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 ABCA10 10349 genome.wustl.edu 37 17 67149465 67149465 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 67149465 67149465 C T SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known missense c.4117 p.E1373K 0.001 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC AOC1 26 genome.wustl.edu 37 7 150557683 150557683 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 150557683 150557683 G C SNP ABP1 ENST00000416793 human ensembl 70_37 +1 known missense c.2008 p.E670Q 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors ABP1 HGNC ACAN 176 genome.wustl.edu 37 15 89381937 89381937 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 89381937 89381937 G A SNP ACAN ENST00000439576 human ensembl 70_37 +1 known silent c.114 p.P38 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like 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 ADAMTS13 11093 genome.wustl.edu 37 9 136308556 136308556 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 136308556 136308556 G A SNP ADAMTS13 ENST00000371929 human ensembl 70_37 +1 known missense c.2294 p.R765Q 0.008 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC AFF3 3899 genome.wustl.edu 37 2 100343566 100343566 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 100343566 100343566 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.1139 p.S380N 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AHCTF1 25909 genome.wustl.edu 37 1 247063409 247063409 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 247063409 247063409 G C SNP AHCTF1 ENST00000326225 human ensembl 70_37 -1 known missense c.1417 p.P473A 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC AHNAK2 113146 genome.wustl.edu 37 14 105411033 105411033 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 105411033 105411033 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.10755 p.L3585 0.008 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AKAP4 8852 genome.wustl.edu 37 X 49957835 49957835 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 49957835 49957835 T A SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known missense c.1529 p.Q510L 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ANKH 56172 genome.wustl.edu 37 5 14741993 14741993 + Silent SNP T T G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 14741993 14741993 T G SNP ANKH ENST00000284268 human ensembl 70_37 -1 known silent c.954 p.T318 0.733 pfam_ANKH pfam_ANKH - no_errors ANKH HGNC ANKRD10 55608 genome.wustl.edu 37 13 111552900 111552900 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 111552900 111552900 G A SNP ANKRD10 ENST00000475809 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ANKRD10 HGNC ANKRD11 29123 genome.wustl.edu 37 16 89349405 89349405 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 89349405 89349405 C T SNP ANKRD11 ENST00000301030 human ensembl 70_37 -1 known missense c.3545 p.R1182K 0.023 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ANKRD30B 374860 genome.wustl.edu 37 18 14851937 14851937 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 14851937 14851937 G A SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.3637 p.G1213R 0.991 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ANTXR1 84168 genome.wustl.edu 37 2 69304566 69304566 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 69304566 69304566 T A SNP ANTXR1 ENST00000303714 human ensembl 70_37 +1 known missense c.588 p.D196E 0.663 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ANTXR1 84168 genome.wustl.edu 37 2 69304567 69304567 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 69304567 69304567 C T SNP ANTXR1 ENST00000303714 human ensembl 70_37 +1 known missense c.589 p.H197Y 0.950 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC AP4B1 10717 genome.wustl.edu 37 1 114438007 114438007 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 114438007 114438007 T A SNP AP4B1 ENST00000256658 human ensembl 70_37 -1 known missense c.1900 p.T634S 1.000 pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC AP4B1 10717 genome.wustl.edu 37 1 114447340 114447340 + RNA SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 114447340 114447340 C G SNP AP4B1 ENST00000484201 human ensembl 70_37 -1 known rna NULL NULL 0.066 - - - no_errors AP4B1 HGNC APLF 200558 genome.wustl.edu 37 2 68753297 68753297 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 68753297 68753297 G A SNP APLF ENST00000303795 human ensembl 70_37 +1 known missense c.727 p.E243K 0.921 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC APOL1 8542 genome.wustl.edu 37 22 36661428 36661428 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 36661428 36661428 C T SNP APOL1 ENST00000319136 human ensembl 70_37 +1 known silent c.594 p.L198 0.000 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC ARAP3 64411 genome.wustl.edu 37 5 141036112 141036112 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 141036112 141036112 G C SNP ARAP3 ENST00000239440 human ensembl 70_37 -1 known missense c.3748 p.L1250V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,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 ARAP3 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120300164 120300164 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 120300164 120300164 G A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known missense c.544 p.V182I 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARPP21 10777 genome.wustl.edu 37 3 35785442 35785442 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 35785442 35785442 G A SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.2020 p.A674T 0.147 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ASB10 136371 genome.wustl.edu 37 7 150884266 150884267 + Frame_Shift_Ins INS - - AG TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 150884266 150884267 - AG INS ASB10 ENST00000422024 human ensembl 70_37 -1 known frame_shift_ins c.87_86 p.P30fs 0.000:0.003 NULL 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,prints_Ankyrin_rpt - no_errors ASB10 HGNC ASTN1 460 genome.wustl.edu 37 1 176918332 176918332 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 176918332 176918332 G A SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known silent c.2067 p.L689 1.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ATP10B 23120 genome.wustl.edu 37 5 160114820 160114820 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 160114820 160114820 C G SNP ATP10B ENST00000327245 human ensembl 70_37 -1 known missense c.262 p.E88Q 0.998 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 ATP10B HGNC ATP2B2 491 genome.wustl.edu 37 3 10370260 10370260 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 10370260 10370260 C A SNP ATP2B2 ENST00000467702 human ensembl 70_37 -1 known rna NULL NULL 0.852 - - - no_errors ATP2B2 HGNC B3GNT5 84002 genome.wustl.edu 37 3 182988037 182988037 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 182988037 182988037 C G SNP B3GNT5 ENST00000326505 human ensembl 70_37 +1 known missense c.451 p.Q151E 0.001 pfam_Glyco_trans_31 pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC BAI2 576 genome.wustl.edu 37 1 32202035 32202035 + RNA SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 32202035 32202035 A G SNP BAI2 ENST00000465256 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BAI2 HGNC BAZ1B 9031 genome.wustl.edu 37 7 72856672 72856672 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 72856672 72856672 G C SNP BAZ1B ENST00000339594 human ensembl 70_37 -1 known missense c.4306 p.L1436V 0.995 superfamily_Bromodomain,smart_Bromodomain 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 BRIP1 83990 genome.wustl.edu 37 17 59760977 59760977 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 59760977 59760977 C T SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known missense c.3430 p.E1144K 0.967 NULL pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC BSDC1 55108 genome.wustl.edu 37 1 32834008 32834008 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 32834008 32834008 C A SNP BSDC1 ENST00000341071 human ensembl 70_37 -1 known missense c.1351 p.G451C 0.000 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors BSDC1 HGNC BTBD18 643376 genome.wustl.edu 37 11 57512268 57512268 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 57512268 57512268 C T SNP BTBD18 ENST00000422652 human ensembl 70_37 -1 known missense c.1477 p.E493K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC BTBD8 284697 genome.wustl.edu 37 1 92613279 92613279 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 92613279 92613279 G T SNP BTBD8 ENST00000342818 human ensembl 70_37 +1 known missense c.1058 p.R353I 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC BTD 686 genome.wustl.edu 37 3 15686759 15686759 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 15686759 15686759 C G SNP BTD ENST00000303498 human ensembl 70_37 +1 known missense c.1396 p.L466V 0.000 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC C12orf40 283461 genome.wustl.edu 37 12 40076812 40076812 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 40076812 40076812 G C SNP C12orf40 ENST00000324616 human ensembl 70_37 +1 known missense c.1086 p.L362F 0.003 NULL NULL - no_errors C12orf40 HGNC C14orf159 80017 genome.wustl.edu 37 14 91634013 91634013 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 91634013 91634013 G A SNP C14orf159 ENST00000298858 human ensembl 70_37 +1 known missense c.458 p.R153K 0.056 NULL NULL - no_errors C14orf159 HGNC C17orf72 92340 genome.wustl.edu 37 17 62078827 62078827 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 62078827 62078827 G A SNP C17orf72 ENST00000577953 human ensembl 70_37 +1 known missense c.244 p.E82K 0.988 NULL NULL - no_errors C17orf72 HGNC C1orf112 55732 genome.wustl.edu 37 1 169798460 169798460 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 169798460 169798460 C G SNP C1orf112 ENST00000286031 human ensembl 70_37 +1 known missense c.1184 p.S395C 1.000 NULL NULL - no_errors C1orf112 HGNC C20orf112 140688 genome.wustl.edu 37 20 31035550 31035550 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 31035550 31035550 C G SNP C20orf112 ENST00000359676 human ensembl 70_37 -1 known missense c.1160 p.S387T 1.000 NULL NULL - no_errors C20orf112 HGNC C8orf34 116328 genome.wustl.edu 37 8 69699708 69699708 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 69699708 69699708 C T SNP C8orf34 ENST00000518698 human ensembl 70_37 +1 known missense c.1486 p.H496Y 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC CACNA1E 777 genome.wustl.edu 37 1 181701777 181701777 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 181701777 181701777 G A SNP CACNA1E ENST00000367573 human ensembl 70_37 +1 known missense c.2555 p.R852H 0.966 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC CACNA1G 8913 genome.wustl.edu 37 17 48653074 48653074 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 48653074 48653074 C G SNP CACNA1G ENST00000359106 human ensembl 70_37 +1 known silent c.1311 p.L437 1.000 prints_VDCC_T_a1su pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC CADM2 253559 genome.wustl.edu 37 3 85008741 85008741 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 85008741 85008741 C A SNP CADM2 ENST00000473523 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors CADM2 HGNC CADPS 8618 genome.wustl.edu 37 3 62518688 62518688 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 62518688 62518688 C T SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.2149 p.A717T 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC CAMK2A 815 genome.wustl.edu 37 5 149652711 149652711 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 149652711 149652711 G A SNP CAMK2A ENST00000398376 human ensembl 70_37 -1 known missense c.74 p.S25L 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC CASD1 64921 genome.wustl.edu 37 7 94139496 94139496 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 94139496 94139496 G T SNP CASD1 ENST00000297273 human ensembl 70_37 +1 known missense c.100 p.A34S 0.481 superfamily_Cyclin-like pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC CBLL1 79872 genome.wustl.edu 37 7 107398799 107398799 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 107398799 107398799 G C SNP CBLL1 ENST00000440859 human ensembl 70_37 +1 known missense c.652 p.E218Q 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC CCDC13 152206 genome.wustl.edu 37 3 42799773 42799773 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 42799773 42799773 T A SNP CCDC13 ENST00000310232 human ensembl 70_37 -1 known missense c.65 p.Q22L 1.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC CCDC40 55036 genome.wustl.edu 37 17 78064145 78064146 + In_Frame_Ins INS - - CAC TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 78064145 78064146 - CAC INS CCDC40 ENST00000374877 human ensembl 70_37 +1 known in_frame_ins c.3040_3041 p.1014in_frame_insT 0.064:0.067 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC CCDC74A 90557 genome.wustl.edu 37 2 132288392 132288392 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 132288392 132288392 C G SNP CCDC74A ENST00000295171 human ensembl 70_37 +1 known missense c.536 p.S179C 0.222 NULL NULL - no_errors CCDC74A HGNC CCDC8 83987 genome.wustl.edu 37 19 46915485 46915485 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 46915485 46915485 G A SNP CCDC8 ENST00000307522 human ensembl 70_37 -1 known missense c.583 p.R195W 0.994 NULL NULL - no_errors CCDC8 HGNC CD79B 974 genome.wustl.edu 37 17 62007658 62007658 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 62007658 62007658 C G SNP CD79B ENST00000392795 human ensembl 70_37 -1 known missense c.209 p.S70T 0.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like - no_errors CD79B HGNC CDKN2A 1029 genome.wustl.edu 37 9 21971096 21971096 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 21971096 21971096 C T SNP CDKN2A ENST00000361570 human ensembl 70_37 -1 known missense c.428 p.G143E 1.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC CEBPZ 10153 genome.wustl.edu 37 2 37444136 37444136 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 37444136 37444136 G T SNP CEBPZ ENST00000234170 human ensembl 70_37 -1 known silent c.2199 p.T733 0.997 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC CEP192 55125 genome.wustl.edu 37 18 13049854 13049854 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 13049854 13049854 C G SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.2981 p.S994C 1.000 NULL NULL - no_errors CEP192 HGNC CES1 1066 genome.wustl.edu 37 16 55862856 55862856 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 55862856 55862856 T A SNP CES1 ENST00000360526 human ensembl 70_37 -1 known missense c.83 p.D28V 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC CES1 1066 genome.wustl.edu 37 16 55862859 55862859 + Missense_Mutation SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 55862859 55862859 A T SNP CES1 ENST00000360526 human ensembl 70_37 -1 known missense c.80 p.V27E 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC CFTR 1080 genome.wustl.edu 37 7 117251838 117251838 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 117251838 117251838 A G SNP CFTR ENST00000003084 human ensembl 70_37 +1 known missense c.3343 p.T1115A 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,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 CHD8 57680 genome.wustl.edu 37 14 21861276 21861276 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 21861276 21861276 C G SNP CHD8 ENST00000399982 human ensembl 70_37 -1 known missense c.6457 p.E2153Q 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 CHI3L2 1117 genome.wustl.edu 37 1 111777568 111777568 + Missense_Mutation SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 111777568 111777568 A T SNP CHI3L2 ENST00000369748 human ensembl 70_37 +1 known missense c.369 p.E123D 0.036 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L2 HGNC CHRNA7 1139 genome.wustl.edu 37 15 32460411 32460411 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 32460411 32460411 C A SNP CHRNA7 ENST00000454250 human ensembl 70_37 +1 known missense c.1348 p.L450M 0.617 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC CLEC3B 7123 genome.wustl.edu 37 3 45077228 45077228 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 45077228 45077228 G A SNP CLEC3B ENST00000296130 human ensembl 70_37 +1 known missense c.421 p.E141K 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC CLNS1A 1207 genome.wustl.edu 37 11 77340878 77340878 + Missense_Mutation SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 77340878 77340878 A T SNP CLNS1A ENST00000525428 human ensembl 70_37 -1 known missense c.192 p.H64Q 1.000 prints_ICln_channel prints_ICln_channel - no_errors CLNS1A HGNC CMSS1 84319 genome.wustl.edu 37 3 99865816 99865816 + Splice_Site SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 99865816 99865816 G A SNP CMSS1 ENST00000421999 human ensembl 70_37 +1 known splice_site c.65-1 e2-1 0.053 - - - no_errors CMSS1 HGNC CNTN3 5067 genome.wustl.edu 37 3 74535632 74535632 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 74535632 74535632 G T SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known missense c.333 p.S111R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN3 HGNC CNTN5 53942 genome.wustl.edu 37 11 99827718 99827718 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 99827718 99827718 C G SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known missense c.854 p.T285R 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN5 HGNC CNTNAP1 8506 genome.wustl.edu 37 17 40839792 40839792 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 40839792 40839792 G T SNP CNTNAP1 ENST00000264638 human ensembl 70_37 +1 known missense c.1099 p.G367C 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC COG4 25839 genome.wustl.edu 37 16 70530310 70530310 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 70530310 70530310 C T SNP COG4 ENST00000323786 human ensembl 70_37 -1 known silent c.1506 p.R502 0.987 pfam_COG_su4,smart_COG_su4 pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC COL11A1 1301 genome.wustl.edu 37 1 103471840 103471840 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 103471840 103471840 G A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.1751 p.P584L 0.782 pfam_Collagen 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 COL11A1 HGNC COL2A1 1280 genome.wustl.edu 37 12 48393727 48393727 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 48393727 48393727 G T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known nonsense c.267 p.C89* 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC COL3A1 1281 genome.wustl.edu 37 2 189875551 189875551 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 189875551 189875551 G A SNP COL3A1 ENST00000304636 human ensembl 70_37 +1 known missense c.4189 p.E1397K 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC COL4A4 1286 genome.wustl.edu 37 2 227895255 227895255 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 227895255 227895255 C T SNP COL4A4 ENST00000396625 human ensembl 70_37 -1 known missense c.3877 p.D1293N 0.993 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC COL4A5 1287 genome.wustl.edu 37 X 107909764 107909764 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 107909764 107909764 G A SNP COL4A5 ENST00000328300 human ensembl 70_37 +1 known missense c.3493 p.E1165K 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC COL7A1 1294 genome.wustl.edu 37 3 48605318 48605318 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 48605318 48605318 G A SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.7882 p.R2628W 0.982 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC COL7A1 1294 genome.wustl.edu 37 3 48612260 48612260 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 48612260 48612260 T A SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.6318 p.E2106D 0.001 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC CORO2A 7464 genome.wustl.edu 37 9 100897207 100897207 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 100897207 100897207 G T SNP CORO2A ENST00000343933 human ensembl 70_37 -1 known missense c.349 p.L117M 0.973 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 CORO2A HGNC CPSF6 11052 genome.wustl.edu 37 12 69650495 69650495 + Silent SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 69650495 69650495 T C SNP CPSF6 ENST00000266679 human ensembl 70_37 +1 known silent c.393 p.V131 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC CTNND2 1501 genome.wustl.edu 37 5 11364723 11364723 + Splice_Site SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 11364723 11364723 C T SNP CTNND2 ENST00000506735 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.055 - - - no_errors CTNND2 HGNC CUX2 23316 genome.wustl.edu 37 12 111744900 111744900 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 111744900 111744900 A G SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known missense c.1034 p.K345R 1.000 superfamily_Prefoldin pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC CYP1A1 1543 genome.wustl.edu 37 15 75014035 75014035 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 75014035 75014035 G T SNP CYP1A1 ENST00000379727 human ensembl 70_37 -1 known missense c.849 p.D283E 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP1 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 CYP1A1 HGNC CYP26B1 56603 genome.wustl.edu 37 2 72361952 72361952 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 72361952 72361952 G T SNP CYP26B1 ENST00000001146 human ensembl 70_37 -1 known missense c.799 p.L267M 0.971 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC CYP4F11 57834 genome.wustl.edu 37 19 16032932 16032932 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 16032932 16032932 G A SNP CYP4F11 ENST00000248041 human ensembl 70_37 -1 known missense c.1030 p.L344F 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 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 CYP4F11 HGNC DDX53 168400 genome.wustl.edu 37 X 23019522 23019522 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 23019522 23019522 G C SNP DDX53 ENST00000327968 human ensembl 70_37 +1 known missense c.1348 p.E450Q 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC DGCR2 9993 genome.wustl.edu 37 22 19109704 19109704 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 19109704 19109704 C T SNP DGCR2 ENST00000263196 human ensembl 70_37 -1 known missense c.16 p.D6N 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC DIO3OS 64150 genome.wustl.edu 37 14 102018911 102018911 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 102018911 102018911 G T SNP DIO3OS ENST00000553575 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DIO3OS HGNC DIRC2 84925 genome.wustl.edu 37 3 122545861 122545861 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 122545861 122545861 G C SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.652 p.E218Q 0.840 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC DLG5 9231 genome.wustl.edu 37 10 79613995 79613995 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 79613995 79613995 C T SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known missense c.670 p.D224N 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC DMXL2 23312 genome.wustl.edu 37 15 51790822 51790822 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 51790822 51790822 G A SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known silent c.4599 p.F1533 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DNAH10 196385 genome.wustl.edu 37 12 124402287 124402287 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 124402287 124402287 C A SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known missense c.10805 p.T3602K 0.992 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH17 8632 genome.wustl.edu 37 17 76490185 76490185 + Missense_Mutation SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 76490185 76490185 A C SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.6299 p.L2100R 1.000 NULL 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 DNAH8 1769 genome.wustl.edu 37 6 38790763 38790763 + Nonsense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 38790763 38790763 C T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known nonsense c.3022 p.Q1008* 0.972 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 DNAH8 HGNC DPCR1 135656 genome.wustl.edu 37 6 30917602 30917602 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 30917602 30917602 C T SNP DPCR1 ENST00000462446 human ensembl 70_37 +1 novel missense c.1361 p.T454I 0.002 NULL NULL - no_errors DPCR1 HGNC DPP10 57628 genome.wustl.edu 37 2 116593781 116593781 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 116593781 116593781 C T SNP DPP10 ENST00000393147 human ensembl 70_37 +1 known missense c.2011 p.L671F 0.255 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC DSCAM 1826 genome.wustl.edu 37 21 41496132 41496132 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 21 41496132 41496132 G C SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known missense c.3686 p.P1229R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC DTX3L 151636 genome.wustl.edu 37 3 122283436 122283436 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 122283436 122283436 C T SNP DTX3L ENST00000296161 human ensembl 70_37 +1 known missense c.163 p.R55W 0.003 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ECT2 1894 genome.wustl.edu 37 3 172536477 172536477 + Nonsense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 172536477 172536477 C G SNP ECT2 ENST00000427830 human ensembl 70_37 +1 known nonsense c.2702 p.S901* 0.028 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC EGFL8 80864 genome.wustl.edu 37 6 32134314 32134314 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 32134314 32134314 C G SNP EGFL8 ENST00000333845 human ensembl 70_37 +1 known silent c.141 p.L47 0.997 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors EGFL8 HGNC EHD1 10938 genome.wustl.edu 37 11 64627615 64627615 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 64627615 64627615 C G SNP EHD1 ENST00000320631 human ensembl 70_37 -1 known silent c.696 p.V232 0.918 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC EIF3G 8666 genome.wustl.edu 37 19 10230348 10230348 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 10230348 10230348 C T SNP EIF3G ENST00000253108 human ensembl 70_37 -1 known missense c.49 p.E17K 1.000 pirsf_Transl_init_eIF-3_G pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom - no_errors EIF3G HGNC ENPP2 5168 genome.wustl.edu 37 8 120583068 120583068 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 120583068 120583068 G C SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known silent c.1950 p.L650 0.415 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000121388 0 genome.wustl.edu 37 13 19761465 19761465 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 19761465 19761465 G A SNP ENSG00000121388 ENST00000382988 human ensembl 70_37 +1 putative silent c.239 p.*80 1.000 NULL NULL - no_errors RP11-408E5.4 Clone_based_vega_gene ENSG00000223099 0 genome.wustl.edu 37 4 49601499 49601499 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 49601499 49601499 G T SNP ENSG00000223099 ENST00000411167 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC119751.4 Clone_based_ensembl_gene ENSG00000239128 0 genome.wustl.edu 37 3 47292016 47292016 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 47292016 47292016 C A SNP ENSG00000239128 ENST00000459492 human ensembl 70_37 -1 novel rna NULL NULL 0.099 - - - no_errors snoU13 RFAM ENSG00000244327 0 genome.wustl.edu 37 3 142184160 142184160 + RNA SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 142184160 142184160 A C SNP ENSG00000244327 ENST00000460977 human ensembl 70_37 -1 putative rna NULL NULL 0.429 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000252504 0 genome.wustl.edu 37 3 53244060 53244060 + RNA SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 53244060 53244060 A T SNP ENSG00000252504 ENST00000516695 human ensembl 70_37 -1 novel rna NULL NULL 0.219 - - - no_errors AC097015.1 Clone_based_ensembl_gene ENSG00000253682 0 genome.wustl.edu 37 8 93415807 93415807 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 93415807 93415807 C T SNP ENSG00000253682 ENST00000518042 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-700E23.2 Clone_based_vega_gene ENSG00000255201 0 genome.wustl.edu 37 8 38283558 38283558 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 38283558 38283558 G A SNP ENSG00000255201 ENST00000528407 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-350N15.4 Clone_based_vega_gene ENSG00000259243 0 genome.wustl.edu 37 15 83013957 83013957 + Missense_Mutation SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 83013957 83013957 T C SNP ENSG00000259243 ENST00000557886 human ensembl 70_37 -1 putative missense c.626 p.H209R 0.831 NULL NULL - no_errors RP13-996F3.4 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102294169 102294169 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 102294169 102294169 G A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000263713 0 genome.wustl.edu 37 X 149657845 149657845 + RNA SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 149657845 149657845 T C SNP ENSG00000263713 ENST00000401364 human ensembl 70_37 -1 novel rna NULL NULL 0.010 - - - no_errors AC109994.1 Clone_based_ensembl_gene EP300 2033 genome.wustl.edu 37 22 41562645 41562645 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 41562645 41562645 G T SNP EP300 ENST00000263253 human ensembl 70_37 +1 known missense c.3849 p.R1283S 0.993 superfamily_Znf_FYVE_PHD 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 EP300 HGNC EP400 57634 genome.wustl.edu 37 12 132472277 132472277 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 132472277 132472277 G A SNP EP400 ENST00000333577 human ensembl 70_37 +1 known missense c.2359 p.E787K 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 46602874 46602874 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 46602874 46602874 C A SNP EPAS1 ENST00000263734 human ensembl 70_37 +1 known missense c.932 p.A311E 1.000 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAC,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors EPAS1 HGNC EPB41 2035 genome.wustl.edu 37 1 29362374 29362374 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 29362374 29362374 C G SNP EPB41 ENST00000343067 human ensembl 70_37 +1 known missense c.1402 p.P468A 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,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 EPC1 80314 genome.wustl.edu 37 10 32561068 32561068 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 32561068 32561068 C T SNP EPC1 ENST00000263062 human ensembl 70_37 -1 known missense c.1960 p.A654T 1.000 pfam_Enhancer_polycomb_C pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC EPHB3 2049 genome.wustl.edu 37 3 184295445 184295445 + Splice_Site SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 184295445 184295445 G C SNP EPHB3 ENST00000330394 human ensembl 70_37 +1 known splice_site c.1480-1 e7-1 1.000 - - - no_errors EPHB3 HGNC ERCC2 2068 genome.wustl.edu 37 19 45867377 45867377 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 45867377 45867377 C G SNP ERCC2 ENST00000391945 human ensembl 70_37 -1 known missense c.816 p.R272S 1.000 pfam_DUF1227,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ESRRB 2103 genome.wustl.edu 37 14 76928889 76928889 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 76928889 76928889 G T SNP ESRRB ENST00000380887 human ensembl 70_37 +1 known silent c.399 p.G133 0.965 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ETF1 2107 genome.wustl.edu 37 5 137847214 137847214 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 137847214 137847214 G C SNP ETF1 ENST00000360541 human ensembl 70_37 -1 known missense c.812 p.S271C 1.000 pfam_eRF1_2,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC EVI5L 115704 genome.wustl.edu 37 19 7925449 7925449 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 7925449 7925449 G C SNP EVI5L ENST00000538904 human ensembl 70_37 +1 known missense c.1377 p.E459D 0.305 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC F5 2153 genome.wustl.edu 37 1 169510846 169510846 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 169510846 169510846 C A SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.3497 p.R1166L 0.108 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC FAIM3 9214 genome.wustl.edu 37 1 207083082 207083082 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 207083082 207083082 C T SNP FAIM3 ENST00000367091 human ensembl 70_37 -1 known missense c.973 p.A325T 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC MVB12B 89853 genome.wustl.edu 37 9 129157918 129157918 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 129157918 129157918 C G SNP FAM125B ENST00000361171 human ensembl 70_37 +1 known missense c.604 p.Q202E 1.000 pfam_FAM125 pfam_FAM125 - no_errors FAM125B HGNC FAM135B 51059 genome.wustl.edu 37 8 139160891 139160891 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 139160891 139160891 T A SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.3320 p.K1107M 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC FAM47C 442444 genome.wustl.edu 37 X 37027105 37027105 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 37027105 37027105 T A SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.622 p.S208T 0.001 NULL NULL - no_errors FAM47C HGNC FAT3 120114 genome.wustl.edu 37 11 92087287 92087287 + Nonsense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 92087287 92087287 C A SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known nonsense c.2009 p.S670* 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FAT4 79633 genome.wustl.edu 37 4 126371575 126371575 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 126371575 126371575 G T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.9404 p.G3135V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FCER1G 2207 genome.wustl.edu 37 1 161187833 161187833 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 161187833 161187833 G A SNP FCER1G ENST00000367992 human ensembl 70_37 +1 known missense c.107 p.G36E 0.999 pfam_CR3_zeta/IgE_Fc_rcpt_gamma pfam_CR3_zeta/IgE_Fc_rcpt_gamma - no_errors FCER1G HGNC FDPS 2224 genome.wustl.edu 37 1 155288073 155288073 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 155288073 155288073 C G SNP FDPS ENST00000356657 human ensembl 70_37 +1 known silent c.675 p.L225 0.995 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC FLJ22763 401081 genome.wustl.edu 37 3 108868763 108868763 + RNA SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 108868763 108868763 A G SNP FLJ22763 ENST00000467240 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-59E19.1 Clone_based_vega_gene FN1 2335 genome.wustl.edu 37 2 216226710 216226710 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 216226710 216226710 G A SNP FN1 ENST00000354785 human ensembl 70_37 -1 known silent c.7344 p.Y2448 1.000 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC FN1 2335 genome.wustl.edu 37 2 216239952 216239952 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 216239952 216239952 C T SNP FN1 ENST00000354785 human ensembl 70_37 -1 known missense c.6142 p.E2048K 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC FNDC7 163479 genome.wustl.edu 37 1 109284418 109284418 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 109284418 109284418 G A SNP FNDC7 ENST00000271311 human ensembl 70_37 +1 known missense c.2197 p.E733K 0.995 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC FOXI3 344167 genome.wustl.edu 37 2 88748104 88748104 + RNA SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 88748104 88748104 C G SNP FOXI3 ENST00000398142 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors FOXI3 HGNC FRG1B 284802 genome.wustl.edu 37 20 29614296 29614297 + RNA INS - - AGA TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 29614296 29614297 - AGA INS FRG1B ENST00000482423 human ensembl 70_37 +1 known rna NULL NULL 0.998:0.997 - - - no_errors FRG1B HGNC FUT5 2527 genome.wustl.edu 37 19 5867194 5867194 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 5867194 5867194 G T SNP FUT5 ENST00000252675 human ensembl 70_37 -1 known silent c.543 p.P181 0.998 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC FUT9 10690 genome.wustl.edu 37 6 96651604 96651604 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 96651604 96651604 G C SNP FUT9 ENST00000302103 human ensembl 70_37 +1 known missense c.573 p.W191C 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC FZD5 7855 genome.wustl.edu 37 2 208633032 208633032 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 208633032 208633032 C T SNP FZD5 ENST00000295417 human ensembl 70_37 -1 known silent c.432 p.E144 0.837 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD5 HGNC GALNT7 51809 genome.wustl.edu 37 4 174223308 174223308 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 174223308 174223308 C T SNP GALNT7 ENST00000265000 human ensembl 70_37 +1 known missense c.1259 p.S420L 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 GALNT7 HGNC GALNT15 117248 genome.wustl.edu 37 3 16216965 16216965 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 16216965 16216965 C A SNP GALNTL2 ENST00000339732 human ensembl 70_37 +1 known missense c.307 p.Q103K 0.989 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL2 HGNC GALNT15 117248 genome.wustl.edu 37 3 16216966 16216966 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 16216966 16216966 A G SNP GALNTL2 ENST00000339732 human ensembl 70_37 +1 known missense c.308 p.Q103R 0.988 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL2 HGNC GCC2 9648 genome.wustl.edu 37 2 109098845 109098845 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 109098845 109098845 G C SNP GCC2 ENST00000309863 human ensembl 70_37 +1 known missense c.3283 p.A1095P 0.998 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC GEMIN4 50628 genome.wustl.edu 37 17 649191 649191 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 649191 649191 G T SNP GEMIN4 ENST00000319004 human ensembl 70_37 -1 known missense c.2092 p.L698I 0.915 NULL NULL - no_errors GEMIN4 HGNC GJD3 125111 genome.wustl.edu 37 17 38517354 38517354 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 38517354 38517354 G C SNP GJD3 ENST00000337376 human ensembl 70_37 -1 known missense c.772 p.Q258E 0.001 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD3 HGNC GLI2 2736 genome.wustl.edu 37 2 121726386 121726386 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 121726386 121726386 G A SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.740 p.R247Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC GLI3 2737 genome.wustl.edu 37 7 42004460 42004460 + Missense_Mutation SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 42004460 42004460 A T SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.4211 p.L1404Q 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC GLIPR2 152007 genome.wustl.edu 37 9 36162779 36162779 + RNA SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 36162779 36162779 T A SNP GLIPR2 ENST00000474050 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors GLIPR2 HGNC GNAS 2778 genome.wustl.edu 37 20 57415400 57415400 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 57415400 57415400 C A SNP GNAS ENST00000313949 human ensembl 70_37 +1 known missense c.239 p.P80H 0.931 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC GNL3L 54552 genome.wustl.edu 37 X 54578806 54578806 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 54578806 54578806 G C SNP GNL3L ENST00000336470 human ensembl 70_37 +1 known missense c.1263 p.M421I 1.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain - no_errors GNL3L HGNC GOLGA1 2800 genome.wustl.edu 37 9 127674285 127674285 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 127674285 127674285 C G SNP GOLGA1 ENST00000373555 human ensembl 70_37 -1 known missense c.864 p.E288D 0.976 superfamily_Prefoldin pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC GPKOW 27238 genome.wustl.edu 37 X 48979986 48979986 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 48979986 48979986 C T SNP GPKOW ENST00000156109 human ensembl 70_37 -1 known silent c.87 p.R29 0.956 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC GPR143 4935 genome.wustl.edu 37 X 9727434 9727434 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 9727434 9727434 G A SNP GPR143 ENST00000380929 human ensembl 70_37 -1 known silent c.453 p.F151 1.000 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC GPR146 115330 genome.wustl.edu 37 7 1097783 1097783 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 1097783 1097783 C T SNP GPR146 ENST00000297468 human ensembl 70_37 +1 known missense c.632 p.S211F 0.368 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC GPR37 2861 genome.wustl.edu 37 7 124404620 124404620 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 124404620 124404620 C T SNP GPR37 ENST00000303921 human ensembl 70_37 -1 known silent c.411 p.G137 0.005 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_rcpt,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC GPR98 84059 genome.wustl.edu 37 5 90052844 90052844 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 90052844 90052844 G A SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.11806 p.V3936I 0.000 pfam_Calx_beta,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 GRIK4 2900 genome.wustl.edu 37 11 120776103 120776103 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 120776103 120776103 C G SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known silent c.1377 p.L459 0.142 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd 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 GRM5 2915 genome.wustl.edu 37 11 88386447 88386447 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 88386447 88386447 G T SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.1036 p.P346T 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC GRM8 2918 genome.wustl.edu 37 7 126409937 126409937 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 126409937 126409937 G A SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.1339 p.R447W 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC HAT1 8520 genome.wustl.edu 37 2 172844210 172844210 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 172844210 172844210 G A SNP HAT1 ENST00000264108 human ensembl 70_37 +1 known missense c.1026 p.M342I 1.000 pirsf_Hist_AcTrfase_B-typ_cat-su pfam_Hat1_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_B-typ_cat-su - no_errors HAT1 HGNC HDGFL1 154150 genome.wustl.edu 37 6 22570207 22570207 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 22570207 22570207 G T SNP HDGFL1 ENST00000230012 human ensembl 70_37 +1 known missense c.403 p.D135Y 0.000 NULL pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors HDGFL1 HGNC HEY1 23462 genome.wustl.edu 37 8 80679867 80679867 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 80679867 80679867 G T SNP HEY1 ENST00000337919 human ensembl 70_37 -1 known nonsense c.32 p.S11* 1.000 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HEY1 HGNC HHATL 57467 genome.wustl.edu 37 3 42735141 42735141 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 42735141 42735141 G A SNP HHATL ENST00000310417 human ensembl 70_37 -1 known silent c.1216 p.L406 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHATL HGNC HIPK4 147746 genome.wustl.edu 37 19 40895399 40895399 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 40895399 40895399 G C SNP HIPK4 ENST00000291823 human ensembl 70_37 -1 known silent c.411 p.L137 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 HIPK4 HGNC HIST1H2BG 8339 genome.wustl.edu 37 6 26216532 26216532 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 26216532 26216532 C G SNP HIST1H2BG ENST00000244601 human ensembl 70_37 -1 known missense c.340 p.E114Q 1.000 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 HIST1H2BG HGNC HIST1H3A 8350 genome.wustl.edu 37 6 26020749 26020749 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 26020749 26020749 C G SNP HIST1H3A ENST00000357647 human ensembl 70_37 +1 known missense c.32 p.S11C 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3A HGNC HLA-V 352962 genome.wustl.edu 37 6 29761307 29761307 + RNA SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 29761307 29761307 A G SNP HLA-V ENST00000457107 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors HLA-V HGNC HORMAD1 84072 genome.wustl.edu 37 1 150671102 150671102 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 150671102 150671102 C T SNP HORMAD1 ENST00000470397 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors HORMAD1 HGNC HORMAD2 150280 genome.wustl.edu 37 22 30517978 30517978 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 30517978 30517978 C T SNP HORMAD2 ENST00000336726 human ensembl 70_37 +1 known silent c.594 p.L198 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD2 HGNC HOXB3 3213 genome.wustl.edu 37 17 46627737 46627737 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 46627737 46627737 G A SNP HOXB3 ENST00000311626 human ensembl 70_37 -1 known nonsense c.1255 p.Q419* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC HSPA12B 116835 genome.wustl.edu 37 20 3728949 3728949 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 3728949 3728949 G A SNP HSPA12B ENST00000254963 human ensembl 70_37 +1 known missense c.761 p.R254H 1.000 NULL NULL - no_errors HSPA12B HGNC IAH1 285148 genome.wustl.edu 37 2 9618415 9618415 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 9618415 9618415 C T SNP IAH1 ENST00000497473 human ensembl 70_37 +1 known missense c.199 p.P67S 0.998 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors IAH1 HGNC IDH3B 3420 genome.wustl.edu 37 20 2644581 2644581 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 2644581 2644581 G A SNP IDH3B ENST00000380843 human ensembl 70_37 -1 known missense c.107 p.S36L 0.001 NULL pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC IKBKB 3551 genome.wustl.edu 37 8 42177143 42177143 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 42177143 42177143 G T SNP IKBKB ENST00000520810 human ensembl 70_37 +1 known missense c.1557 p.Q519H 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC IL20RB 53833 genome.wustl.edu 37 3 136708308 136708308 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 136708308 136708308 G C SNP IL20RB ENST00000329582 human ensembl 70_37 +1 known missense c.432 p.E144D 0.000 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC INHBA 3624 genome.wustl.edu 37 7 41729812 41729812 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 41729812 41729812 G A SNP INHBA ENST00000242208 human ensembl 70_37 -1 known silent c.717 p.D239 0.985 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC INTS1 26173 genome.wustl.edu 37 7 1511263 1511263 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 1511263 1511263 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.6811 p.L2271 0.997 superfamily_ARM-type_fold pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC IRGQ 126298 genome.wustl.edu 37 19 44099333 44099333 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 44099333 44099333 C T SNP IRGQ ENST00000422989 human ensembl 70_37 -1 known missense c.158 p.G53D 0.981 NULL NULL - no_errors IRGQ HGNC IVL 3713 genome.wustl.edu 37 1 152882943 152882943 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 152882943 152882943 G C SNP IVL ENST00000368764 human ensembl 70_37 +1 known missense c.670 p.E224Q 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC JAKMIP1 152789 genome.wustl.edu 37 4 6051584 6051584 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 6051584 6051584 C T SNP JAKMIP1 ENST00000409021 human ensembl 70_37 -1 known missense c.1924 p.E642K 1.000 NULL NULL - no_errors JAKMIP1 HGNC JOSD1 9929 genome.wustl.edu 37 22 39085337 39085337 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 39085337 39085337 G T SNP JOSD1 ENST00000216039 human ensembl 70_37 -1 known missense c.278 p.T93N 1.000 pfam_Josephin,pfscan_Josephin pfam_Josephin,pfscan_Josephin - no_errors JOSD1 HGNC KANK1 23189 genome.wustl.edu 37 9 713097 713097 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 713097 713097 G T SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known missense c.2331 p.R777S 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC KCNB2 9312 genome.wustl.edu 37 8 73849925 73849925 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 73849925 73849925 G T SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known nonsense c.2335 p.G779* 1.000 NULL pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC KCND2 3751 genome.wustl.edu 37 7 120373062 120373062 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 120373062 120373062 C A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known silent c.1221 p.S407 0.992 pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5463891 5463891 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 5463891 5463891 G A SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.4444 p.E1482K 0.049 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA1755 85449 genome.wustl.edu 37 20 36874342 36874342 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 36874342 36874342 C T SNP KIAA1755 ENST00000279024 human ensembl 70_37 -1 known missense c.190 p.E64K 0.998 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC KIF11 3832 genome.wustl.edu 37 10 94397237 94397237 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 94397237 94397237 G A SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known missense c.2095 p.E699K 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC KIF19 124602 genome.wustl.edu 37 17 72350665 72350665 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 72350665 72350665 G T SNP KIF19 ENST00000389916 human ensembl 70_37 +1 known silent c.2673 p.R891 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC KIF1B 23095 genome.wustl.edu 37 1 10399865 10399865 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 10399865 10399865 C T SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.3323 p.P1108L 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF3B 9371 genome.wustl.edu 37 20 30915357 30915357 + Splice_Site SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 30915357 30915357 A G SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known splice_site c.1863-2 e6-2 1.000 - - - no_errors KIF3B HGNC KRT28 162605 genome.wustl.edu 37 17 38950145 38950145 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 38950145 38950145 C G SNP KRT28 ENST00000306658 human ensembl 70_37 -1 known missense c.1132 p.D378H 0.378 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC KU-MEL-3 497048 genome.wustl.edu 37 6 4611411 4611411 + RNA SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 4611411 4611411 A C SNP KU-MEL-3 ENST00000380106 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-529N6.1 Clone_based_vega_gene LHX3 8022 genome.wustl.edu 37 9 139096823 139096823 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139096823 139096823 C T SNP LHX3 ENST00000371748 human ensembl 70_37 -1 known silent c.36 p.A12 0.236 NULL pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX3 HGNC LIMS3-LOC440895 100271835 genome.wustl.edu 37 2 111023707 111023707 + RNA SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 111023707 111023707 A G SNP LIMS3-LOC440895 ENST00000562665 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1223D19.1 Clone_based_vega_gene LIN28B 389421 genome.wustl.edu 37 6 105474188 105474188 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 105474188 105474188 G C SNP LIN28B ENST00000345080 human ensembl 70_37 +1 known missense c.214 p.E72Q 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot pfam_CSP_DNA-bd,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 LIN28B HGNC LINC00686 140865 genome.wustl.edu 37 20 61331798 61331798 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 61331798 61331798 C A SNP LINC00686 ENST00000435412 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors LINC00686 HGNC LOC100996554 100996554 genome.wustl.edu 37 1 243260602 243260602 + Splice_Site SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 243260602 243260602 C G SNP LOC100996554 ENST00000417964 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.188 - - - no_errors RP11-261C10.3 Clone_based_vega_gene LOC100996870 100996870 genome.wustl.edu 37 9 66466650 66466650 + RNA SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 66466650 66466650 G C SNP LOC100996870 ENST00000424345 human ensembl 70_37 +1 known rna NULL NULL 0.105 - - - no_errors RP11-262H14.1 Clone_based_vega_gene LOC154092 154092 genome.wustl.edu 37 6 134824015 134824015 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 134824015 134824015 C T SNP LOC154092 ENST00000431422 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-557H15.2 Clone_based_vega_gene LOC440993 440993 genome.wustl.edu 37 3 195435129 195435129 + RNA SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 195435129 195435129 C G SNP LOC440993 ENST00000417704 human ensembl 70_37 +1 known rna NULL NULL 0.245 - - - no_errors AC069513.3 Clone_based_vega_gene LOC729218 729218 genome.wustl.edu 37 4 119554526 119554526 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 119554526 119554526 G A SNP LOC729218 ENST00000567913 human ensembl 70_37 +1 known rna NULL NULL 0.956 - - - no_errors RP11-384K6.6 Clone_based_vega_gene LRP2 4036 genome.wustl.edu 37 2 170060714 170060714 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 170060714 170060714 C A SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.7783 p.A2595S 0.983 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_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 68192732 68192732 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 68192732 68192732 G C SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known silent c.3399 p.L1133 1.000 pfam_LDLR_classB_rpt,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 LRRC1 55227 genome.wustl.edu 37 6 53761333 53761333 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 53761333 53761333 C T SNP LRRC1 ENST00000370888 human ensembl 70_37 +1 known missense c.484 p.L162F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC LRSAM1 90678 genome.wustl.edu 37 9 130263375 130263375 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 130263375 130263375 G A SNP LRSAM1 ENST00000300417 human ensembl 70_37 +1 known missense c.1999 p.E667K 0.799 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC MAGEL2 54551 genome.wustl.edu 37 15 23890425 23890425 + Missense_Mutation SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 23890425 23890425 T C SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.656 p.Q219R 0.988 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC MAP2 4133 genome.wustl.edu 37 2 210594966 210594966 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 210594966 210594966 G T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known nonsense c.5329 p.E1777* 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MBD4 8930 genome.wustl.edu 37 3 129151414 129151414 + Nonsense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 129151414 129151414 C A SNP MBD4 ENST00000249910 human ensembl 70_37 -1 known nonsense c.1597 p.E533* 1.000 pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC MED12L 116931 genome.wustl.edu 37 3 151095907 151095907 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 151095907 151095907 G A SNP MED12L ENST00000474524 human ensembl 70_37 +1 known missense c.4319 p.G1440E 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC METTL9 51108 genome.wustl.edu 37 16 21629232 21629232 + Nonsense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 21629232 21629232 C T SNP METTL9 ENST00000358154 human ensembl 70_37 +1 known nonsense c.403 p.Q135* 1.000 pfam_DREV_MeTrfase pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC MEX3A 92312 genome.wustl.edu 37 1 156051708 156051708 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 156051708 156051708 C T SNP MEX3A ENST00000532414 human ensembl 70_37 -1 known missense c.82 p.D28N 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC MEX3C 51320 genome.wustl.edu 37 18 48723052 48723052 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 48723052 48723052 C T SNP MEX3C ENST00000406189 human ensembl 70_37 -1 known silent c.639 p.A213 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3C HGNC MEX3D 399664 genome.wustl.edu 37 19 1556818 1556818 + Nonsense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 1556818 1556818 C A SNP MEX3D ENST00000388824 human ensembl 70_37 -1 known nonsense c.700 p.E234* 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC MIS18A 54069 genome.wustl.edu 37 21 33647158 33647158 + Silent SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 21 33647158 33647158 A C SNP MIS18A ENST00000290130 human ensembl 70_37 -1 known silent c.384 p.R128 0.494 NULL NULL - no_errors MIS18A HGNC MLH3 27030 genome.wustl.edu 37 14 75485617 75485617 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 75485617 75485617 G A SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known missense c.4157 p.S1386L 0.003 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC MT1E 4493 genome.wustl.edu 37 16 56660709 56660709 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 56660709 56660709 G A SNP MT1E ENST00000330439 human ensembl 70_37 +1 putative silent c.360 p.L120 0.000 NULL pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom - no_errors MT1E HGNC MUSK 4593 genome.wustl.edu 37 9 113547810 113547810 + Missense_Mutation SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 113547810 113547810 A C SNP MUSK ENST00000189978 human ensembl 70_37 +1 known missense c.1608 p.E536D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC MYH8 4626 genome.wustl.edu 37 17 10302917 10302917 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 10302917 10302917 G A SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known nonsense c.3805 p.Q1269* 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC MYL1 4632 genome.wustl.edu 37 2 211179765 211179766 + Frame_Shift_Ins INS - - T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 211179765 211179766 - T INS MYL1 ENST00000352451 human ensembl 70_37 -1 known frame_shift_ins c.2_1 p.M1fs 1.000:1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL1 HGNC MYO1H 283446 genome.wustl.edu 37 12 109843778 109843778 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 109843778 109843778 G C SNP MYO1H ENST00000431443 human ensembl 70_37 +1 known missense c.853 p.E285Q 0.998 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1H HGNC MYO5B 4645 genome.wustl.edu 37 18 47429194 47429194 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 47429194 47429194 C G SNP MYO5B ENST00000285039 human ensembl 70_37 -1 known missense c.2581 p.E861Q 0.937 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC NAV3 89795 genome.wustl.edu 37 12 78334047 78334047 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 78334047 78334047 G T SNP NAV3 ENST00000549369 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors NAV3 HGNC NBPF1 55672 genome.wustl.edu 37 1 16890342 16890342 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 16890342 16890342 C T SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors NBPF1 HGNC NCSTN 23385 genome.wustl.edu 37 1 160326700 160326700 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 160326700 160326700 G T SNP NCSTN ENST00000469159 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NCSTN HGNC NEK10 152110 genome.wustl.edu 37 3 27387639 27387639 + Silent SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 27387639 27387639 A G SNP NEK10 ENST00000341435 human ensembl 70_37 -1 known silent c.201 p.G67 0.440 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,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 NEK10 HGNC NEK2 4751 genome.wustl.edu 37 1 211847840 211847840 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 211847840 211847840 C G SNP NEK2 ENST00000366999 human ensembl 70_37 -1 known missense c.112 p.E38Q 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 NEK2 HGNC NFE2L1 4779 genome.wustl.edu 37 17 46135813 46135813 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 46135813 46135813 C T SNP NFE2L1 ENST00000362042 human ensembl 70_37 +1 known missense c.1129 p.L377F 0.999 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC NFKBID 84807 genome.wustl.edu 37 19 36393171 36393171 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 36393171 36393171 C G SNP NFKBID ENST00000352614 human ensembl 70_37 -1 known missense c.15 p.L5F 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC NME8 51314 genome.wustl.edu 37 7 37936496 37936496 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 37936496 37936496 G A SNP NME8 ENST00000199447 human ensembl 70_37 +1 known silent c.1569 p.L523 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC NOL9 79707 genome.wustl.edu 37 1 6614166 6614166 + Splice_Site SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 6614166 6614166 C T SNP NOL9 ENST00000377705 human ensembl 70_37 -1 known splice_site c.396+1 e1+1 0.751 - - - no_errors NOL9 HGNC NRXN2 9379 genome.wustl.edu 37 11 64428457 64428457 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 64428457 64428457 C G SNP NRXN2 ENST00000265459 human ensembl 70_37 -1 known silent c.1953 p.R651 0.309 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC NTNG2 84628 genome.wustl.edu 37 9 135073664 135073664 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 135073664 135073664 C T SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known silent c.525 p.F175 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC NUP155 9631 genome.wustl.edu 37 5 37364401 37364401 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 37364401 37364401 G C SNP NUP155 ENST00000231498 human ensembl 70_37 -1 known missense c.243 p.I81M 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC NUP188 23511 genome.wustl.edu 37 9 131765678 131765678 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 131765678 131765678 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known missense c.4379 p.S1460F 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC OAZ2 4947 genome.wustl.edu 37 15 64981338 64981338 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 64981338 64981338 C T SNP OAZ2 ENST00000326005 human ensembl 70_37 -1 known silent c.384 p.E128 1.000 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ2 HGNC OLFML3 56944 genome.wustl.edu 37 1 114522252 114522252 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 114522252 114522252 G A SNP OLFML3 ENST00000320334 human ensembl 70_37 +1 known silent c.114 p.E38 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC OR10J3 441911 genome.wustl.edu 37 1 159283820 159283820 + Silent SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 159283820 159283820 T A SNP OR10J3 ENST00000332217 human ensembl 70_37 -1 known silent c.630 p.L210 0.044 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 OR10J3 HGNC OR10J3 441911 genome.wustl.edu 37 1 159283925 159283925 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 159283925 159283925 G A SNP OR10J3 ENST00000332217 human ensembl 70_37 -1 known silent c.525 p.I175 0.133 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC OR11H12 440153 genome.wustl.edu 37 14 19377962 19377962 + Silent SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 14 19377962 19377962 T C SNP OR11H12 ENST00000550708 human ensembl 70_37 +1 known silent c.369 p.G123 0.010 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 OR11H12 HGNC OR2A12 346525 genome.wustl.edu 37 7 143792960 143792960 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 143792960 143792960 G A SNP OR2A12 ENST00000408949 human ensembl 70_37 +1 known missense c.760 p.A254T 0.970 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A12 HGNC OR2AT4 341152 genome.wustl.edu 37 11 74800316 74800316 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 74800316 74800316 G A SNP OR2AT4 ENST00000305159 human ensembl 70_37 -1 known missense c.443 p.T148I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC OR4C5 79346 genome.wustl.edu 37 11 48387097 48387097 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 48387097 48387097 C A SNP OR4C5 ENST00000319813 human ensembl 70_37 -1 known silent c.921 p.V307 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC OR51I1 390063 genome.wustl.edu 37 11 5462187 5462187 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 5462187 5462187 G A SNP OR51I1 ENST00000380211 human ensembl 70_37 -1 known silent c.558 p.L186 0.974 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 OR51I1 HGNC OSBP 5007 genome.wustl.edu 37 11 59361137 59361137 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 59361137 59361137 G A SNP OSBP ENST00000263847 human ensembl 70_37 -1 known missense c.1618 p.R540C 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC P2RY13 53829 genome.wustl.edu 37 3 151046611 151046611 + Missense_Mutation SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 151046611 151046611 A C SNP P2RY13 ENST00000325602 human ensembl 70_37 -1 known missense c.233 p.F78C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_UDPG_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC PABPC3 5042 genome.wustl.edu 37 13 25671027 25671027 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 25671027 25671027 A G SNP PABPC3 ENST00000281589 human ensembl 70_37 +1 known missense c.691 p.K231E 0.999 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 PAK4 10298 genome.wustl.edu 37 19 39664313 39664313 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 39664313 39664313 G A SNP PAK4 ENST00000358301 human ensembl 70_37 +1 known missense c.761 p.R254Q 0.049 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK4 HGNC PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899896 112899896 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 112899896 112899896 G A SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known missense c.2072 p.R691K 0.012 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC PCCB 5096 genome.wustl.edu 37 3 135979188 135979188 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 135979188 135979188 G A SNP PCCB ENST00000468777 human ensembl 70_37 +1 putative silent c.456 p.L152 0.041 pfscan_COA_CT_N pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC PCDHA10 56139 genome.wustl.edu 37 5 140237074 140237074 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 140237074 140237074 G A SNP PCDHA10 ENST00000307360 human ensembl 70_37 +1 known missense c.1441 p.A481T 1.000 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 PCDHA12 56137 genome.wustl.edu 37 5 140256419 140256419 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 140256419 140256419 G A SNP PCDHA12 ENST00000398631 human ensembl 70_37 +1 known silent c.1362 p.A454 0.000 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC PCDHB8 56128 genome.wustl.edu 37 5 140559613 140559613 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 140559613 140559613 C A SNP PCDHB8 ENST00000239444 human ensembl 70_37 +1 known silent c.1998 p.G666 0.998 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC PCDHGA3 56112 genome.wustl.edu 37 5 140725749 140725749 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 140725749 140725749 C T SNP PCDHGA3 ENST00000253812 human ensembl 70_37 +1 known missense c.2149 p.R717W 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC PDK3 5165 genome.wustl.edu 37 X 24523381 24523381 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 24523381 24523381 C A SNP PDK3 ENST00000441463 human ensembl 70_37 +1 known silent c.561 p.I187 1.000 pfam_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC PDZD2 23037 genome.wustl.edu 37 5 32091009 32091009 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 32091009 32091009 G C SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known silent c.7455 p.L2485 0.980 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PET117 100303755 genome.wustl.edu 37 20 18122908 18122908 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 18122908 18122908 C T SNP PET117 ENST00000432901 human ensembl 70_37 +1 known silent c.153 p.N51 0.999 NULL NULL - no_errors PET117 HGNC PGBD5 79605 genome.wustl.edu 37 1 230486791 230486791 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 230486791 230486791 C T SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known silent c.897 p.T299 0.644 NULL NULL - no_errors PGBD5 HGNC PGM5 5239 genome.wustl.edu 37 9 71002420 71002420 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 71002420 71002420 C T SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known missense c.613 p.R205W 0.971 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC PHOSPHO1 162466 genome.wustl.edu 37 17 47301946 47301946 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 47301946 47301946 C T SNP PHOSPHO1 ENST00000413580 human ensembl 70_37 -1 known missense c.541 p.G181R 0.999 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO1 HGNC PI4KA 5297 genome.wustl.edu 37 22 21174094 21174094 + Silent SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 21174094 21174094 G C SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known silent c.624 p.L208 0.997 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIN4 5303 genome.wustl.edu 37 X 71406221 71406221 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 71406221 71406221 G A SNP PIN4 ENST00000373662 human ensembl 70_37 +1 known missense c.256 p.D86N 0.000 NULL NULL - no_errors PIN4 HGNC PKD1L1 168507 genome.wustl.edu 37 7 47869022 47869022 + Splice_Site SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 47869022 47869022 C A SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known splice_site c.6735+1 e44+1 0.093 - - - no_errors PKD1L1 HGNC PKN2 5586 genome.wustl.edu 37 1 89273084 89273084 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 89273084 89273084 C T SNP PKN2 ENST00000370521 human ensembl 70_37 +1 known missense c.1892 p.S631L 0.235 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN2 HGNC PKN2 5586 genome.wustl.edu 37 1 89273099 89273099 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 89273099 89273099 G T SNP PKN2 ENST00000370521 human ensembl 70_37 +1 known missense c.1907 p.S636I 0.512 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN2 HGNC PLAT 5327 genome.wustl.edu 37 8 42038032 42038032 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 42038032 42038032 G C SNP PLAT ENST00000220809 human ensembl 70_37 -1 known missense c.1061 p.S354C 0.968 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLAT HGNC PLB1 151056 genome.wustl.edu 37 2 28863863 28863863 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 28863863 28863863 C G SNP PLB1 ENST00000422425 human ensembl 70_37 +1 known missense c.4136 p.S1379C 0.712 NULL pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type - no_errors PLB1 HGNC PLCD3 113026 genome.wustl.edu 37 17 43197701 43197701 + Silent SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 43197701 43197701 G T SNP PLCD3 ENST00000322765 human ensembl 70_37 -1 known silent c.675 p.L225 0.524 NULL 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_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC PLCG2 5336 genome.wustl.edu 37 16 81990342 81990342 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 81990342 81990342 A G SNP PLCG2 ENST00000359376 human ensembl 70_37 +1 known missense c.3613 p.R1205G 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,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_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,prints_SH3_domain - no_errors PLCG2 HGNC PLEKHG4 25894 genome.wustl.edu 37 16 67315956 67315956 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 67315956 67315956 G A SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known silent c.1050 p.L350 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC PLP1 5354 genome.wustl.edu 37 X 103031869 103031869 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 103031869 103031869 C T SNP PLP1 ENST00000464776 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PLP1 HGNC PLXNB2 23654 genome.wustl.edu 37 22 50719806 50719806 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 50719806 50719806 C A SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known silent c.3645 p.V1215 0.557 NULL 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 PLXNB2 23654 genome.wustl.edu 37 22 50719808 50719808 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 22 50719808 50719808 C A SNP PLXNB2 ENST00000359337 human ensembl 70_37 -1 known missense c.3643 p.V1215L 0.497 NULL 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 94653479 94653479 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 94653479 94653479 G A SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.3220 p.E1074K 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot 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 PNCK 139728 genome.wustl.edu 37 X 152935959 152935959 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 152935959 152935959 G T SNP PNCK ENST00000447676 human ensembl 70_37 -1 known missense c.1234 p.R412S 0.005 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 PNCK HGNC PNMA5 114824 genome.wustl.edu 37 X 152158873 152158873 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 152158873 152158873 G T SNP PNMA5 ENST00000361887 human ensembl 70_37 -1 known missense c.1270 p.P424T 0.000 NULL NULL - no_errors PNMA5 HGNC POLR3D 661 genome.wustl.edu 37 8 22105764 22105764 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 22105764 22105764 G C SNP POLR3D ENST00000397802 human ensembl 70_37 +1 known missense c.459 p.Q153H 0.998 NULL pfam_RNA_pol_III_Rpc4 - no_errors POLR3D HGNC POU2AF1 5450 genome.wustl.edu 37 11 111249962 111249962 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 111249962 111249962 G A SNP POU2AF1 ENST00000526535 human ensembl 70_37 -1 putative rna NULL NULL 0.864 - - - no_errors POU2AF1 HGNC PPP2R2D 55844 genome.wustl.edu 37 10 133757483 133757483 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 133757483 133757483 G C SNP PPP2R2D ENST00000455566 human ensembl 70_37 +1 known missense c.396 p.L132F 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2D HGNC PRR12 57479 genome.wustl.edu 37 19 50105124 50105124 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 50105124 50105124 C T SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel silent c.4722 p.F1574 1.000 NULL NULL - no_errors PRR12 HGNC PRSS50 29122 genome.wustl.edu 37 3 46759249 46759249 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 46759249 46759249 G A SNP PRSS50 ENST00000315170 human ensembl 70_37 -1 known silent c.66 p.A22 0.000 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS50 HGNC PSD 5662 genome.wustl.edu 37 10 104170686 104170686 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 104170686 104170686 T A SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.2020 p.T674S 1.000 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 PSD HGNC PSMG1 8624 genome.wustl.edu 37 21 40551889 40551889 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 21 40551889 40551889 G T SNP PSMG1 ENST00000331573 human ensembl 70_37 -1 known nonsense c.417 p.C139* 1.000 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC PTEN 5728 genome.wustl.edu 37 10 89725043 89725043 + Splice_Site SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 89725043 89725043 G T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known splice_site c.1027-1 e9-1 1.000 - - - no_errors PTEN HGNC PTGDS 5730 genome.wustl.edu 37 9 139875331 139875331 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139875331 139875331 C A SNP PTGDS ENST00000462514 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PTGDS HGNC PTGFRN 5738 genome.wustl.edu 37 1 117509918 117509918 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 117509918 117509918 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known silent c.2025 p.L675 0.988 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC PTGS2 5743 genome.wustl.edu 37 1 186645143 186645143 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 186645143 186645143 G A SNP PTGS2 ENST00000367468 human ensembl 70_37 -1 known nonsense c.1144 p.Q382* 0.989 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC PVRL1 5818 genome.wustl.edu 37 11 119535753 119535753 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 119535753 119535753 C T SNP PVRL1 ENST00000264025 human ensembl 70_37 -1 known missense c.1258 p.D420N 0.959 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL1 HGNC PYGO1 26108 genome.wustl.edu 37 15 55839278 55839278 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 55839278 55839278 G T SNP PYGO1 ENST00000302000 human ensembl 70_37 -1 known missense c.203 p.A68D 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC RAB3GAP1 22930 genome.wustl.edu 37 2 135888131 135888131 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 135888131 135888131 A G SNP RAB3GAP1 ENST00000264158 human ensembl 70_37 +1 known missense c.1076 p.D359G 1.000 NULL NULL - no_errors RAB3GAP1 HGNC RBAK 57786 genome.wustl.edu 37 7 5104371 5104371 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 5104371 5104371 C G SNP RBAK ENST00000353796 human ensembl 70_37 +1 known silent c.1284 p.P428 0.979 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 RBAK HGNC RBBP6 5930 genome.wustl.edu 37 16 24557495 24557495 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 16 24557495 24557495 G A SNP RBBP6 ENST00000319715 human ensembl 70_37 +1 known missense c.178 p.D60N 1.000 pfam_DWNN_domain pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC RBM39 9584 genome.wustl.edu 37 20 34304707 34304707 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 34304707 34304707 C T SNP RBM39 ENST00000253363 human ensembl 70_37 -1 known missense c.846 p.M282I 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_CC1_SF - no_errors RBM39 HGNC RELN 5649 genome.wustl.edu 37 7 103191723 103191723 + Silent SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 103191723 103191723 A T SNP RELN ENST00000424685 human ensembl 70_37 -1 known silent c.6093 p.T2031 0.987 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RHPN1 114822 genome.wustl.edu 37 8 144460463 144460463 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 144460463 144460463 G A SNP RHPN1 ENST00000289013 human ensembl 70_37 +1 known missense c.406 p.E136K 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC RNF133 168433 genome.wustl.edu 37 7 122338409 122338409 + Silent SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 122338409 122338409 A G SNP RNF133 ENST00000340112 human ensembl 70_37 -1 known silent c.564 p.N188 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC RPL31 6160 genome.wustl.edu 37 2 101619193 101619193 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 101619193 101619193 G T SNP RPL31 ENST00000264258 human ensembl 70_37 +1 known missense c.30 p.K10N 1.000 NULL pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom - no_errors RPL31 HGNC RPL7 6129 genome.wustl.edu 37 8 74203306 74203306 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 74203306 74203306 G A SNP RPL7 ENST00000352983 human ensembl 70_37 -1 known silent c.720 p.I240 1.000 superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7 HGNC RREB1 6239 genome.wustl.edu 37 6 7182252 7182252 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 7182252 7182252 C A SNP RREB1 ENST00000379938 human ensembl 70_37 +1 known missense c.108 p.S36R 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC RXRB 6257 genome.wustl.edu 37 6 33168158 33168158 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 33168158 33168158 G A SNP RXRB ENST00000413614 human ensembl 70_37 -1 known missense c.56 p.S19L 1.000 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors RXRB HGNC SAE1 10055 genome.wustl.edu 37 19 47658464 47658464 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 47658464 47658464 C G SNP SAE1 ENST00000270225 human ensembl 70_37 +1 known silent c.621 p.V207 0.989 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC SAP25 100316904 genome.wustl.edu 37 7 100170081 100170081 + Silent SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 100170081 100170081 C G SNP SAP25 ENST00000538735 human ensembl 70_37 -1 known silent c.429 p.L143 0.867 NULL NULL - no_errors SAP25 HGNC SASH1 23328 genome.wustl.edu 37 6 148846469 148846469 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 148846469 148846469 C T SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known silent c.1252 p.L418 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC SDCCAG3 10807 genome.wustl.edu 37 9 139298550 139298550 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139298550 139298550 G A SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known nonsense c.1165 p.Q389* 1.000 NULL NULL - no_errors SDCCAG3 HGNC SDCCAG3 10807 genome.wustl.edu 37 9 139302363 139302363 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139302363 139302363 G C SNP SDCCAG3 ENST00000357365 human ensembl 70_37 -1 known missense c.317 p.A106G 0.999 NULL NULL - no_errors SDCCAG3 HGNC SDR16C5 195814 genome.wustl.edu 37 8 57219286 57219286 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 57219286 57219286 A G SNP SDR16C5 ENST00000303749 human ensembl 70_37 -1 known missense c.659 p.I220T 0.976 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC SGIP1 84251 genome.wustl.edu 37 1 67160939 67160939 + RNA DEL A A - TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 67160939 67160939 A - DEL SGIP1 ENST00000320161 human ensembl 70_37 +1 putative rna NULL NULL 0.009 - - - no_errors SGIP1 HGNC SH3D21 79729 genome.wustl.edu 37 1 36786216 36786216 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 36786216 36786216 G C SNP SH3D21 ENST00000453908 human ensembl 70_37 +1 known missense c.1952 p.R651T 0.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC SH3PXD2B 285590 genome.wustl.edu 37 5 171766545 171766545 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 171766545 171766545 G C SNP SH3PXD2B ENST00000311601 human ensembl 70_37 -1 known missense c.1564 p.L522V 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC SLAMF8 56833 genome.wustl.edu 37 1 159799818 159799818 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 159799818 159799818 T A SNP SLAMF8 ENST00000289707 human ensembl 70_37 +1 known missense c.203 p.L68Q 0.002 NULL pfscan_Ig-like - no_errors SLAMF8 HGNC SLC15A1 6564 genome.wustl.edu 37 13 99356572 99356572 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 99356572 99356572 G A SNP SLC15A1 ENST00000376503 human ensembl 70_37 -1 known silent c.1387 p.L463 0.610 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A1 HGNC SLC3A2 6520 genome.wustl.edu 37 11 62651929 62651929 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 62651929 62651929 G A SNP SLC3A2 ENST00000377892 human ensembl 70_37 +1 known missense c.1087 p.D363N 0.750 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC SLC9A3 6550 genome.wustl.edu 37 5 476336 476336 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 476336 476336 C T SNP SLC9A3 ENST00000264938 human ensembl 70_37 -1 known missense c.2048 p.R683Q 1.000 NULL pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC SLCO6A1 133482 genome.wustl.edu 37 5 101811489 101811489 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 101811489 101811489 C G SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known missense c.811 p.E271Q 0.019 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 SLCO6A1 HGNC SLITRK2 84631 genome.wustl.edu 37 X 144905849 144905849 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 144905849 144905849 G A SNP SLITRK2 ENST00000370490 human ensembl 70_37 +1 known missense c.1906 p.G636R 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC SMCHD1 23347 genome.wustl.edu 37 18 2762231 2762231 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 2762231 2762231 C G SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known missense c.4563 p.I1521M 0.920 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC SNAPC4 6621 genome.wustl.edu 37 9 139283032 139283032 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 139283032 139283032 G C SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known missense c.987 p.S329R 0.380 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC SNCAIP 9627 genome.wustl.edu 37 5 121786382 121786382 + Nonsense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 121786382 121786382 G T SNP SNCAIP ENST00000379533 human ensembl 70_37 +1 known nonsense c.1981 p.E661* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC SNRNP200 23020 genome.wustl.edu 37 2 96950262 96950262 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 96950262 96950262 G A SNP SNRNP200 ENST00000323853 human ensembl 70_37 -1 known missense c.4226 p.T1409I 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC SORBS3 10174 genome.wustl.edu 37 8 22419414 22419414 + Missense_Mutation SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 22419414 22419414 A G SNP SORBS3 ENST00000240123 human ensembl 70_37 +1 known missense c.554 p.H185R 0.000 pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS3 HGNC SORCS1 114815 genome.wustl.edu 37 10 108337108 108337108 + RNA SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 10 108337108 108337108 G T SNP SORCS1 ENST00000473866 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SORCS1 HGNC SP6 80320 genome.wustl.edu 37 17 45924697 45924697 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 45924697 45924697 C G SNP SP6 ENST00000342234 human ensembl 70_37 -1 known missense c.1099 p.E367Q 0.278 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC SPHKAP 80309 genome.wustl.edu 37 2 228883518 228883518 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 228883518 228883518 G T SNP SPHKAP ENST00000392056 human ensembl 70_37 -1 known missense c.2052 p.H684Q 0.824 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC SPTBN5 51332 genome.wustl.edu 37 15 42146345 42146345 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 42146345 42146345 C T SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.9677 p.G3226E 0.331 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SPTLC1 10558 genome.wustl.edu 37 9 94877647 94877647 + Silent SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 94877647 94877647 C A SNP SPTLC1 ENST00000262554 human ensembl 70_37 -1 known silent c.6 p.A2 0.992 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC SRRT 51593 genome.wustl.edu 37 7 100482406 100482406 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 100482406 100482406 G T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.988 p.G330C 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SRRT 51593 genome.wustl.edu 37 7 100482407 100482407 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 100482407 100482407 G T SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.989 p.G330V 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ST7 7982 genome.wustl.edu 37 7 116861992 116861992 + Nonsense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 116861992 116861992 C G SNP ST7 ENST00000265437 human ensembl 70_37 +1 known nonsense c.1514 p.S505* 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC SYNCRIP 10492 genome.wustl.edu 37 6 86324748 86324748 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 86324748 86324748 C G SNP SYNCRIP ENST00000369622 human ensembl 70_37 -1 known missense c.1598 p.R533T 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC SYTL2 54843 genome.wustl.edu 37 11 85438850 85438850 + Silent SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 85438850 85438850 A G SNP SYTL2 ENST00000359152 human ensembl 70_37 -1 known silent c.222 p.D74 0.997 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC SZT2 23334 genome.wustl.edu 37 1 43898052 43898052 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 43898052 43898052 C G SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known missense c.5213 p.S1738C 0.205 NULL NULL - no_errors SZT2 HGNC TAF1L 138474 genome.wustl.edu 37 9 32633525 32633525 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 32633525 32633525 G C SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.2053 p.R685G 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TARBP1 6894 genome.wustl.edu 37 1 234565905 234565905 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 234565905 234565905 T A SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known missense c.2537 p.Q846L 0.001 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC TAS2R13 50838 genome.wustl.edu 37 12 11061753 11061753 + Missense_Mutation SNP T T G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 11061753 11061753 T G SNP TAS2R13 ENST00000390677 human ensembl 70_37 -1 known missense c.145 p.I49L 0.533 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC TBC1D3P2 440452 genome.wustl.edu 37 17 60344530 60344530 + RNA SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 60344530 60344530 G A SNP TBC1D3P2 ENST00000339120 human ensembl 70_37 -1 known rna NULL NULL 0.973 - - - no_errors TBC1D3P2 HGNC TBCE 6905 genome.wustl.edu 37 1 235530759 235530759 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 235530759 235530759 C T SNP TBCE ENST00000482230 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TBCE HGNC TCAM1P 146771 genome.wustl.edu 37 17 61937541 61937541 + RNA SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 61937541 61937541 A T SNP TCAM1P ENST00000478379 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TCAM1P HGNC TFAP2A 7020 genome.wustl.edu 37 6 10402730 10402730 + Missense_Mutation SNP A A C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 10402730 10402730 A C SNP TFAP2A ENST00000379604 human ensembl 70_37 -1 known missense c.878 p.V293G 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC THSD7B 80731 genome.wustl.edu 37 2 137988727 137988727 + Missense_Mutation SNP T T C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 137988727 137988727 T C SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.1837 p.C613R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TIPIN 54962 genome.wustl.edu 37 15 66672274 66672274 + RNA SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 15 66672274 66672274 A T SNP TIPIN ENST00000561773 human ensembl 70_37 -1 known rna NULL NULL 0.046 - - - no_errors TIPIN HGNC TMEM163 81615 genome.wustl.edu 37 2 135214288 135214288 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 135214288 135214288 C T SNP TMEM163 ENST00000281924 human ensembl 70_37 -1 known silent c.869 p.*290 1.000 NULL NULL - no_errors TMEM163 HGNC TMEM74B 55321 genome.wustl.edu 37 20 1162032 1162032 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 1162032 1162032 C T SNP TMEM74B ENST00000381894 human ensembl 70_37 -1 known silent c.231 p.G77 0.000 NULL NULL - no_errors TMEM74B HGNC TNKS1BP1 85456 genome.wustl.edu 37 11 57070031 57070031 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 57070031 57070031 C A SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known missense c.4585 p.A1529S 0.000 NULL NULL - no_errors TNKS1BP1 HGNC TNKS1BP1 85456 genome.wustl.edu 37 11 57075888 57075888 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 57075888 57075888 C A SNP TNKS1BP1 ENST00000358252 human ensembl 70_37 -1 known missense c.4297 p.A1433S 0.001 NULL NULL - no_errors TNKS1BP1 HGNC TNRC6C 57690 genome.wustl.edu 37 17 76046332 76046332 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 76046332 76046332 G A SNP TNRC6C ENST00000335749 human ensembl 70_37 +1 known missense c.1189 p.E397K 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC TOMM40 10452 genome.wustl.edu 37 19 45395670 45395670 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 45395670 45395670 G C SNP TOMM40 ENST00000252487 human ensembl 70_37 +1 known missense c.295 p.E99Q 1.000 pfam_Porin_Euk pfam_Porin_Euk - no_errors TOMM40 HGNC TP53 7157 genome.wustl.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 17 7578534 7578534 C G SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.396 p.K132N 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TRAPPC8 22878 genome.wustl.edu 37 18 29446845 29446845 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 29446845 29446845 C G SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known missense c.2557 p.D853H 1.000 NULL NULL - no_errors TRAPPC8 HGNC TRIM17 51127 genome.wustl.edu 37 1 228601524 228601524 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 228601524 228601524 C T SNP TRIM17 ENST00000295033 human ensembl 70_37 -1 known missense c.499 p.E167K 0.972 NULL 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 TRIM51 84767 genome.wustl.edu 37 11 55658629 55658629 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 55658629 55658629 G A SNP TRIM51 ENST00000449290 human ensembl 70_37 +1 known missense c.880 p.E294K 1.000 superfamily_ConA-like_lec_gl_sf,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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC TRIM55 84675 genome.wustl.edu 37 8 67064640 67064640 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 8 67064640 67064640 C T SNP TRIM55 ENST00000315962 human ensembl 70_37 +1 known silent c.1014 p.G338 0.085 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM55 HGNC TRPM2 7226 genome.wustl.edu 37 21 45789054 45789054 + RNA SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 21 45789054 45789054 C A SNP TRPM2 ENST00000498430 human ensembl 70_37 +1 putative rna NULL NULL 0.007 - - - no_errors TRPM2 HGNC TTC21A 199223 genome.wustl.edu 37 3 39154048 39154048 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 39154048 39154048 G C SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.535 p.D179H 0.988 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC TTLL11 158135 genome.wustl.edu 37 9 124736340 124736340 + Missense_Mutation SNP T T A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 124736340 124736340 T A SNP TTLL11 ENST00000321582 human ensembl 70_37 -1 known missense c.1699 p.I567F 1.000 NULL pfam_Tub_tyr_ligase - no_errors TTLL11 HGNC UBXN2A 165324 genome.wustl.edu 37 2 24205898 24205898 + Silent SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 24205898 24205898 A T SNP UBXN2A ENST00000309033 human ensembl 70_37 +1 known silent c.420 p.L140 1.000 superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2A HGNC UNC80 285175 genome.wustl.edu 37 2 210843409 210843409 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 210843409 210843409 G T SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.8897 p.R2966L 1.000 NULL NULL - no_errors UNC80 HGNC USP20 10868 genome.wustl.edu 37 9 132627642 132627642 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 132627642 132627642 C G SNP USP20 ENST00000315480 human ensembl 70_37 +1 known missense c.672 p.F224L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC USP20 10868 genome.wustl.edu 37 9 132640638 132640638 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 9 132640638 132640638 G A SNP USP20 ENST00000315480 human ensembl 70_37 +1 known missense c.2431 p.E811K 1.000 smart_Pept_C19_DUSP pfam_Peptidase_C19,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP20 HGNC USP9X 8239 genome.wustl.edu 37 X 41047349 41047350 + Frame_Shift_Ins INS - - TT TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b X 41047349 41047350 - TT INS USP9X ENST00000324545 human ensembl 70_37 +1 known frame_shift_ins c.3789_3790 p.I1263fs 0.998:1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC USPL1 10208 genome.wustl.edu 37 13 31205523 31205523 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 31205523 31205523 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.780 p.S260 0.000 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC USPL1 10208 genome.wustl.edu 37 13 31227300 31227300 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 13 31227300 31227300 C T SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.1254 p.F418 0.998 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC UTRN 7402 genome.wustl.edu 37 6 145093095 145093095 + Nonsense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 145093095 145093095 C T SNP UTRN ENST00000367545 human ensembl 70_37 +1 known nonsense c.8548 p.Q2850* 1.000 pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC VDAC1 7416 genome.wustl.edu 37 5 133326815 133326815 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 5 133326815 133326815 C G SNP VDAC1 ENST00000265333 human ensembl 70_37 -1 known missense c.148 p.E50Q 1.000 pfam_Porin_Euk pfam_Porin_Euk,prints_Porin_Euk - no_errors VDAC1 HGNC VDR 7421 genome.wustl.edu 37 12 48251431 48251431 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 12 48251431 48251431 C T SNP VDR ENST00000229022 human ensembl 70_37 -1 known missense c.318 p.M106I 1.000 NULL 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_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC VGLL4 9686 genome.wustl.edu 37 3 11600915 11600915 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 11600915 11600915 C T SNP VGLL4 ENST00000430365 human ensembl 70_37 -1 known silent c.510 p.V170 0.997 NULL smart_TDU_repeat - no_errors VGLL4 HGNC VWA7 80737 genome.wustl.edu 37 6 31744617 31744617 + RNA SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 31744617 31744617 C G SNP VWA7 ENST00000497645 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors VWA7 HGNC WDFY3-AS2 404201 genome.wustl.edu 37 4 85888148 85888148 + RNA SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 4 85888148 85888148 C T SNP WDFY3-AS2 ENST00000318186 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors WDFY3-AS2 HGNC WIZ 58525 genome.wustl.edu 37 19 15550220 15550220 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 15550220 15550220 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.1441 p.E481K 0.864 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WNT4 54361 genome.wustl.edu 37 1 22448032 22448032 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 22448032 22448032 C T SNP WNT4 ENST00000290167 human ensembl 70_37 -1 known silent c.351 p.S117 0.948 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt4 - no_errors WNT4 HGNC XCL2 6846 genome.wustl.edu 37 1 168511278 168511278 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 168511278 168511278 G T SNP XCL2 ENST00000367819 human ensembl 70_37 -1 known missense c.129 p.S43R 0.001 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 - no_errors XCL2 HGNC XIRP2 129446 genome.wustl.edu 37 2 168115064 168115064 + Missense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 168115064 168115064 G A SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known missense c.2107 p.E703K 0.997 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC XIRP2 129446 genome.wustl.edu 37 2 168115687 168115687 + Silent SNP A A T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 168115687 168115687 A T SNP XIRP2 ENST00000420519 human ensembl 70_37 +1 known silent c.2730 p.G910 0.004 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ZBTB16 7704 genome.wustl.edu 37 11 113935017 113935017 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 113935017 113935017 G T SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known missense c.995 p.G332V 1.000 NULL pfam_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 ZBTB16 HGNC ZC3HAV1 56829 genome.wustl.edu 37 7 138745836 138745836 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 7 138745836 138745836 C T SNP ZC3HAV1 ENST00000242351 human ensembl 70_37 -1 known missense c.2042 p.R681K 0.868 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207170956 207170956 + Silent SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 2 207170956 207170956 C T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known silent c.1704 p.T568 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZNF143 7702 genome.wustl.edu 37 11 9516301 9516301 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 11 9516301 9516301 C T SNP ZNF143 ENST00000396602 human ensembl 70_37 +1 known missense c.754 p.H252Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ZNF165 7718 genome.wustl.edu 37 6 28053437 28053437 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 28053437 28053437 C G SNP ZNF165 ENST00000377325 human ensembl 70_37 +1 known missense c.179 p.S60C 0.064 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZNF165 HGNC ZNF292 23036 genome.wustl.edu 37 6 87925755 87925755 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 6 87925755 87925755 G T SNP ZNF292 ENST00000369577 human ensembl 70_37 +1 known missense c.303 p.L101F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ZNF358 140467 genome.wustl.edu 37 19 7585681 7585681 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 7585681 7585681 C A SNP ZNF358 ENST00000394341 human ensembl 70_37 +1 known missense c.1553 p.P518Q 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ZNF445 353274 genome.wustl.edu 37 3 44489008 44489008 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 44489008 44489008 C T SNP ZNF445 ENST00000396077 human ensembl 70_37 -1 known missense c.2155 p.A719T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ZNF519 162655 genome.wustl.edu 37 18 14105614 14105614 + Nonsense_Mutation SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 18 14105614 14105614 G A SNP ZNF519 ENST00000590202 human ensembl 70_37 -1 known nonsense c.925 p.Q309* 0.011 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 ZNF519 HGNC ZNF551 90233 genome.wustl.edu 37 19 58196731 58196731 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 58196731 58196731 C A SNP ZNF551 ENST00000356715 human ensembl 70_37 +1 known missense c.183 p.N61K 0.046 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 ZNF551 HGNC ZNF565 147929 genome.wustl.edu 37 19 36673847 36673847 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 36673847 36673847 C T SNP ZNF565 ENST00000304116 human ensembl 70_37 -1 known missense c.1021 p.G341R 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 ZNF565 HGNC ZNF620 253639 genome.wustl.edu 37 3 40558018 40558018 + Missense_Mutation SNP C C A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 3 40558018 40558018 C A SNP ZNF620 ENST00000314529 human ensembl 70_37 +1 known missense c.933 p.N311K 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 ZNF620 HGNC ZNF648 127665 genome.wustl.edu 37 1 182027076 182027076 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 1 182027076 182027076 G C SNP ZNF648 ENST00000339948 human ensembl 70_37 -1 known missense c.70 p.H24D 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ZNF805 390980 genome.wustl.edu 37 19 57764449 57764449 + Missense_Mutation SNP G G C TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 57764449 57764449 G C SNP ZNF805 ENST00000414468 human ensembl 70_37 +1 known missense c.262 p.G88R 0.002 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 ZNF805 HGNC ZNF814 730051 genome.wustl.edu 37 19 58384994 58384994 + Silent SNP G G A TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 19 58384994 58384994 G A SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known silent c.1764 p.I588 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 ZNF814 HGNC ZNF831 128611 genome.wustl.edu 37 20 57766154 57766154 + Missense_Mutation SNP C C G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5228d17-d2d1-44a6-8357-4fa98faba5eb a4c74f12-0942-4f62-a6e3-bca6765ead1b 20 57766154 57766154 C G SNP ZNF831 ENST00000371030 human ensembl 70_37 +1 novel missense c.80 p.P27R 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC