missense c.1186 p.L396V 0.531 pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC SHROOM3 57619 genome.wustl.edu 37 4 77677800 77677800 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 77677800 77677800 G A SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known silent c.4908 p.Q1636 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC SIGIRR 59307 genome.wustl.edu 37 11 406528 406528 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 406528 406528 G A SNP SIGIRR ENST00000382520 human ensembl 70_37 -1 known missense c.890 p.S297F 0.998 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors SIGIRR HGNC SIGIRR 59307 genome.wustl.edu 37 11 408113 408113 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 408113 408113 G C SNP SIGIRR ENST00000382520 human ensembl 70_37 -1 known missense c.300 p.I100M 0.003 pfscan_Ig-like pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors SIGIRR HGNC SIGLEC1 6614 genome.wustl.edu 37 20 3686628 3686628 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 3686628 3686628 C T SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known missense c.469 p.D157N 0.016 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC SIK2 23235 genome.wustl.edu 37 11 111591721 111591721 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 111591721 111591721 G A SNP SIK2 ENST00000304987 human ensembl 70_37 +1 known missense c.1879 p.E627K 0.986 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC SIN3A 25942 genome.wustl.edu 37 15 75692404 75692404 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 75692404 75692404 G C SNP SIN3A ENST00000360439 human ensembl 70_37 -1 known missense c.1831 p.R611G 1.000 pfam_HDAC_interact,smart_HDAC_interact pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC SIPA1 6494 genome.wustl.edu 37 11 65417036 65417036 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 65417036 65417036 C G SNP SIPA1 ENST00000394224 human ensembl 70_37 +1 known missense c.2530 p.L844V 0.999 NULL pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1 HGNC SIPA1L1 26037 genome.wustl.edu 37 14 72055659 72055659 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 72055659 72055659 G C SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known missense c.1070 p.R357T 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC SIRPA 140885 genome.wustl.edu 37 20 1902277 1902277 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 1902277 1902277 C T SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known nonsense c.673 p.Q225* 0.437 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC SLC11A2 4891 genome.wustl.edu 37 12 51394105 51394105 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 51394105 51394105 G C SNP SLC11A2 ENST00000394904 human ensembl 70_37 -1 known missense c.614 p.S205C 1.000 pfam_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp - no_errors SLC11A2 HGNC SLC12A3 6559 genome.wustl.edu 37 16 56918016 56918016 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 56918016 56918016 C T SNP SLC12A3 ENST00000438926 human ensembl 70_37 +1 known silent c.1725 p.I575 0.019 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC SLC12A6 9990 genome.wustl.edu 37 15 34553159 34553159 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 34553159 34553159 C T SNP SLC12A6 ENST00000558589 human ensembl 70_37 -1 known missense c.352 p.E118K 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC SLC16A14 151473 genome.wustl.edu 37 2 230910660 230910660 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 230910660 230910660 G T SNP SLC16A14 ENST00000295190 human ensembl 70_37 -1 known silent c.1182 p.L394 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 SLC17A1 6568 genome.wustl.edu 37 6 25826704 25826704 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 25826704 25826704 G A SNP SLC17A1 ENST00000244527 human ensembl 70_37 -1 known silent c.192 p.L64 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC SLC20A1 6574 genome.wustl.edu 37 2 113416402 113416402 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 113416402 113416402 G A SNP SLC20A1 ENST00000272542 human ensembl 70_37 +1 known missense c.779 p.R260Q 1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC SLC22A17 51310 genome.wustl.edu 37 14 23821025 23821025 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 23821025 23821025 C G SNP SLC22A17 ENST00000206544 human ensembl 70_37 -1 known missense c.307 p.E103Q 1.000 pfam_MFS,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC SLC22A9 114571 genome.wustl.edu 37 11 63138626 63138626 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 63138626 63138626 C T SNP SLC22A9 ENST00000279178 human ensembl 70_37 +1 known missense c.422 p.S141F 0.022 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 SLC22A9 HGNC SLC25A42 284439 genome.wustl.edu 37 19 19221592 19221592 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 19221592 19221592 G C SNP SLC25A42 ENST00000318596 human ensembl 70_37 +1 known missense c.864 p.L288F 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC SLC26A3 1811 genome.wustl.edu 37 7 107434305 107434305 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 107434305 107434305 C T SNP SLC26A3 ENST00000340010 human ensembl 70_37 -1 known silent c.153 p.K51 0.991 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC SLC26A6 65010 genome.wustl.edu 37 3 48667573 48667573 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 48667573 48667573 G A SNP SLC26A6 ENST00000395550 human ensembl 70_37 -1 known silent c.1344 p.I448 0.008 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC SLC26A8 116369 genome.wustl.edu 37 6 35928783 35928783 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 35928783 35928783 C T SNP SLC26A8 ENST00000355574 human ensembl 70_37 -1 known missense c.1555 p.V519I 0.499 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC SLC29A4 222962 genome.wustl.edu 37 7 5331358 5331358 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 5331358 5331358 C A SNP SLC29A4 ENST00000297195 human ensembl 70_37 +1 known silent c.450 p.I150 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC SLC2A3 6515 genome.wustl.edu 37 12 8085688 8085688 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 8085688 8085688 G C SNP SLC2A3 ENST00000075120 human ensembl 70_37 -1 known missense c.164 p.S55C 0.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC SLC2A6 11182 genome.wustl.edu 37 9 136340663 136340663 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 136340663 136340663 G C SNP SLC2A6 ENST00000371899 human ensembl 70_37 -1 known silent c.633 p.L211 0.998 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC SLC34A1 6569 genome.wustl.edu 37 5 176824804 176824804 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 176824804 176824804 C G SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known missense c.1437 p.F479L 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC SLC35C2 51006 genome.wustl.edu 37 20 44980847 44980847 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 44980847 44980847 G C SNP SLC35C2 ENST00000543605 human ensembl 70_37 -1 known missense c.767 p.S256C 1.000 pfam_DUF250,pfam_UAA pfam_DUF250,pfam_UAA - no_errors SLC35C2 HGNC SLC35E3 55508 genome.wustl.edu 37 12 69145963 69145963 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 69145963 69145963 C T SNP SLC35E3 ENST00000398004 human ensembl 70_37 +1 known missense c.665 p.S222F 1.000 pfam_DUF250,pfam_DMT pfam_DUF250,pfam_DMT - no_errors SLC35E3 HGNC SLC38A2 54407 genome.wustl.edu 37 12 46754939 46754939 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 46754939 46754939 C G SNP SLC38A2 ENST00000256689 human ensembl 70_37 -1 known missense c.1476 p.L492F 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC SLC38A3 10991 genome.wustl.edu 37 3 50252126 50252126 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 50252126 50252126 C T SNP SLC38A3 ENST00000414604 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC38A3 HGNC SLC40A1 30061 genome.wustl.edu 37 2 190445311 190445311 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 190445311 190445311 C T SNP SLC40A1 ENST00000418714 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors SLC40A1 HGNC SLC44A1 23446 genome.wustl.edu 37 9 108061569 108061569 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 108061569 108061569 C T SNP SLC44A1 ENST00000374720 human ensembl 70_37 +1 known silent c.105 p.F35 0.976 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC SLC46A3 283537 genome.wustl.edu 37 13 29286975 29286975 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 29286975 29286975 G C SNP SLC46A3 ENST00000266943 human ensembl 70_37 -1 known nonsense c.902 p.S301* 0.599 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC SLC4A1AP 22950 genome.wustl.edu 37 2 27886730 27886730 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 27886730 27886730 G C SNP SLC4A1AP ENST00000326019 human ensembl 70_37 +1 known missense c.111 p.K37N 0.001 NULL pfam_FHA_dom,pfam_Ds-RNA-bd,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC SLC4A3 6508 genome.wustl.edu 37 2 220498102 220498102 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 220498102 220498102 G C SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known missense c.1465 p.D489H 0.987 pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_Anion_exchange_3,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC SLC5A5 6528 genome.wustl.edu 37 19 18001725 18001725 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 18001725 18001725 G A SNP SLC5A5 ENST00000222248 human ensembl 70_37 +1 known missense c.1682 p.G561E 0.978 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC SLC6A5 9152 genome.wustl.edu 37 11 20676574 20676574 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 20676574 20676574 C G SNP SLC6A5 ENST00000528440 human ensembl 70_37 +1 known rna NULL NULL 0.831 - - - no_errors SLC6A5 HGNC SLC9A1 6548 genome.wustl.edu 37 1 27440753 27440753 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 27440753 27440753 G C SNP SLC9A1 ENST00000263980 human ensembl 70_37 -1 known nonsense c.377 p.S126* 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC SLC9A4 389015 genome.wustl.edu 37 2 103149013 103149013 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 103149013 103149013 G T SNP SLC9A4 ENST00000295269 human ensembl 70_37 +1 known missense c.2263 p.D755Y 0.040 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC SLC9A7 84679 genome.wustl.edu 37 X 46522066 46522066 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 46522066 46522066 G A SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.806 p.A269V 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC SLCO1C1 53919 genome.wustl.edu 37 12 20854329 20854329 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 20854329 20854329 G C SNP SLCO1C1 ENST00000381552 human ensembl 70_37 +1 known missense c.207 p.Q69H 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC SLCO2A1 6578 genome.wustl.edu 37 3 133654649 133654649 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 133654649 133654649 C T SNP SLCO2A1 ENST00000310926 human ensembl 70_37 -1 known missense c.1783 p.A595T 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC SLCO3A1 28232 genome.wustl.edu 37 15 92459366 92459366 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 92459366 92459366 G C SNP SLCO3A1 ENST00000318445 human ensembl 70_37 +1 known silent c.324 p.L108 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC SLFN5 162394 genome.wustl.edu 37 17 33586072 33586072 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 33586072 33586072 G C SNP SLFN5 ENST00000299977 human ensembl 70_37 +1 known missense c.363 p.E121D 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84454215 84454215 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 84454215 84454215 G T SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.1428 p.L476 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SMARCAD1 56916 genome.wustl.edu 37 4 95174009 95174009 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 95174009 95174009 G A SNP SMARCAD1 ENST00000359052 human ensembl 70_37 +1 known missense c.1132 p.E378K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC SMC1A 8243 genome.wustl.edu 37 X 53407550 53407550 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 53407550 53407550 G C SNP SMC1A ENST00000322213 human ensembl 70_37 -1 known silent c.3609 p.V1203 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC SMCP 4184 genome.wustl.edu 37 1 152857023 152857023 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 152857023 152857023 G A SNP SMCP ENST00000368765 human ensembl 70_37 +1 known missense c.125 p.C42Y 0.052 NULL NULL - no_errors SMCP HGNC SMEK1 55671 genome.wustl.edu 37 14 91931636 91931636 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 91931636 91931636 C T SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known silent c.1788 p.L596 0.999 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC SMG6 23293 genome.wustl.edu 37 17 2195915 2195915 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 2195915 2195915 C T SNP SMG6 ENST00000263073 human ensembl 70_37 -1 known silent c.2268 p.L756 1.000 NULL pfam_EST1,smart_PINc_nuc-bd - no_errors SMG6 HGNC SMG8 55181 genome.wustl.edu 37 17 57292318 57292318 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 57292318 57292318 G C SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.2931 p.M977I 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC SNHG1 23642 genome.wustl.edu 37 11 62621506 62621506 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 62621506 62621506 C T SNP SNHG1 ENST00000537068 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG1 HGNC SNIP1 79753 genome.wustl.edu 37 1 38005984 38005984 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 38005984 38005984 C G SNP SNIP1 ENST00000296215 human ensembl 70_37 -1 known missense c.700 p.E234Q 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC SNIP1 79753 genome.wustl.edu 37 1 38019729 38019729 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 38019729 38019729 G C SNP SNIP1 ENST00000296215 human ensembl 70_37 -1 known silent c.102 p.L34 0.725 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC SNORD105 692229 genome.wustl.edu 37 19 10218370 10218370 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 10218370 10218370 G C SNP SNORD105 ENST00000386910 human ensembl 70_37 +1 known rna NULL NULL 0.798 - - - no_errors SNORD105 HGNC SNORD30 9299 genome.wustl.edu 37 11 62621156 62621156 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 62621156 62621156 C T SNP SNORD30 ENST00000384693 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORD30 HGNC SNORD3B-2 780852 genome.wustl.edu 37 17 18965611 18965611 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 18965611 18965611 G C SNP SNORD3B-2 ENST00000577988 human ensembl 70_37 +1 known rna NULL NULL 0.011 - - - no_errors SNORD3B-1 Clone_based_vega_gene SNRNP70 6625 genome.wustl.edu 37 19 49601710 49601710 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49601710 49601710 C G SNP SNRNP70 ENST00000598441 human ensembl 70_37 +1 known missense c.292 p.Q98E 1.000 NULL pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC SNX11 29916 genome.wustl.edu 37 17 46196369 46196369 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46196369 46196369 C G SNP SNX11 ENST00000359238 human ensembl 70_37 +1 known missense c.360 p.S120R 0.999 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC SNX21 90203 genome.wustl.edu 37 20 44470020 44470020 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 44470020 44470020 G A SNP SNX21 ENST00000344780 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC SNX21 90203 genome.wustl.edu 37 20 44470616 44470616 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 44470616 44470616 G A SNP SNX21 ENST00000344780 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC SOCS2 8835 genome.wustl.edu 37 12 93968612 93968612 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 93968612 93968612 C G SNP SOCS2 ENST00000340600 human ensembl 70_37 +1 known missense c.254 p.S85C 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC SON 6651 genome.wustl.edu 37 21 34925697 34925697 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 34925697 34925697 C T SNP SON ENST00000356577 human ensembl 70_37 +1 known missense c.4160 p.S1387L 0.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC SORBS1 10580 genome.wustl.edu 37 10 97174291 97174291 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 97174291 97174291 C G SNP SORBS1 ENST00000361941 human ensembl 70_37 -1 known missense c.770 p.R257T 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC SORCS1 114815 genome.wustl.edu 37 10 108716280 108716280 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 108716280 108716280 G A SNP SORCS1 ENST00000344440 human ensembl 70_37 -1 known missense c.617 p.S206L 0.997 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC SOS1 6654 genome.wustl.edu 37 2 39222312 39222312 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 39222312 39222312 C G SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.3298 p.D1100H 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC SOX11 6664 genome.wustl.edu 37 2 5832886 5832886 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 5832886 5832886 G C SNP SOX11 ENST00000322002 human ensembl 70_37 +1 known missense c.33 p.E11D 1.000 pirsf_SOX-12/11/4a pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pirsf_SOX-12/11/4a,pfscan_HMG_superfamily - no_errors SOX11 HGNC SPAG17 200162 genome.wustl.edu 37 1 118523950 118523950 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 118523950 118523950 C A SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known missense c.5947 p.D1983Y 0.000 NULL NULL - no_errors SPAG17 HGNC SPATA19 219938 genome.wustl.edu 37 11 133711958 133711958 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 133711958 133711958 C G SNP SPATA19 ENST00000299140 human ensembl 70_37 -1 known missense c.480 p.M160I 0.000 NULL NULL - no_errors SPATA19 HGNC SPATA2L 124044 genome.wustl.edu 37 16 89764620 89764620 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 89764620 89764620 C G SNP SPATA2L ENST00000289805 human ensembl 70_37 -1 known missense c.397 p.D133H 0.985 NULL NULL - no_errors SPATA2L HGNC SPDYA 245711 genome.wustl.edu 37 2 29063288 29063288 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 29063288 29063288 C G SNP SPDYA ENST00000334056 human ensembl 70_37 +1 known nonsense c.803 p.S268* 0.018 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC SPEN 23013 genome.wustl.edu 37 1 16257906 16257906 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16257906 16257906 C G SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.5171 p.S1724* 0.003 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16259072 16259072 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16259072 16259072 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.6337 p.E2113Q 0.927 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16261839 16261839 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16261839 16261839 C G SNP SPEN ENST00000375759 human ensembl 70_37 +1 known nonsense c.9104 p.S3035* 0.547 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16262059 16262059 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 16262059 16262059 C G SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.9324 p.I3108M 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPG7 6687 genome.wustl.edu 37 16 89603184 89603184 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 89603184 89603184 G A SNP SPG7 ENST00000341316 human ensembl 70_37 +1 known missense c.1336 p.D446N 0.001 smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors SPG7 HGNC SPHK2 56848 genome.wustl.edu 37 19 49131293 49131293 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49131293 49131293 C T SNP SPHK2 ENST00000443164 human ensembl 70_37 +1 known silent c.909 p.I303 0.998 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC SPIC 121599 genome.wustl.edu 37 12 101880256 101880256 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 101880256 101880256 G A SNP SPIC ENST00000299272 human ensembl 70_37 +1 known missense c.454 p.E152K 0.998 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPIC HGNC SPTAN1 6709 genome.wustl.edu 37 9 131361301 131361301 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 131361301 131361301 G C SNP SPTAN1 ENST00000475367 human ensembl 70_37 +1 known rna NULL NULL 0.044 - - - no_errors SPTAN1 HGNC SPTBN2 6712 genome.wustl.edu 37 11 66467041 66467041 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 66467041 66467041 G C SNP SPTBN2 ENST00000309996 human ensembl 70_37 -1 known silent c.3612 p.L1204 0.623 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC SPTY2D1 144108 genome.wustl.edu 37 11 18636241 18636241 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 18636241 18636241 G A SNP SPTY2D1 ENST00000336349 human ensembl 70_37 -1 known missense c.1580 p.S527L 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC SRD5A3 79644 genome.wustl.edu 37 4 56230311 56230311 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 56230311 56230311 C T SNP SRD5A3 ENST00000264228 human ensembl 70_37 +1 known silent c.435 p.F145 0.834 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC SREBF1 6720 genome.wustl.edu 37 17 17723446 17723446 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 17723446 17723446 G A SNP SREBF1 ENST00000355815 human ensembl 70_37 -1 known missense c.571 p.P191S 0.013 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF1 HGNC SRP19 6728 genome.wustl.edu 37 5 112200184 112200184 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 112200184 112200184 C G SNP SRP19 ENST00000505459 human ensembl 70_37 +1 known missense c.148 p.Q50E 1.000 pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 - no_errors SRP19 HGNC SRPK2 6733 genome.wustl.edu 37 7 104909303 104909303 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 104909303 104909303 C T SNP SRPK2 ENST00000462282 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SRPK2 HGNC SRRM2 23524 genome.wustl.edu 37 16 2808478 2808478 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 2808478 2808478 C T SNP SRRM2 ENST00000301740 human ensembl 70_37 +1 known missense c.523 p.R175W 0.919 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC SSR2 6746 genome.wustl.edu 37 1 155988144 155988144 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 155988144 155988144 C T SNP SSR2 ENST00000295702 human ensembl 70_37 -1 known silent c.171 p.V57 1.000 pfam_TRAP_beta,pirsf_TRAP_beta pfam_TRAP_beta,pirsf_TRAP_beta - no_errors SSR2 HGNC ST13 6767 genome.wustl.edu 37 22 41226912 41226912 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 41226912 41226912 C G SNP ST13 ENST00000216218 human ensembl 70_37 -1 known missense c.730 p.E244Q 1.000 NULL pfam_TPR-1,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ST13 HGNC ST6GALNAC1 55808 genome.wustl.edu 37 17 74625172 74625172 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74625172 74625172 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 70_37 -1 known silent c.753 p.L251 0.034 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ST6GALNAC2 10610 genome.wustl.edu 37 17 74570585 74570585 + Nonsense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 74570585 74570585 G A SNP ST6GALNAC2 ENST00000225276 human ensembl 70_37 -1 known nonsense c.223 p.Q75* 0.002 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ST7-AS1 93653 genome.wustl.edu 37 7 116593810 116593810 + RNA SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 116593810 116593810 C G SNP ST7-AS1 ENST00000456775 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors ST7-AS1 HGNC STAB2 55576 genome.wustl.edu 37 12 104131462 104131462 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 104131462 104131462 C T SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known silent c.5601 p.L1867 0.056 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC STARD4 134429 genome.wustl.edu 37 5 110835787 110835787 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 110835787 110835787 C G SNP STARD4 ENST00000296632 human ensembl 70_37 -1 known missense c.415 p.D139H 0.996 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD4 HGNC STK32B 55351 genome.wustl.edu 37 4 5458578 5458578 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 5458578 5458578 C T SNP STK32B ENST00000282908 human ensembl 70_37 +1 known silent c.711 p.L237 0.973 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK32B HGNC STK33 65975 genome.wustl.edu 37 11 8494730 8494730 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 8494730 8494730 C G SNP STK33 ENST00000315204 human ensembl 70_37 -1 known missense c.319 p.E107Q 0.997 superfamily_Kinase-like_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 STK33 HGNC STK36 27148 genome.wustl.edu 37 2 219566632 219566632 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 219566632 219566632 C G SNP STK36 ENST00000295709 human ensembl 70_37 +1 known missense c.3848 p.S1283C 0.158 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK36 HGNC STRIP1 85369 genome.wustl.edu 37 1 110585728 110585728 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 110585728 110585728 G C SNP STRIP1 ENST00000369795 human ensembl 70_37 +1 known missense c.904 p.E302Q 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP1 HGNC SULT1B1 27284 genome.wustl.edu 37 4 70620485 70620485 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 70620485 70620485 C T SNP SULT1B1 ENST00000310613 human ensembl 70_37 -1 known missense c.180 p.M60I 0.993 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1B1 HGNC SULT2B1 6820 genome.wustl.edu 37 19 49100097 49100097 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 49100097 49100097 G A SNP SULT2B1 ENST00000201586 human ensembl 70_37 +1 known missense c.747 p.M249I 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT2B1 HGNC SUSD4 55061 genome.wustl.edu 37 1 223396808 223396808 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 223396808 223396808 C G SNP SUSD4 ENST00000483818 human ensembl 70_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors SUSD4 HGNC SUSD4 55061 genome.wustl.edu 37 1 223441956 223441956 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 223441956 223441956 C G SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known missense c.423 p.E141D 0.227 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC SV2C 22987 genome.wustl.edu 37 5 75581692 75581692 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 75581692 75581692 C T SNP SV2C ENST00000502798 human ensembl 70_37 +1 known silent c.1134 p.F378 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata - no_errors SV2C HGNC SVEP1 79987 genome.wustl.edu 37 9 113170526 113170526 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 113170526 113170526 C G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.7354 p.D2452H 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SVEP1 79987 genome.wustl.edu 37 9 113261352 113261352 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 113261352 113261352 C T SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known nonsense c.1650 p.W550* 1.000 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SWSAP1 126074 genome.wustl.edu 37 19 11486627 11486627 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 11486627 11486627 C T SNP SWSAP1 ENST00000312423 human ensembl 70_37 +1 known missense c.625 p.P209S 0.012 NULL NULL - no_errors SWSAP1 HGNC SYN1 6853 genome.wustl.edu 37 X 47435781 47435781 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47435781 47435781 C T SNP SYN1 ENST00000295987 human ensembl 70_37 -1 known nonsense c.1005 p.W335* 1.000 pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type,prints_Synapsin pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN1 HGNC SYNC 81493 genome.wustl.edu 37 1 33147407 33147407 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 33147407 33147407 G A SNP SYNC ENST00000373484 human ensembl 70_37 -1 known silent c.1413 p.F471 0.080 NULL pfam_F - no_errors SYNC HGNC SYNE1 23345 genome.wustl.edu 37 6 152783910 152783910 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 152783910 152783910 G C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.2213 p.S738C 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE2 23224 genome.wustl.edu 37 14 64518990 64518990 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64518990 64518990 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.8359 p.E2787K 0.079 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64519002 64519002 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64519002 64519002 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.8371 p.D2791Y 0.001 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64564841 64564841 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64564841 64564841 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.12283 p.E4095Q 0.100 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64565537 64565537 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64565537 64565537 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.12379 p.D4127N 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64608744 64608744 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 64608744 64608744 G A SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.15244 p.E5082K 0.934 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNGAP1 8831 genome.wustl.edu 37 6 33402938 33402938 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 33402938 33402938 G A SNP SYNGAP1 ENST00000418600 human ensembl 70_37 +1 known silent c.519 p.L173 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC SYS1 90196 genome.wustl.edu 37 20 43995671 43995671 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 43995671 43995671 C T SNP SYS1 ENST00000243918 human ensembl 70_37 +1 known silent c.387 p.L129 1.000 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 - no_errors SYS1 HGNC SYT4 6860 genome.wustl.edu 37 18 40851809 40851809 + RNA SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 40851809 40851809 G C SNP SYT4 ENST00000589479 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYT4 HGNC SZT2 23334 genome.wustl.edu 37 1 43886618 43886618 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 43886618 43886618 C G SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.1460 p.T487S 0.999 NULL NULL - no_errors SZT2 HGNC TAAR5 9038 genome.wustl.edu 37 6 132910460 132910460 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 132910460 132910460 G A SNP TAAR5 ENST00000258034 human ensembl 70_37 -1 known silent c.366 p.I122 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC TAF4 6874 genome.wustl.edu 37 20 60575694 60575694 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 60575694 60575694 G C SNP TAF4 ENST00000252996 human ensembl 70_37 -1 known missense c.2570 p.S857C 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC TANC1 85461 genome.wustl.edu 37 2 160086183 160086183 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 160086183 160086183 G C SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.4246 p.E1416Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC TANC1 85461 genome.wustl.edu 37 2 160086255 160086255 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 160086255 160086255 G A SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.4318 p.E1440K 0.992 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC TAOK1 57551 genome.wustl.edu 37 17 27869933 27869933 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 27869933 27869933 C G SNP TAOK1 ENST00000261716 human ensembl 70_37 +1 known missense c.2899 p.Q967E 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TAOK1 HGNC TARDBP 23435 genome.wustl.edu 37 1 11073843 11073843 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 11073843 11073843 C T SNP TARDBP ENST00000240185 human ensembl 70_37 +1 known missense c.59 p.S20L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TARDBP HGNC TARS2 80222 genome.wustl.edu 37 1 150463113 150463113 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 150463113 150463113 G A SNP TARS2 ENST00000369064 human ensembl 70_37 +1 known missense c.424 p.A142T 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC TBC1D10A 83874 genome.wustl.edu 37 22 30722721 30722721 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 30722721 30722721 G A SNP TBC1D10A ENST00000215790 human ensembl 70_37 -1 known silent c.150 p.F50 0.999 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC TBC1D2B 23102 genome.wustl.edu 37 15 78305568 78305568 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 78305568 78305568 G C SNP TBC1D2B ENST00000300584 human ensembl 70_37 -1 known missense c.1867 p.L623V 0.968 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC TBX19 9095 genome.wustl.edu 37 1 168274320 168274320 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 168274320 168274320 C G SNP TBX19 ENST00000367821 human ensembl 70_37 +1 known missense c.802 p.L268V 0.063 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC TBX20 57057 genome.wustl.edu 37 7 35284624 35284624 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 35284624 35284624 G C SNP TBX20 ENST00000408931 human ensembl 70_37 -1 known silent c.591 p.L197 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC TCF21 6943 genome.wustl.edu 37 6 134210781 134210781 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 134210781 134210781 C T SNP TCF21 ENST00000237316 human ensembl 70_37 +1 known silent c.246 p.N82 0.999 pfam_HLH_dom,superfamily_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF21 HGNC TCTN2 79867 genome.wustl.edu 37 12 124158229 124158229 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 124158229 124158229 C G SNP TCTN2 ENST00000303372 human ensembl 70_37 +1 known missense c.335 p.S112C 0.000 NULL pfam_DUF1619 - no_errors TCTN2 HGNC TCTN2 79867 genome.wustl.edu 37 12 124158264 124158264 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 124158264 124158264 C T SNP TCTN2 ENST00000303372 human ensembl 70_37 +1 known silent c.370 p.L124 0.964 NULL pfam_DUF1619 - no_errors TCTN2 HGNC TDGF1 6997 genome.wustl.edu 37 3 46620626 46620626 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 46620626 46620626 G C SNP TDGF1 ENST00000296145 human ensembl 70_37 +1 known missense c.77 p.G26A 0.916 pirsf_Cripto_growth_factor pfam_Cryptic/Cripto_CFC-dom,pirsf_Cripto_growth_factor,pfscan_EG-like_dom - no_errors TDGF1 HGNC TECTA 7007 genome.wustl.edu 37 11 120989131 120989131 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 120989131 120989131 G A SNP TECTA ENST00000264037 human ensembl 70_37 +1 known missense c.907 p.E303K 1.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC TEKT2 27285 genome.wustl.edu 37 1 36550776 36550776 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 36550776 36550776 G A SNP TEKT2 ENST00000207457 human ensembl 70_37 +1 known missense c.169 p.E57K 1.000 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC TENM1 10178 genome.wustl.edu 37 X 123538975 123538975 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 123538975 123538975 G A SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.5297 p.S1766L 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TENM2 57451 genome.wustl.edu 37 5 167489109 167489109 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 167489109 167489109 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.1354 p.E452K 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TENM2 57451 genome.wustl.edu 37 5 167671458 167671458 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 167671458 167671458 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known missense c.5554 p.D1852N 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC TENM3 55714 genome.wustl.edu 37 4 183664378 183664378 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 183664378 183664378 C T SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known silent c.3435 p.V1145 0.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC TEX15 56154 genome.wustl.edu 37 8 30700686 30700686 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 30700686 30700686 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.5848 p.E1950Q 0.008 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30701580 30701580 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 30701580 30701580 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.4954 p.E1652Q 1.000 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30704421 30704421 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 30704421 30704421 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.2113 p.E705K 0.557 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30704944 30704944 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 30704944 30704944 C G SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1590 p.L530F 0.000 NULL NULL - no_errors TEX15 HGNC TFF3 7033 genome.wustl.edu 37 21 43735589 43735589 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 43735589 43735589 G A SNP TFF3 ENST00000291525 human ensembl 70_37 -1 known missense c.46 p.P16S 0.000 NULL pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata - no_errors TFF3 HGNC TGIF1 7050 genome.wustl.edu 37 18 3456381 3456381 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 3456381 3456381 G C SNP TGIF1 ENST00000330513 human ensembl 70_37 +1 known missense c.433 p.E145Q 1.000 NULL pfam_Homeobox_KN_domain,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF1 HGNC THAP11 57215 genome.wustl.edu 37 16 67876870 67876870 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 67876870 67876870 C A SNP THAP11 ENST00000303596 human ensembl 70_37 +1 known missense c.413 p.S138Y 0.989 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP11 HGNC THAP3 90326 genome.wustl.edu 37 1 6688663 6688663 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 6688663 6688663 G A SNP THAP3 ENST00000054650 human ensembl 70_37 +1 known missense c.179 p.R60Q 0.018 pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC THEMIS 387357 genome.wustl.edu 37 6 128150975 128150975 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 128150975 128150975 G A SNP THEMIS ENST00000543064 human ensembl 70_37 -1 known missense c.355 p.H119Y 1.000 NULL NULL - no_errors THEMIS HGNC THNSL1 79896 genome.wustl.edu 37 10 25313422 25313422 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 25313422 25313422 C G SNP THNSL1 ENST00000376356 human ensembl 70_37 +1 known missense c.1270 p.Q424E 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Shikimate_kinase,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,prints_Shikimate_kinase,tigrfam_Thr_synthase_like - no_errors THNSL1 HGNC THOC1 9984 genome.wustl.edu 37 18 246446 246446 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 246446 246446 C G SNP THOC1 ENST00000261600 human ensembl 70_37 -1 known missense c.796 p.E266Q 1.000 pfam_THO_THOC1 pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death - no_errors THOC1 HGNC THSD7A 221981 genome.wustl.edu 37 7 11446088 11446088 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 11446088 11446088 C T SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.4076 p.G1359E 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC TIGD2 166815 genome.wustl.edu 37 4 90035089 90035089 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 90035089 90035089 C G SNP TIGD2 ENST00000317005 human ensembl 70_37 +1 known missense c.964 p.L322V 0.986 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC TIMELESS 8914 genome.wustl.edu 37 12 56815235 56815235 + Nonsense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56815235 56815235 G C SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known nonsense c.2768 p.S923* 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TIMELESS 8914 genome.wustl.edu 37 12 56822125 56822125 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56822125 56822125 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.1473 p.E491D 1.000 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TIMELESS 8914 genome.wustl.edu 37 12 56822160 56822160 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 56822160 56822160 C G SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known missense c.1438 p.E480Q 1.000 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TIMM10 26519 genome.wustl.edu 37 11 57296203 57296203 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 57296203 57296203 G C SNP TIMM10 ENST00000257245 human ensembl 70_37 -1 known missense c.260 p.S87C 0.743 NULL pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like - no_errors TIMM10 HGNC TIPARP 25976 genome.wustl.edu 37 3 156395966 156395966 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 156395966 156395966 G A SNP TIPARP ENST00000295924 human ensembl 70_37 +1 known silent c.480 p.Q160 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC TLR4 7099 genome.wustl.edu 37 9 120466742 120466742 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 120466742 120466742 G A SNP TLR4 ENST00000472304 human ensembl 70_37 +1 known rna NULL NULL 0.972 - - - no_errors TLR4 HGNC TMBIM1 64114 genome.wustl.edu 37 2 219142177 219142177 + Splice_Site SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 219142177 219142177 C G SNP TMBIM1 ENST00000258412 human ensembl 70_37 -1 known splice_site c.552-1 e8-1 1.000 - - - no_errors TMBIM1 HGNC TMC2 117532 genome.wustl.edu 37 20 2597898 2597898 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 2597898 2597898 C G SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known silent c.2121 p.L707 0.998 NULL pfam_TMC - no_errors TMC2 HGNC TMC2 117532 genome.wustl.edu 37 20 2621973 2621973 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 2621973 2621973 G T SNP TMC2 ENST00000358864 human ensembl 70_37 +1 known missense c.2697 p.K899N 0.217 NULL pfam_TMC - no_errors TMC2 HGNC TMCC2 9911 genome.wustl.edu 37 1 205197695 205197695 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 205197695 205197695 G A SNP TMCC2 ENST00000358024 human ensembl 70_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC TMEM132A 54972 genome.wustl.edu 37 11 60702840 60702840 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 60702840 60702840 G C SNP TMEM132A ENST00000005286 human ensembl 70_37 +1 known missense c.1956 p.L652F 0.992 NULL NULL - no_errors TMEM132A HGNC TMEM164 84187 genome.wustl.edu 37 X 109247278 109247278 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 109247278 109247278 G C SNP TMEM164 ENST00000372068 human ensembl 70_37 +1 known missense c.276 p.K92N 1.000 NULL NULL - no_errors TMEM164 HGNC TMEM169 92691 genome.wustl.edu 37 2 216964767 216964767 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 216964767 216964767 G A SNP TMEM169 ENST00000295658 human ensembl 70_37 +1 known silent c.396 p.L132 1.000 NULL NULL - no_errors TMEM169 HGNC TMEM176B 28959 genome.wustl.edu 37 7 150493471 150493471 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 150493471 150493471 C G SNP TMEM176B ENST00000326442 human ensembl 70_37 -1 known missense c.187 p.E63Q 0.000 superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC TMEM202 338949 genome.wustl.edu 37 15 72699036 72699036 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 72699036 72699036 G A SNP TMEM202 ENST00000341689 human ensembl 70_37 +1 known missense c.431 p.R144Q 0.000 NULL NULL - no_errors TMEM202 HGNC TMEM204 79652 genome.wustl.edu 37 16 1591971 1591971 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 1591971 1591971 C A SNP TMEM204 ENST00000253934 human ensembl 70_37 +1 known silent c.330 p.L110 0.151 NULL NULL - no_errors TMEM204 HGNC TMEM51 55092 genome.wustl.edu 37 1 15546027 15546027 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 15546027 15546027 G A SNP TMEM51 ENST00000376008 human ensembl 70_37 +1 known missense c.550 p.G184R 0.906 NULL NULL - no_errors TMEM51 HGNC TMF1 7110 genome.wustl.edu 37 3 69073265 69073265 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 69073265 69073265 G C SNP TMF1 ENST00000543976 human ensembl 70_37 -1 known missense c.3088 p.Q1030E 1.000 pfam_TMF_TATA-bd pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC TMPRSS11A 339967 genome.wustl.edu 37 4 68777208 68777208 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 68777208 68777208 C T SNP TMPRSS11A ENST00000334830 human ensembl 70_37 -1 known missense c.1118 p.G373E 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC TMPRSS11D 9407 genome.wustl.edu 37 4 68719872 68719872 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 68719872 68719872 G C SNP TMPRSS11D ENST00000283916 human ensembl 70_37 -1 known missense c.163 p.Q55E 0.003 pfam_SEA,smart_SEA,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11D HGNC TNS1 7145 genome.wustl.edu 37 2 218686477 218686477 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 218686477 218686477 G A SNP TNS1 ENST00000171887 human ensembl 70_37 -1 known silent c.3246 p.I1082 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC TNXB 7148 genome.wustl.edu 37 6 32065772 32065772 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 32065772 32065772 C G SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.204 p.E68D 0.997 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TOB2 10766 genome.wustl.edu 37 22 41832381 41832381 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 41832381 41832381 G A SNP TOB2 ENST00000327492 human ensembl 70_37 -1 known silent c.969 p.L323 1.000 NULL pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC TOM1L1 10040 genome.wustl.edu 37 17 53016346 53016346 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 53016346 53016346 G C SNP TOM1L1 ENST00000575882 human ensembl 70_37 +1 known missense c.1095 p.M365I 0.918 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC TOR1AIP2 163590 genome.wustl.edu 37 1 179820219 179820219 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 179820219 179820219 G A SNP TOR1AIP2 ENST00000367612 human ensembl 70_37 -1 known missense c.314 p.S105L 0.055 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP2 HGNC TPR 7175 genome.wustl.edu 37 1 186302371 186302371 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 186302371 186302371 G C SNP TPR ENST00000367478 human ensembl 70_37 -1 known missense c.5338 p.Q1780E 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC TPX2 22974 genome.wustl.edu 37 20 30385276 30385276 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 30385276 30385276 C G SNP TPX2 ENST00000340513 human ensembl 70_37 +1 known missense c.2011 p.Q671E 1.000 NULL pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot - no_errors TPX2 HGNC TRAPPC8 22878 genome.wustl.edu 37 18 29437732 29437732 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29437732 29437732 C G SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known missense c.2959 p.D987H 1.000 NULL NULL - no_errors TRAPPC8 HGNC TRH 7200 genome.wustl.edu 37 3 129694836 129694836 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 129694836 129694836 C G SNP TRH ENST00000302649 human ensembl 70_37 +1 known missense c.177 p.I59M 0.772 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC TRIM17 51127 genome.wustl.edu 37 1 228596276 228596276 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 228596276 228596276 C G SNP TRIM17 ENST00000295033 human ensembl 70_37 -1 known missense c.1060 p.E354Q 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,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 TRIM17 HGNC TRIM21 6737 genome.wustl.edu 37 11 4411252 4411252 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 4411252 4411252 C G SNP TRIM21 ENST00000254436 human ensembl 70_37 -1 known missense c.388 p.E130Q 0.990 prints_Znf_B-box_chordata pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,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,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC TRIM40 135644 genome.wustl.edu 37 6 30114945 30114945 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 30114945 30114945 C T SNP TRIM40 ENST00000376724 human ensembl 70_37 +1 known silent c.625 p.L209 0.003 NULL pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM40 HGNC TRIM7 81786 genome.wustl.edu 37 5 180631636 180631636 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 180631636 180631636 G C SNP TRIM7 ENST00000274773 human ensembl 70_37 -1 known missense c.475 p.R159G 0.996 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box,prints_Znf_B-box_chordata pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,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,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC TRIML2 205860 genome.wustl.edu 37 4 189026426 189026426 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 189026426 189026426 C T SNP TRIML2 ENST00000536972 human ensembl 70_37 -1 known missense c.97 p.D33N 0.933 pfam_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfscan_Znf_B-box - no_errors TRIML2 HGNC TRMU 55687 genome.wustl.edu 37 22 46733701 46733701 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 22 46733701 46733701 G A SNP TRMU ENST00000290846 human ensembl 70_37 +1 known missense c.108 p.M36I 1.000 pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC TRPV4 59341 genome.wustl.edu 37 12 110221551 110221551 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 110221551 110221551 C T SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known missense c.2491 p.E831K 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC TRPV4 59341 genome.wustl.edu 37 12 110222220 110222220 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 110222220 110222220 G A SNP TRPV4 ENST00000261740 human ensembl 70_37 -1 known missense c.2359 p.H787Y 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC TSC22D2 9819 genome.wustl.edu 37 3 150127342 150127342 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 150127342 150127342 G C SNP TSC22D2 ENST00000361875 human ensembl 70_37 +1 known missense c.205 p.E69Q 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC TSHZ2 128553 genome.wustl.edu 37 20 51872272 51872272 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 51872272 51872272 G C SNP TSHZ2 ENST00000371497 human ensembl 70_37 +1 known missense c.2275 p.E759Q 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC TSPAN8 7103 genome.wustl.edu 37 12 71537942 71537942 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 71537942 71537942 C T SNP TSPAN8 ENST00000247829 human ensembl 70_37 -1 known missense c.112 p.D38N 0.015 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC TSPEAR 54084 genome.wustl.edu 37 21 45929254 45929254 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 21 45929254 45929254 C T SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known missense c.1582 p.D528N 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC TTBK1 84630 genome.wustl.edu 37 6 43250774 43250774 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 43250774 43250774 G A SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.2296 p.E766K 0.904 NULL 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 TTBK1 HGNC TTBK2 146057 genome.wustl.edu 37 15 43044395 43044395 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 43044395 43044395 C G SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.3049 p.E1017Q 1.000 NULL 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 TTBK2 HGNC TTC12 54970 genome.wustl.edu 37 11 113212396 113212396 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 113212396 113212396 C T SNP TTC12 ENST00000478125 human ensembl 70_37 +1 known rna NULL NULL 0.102 - - - no_errors TTC12 HGNC TTC12 54970 genome.wustl.edu 37 11 113230727 113230727 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 113230727 113230727 G A SNP TTC12 ENST00000314756 human ensembl 70_37 +1 known silent c.1611 p.L537 0.983 superfamily_ARM-type_fold pfam_TPR-1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC TTC29 83894 genome.wustl.edu 37 4 147830196 147830196 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 147830196 147830196 C G SNP TTC29 ENST00000398886 human ensembl 70_37 -1 known missense c.460 p.E154Q 0.967 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC TTC30A 92104 genome.wustl.edu 37 2 178481445 178481445 + Missense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 178481445 178481445 C A SNP TTC30A ENST00000355689 human ensembl 70_37 -1 known missense c.1985 p.G662V 0.821 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC TTF2 8458 genome.wustl.edu 37 1 117626692 117626692 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 117626692 117626692 G A SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known silent c.1956 p.L652 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC TTLL6 284076 genome.wustl.edu 37 17 46868950 46868950 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 46868950 46868950 G A SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known silent c.1014 p.F338 0.965 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC TTN 7273 genome.wustl.edu 37 2 179396631 179396631 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 179396631 179396631 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.97007 p.R32336T 1.000 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 179437859 179437859 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 179437859 179437859 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.65296 p.D21766H 1.000 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 TTN 7273 genome.wustl.edu 37 2 179449409 179449409 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 179449409 179449409 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.57255 p.A19085 0.965 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 179501443 179501443 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 179501443 179501443 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.33307 p.E11103K 1.000 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 TTR 7276 genome.wustl.edu 37 18 29171890 29171890 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 29171890 29171890 C G SNP TTR ENST00000237014 human ensembl 70_37 +1 known missense c.25 p.L9V 0.978 NULL pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase - no_errors TTR HGNC TUB 7275 genome.wustl.edu 37 11 8119290 8119290 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 8119290 8119290 G C SNP TUB ENST00000305253 human ensembl 70_37 +1 known missense c.1080 p.K360N 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC TUBB3 10381 genome.wustl.edu 37 16 90001669 90001669 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 90001669 90001669 C T SNP TUBB3 ENST00000315491 human ensembl 70_37 +1 known silent c.810 p.F270 0.912 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_genename TUBGCP2 10844 genome.wustl.edu 37 10 135112976 135112976 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 135112976 135112976 C T SNP TUBGCP2 ENST00000543663 human ensembl 70_37 -1 known silent c.411 p.L137 1.000 NULL pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC TXLNB 167838 genome.wustl.edu 37 6 139583895 139583895 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 139583895 139583895 G A SNP TXLNB ENST00000358430 human ensembl 70_37 -1 known missense c.703 p.R235W 0.998 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNB HGNC TXNDC16 57544 genome.wustl.edu 37 14 52986004 52986004 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 52986004 52986004 G C SNP TXNDC16 ENST00000281741 human ensembl 70_37 -1 known missense c.400 p.L134V 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC TXNIP 10628 genome.wustl.edu 37 1 145440941 145440941 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 145440941 145440941 G C SNP TXNIP ENST00000369317 human ensembl 70_37 +1 known missense c.1028 p.R343P 0.798 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors TXNIP HGNC TYW5 129450 genome.wustl.edu 37 2 200820176 200820176 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 200820176 200820176 G A SNP TYW5 ENST00000354611 human ensembl 70_37 -1 known silent c.18 p.L6 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC U2SURP 23350 genome.wustl.edu 37 3 142735174 142735174 + Missense_Mutation SNP A A G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 142735174 142735174 A G SNP U2SURP ENST00000319822 human ensembl 70_37 +1 known missense c.397 p.K133E 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC U2SURP 23350 genome.wustl.edu 37 3 142773937 142773937 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 142773937 142773937 G C SNP U2SURP ENST00000319822 human ensembl 70_37 +1 known missense c.2927 p.R976T 1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_RNA_polymerase_II_lsu_CTD,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC UAP1 6675 genome.wustl.edu 37 1 162546701 162546701 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 162546701 162546701 C T SNP UAP1 ENST00000271469 human ensembl 70_37 +1 known nonsense c.415 p.Q139* 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC UAP1 6675 genome.wustl.edu 37 1 162560263 162560263 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 162560263 162560263 C T SNP UAP1 ENST00000271469 human ensembl 70_37 +1 known silent c.1320 p.F440 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1 HGNC UBA1 7317 genome.wustl.edu 37 X 47071825 47071825 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47071825 47071825 G A SNP UBA1 ENST00000335972 human ensembl 70_37 +1 known missense c.2467 p.D823N 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC UBE2J2 118424 genome.wustl.edu 37 1 1203298 1203298 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 1203298 1203298 C G SNP UBE2J2 ENST00000400930 human ensembl 70_37 -1 known missense c.75 p.K25N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC UBE2J2 118424 genome.wustl.edu 37 1 1203343 1203343 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 1203343 1203343 C T SNP UBE2J2 ENST00000400930 human ensembl 70_37 -1 known silent c.30 p.P10 0.016 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC UBN2 254048 genome.wustl.edu 37 7 138946461 138946461 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 138946461 138946461 G C SNP UBN2 ENST00000473989 human ensembl 70_37 +1 known missense c.1369 p.E457Q 0.994 NULL NULL - no_errors UBN2 HGNC UBQLN4 56893 genome.wustl.edu 37 1 156020186 156020186 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 156020186 156020186 C T SNP UBQLN4 ENST00000368309 human ensembl 70_37 -1 known missense c.637 p.D213N 0.999 smart_STI1_HS-bd pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC UBTD2 92181 genome.wustl.edu 37 5 171639088 171639088 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 171639088 171639088 C G SNP UBTD2 ENST00000393792 human ensembl 70_37 -1 known missense c.451 p.E151Q 0.999 NULL pfam_Ubiquitin,pfam_SUMO,pfscan_Ubiquitin_supergroup - no_errors UBTD2 HGNC UFL1 23376 genome.wustl.edu 37 6 96971061 96971061 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 96971061 96971061 G A SNP UFL1 ENST00000369278 human ensembl 70_37 +1 known silent c.117 p.L39 1.000 pfam_E3_UFM1_ligase_1 pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC UGT2B15 7366 genome.wustl.edu 37 4 69528803 69528803 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 69528803 69528803 G C SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.928 p.L310V 0.966 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC UHRF1BP1 54887 genome.wustl.edu 37 6 34826826 34826826 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 34826826 34826826 C T SNP UHRF1BP1 ENST00000192788 human ensembl 70_37 +1 known missense c.2693 p.S898L 1.000 NULL NULL - no_errors UHRF1BP1 HGNC UHRF2 115426 genome.wustl.edu 37 9 6421009 6421009 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 6421009 6421009 C G SNP UHRF2 ENST00000276893 human ensembl 70_37 +1 known missense c.251 p.S84C 1.000 NULL pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ULBP2 80328 genome.wustl.edu 37 6 150266620 150266620 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 150266620 150266620 G C SNP ULBP2 ENST00000367351 human ensembl 70_37 +1 known missense c.261 p.W87C 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP2 HGNC UNC79 57578 genome.wustl.edu 37 14 94038402 94038402 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 94038402 94038402 C T SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known nonsense c.1918 p.Q640* 1.000 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC UNK 85451 genome.wustl.edu 37 17 73813417 73813417 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73813417 73813417 G A SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.1343 p.R448K 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC UNK 85451 genome.wustl.edu 37 17 73818677 73818677 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73818677 73818677 G C SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2185 p.E729Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC UNK 85451 genome.wustl.edu 37 17 73820444 73820444 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 73820444 73820444 G C SNP UNK ENST00000293218 human ensembl 70_37 +1 known missense c.2607 p.E869D 0.989 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC USH2A 7399 genome.wustl.edu 37 1 216256809 216256809 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 216256809 216256809 C G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.5287 p.D1763H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC USP11 8237 genome.wustl.edu 37 X 47106541 47106541 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47106541 47106541 C G SNP USP11 ENST00000218348 human ensembl 70_37 +1 known missense c.2470 p.L824V 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP11 HGNC USP21 27005 genome.wustl.edu 37 1 161133352 161133352 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 161133352 161133352 G A SNP USP21 ENST00000289865 human ensembl 70_37 +1 known missense c.1057 p.D353N 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP21 HGNC USP36 57602 genome.wustl.edu 37 17 76794610 76794610 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 76794610 76794610 C G SNP USP36 ENST00000312010 human ensembl 70_37 -1 known missense c.3264 p.K1088N 0.995 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC USP4 7375 genome.wustl.edu 37 3 49349008 49349008 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49349008 49349008 G C SNP USP4 ENST00000265560 human ensembl 70_37 -1 known missense c.775 p.L259V 1.000 NULL pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP4 HGNC UTP14C 9724 genome.wustl.edu 37 13 52604768 52604768 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 52604768 52604768 G C SNP UTP14C ENST00000521776 human ensembl 70_37 +1 known missense c.1828 p.E610Q 1.000 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14C HGNC UVRAG 7405 genome.wustl.edu 37 11 75591011 75591011 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 75591011 75591011 G A SNP UVRAG ENST00000356136 human ensembl 70_37 +1 known missense c.359 p.G120E 1.000 smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC UVRAG 7405 genome.wustl.edu 37 11 75591018 75591018 + Frame_Shift_Del DEL G G - TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 75591018 75591018 G - DEL UVRAG ENST00000356136 human ensembl 70_37 +1 known frame_shift_del c.366 p.N123fs 0.998 smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors UVRAG HGNC UXS1 80146 genome.wustl.edu 37 2 106782514 106782514 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 106782514 106782514 C T SNP UXS1 ENST00000283148 human ensembl 70_37 -1 known missense c.120 p.M40I 1.000 pfam_UXS1_N pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC VARS2 57176 genome.wustl.edu 37 6 30889913 30889913 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 30889913 30889913 C G SNP VARS2 ENST00000541562 human ensembl 70_37 +1 known missense c.1917 p.F639L 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC VCAN 1462 genome.wustl.edu 37 5 82832806 82832806 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 82832806 82832806 G A SNP VCAN ENST00000513016 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VCAN HGNC VCPIP1 80124 genome.wustl.edu 37 8 67577872 67577872 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 67577872 67577872 C T SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.1322 p.R441K 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC VCPIP1 80124 genome.wustl.edu 37 8 67577894 67577894 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 67577894 67577894 C T SNP VCPIP1 ENST00000310421 human ensembl 70_37 -1 known missense c.1300 p.D434N 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC VDAC2 7417 genome.wustl.edu 37 10 76979068 76979068 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 76979068 76979068 C T SNP VDAC2 ENST00000313132 human ensembl 70_37 +1 known nonsense c.355 p.Q119* 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC2 HGNC VEGFC 7424 genome.wustl.edu 37 4 177713327 177713327 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 177713327 177713327 C T SNP VEGFC ENST00000280193 human ensembl 70_37 -1 known missense c.139 p.E47K 0.963 NULL pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFC HGNC VEPH1 79674 genome.wustl.edu 37 3 157081331 157081331 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 157081331 157081331 C G SNP VEPH1 ENST00000362010 human ensembl 70_37 -1 known missense c.1557 p.E519D 0.026 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC VGF 7425 genome.wustl.edu 37 7 100806313 100806313 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 100806313 100806313 C G SNP VGF ENST00000249330 human ensembl 70_37 -1 known missense c.1812 p.E604D 1.000 NULL NULL - no_errors VGF HGNC VILL 50853 genome.wustl.edu 37 3 38043241 38043241 + Nonsense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 38043241 38043241 G T SNP VILL ENST00000283713 human ensembl 70_37 +1 known nonsense c.1369 p.E457* 0.953 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC VIT 5212 genome.wustl.edu 37 2 36986229 36986229 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 36986229 36986229 C G SNP VIT ENST00000457137 human ensembl 70_37 +1 known missense c.527 p.S176C 0.000 NULL pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL - no_errors VIT HGNC VMP1 81671 genome.wustl.edu 37 17 57889099 57889099 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 57889099 57889099 C T SNP VMP1 ENST00000262291 human ensembl 70_37 +1 known silent c.864 p.F288 1.000 NULL NULL - no_errors VMP1 HGNC VPS11 55823 genome.wustl.edu 37 11 118940948 118940948 + RNA SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 118940948 118940948 C T SNP VPS11 ENST00000300793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC VPS13A 23230 genome.wustl.edu 37 9 79952270 79952270 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 79952270 79952270 G C SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.6195 p.K2065N 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VPS51 738 genome.wustl.edu 37 11 64864556 64864556 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 64864556 64864556 G C SNP VPS51 ENST00000279281 human ensembl 70_37 +1 known missense c.315 p.Q105H 1.000 pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10 pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC VRK3 51231 genome.wustl.edu 37 19 50482462 50482462 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 50482462 50482462 G A SNP VRK3 ENST00000316763 human ensembl 70_37 -1 known silent c.1314 p.L438 0.064 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_cat_dom - no_errors VRK3 HGNC VSIG2 23584 genome.wustl.edu 37 11 124621373 124621373 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 124621373 124621373 G C SNP VSIG2 ENST00000326621 human ensembl 70_37 -1 known missense c.165 p.F55L 0.904 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG2 HGNC VWA2 340706 genome.wustl.edu 37 10 116048875 116048875 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 10 116048875 116048875 C T SNP VWA2 ENST00000392982 human ensembl 70_37 +1 known silent c.1749 p.F583 0.929 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC WDR17 116966 genome.wustl.edu 37 4 177052785 177052785 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 177052785 177052785 C G SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.1066 p.Q356E 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC WDR19 57728 genome.wustl.edu 37 4 39217800 39217800 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 39217800 39217800 C T SNP WDR19 ENST00000399820 human ensembl 70_37 +1 known nonsense c.1219 p.R407* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC WDR3 10885 genome.wustl.edu 37 1 118482165 118482165 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 118482165 118482165 G A SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known silent c.645 p.L215 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC WDR3 10885 genome.wustl.edu 37 1 118491033 118491033 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 118491033 118491033 G A SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known silent c.1428 p.G476 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC WDR6 11180 genome.wustl.edu 37 3 49049138 49049138 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 49049138 49049138 G A SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.261 p.Q87 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC WDR60 55112 genome.wustl.edu 37 7 158723168 158723168 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 158723168 158723168 C G SNP WDR60 ENST00000407559 human ensembl 70_37 +1 known silent c.2508 p.V836 0.991 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC WDR62 284403 genome.wustl.edu 37 19 36595563 36595563 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 36595563 36595563 G C SNP WDR62 ENST00000401500 human ensembl 70_37 +1 known missense c.4297 p.D1433H 0.962 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC TBC1D31 93594 genome.wustl.edu 37 8 124140567 124140567 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 124140567 124140567 G A SNP WDR67 ENST00000287380 human ensembl 70_37 +1 known missense c.1931 p.R644K 0.712 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC TBC1D31 93594 genome.wustl.edu 37 8 124146362 124146362 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 124146362 124146362 G C SNP WDR67 ENST00000287380 human ensembl 70_37 +1 known missense c.2415 p.M805I 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors WDR67 HGNC WDR73 84942 genome.wustl.edu 37 15 85191128 85191128 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 85191128 85191128 C G SNP WDR73 ENST00000434634 human ensembl 70_37 -1 known missense c.345 p.E115D 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR73 HGNC WDR75 84128 genome.wustl.edu 37 2 190328666 190328666 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 190328666 190328666 G C SNP WDR75 ENST00000314761 human ensembl 70_37 +1 known missense c.1092 p.Q364H 0.798 pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC WFIKKN2 124857 genome.wustl.edu 37 17 48917322 48917322 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 48917322 48917322 G C SNP WFIKKN2 ENST00000311378 human ensembl 70_37 +1 known missense c.673 p.E225Q 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC WIF1 11197 genome.wustl.edu 37 12 65456282 65456282 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 65456282 65456282 C G SNP WIF1 ENST00000286574 human ensembl 70_37 -1 known missense c.805 p.E269Q 1.000 smart_EG-like_dom pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC XAB2 56949 genome.wustl.edu 37 19 7689278 7689278 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 7689278 7689278 G A SNP XAB2 ENST00000358368 human ensembl 70_37 -1 known silent c.876 p.F292 1.000 smart_HAT smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC XAB2 56949 genome.wustl.edu 37 19 7693181 7693181 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 7693181 7693181 C T SNP XAB2 ENST00000358368 human ensembl 70_37 -1 known missense c.55 p.E19K 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC XIRP2 129446 genome.wustl.edu 37 2 168108178 168108178 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 168108178 168108178 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known missense c.10276 p.E3426K 0.983 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC XIST 7503 genome.wustl.edu 37 X 73043756 73043756 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 73043756 73043756 G A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.243 - - - no_errors XIST HGNC XPO6 23214 genome.wustl.edu 37 16 28192332 28192332 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 28192332 28192332 G C SNP XPO6 ENST00000304658 human ensembl 70_37 -1 known silent c.24 p.L8 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC YAF2 10138 genome.wustl.edu 37 12 42554402 42554402 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 42554402 42554402 C T SNP YAF2 ENST00000442791 human ensembl 70_37 -1 known missense c.604 p.E202K 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC YAF2 10138 genome.wustl.edu 37 12 42554468 42554468 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 42554468 42554468 C G SNP YAF2 ENST00000442791 human ensembl 70_37 -1 known missense c.538 p.D180H 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC YBX2 51087 genome.wustl.edu 37 17 7196799 7196799 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 7196799 7196799 G T SNP YBX2 ENST00000007699 human ensembl 70_37 -1 known silent c.330 p.I110 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC YIPF6 286451 genome.wustl.edu 37 X 67751726 67751726 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 67751726 67751726 C T SNP YIPF6 ENST00000462683 human ensembl 70_37 +1 known missense c.596 p.S199F 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF6 HGNC YLPM1 56252 genome.wustl.edu 37 14 75264371 75264371 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 75264371 75264371 G A SNP YLPM1 ENST00000325680 human ensembl 70_37 +1 known missense c.2371 p.D791N 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 Uniprot_genename ZAK 51776 genome.wustl.edu 37 2 174086208 174086208 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 174086208 174086208 G A SNP ZAK ENST00000338983 human ensembl 70_37 +1 known missense c.1318 p.D440N 1.000 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 MLTK Uniprot_genename ZBTB39 9880 genome.wustl.edu 37 12 57397132 57397132 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 57397132 57397132 C G SNP ZBTB39 ENST00000300101 human ensembl 70_37 -1 known missense c.1570 p.E524Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB39 HGNC ZBTB4 57659 genome.wustl.edu 37 17 7369795 7369795 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 7369795 7369795 G C SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known missense c.326 p.S109C 0.995 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ZC3H13 23091 genome.wustl.edu 37 13 46594685 46594685 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 13 46594685 46594685 G A SNP ZC3H13 ENST00000242848 human ensembl 70_37 -1 known missense c.347 p.S116F 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ZC3HAV1 56829 genome.wustl.edu 37 7 138758630 138758630 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 138758630 138758630 G A SNP ZC3HAV1 ENST00000242351 human ensembl 70_37 -1 known missense c.1844 p.S615F 0.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ZC3HAV1 56829 genome.wustl.edu 37 7 138764300 138764300 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 7 138764300 138764300 G C SNP ZC3HAV1 ENST00000242351 human ensembl 70_37 -1 known missense c.1387 p.Q463E 0.001 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ZCCHC2 54877 genome.wustl.edu 37 18 60237357 60237357 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 60237357 60237357 C G SNP ZCCHC2 ENST00000269499 human ensembl 70_37 +1 known missense c.1868 p.S623C 1.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ZCCHC5 203430 genome.wustl.edu 37 X 77913090 77913090 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 77913090 77913090 C T SNP ZCCHC5 ENST00000321110 human ensembl 70_37 -1 known silent c.828 p.V276 0.618 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ZEB2 9839 genome.wustl.edu 37 2 145147260 145147260 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 145147260 145147260 C T SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known missense c.3403 p.E1135K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ZFC3H1 196441 genome.wustl.edu 37 12 72056802 72056802 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 72056802 72056802 G C SNP ZFC3H1 ENST00000378743 human ensembl 70_37 -1 known missense c.589 p.R197G 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ZFP36L1 677 genome.wustl.edu 37 14 69262694 69262694 + Silent SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 69262694 69262694 C G SNP ZFP36L1 ENST00000408913 human ensembl 70_37 -1 known silent c.318 p.S106 0.000 NULL NULL - no_errors ZFP36L1 HGNC ZFP42 132625 genome.wustl.edu 37 4 188923976 188923976 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 188923976 188923976 G A SNP ZFP42 ENST00000326866 human ensembl 70_37 +1 known silent c.15 p.L5 0.179 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ZFP57 346171 genome.wustl.edu 37 6 29643801 29643801 + Missense_Mutation SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 29643801 29643801 G T SNP ZFP57 ENST00000488757 human ensembl 70_37 -1 known missense c.159 p.F53L 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZFP57 HGNC ZFP91 80829 genome.wustl.edu 37 11 58378523 58378523 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 11 58378523 58378523 G C SNP ZFP91 ENST00000316059 human ensembl 70_37 +1 known missense c.718 p.E240Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ZFYVE16 9765 genome.wustl.edu 37 5 79747465 79747465 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 5 79747465 79747465 G C SNP ZFYVE16 ENST00000338008 human ensembl 70_37 +1 known missense c.3544 p.E1182Q 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ZFYVE20 64145 genome.wustl.edu 37 3 15131981 15131981 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 15131981 15131981 C T SNP ZFYVE20 ENST00000253699 human ensembl 70_37 -1 known missense c.214 p.E72K 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68257344 68257344 + Silent SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 14 68257344 68257344 C A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.2700 p.R900 0.541 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZHX1 11244 genome.wustl.edu 37 8 124267638 124267638 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 124267638 124267638 G C SNP ZHX1 ENST00000297857 human ensembl 70_37 -1 known missense c.549 p.I183M 0.996 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ZNF233 353355 genome.wustl.edu 37 19 44778242 44778242 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 44778242 44778242 G C SNP ZNF233 ENST00000391958 human ensembl 70_37 +1 known missense c.1429 p.E477Q 1.000 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 ZNF233 HGNC ZNF236 7776 genome.wustl.edu 37 18 74616407 74616407 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 18 74616407 74616407 G C SNP ZNF236 ENST00000253159 human ensembl 70_37 +1 known missense c.1960 p.D654H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ZNF276 92822 genome.wustl.edu 37 16 89804295 89804295 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 89804295 89804295 C T SNP ZNF276 ENST00000443381 human ensembl 70_37 +1 known missense c.1556 p.S519L 1.000 pfscan_Znf_C2H2 pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ZNF318 24149 genome.wustl.edu 37 6 43322623 43322623 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 43322623 43322623 C G SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.2449 p.E817Q 0.912 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF334 55713 genome.wustl.edu 37 20 45131502 45131502 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 45131502 45131502 C T SNP ZNF334 ENST00000347606 human ensembl 70_37 -1 known missense c.476 p.R159K 0.000 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 ZNF334 HGNC ZNF384 171017 genome.wustl.edu 37 12 6782423 6782423 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 12 6782423 6782423 C T SNP ZNF384 ENST00000361959 human ensembl 70_37 -1 known silent c.870 p.E290 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ZNF41 7592 genome.wustl.edu 37 X 47307881 47307881 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b X 47307881 47307881 G C SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.1318 p.Q440E 1.000 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 ZNF41 HGNC ZNF418 147686 genome.wustl.edu 37 19 58438814 58438814 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 58438814 58438814 G A SNP ZNF418 ENST00000396147 human ensembl 70_37 -1 known silent c.735 p.V245 0.000 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 ZNF418 HGNC ZSCAN32 54925 genome.wustl.edu 37 16 3433401 3433401 + Silent SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 3433401 3433401 G C SNP ZNF434 ENST00000396846 human ensembl 70_37 -1 known silent c.1545 p.L515 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF434 HGNC ZNF484 83744 genome.wustl.edu 37 9 95610231 95610231 + Nonsense_Mutation SNP C C A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 9 95610231 95610231 C A SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known nonsense c.844 p.E282* 0.000 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 ZNF484 HGNC ZNF573 126231 genome.wustl.edu 37 19 38230352 38230352 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 38230352 38230352 G C SNP ZNF573 ENST00000590414 human ensembl 70_37 -1 known missense c.1039 p.L347V 0.003 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 ZNF573 HGNC ZNF607 84775 genome.wustl.edu 37 19 38189024 38189024 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 38189024 38189024 C G SNP ZNF607 ENST00000355202 human ensembl 70_37 -1 known missense c.2008 p.E670Q 1.000 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 ZNF607 HGNC ZNF619 285267 genome.wustl.edu 37 3 40528735 40528735 + Nonsense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 3 40528735 40528735 C G SNP ZNF619 ENST00000447116 human ensembl 70_37 +1 known nonsense c.854 p.S285* 0.009 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 ZNF619 HGNC ZNF626 199777 genome.wustl.edu 37 19 20808319 20808319 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 20808319 20808319 C G SNP ZNF626 ENST00000601440 human ensembl 70_37 -1 known missense c.364 p.E122Q 0.124 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 ZNF626 HGNC ZNF646 9726 genome.wustl.edu 37 16 31089929 31089929 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 31089929 31089929 G C SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.2284 p.E762Q 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF646 9726 genome.wustl.edu 37 16 31090025 31090025 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 31090025 31090025 G C SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known missense c.2380 p.D794H 0.062 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF687 57592 genome.wustl.edu 37 1 151262918 151262918 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 151262918 151262918 G C SNP ZNF687 ENST00000324048 human ensembl 70_37 +1 known missense c.3088 p.E1030Q 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ZNF703 80139 genome.wustl.edu 37 8 37556024 37556024 + Silent SNP G G T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 8 37556024 37556024 G T SNP ZNF703 ENST00000331569 human ensembl 70_37 +1 known silent c.1605 p.R535 1.000 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ZNF720 124411 genome.wustl.edu 37 16 31733961 31733961 + Nonsense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 16 31733961 31733961 C T SNP ZNF720 ENST00000529943 human ensembl 70_37 +1 known nonsense c.31 p.Q11* 0.961 NULL NULL - no_errors ZNF720 HGNC ZNF724P 440519 genome.wustl.edu 37 19 23414089 23414089 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 23414089 23414089 C G SNP ZNF724P ENST00000597037 human ensembl 70_37 -1 putative missense c.205 p.E69Q 0.013 pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF724P HGNC ZNF750 79755 genome.wustl.edu 37 17 80789825 80789826 + Frame_Shift_Ins INS - - T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 80789825 80789826 - T INS ZNF750 ENST00000269394 human ensembl 70_37 -1 known frame_shift_ins c.506_505 p.R169fs 1.000:1.000 NULL NULL - no_errors ZNF750 HGNC ZNF750 79755 genome.wustl.edu 37 17 80789969 80789969 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 80789969 80789969 C T SNP ZNF750 ENST00000269394 human ensembl 70_37 -1 known missense c.362 p.G121E 0.000 NULL NULL - no_errors ZNF750 HGNC ZNF76 7629 genome.wustl.edu 37 6 35260389 35260389 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 6 35260389 35260389 G A SNP ZNF76 ENST00000373953 human ensembl 70_37 +1 known silent c.990 p.S330 0.003 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ZNF814 730051 genome.wustl.edu 37 19 58385050 58385050 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 58385050 58385050 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known missense c.1708 p.H570Y 0.988 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 ZNF814 HGNC ZNF831 128611 genome.wustl.edu 37 20 57768813 57768813 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 57768813 57768813 C T SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel silent c.2739 p.P913 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ZNF876P 642280 genome.wustl.edu 37 4 247422 247422 + RNA SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 4 247422 247422 G A SNP ZNF876P ENST00000356347 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors ZNF876P HGNC ZNF878 729747 genome.wustl.edu 37 19 12155223 12155223 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 12155223 12155223 C T SNP ZNF878 ENST00000602107 human ensembl 70_37 -1 known silent c.1134 p.K378 0.020 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 ZNF878 HGNC ZNF91 7644 genome.wustl.edu 37 19 23543184 23543184 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 23543184 23543184 G A SNP ZNF91 ENST00000300619 human ensembl 70_37 -1 known missense c.2597 p.S866F 0.000 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 ZNF91 HGNC ZNFX1 57169 genome.wustl.edu 37 20 47870271 47870271 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 20 47870271 47870271 C G SNP ZNFX1 ENST00000371752 human ensembl 70_37 -1 known missense c.3037 p.E1013Q 1.000 NULL superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ZP4 57829 genome.wustl.edu 37 1 238048827 238048827 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 238048827 238048827 G C SNP ZP4 ENST00000366570 human ensembl 70_37 -1 known missense c.1024 p.L342V 0.997 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ZP4 57829 genome.wustl.edu 37 1 238053866 238053866 + Missense_Mutation SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 1 238053866 238053866 C T SNP ZP4 ENST00000366570 human ensembl 70_37 -1 known missense c.70 p.E24K 0.000 NULL pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ZSCAN1 284312 genome.wustl.edu 37 19 58565155 58565155 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 19 58565155 58565155 G A SNP ZSCAN1 ENST00000282326 human ensembl 70_37 +1 known silent c.963 p.P321 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ZSCAN29 146050 genome.wustl.edu 37 15 43658612 43658612 + Silent SNP C C T TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 15 43658612 43658612 C T SNP ZSCAN29 ENST00000396976 human ensembl 70_37 -1 known silent c.918 p.Q306 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ZSWIM2 151112 genome.wustl.edu 37 2 187693420 187693420 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 2 187693420 187693420 G A SNP ZSWIM2 ENST00000295131 human ensembl 70_37 -1 known missense c.1193 p.S398L 0.000 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ZZEF1 23140 genome.wustl.edu 37 17 3928361 3928361 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0a3d0def-beb2-4b64-b1a6-4b44d8544896 c1ad28fe-984a-4158-aaaa-bdb09b70d86b 17 3928361 3928361 G A SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known missense c.6944 p.S2315F 0.079 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC