chrom start end vcf_id variant_id anno_id ref alt qual filter type sub_type call_rate in_dbsnp rs_ids sv_cipos_start_left sv_cipos_end_left sv_cipos_start_right sv_cipos_end_right sv_length sv_is_precise sv_tool sv_evidence_type sv_event_id sv_mate_id sv_strand in_omim clinvar_sig clinvar_disease_name clinvar_dbsource clinvar_dbsource_id clinvar_origin clinvar_dsdb clinvar_dsdbid clinvar_disease_acc clinvar_in_locus_spec_db clinvar_on_diag_assay clinvar_causal_allele clinvar_gene_phenotype geno2mp_hpo_ct pfam_domain cyto_band rmsk in_cpg_island in_segdup is_conserved gerp_bp_score gerp_element_pval num_hom_ref num_het num_hom_alt num_unknown aaf hwe inbreeding_coeff pi recomb_rate gene transcript is_exonic is_coding is_splicing is_lof exon codon_change aa_change aa_length biotype impact impact_so impact_severity polyphen_pred polyphen_score sift_pred sift_score anc_allele rms_bq cigar depth strand_bias rms_map_qual in_hom_run num_mapq_zero num_alleles num_reads_w_dels haplotype_score qual_depth allele_count allele_bal in_hm2 in_hm3 is_somatic somatic_score in_esp aaf_esp_ea aaf_esp_aa aaf_esp_all exome_chip in_1kg aaf_1kg_amr aaf_1kg_eas aaf_1kg_sas aaf_1kg_afr aaf_1kg_eur aaf_1kg_all grc gms_illumina gms_solid gms_iontorrent in_cse encode_tfbs encode_dnaseI_cell_count encode_dnaseI_cell_list encode_consensus_gm12878 encode_consensus_h1hesc encode_consensus_helas3 encode_consensus_hepg2 encode_consensus_huvec encode_consensus_k562 vista_enhancers cosmic_ids info cadd_raw cadd_scaled fitcons in_exac aaf_exac_all aaf_adj_exac_all aaf_adj_exac_afr aaf_adj_exac_amr aaf_adj_exac_eas aaf_adj_exac_fin aaf_adj_exac_nfe aaf_adj_exac_oth aaf_adj_exac_sas exac_num_het exac_num_hom_alt exac_num_chroms max_aaf_all chr19 618158 618159 None 4 21 A G 195.324996948 None snp ts 1.0 1 rs11672829 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -0.0414999984205 None 0 0 3 0 1.0 1 None 0 0.584727 POLRMT ENST00000588649 0 0 0 0 17 c.3423-310T>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 9 None None None None 6 None None None 6 0.0 None None None None 0 -1 -1 -1 0 1 0.4006 0.5863 0.7832 0.7383 0.5119 0.624201 None None None None 0 None 11 8988t;A549;Adult_Th0;Gliobla;Gm12891;HESC;HMEC;Huh75;Myometr;Osteobl;T47d T unknown unknown T T T None None None -0.1 3.5 0.252514 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 0.7832 chr19 619020 619021 None 9 1 G C 358.570007324 None snp tv 1.0 1 rs14155 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 RNA_pol chr19p13.3 None 1 0 1 -2.69000005722 1.00186e-31 0 1 2 0 0.833333333333 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 1 1 0 0 15 ccC/ccG p.Pro1081Pro/c.3243C>G 1230 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 16 None None None None 6 None None None 5 0.25 None None None None 1 0.490811816702 0.674783796086 0.553032635468 0 1 0.4006 0.5823 0.7822 0.7352 0.5119 0.622404 None None None None 0 None None None T unknown unknown T T T None COSM148451 None -0.8 0.68 0.67177 1 0.526 0.543461167304 0.688895655704 0.374353572113 0.595341018252 0.498255813953 0.492231979157 0.555555555556 0.761738327618 27247 16787 111916 0.7822 chr19 619138 619139 None 10 25 G A 146.940002441 None snp ts 1.0 1 rs11669180 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -7.03000020981 None 1 1 1 0 0.5 0.563702861715 0.333333333333 0.6 0.585505 POLRMT ENST00000588649 0 0 0 0 14 c.3154-29C>T 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 14 None None None None 6 None None None 3 0.5 None None None None 1 0.0469876715515 0.00908677873694 0.0341538461538 0 1 0.0303 0 0.0102 0.0008 0.0537 0.0171725 None None None None 0 GR_2 6 8988t;Hepatocytes;Mcf7Hypoxlac;Medullo;Osteobl;hTH1 T unknown unknown T T T None None None -0.53 1.59 0.099367 1 0.033 0.0333808246731 0.00747737111373 0.0213801494872 0 0.028602018966 0.0501195878818 0.0461711711712 0.010007322431 3743 120 119320 0.0537 chr19 619407 619408 None 11 25 A G 218.791000366 None snp ts 1.0 1 rs10853989 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 1.30999994278 None 0 2 1 0 0.666666666667 0.38647623074 -0.5 0.533333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 13 c.3067-112T>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 13 None None None None 6 None None None 4 0.285714000463 None None None None 0 -1 -1 -1 0 1 0.2305 0.3313 0.4581 0.438 0.333 0.370607 None None None None 0 None None None T unknown T T T T None None None 0.17 4.94 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 0.4581 chr19 619573 619574 None 12 25 T G 594.638977051 None snp tv 1.0 1 rs10853990 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 0.709999978542 None 0 0 3 0 1.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 0 0 13 c.3066+12A>C 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 18 None None None None 6 None None None 6 0.0 None None None None 1 0.48696461825 0.564032697548 0.513080947984 0 1 0.3775 0.5823 0.7802 0.5915 0.504 0.579273 None None None None 0 None None None T unknown T T T T None None None 0.05 4.26 0.115753 1 0.515 0.51814833417 0.567434534357 0.351694178975 0.589701770736 0.467252880534 0.477373000797 0.540178571429 0.74799270073 28115 16891 119460 0.7802 chr19 619771 619772 None 13 1 G C 605.588012695 None snp tv 1.0 1 rs11669381 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 1 -2.26999998093 None 0 0 3 0 1.0 1 None 0 0.585505 POLRMT ENST00000588649 0 0 1 0 12 c.2887C>G 1230 protein_coding splice_region_variant splice_region_variant MED None None None None None None 1X 21 None None None None 6 None None None 6 0.0 None None None None 1 0.485071145323 0.558689717925 0.510023130301 0 1 0.3775 0.5823 0.7802 0.5893 0.504 0.578674 None None None None 0 None 4 Ips;Mcf7Hypoxlac;Melano;T47d T unknown T T T T None None None 0.02 4.12 0.252514 1 0.51 0.507415657087 0.568265682657 0.350622043105 0.590639106676 0.467727272727 0.475548087694 0.530150753769 0.756382202772 26254 14892 110442 0.7802 chr19 619912 619913 None 14 26 T C 312.600006104 None snp ts 1.0 1 rs2074548 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 None 1 0 0 -1.66999995708 None 0 2 1 0 0.666666666667 0.38647623074 -0.5 0.533333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 12 c.2886+45A>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 20 None None None None 6 None None None 4 0.588235020638 None None None None 1 0.175463288764 0.0648994515539 0.137963106495 0 1 0.1354 0.2391 0.1534 0.0658 0.2107 0.15655 None None None None 0 None None None T unknown T T unknown T None None None -0.08 3.6 0.069865 1 0.169 0.191597688903 0.074298293891 0.132882882883 0.270142818647 0.229083665339 0.207189983506 0.234870317003 0.177350711531 15229 1737 97616 0.270142818647 chr19 620806 620807 None 29 24 G A 48.1334991455 None snp ts 1.0 1 rs117097376 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 Low_complexity_Low_complexity_G-rich;trf;trf;trf;trf 1 0 0 0.0 None 1 2 0 0 0.333333333333 0.38647623074 -0.5 0.533333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 10 c.2640+251C>T 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1X 6 None None None None 6 None None None 2 0.600000023842 None None None None 0 -1 -1 -1 0 1 0.1326 0.2371 0.1616 0.0469 0.2127 0.152756 None None None None 0 None None None T unknown unknown unknown unknown T None None None -0.4 2.11 0.067858 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 0.2371 chr19 620998 621020 None 31 24 CGCCGGGGGAGGGCGCGGGGGT C 101.459999084 None indel del 1.0 0 None None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 Low_complexity_Low_complexity_G-rich;trf;trf;trf;trf 1 0 0 0.0 None 1 2 0 0 0.333333333333 0.38647623074 -0.5 0.533333333333 0.585505 POLRMT ENST00000588649 0 0 0 0 10 c.2640+38_2640+58delACCCCCGCGCCCTCCCCCGGC 1230 protein_coding intron_variant intron_variant LOW None None None None None None 1M21D1M 11 None None None None 6 None None None 2 0.600000023842 None None None None 0 -1 -1 -1 0 0 -1 -1 -1 -1 -1 -1 None None None None 0 None None None T unknown unknown unknown unknown T None None None None None 0.069865 0 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1 -1.0 chr19 621019 621020 None 32 24 T C 101.459999084 None snp ts 1.0 1 rs111437074 None None None None None 1 None None None None None None None None None None None None None None None None None None -1 None chr19p13.3 Low_complexity_Low_complexity_G-rich;trf;trf;trf;trf 1 0 0 -3.09999990463 None 0 3 0 0 0.5 0.0832645169833 -1 0.6 0.585505 POLRMT ENST00000588649 0 0 0 0 10 c.2640+38A>G 1230 protein_coding intron_variant intron_variant LOW None None None None None None 21M1X1M 11 None None None None 6 None None None 3 0.40000000596 None None None None 1 0.514882506527 0.811540497618 0.612869382759 0 1 0.4035 0.6637 0.8139 0.8714 0.5169 0.682308 None None None None 0 None None None T unknown unknown unknown unknown T None None None 0.07 4.38 0.069865 1 0.044 0.220028544244 0.452631578947 0.0372208436725 0.141221374046 0.162790697674 0.0857142857143 0.210526315789 0.537243150685 826 512 8408 0.8714 chr19 621711 621712 None 37 1 A G 440.347991943 None snp ts 1.0 1 rs2238547 None None None None None 1 None None None None None None None None None None None None None None None None None None 111 None chr19p13.3 None 1 0 1 3.57999992371 1.0552e-96 0 1 2 0 0.833333333333 0.72903448947 -0.2 0.333333333333 0.585505 POLRMT ENST00000588649 1 1 0 0 10 gcT/gcC p.Ala662Ala/c.1986T>C 1230 protein_coding synonymous_variant synonymous_variant LOW None None None None None None 1X 18 None None None None 6 None None None 5 0.428570985794 None None None None 0 -1 -1 -1 0 1 0.3905 0.5813 0.7802 0.7398 0.504 0.620008 None None None None 0 None None None T unknown T T T T None COSM440577 None -0.38 2.2 0.706548 1 0.516 0.54942411989 0.687228695454 0.387757201646 0.603094123765 0.510170870627 0.496691739797 0.57180156658 0.758719002785 26157 15591 104362 0.7802