Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP46_chr10_132803392_132947570	132824228	G G	GTGTGAGT others(217): Show GTGTGAGTGCTAATGTGTGCTGTGTGTGCTGCTTGTGTGTGCTGTGTGTG TGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGCTGTGTG TGCTGATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGCGGTGATGTG TGCTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGT GTGCTGTGTGCTGTGTGAGCGCTGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02886.hp1 HG00733.hp2 HG02109.hp2 HG02886.hp1	a0031 a0044 a0052 a0031 a0044 a0052	a0031c0101 a0044c0102 a0052c0037 a0031c0101 a0044c0102 a0052c0037	a0031c0101t0002 a0044c0102t0002 a0052c0037t0001 a0031c0101t0002 a0044c0102t0002 a0052c0037t0001	a0031c0101t0002g0022 a0044c0102t0002g0018 a0052c0037t0001g0230 a0031c0101t0002g0022 a0044c0102t0002g0018 a0052c0037t0001g0230	3	246	0.0122	224	c.711 others(243): Show c.7117+9129_7117+9130insTCAGCGCTCACACAGCACACAGCACA CACACAGCACACATCAGCACACACACAGCACACATCAGCGCACACAGCAC ACATCACCGCACACACAGCACACAGTGCACACATCAGCACACATCAGCAC ACACAGCACACATCAGCACACATCAGCACTCACACAGCACACATCAGCAC ACACACAGCACACACAAGCAGCACACACAGCACACATTAGCACTCACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20296028	T T	TTCCTGCC others(217): Show TTCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTGCCTTCCCTTCCTCCCT CCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTC TTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTT CTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCC TTCCTTCCCATCCTCCTACCCTCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0008 a0001c0024t0008	a0001c0024t0008g0176 a0001c0024t0008g0176	1	236	0.0042	224	c.321 others(243): Show c.3217-2151_3217-2150insCTGCCTGCCTGCCTGCCTGCCTGCCT TCCTGCCTTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTC CCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTT TCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCC TTCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCCTCCTACCCTCCCTC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP74_chr1_1916957_2008786	1971120	C C	CTCGCACA others(217): Show CTCGCACATGCACACCTGCACACACGTGCACAGACGTGCTTACATGCACA CCTGCACACATACGCGTGCACGCCTGCACACACATGCACACACTCACGCA TGCACACACATGCAAACCTGCACACACGTGCACATACACGCTCACACATG CACACCTGCAGACACTTGCACACCTGCACACACGTGCACACACATGCACA CACGTGCACACCTGCACACACACGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0031 a0031	a0031c0059 a0031c0059	a0031c0059t0001 a0031c0059t0001	a0031c0059t0001g0025 a0031c0059t0001g0025	1	278	0.0036	224	c.889 others(239): Show c.889-305_889-304insCCGTGTGTGTGCAGGTGTGCACGTGTGTGC ATGTGTGTGCACGTGTGTGCAGGTGTGCAAGTGTCTGCAGGTGTGCATGT GTGAGCGTGTATGTGCACGTGTGTGCAGGTTTGCATGTGTGTGCATGCGT GAGTGTGTGCATGTGTGTGCAGGCGTGCACGCGTATGTGTGCAGGTGTGC ATGTAAGCACGTCTGTGCACGTGTGTGCAGGTGTGCATGTGCGA	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	9/38			chr1	TogoVar
CHM_chrX_85856180_86052558	85911190	T T	TATATATA others(217): Show TATATATATGAATATATATATATGAATATATATATGAATATATATATATG AATATATATATATGAATATATATATGAATATATATATGAATATATATATG AATATATATGAATATATATATGAATATATATATGAATATATATATGAATA TATATATGAATATATATATGAATATATATATGAATATATATATATGAATA TATATATGAATATATATATATATGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0196 a0001c0001t0009g0199 a0001c0001t0009g0196 a0001c0001t0009g0199	2	245	0.0082	224	c.124 others(239): Show c.1244+70_1244+71insTCATATATATATATATTCATATATATATTC ATATATATATATTCATATATATATTCATATATATATTCATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATTCATAT ATATATTCATATATATATTCATATATATATTCATATATATATATTCATAT ATATATATTCATATATATATTCATATATATATATTCATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CLCN6_chr1_11801191_11848130	11829529	T T	TGAACAAC others(217): Show TGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCA CAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAA CAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGA GGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAAC CCTGGCGTCACAGAGGGGAACCTGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0037 a0001c0001t0030g0037	1	290	0.0035	224	c.124 others(241): Show c.1248+380_1248+381insGTCACAGAGGGGAACCTGGGAACAACCC TGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAA CCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGC GTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTG GGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGC	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT3_chr19_54132762_54160681	54134145	C C	CCTCTCCA others(217): Show CCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC TCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	223	0.0045	224	c.-38 others(235): Show c.-3899_-3898insCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3616		chr19	TogoVar
COL18A1_chr21_45400165_45518720	45500619	T T	TGTGTGTG others(217): Show TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGTGTGGTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0264 a0001c0003t0003g0264	1	292	0.0034	224	c.268 others(243): Show c.2683+3020_2683+3021insTGTGGTTTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098485	A A	AAATATAT others(217): Show AAATATATATAAATATATAAAAATATATATAAATATATAAATATATATAA ATATAAAAATATATATAAATATATAAATATATATAAATATATATGTAAAT ATATAAATATATAGAAATATATATGTAAATCTATATATAAATATATAAAT ATATATAAATCTATATATAAATATATAAATATATATAAATCTATATATAA ATATATAAATATATATAAATATATG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01515.hp2 HG02572.hp1 HG01071.hp1 HG01515.hp2 HG02572.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0002 a0006c0011 a0009c0012 a0001c0002 a0006c0011 a0009c0012	a0001c0002t0002 a0006c0011t0004 a0009c0012t0004 a0001c0002t0002 a0006c0011t0004 a0009c0012t0004	a0001c0002t0002g0197 a0006c0011t0004g0091 a0009c0012t0004g0030 a0001c0002t0002g0197 a0006c0011t0004g0091 a0009c0012t0004g0030	3	264	0.0114	224	c.181 others(243): Show c.1812+2986_1812+2987insCATATATTTATATATATTTATATATT TATATATAGATTTATATATATTTATATATTTATATATAGATTTATATATA TTTATATATTTATATATAGATTTACATATATATTTCTATATATTTATATA TTTACATATATATTTATATATATTTATATATTTATATATATTTTTATATT TATATATATTTATATATTTATATATATTTTTATATATTTATATATATT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL26A1_chr7_101357875_101564024	101417602	G G	GTATATCT others(217): Show GTATATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAG ACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACAT AGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT CTATATCTAGACATAGATATAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03516.hp1 HG02647.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0020 a0002c0004t0001 a0001c0002t0020 a0002c0004t0001	a0001c0002t0020g0001 a0002c0004t0001g0138 a0001c0002t0020g0001 a0002c0004t0001g0138	2	174	0.0115	224	c.159 others(241): Show c.159-2368_159-2367insCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACAT AGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT CTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGAT ATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(217): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0182 a0002c0004t0001g0182	1	344	0.0029	224	c.85- others(241): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A3_chr19_9954561_10015504	9970032	G G	GTGGGGTC others(217): Show GTGGGGTCTGTGGGTGAGTGGGGTCTGGGTGAATGGGGTCTGTGGGTGAG TGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGGG TGAGTGGGGTCTGTGGGGTGAGTGGGTGCTGTGGGTGAGTGGGGTCTTTG GGGTGAGGTGGGGTGTGTGGATGAGTGGGGTCTGTGGGTGAGTGGGGTCT GGGTGAATGGGGTCTGTGGGGTGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp2 NA19043.hp1 HG03453.hp1 HG03579.hp2 NA19043.hp1	a0027 a0035 a0027 a0035	a0027c0039 a0035c0080 a0027c0039 a0035c0080	a0027c0039t0014 a0035c0080t0015 a0027c0039t0014 a0035c0080t0015	a0027c0039t0014g0182 a0027c0039t0014g0192 a0035c0080t0015g0110 a0027c0039t0014g0182 a0027c0039t0014g0192 a0035c0080t0015g0110	3	412	0.0073	224	c.393 others(241): Show c.3937-111_3937-110insTTCACCCCACAGACCCCATTCACCCAGA CCCCACTCACCCACAGACCCCACTCATCCACACACCCCACCTCACCCCAA AGACCCCACTCACCCACAGCACCCACTCACCCCACAGACCCCACTCACCC CACAGCCCCCACTCACCCCACAGACCCCACTCACCCCACAGACCCCACTC ACCCACAGACCCCATTCACCCAGACCCCACTCACCCACAGACCCCA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL5A3_chr19_9954561_10015504	9970092	T T	TGGGTGAG others(217): Show TGGGTGAGTGGGGTCTGGGTGAATGGGGTCTGTGGGTGAGTGGGGGCTGT GGGGTGAGTGGGTGCTGTGGGTGAGTGGGGTCTGTGGGGTGAGTGGGTGC TGTGGGTGAGTGGGGTCTTTGGGGTGAGGTGGGGTGTGTGGATGAGTGGG GTCTGTGGGTGAGTGGGGTCTGGGTGAATGGGGTCTGTGGGGTGAATGGG TTCTGTGGGGTGAATGGGGTCTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp1 HG06807.hp1 HG02717.hp1 HG03041.hp1 HG06807.hp1	a0007 a0036 a0007 a0036	a0007c0082 a0036c0042 a0007c0082 a0036c0042	a0007c0082t0007 a0036c0042t0001 a0007c0082t0007 a0036c0042t0001	a0007c0082t0007g0169 a0036c0042t0001g0115 a0036c0042t0001g0116 a0007c0082t0007g0169 a0036c0042t0001g0115 a0036c0042t0001g0116	3	412	0.0073	224	c.393 others(241): Show c.3937-171_3937-170insCACAGACCCCATTCACCCCACAGAACCC ATTCACCCCACAGACCCCATTCACCCAGACCCCACTCACCCACAGACCCC ACTCATCCACACACCCCACCTCACCCCAAAGACCCCACTCACCCACAGCA CCCACTCACCCCACAGACCCCACTCACCCACAGCACCCACTCACCCCACA GCCCCCACTCACCCACAGACCCCATTCACCCAGACCCCACTCACCC	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL9A3_chr20_62812050_62846159	62823998	T T	TGGAGTGG others(217): Show TGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGGT CCTGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCCCGGGGCC CCGTCACCCACGCGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTG GCCTCCTGGGGTCCCGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGG CCTCCCGGGGCCCCGTCACCCACGC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0002 a0008c0044t0002	a0008c0044t0002g0355 a0008c0044t0002g0355	1	412	0.0024	224	c.520 others(239): Show c.520-355_520-354insCGGGGCCCCGTCACCCACGCGGAGTGGCCT CCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGGTCCCGTCACCCA GAGTGTCCCGACACCCGCGCGGAGTGGCCTCCCGGGGCCCCGTCACCCAC GCGGAGTGGCCTCCTGGGGTCCCGTCACTGTGTGGAGTGGCCTCCTGGGG TCCTGTCACCCAGAGTGTCCCGACACCCGCGCGGAGTGGCCTCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(217): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02074.hp1 HG02723.hp2 others(1): Show HG01361.hp2 HG02074.hp1 HG02723.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186	4	448	0.0089	224	c.51+ others(239): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287075	G G	ATAGCATG others(217): Show ATAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACAT ACTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAG CATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTA TGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATG TATACTACATACTATGTATATCATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0199 a0001c0001t0004g0199	1	448	0.0022	224	c.51+ others(239): Show c.51+2287_51+2288insATGATATACATAGTATGTAGTATACATGCT ACATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTAT GTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACAT GATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAG TATACATGCTACATGATATACATAGTATGTAGTATACATGCTAT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CPNE7_chr16_89570758_89602246	89597986	G G	GTCCACCC others(217): Show GTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCAT CCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCC GCCCACCCATCCGTCCACCCATCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02559.hp2 others(6): Show HG01192.hp2 HG01243.hp2 HG02559.hp2 HG02818.hp1 HG02922.hp1 HG03098.hp1 HG03453.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0027 a0001c0002 a0001c0008 a0001c0027	a0001c0002t0002 a0001c0002t0005 a0001c0008t0005 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0008t0005 a0001c0027t0005	a0001c0002t0002g0321 a0001c0002t0005g0163 a0001c0002t0005g0186 others(6): Show a0001c0002t0002g0321 a0001c0002t0005g0163 a0001c0002t0005g0186 a0001c0002t0005g0187 a0001c0002t0005g0197 a0001c0002t0005g0295 a0001c0002t0005g0320 a0001c0008t0005g0014 a0001c0027t0005g0156	9	348	0.0259	224	c.13 others(235): Show c.1365_*1366insTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACC CATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTG TCCACCCATTCCCCCGCCCACCCATCCGTCCACCCATCCT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		741		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598059	C C	CCCATCCC others(217): Show CCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCG TCCACTCACCCATCTGTCCACCCATTCCCCCGCCCACCCATCCGTCCACC CATCTGTCCACCTATCTGTCCACCCATCCGTCCACCCATCCGTCCACCCA TCCCCCCACCCACCCGTCCGTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02280.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0336 a0001c0009t0001g0013 a0001c0001t0001g0336 a0001c0009t0001g0013	2	348	0.0058	224	c.14 others(235): Show c.1438_*1439insCCATCCCCCCACCCACCCATCTGTCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGT CCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCGCCC ACCCATCCGTCCACCCATCTGTCCACCTATCTGTCCACCCATCCGTCCAC CCATCCGTCCACCCATCCCCCCACCCACCCGTCCGTCCAT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		814		chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(217): Show ATATATATATATATATATATATATATATATATATATATATATTTCTATAT ATATATATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	370	0.0027	224	c.56 others(235): Show c.5645_*5646insTATATATATATATATATATATATATATATATATA TATATATTTCTATATATATATATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924027	C C	CCCCCACA others(217): Show CCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACAC TAACCCGGCCCCCACACTGACCCAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18964.hp1 NA19005.hp1 others(2): Show NA18945.hp1 NA18964.hp1 NA19005.hp1 NA19064.hp2 NA19085.hp1	a0007 a0010 a0007 a0010	a0007c0007 a0010c0010 a0007c0007 a0010c0010	a0007c0007t0001 a0007c0007t0003 a0010c0010t0001 others(1): Show a0007c0007t0001 a0007c0007t0003 a0010c0010t0001 a0010c0010t0003	a0007c0007t0001g0094 a0007c0007t0001g0212 a0007c0007t0003g0209 others(2): Show a0007c0007t0001g0094 a0007c0007t0001g0212 a0007c0007t0003g0209 a0010c0010t0001g0115 a0010c0010t0003g0211	5	350	0.0143	224	c.488 others(241): Show c.488+1386_488+1387insACACTGACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATC CGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACAC TAACCCAGCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924143	G G	GACCCGGC others(217): Show GACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACA CTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAATCCGGCCCCCACACTA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0215 a0007c0007t0001g0215	1	350	0.0029	224	c.488 others(241): Show c.488+1502_488+1503insGGCCCCCCACACTAACCCGGCCCCCACA CTAACCCAGCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924307	C C	CCCCCACA others(217): Show CCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTG ACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0230 a0010c0010t0001g0230	1	350	0.0029	224	c.489 others(241): Show c.489-1413_489-1412insACACTAATCCGGCCCCCACACTAACCCG GCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTA ACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240980085	A A	AGGAGCCC others(217): Show AGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAT CCCAGGCTCATCCCTGCTCAGTCTTTGGGTAGGAGCCTCAGGAGCCCAGA CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCACCCCTC CTCAGTCTCTGGGGTAGGAGCCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0006 a0002c0021t0006	a0002c0021t0006g0069 a0002c0021t0006g0072 a0002c0021t0006g0069 a0002c0021t0006g0072	2	350	0.0057	224	c.440 others(243): Show c.4402-2792_4402-2791insGCCCAGGCTCATCCCTGCTCAGGCTC TGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTTTGGGT AGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCACCCCTCCTCAGTCTCTGGGGTAGGAGCCTCTGGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1284266	T T	TGATCTCG others(217): Show TGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCCCA CTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAG CTAATTTAAATTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCC AAGACTAGTTTTTGATTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGT CACCCAGGCTGGAGTGCAGTGGCGC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0128 a0001c0007t0002g0128	1	159	0.0063	224	c.77- others(239): Show c.77-1394_77-1393insAATTTTATAGAGGAGATCTTGCTATGTTGC CAAGACTAGTTTTTGATTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTG TCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAG CTTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGAC TGCAGAAATACACCACCATGCCAAGCTAATTTAAATTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CTDP1_chr18_79674803_79759503	79691775	G G	GAGTGGAC others(217): Show GAGTGGACGGCTCCCAGGGTGGACTCAGGGTGGGGAGGAGTGGACGGCTC CCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTC GGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGAGAAG AGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCC CAGGGTGGACTCGGGGTGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	378	0.0027	224	c.315 others(241): Show c.315-3425_315-3424insAGGGTGGGGAGGAGTGGACGGCTCCCAG GGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGG TGGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGTGGGAGAAGAGTG GACGGCTCCCAGGGTGGACTCGGGGTGGGGAGGAGTGGACGGCTCCCAGG GTGGACTCGGGGTGGGGAGGAAGTGGACGGCTCCCAGGGTGGACTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79746154	T T	TCCCCGCG others(217): Show TCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGC GTTCTGTGCCTGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTCCCTCCC GTGCGCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTC CCTCCCGTGCGCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGTCCC CGCGTCCCTCCCGTGCGCGTTCTGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0311 a0004c0004t0001g0311	1	378	0.0027	224	c.274 others(243): Show c.2748-7450_2748-7449insCGTTCTGTGCCTGCGTCCCTCCCGTG CGCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGCGTCCCT CCCGTGCGCGTTCTGACCCCGCGTCCCTCCCGTGCGCGTTCTGACCCCGC GTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGA CCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP20A1_chr2_203234018_203311026	203251793	G G	GTGTATAT others(217): Show GTGTATATATATATATATATATATATATATGTGTATATATATATATATAT ATATATATGTGTGTATATATATATATATATATATGTGTATATATATATAT ATATATATATATATGTGTGTATATATATATATATATATGTGTATATATAT ATATATATATATATATGTGTATATATATATATATATATGTGTATATATAT ATATATATATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0105 a0002c0002t0105	a0002c0002t0105g0258 a0002c0002t0105g0258	1	334	0.0030	224	c.290 others(239): Show c.290-173_290-172insGTATATATATATATATATATATATATATGT GTATATATATATATATATATATATATGTGTGTATATATATATATATATAT ATGTGTATATATATATATATATATATATATATGTGTGTATATATATATAT ATATATGTGTATATATATATATATATATATATATGTGTATATATATATAT ATATATGTGTATATATATATATATATATATATATGTGTATATAT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(217): Show ATATATGTGTGTATATATATATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATATATATGTGTATATAT ATATATATATATATGTGTATATATATATATATATGTGTATATATATATAT ATATATATATATGTGTATATATATATATATATATATATATATATGTGTAT ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0122 a0002c0002t0122	a0002c0002t0122g0280 a0002c0002t0122g0280	1	334	0.0030	224	c.290 others(239): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATATATGTGTATATATATATATATATATATGTGTATATATATATATATA TATATATGTGTATATATATATATATATATATGTGTATATATATATATATA TGTGTATATATATATATATATATATATATGTGTATATATATATATATATA TATATATATATGTGTATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(217): Show ATATATGTGTGTATATATATATATATATATATATATATGTGTATATATAT ATATATATGTGTATATATATATATATATATATGTGTATATATATATATAT ATATATGTGTGTATATATATATATATATATGTGTGTATATATATATATAT ATATATATATATGTGTGTATATATATATATATATATATATATATGTGTAT ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0244 a0002c0002t0002g0244	1	334	0.0030	224	c.290 others(239): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATATGTGTATATATATATATATATGTGTATATATATATATATATATATG TGTATATATATATATATATATATGTGTGTATATATATATATATATATGTG TGTATATATATATATATATATATATATATGTGTGTATATATATATATATA TATATATATATGTGTATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(217): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCTCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03041.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0188 a0001c0001t0001g0019 a0001c0001t0001g0188	3	292	0.0103	224	c.165 others(239): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGA GAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGA GGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DBN1_chr5_177451610_177478634	177468082	C C	CCCCTTCC others(217): Show CCCCTTCCCCAGCCCCGGCCGCATACCCAGTTGATGAGCAGCTCTGGGCC TTCAGTTCCCTTCCCCAGCCCCGGCCGCATACCCAGTTGATGAGCAGCTC TGGGCCCTCAGCCCCCTTCCCCAGCCCCGGCCGCATACCCAGTTGATGAG CAGCTCTGGGCCCTCAGCCCCCTTCCCCAGCCCCGGCCGCATACCCAGTT GATGAGCAGCTCTGGGCCTTCAGTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	346	0.0029	224	c.255 others(237): Show c.255+25_255+26insAACTGAAGGCCCAGAGCTGCTCATCAACTGGG TATGCGGCCGGGGCTGGGGAAGGGGGCTGAGGGCCCAGAGCTGCTCATCA ACTGGGTATGCGGCCGGGGCTGGGGAAGGGGGCTGAGGGCCCAGAGCTGC TCATCAACTGGGTATGCGGCCGGGGCTGGGGAAGGGAACTGAAGGCCCAG AGCTGCTCATCAACTGGGTATGCGGCCGGGGCTGGGGAAGGG	DBN1	ENSG00000113758.14	transcript	ENST00000393565.6	protein_coding	3/14			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668233	T T	TTATATAT others(217): Show TTATATATATATATAAAATGGATATTTTATATATATATAAAATGGATATT TTATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTT ATATATATATAAAATGGATATTTTATATATATATATAAAATGGATATTTT ATATATATATAAAATGGATATTTTATATATATATAAAATGGATATTTTAT ATATATATATAAAATGGATATTATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	292	0.0034	224	c.314 others(243): Show c.314+18728_314+18729insTATAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATAAA ATATCCATTTTATATATATATAAAATATCCATTTTATATATATATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKD_chr2_233349494_233477098	233397204	G G	GGCAGAGG others(217): Show GGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGG GGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGG CAGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTG AGAGGACACCAGAGGGGACCAGGGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 NA18522.hp1 HG02965.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0160 a0001c0004t0014g0162 a0001c0004t0014g0164 a0001c0004t0014g0160 a0001c0004t0014g0162 a0001c0004t0014g0164	3	336	0.0089	224	c.348 others(241): Show c.348+6722_348+6723insCAGAGGCCAGAGTGAGAGGACTCCAGAG GGGACCAGGGTGGCTGGGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGG ACCAGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGGACTCCAGAGGGGACC AGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGT GGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2B_chr12_50499985_50753657	50593784	C C	CCTCCCCT others(217): Show CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCTCCCCTCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	284	0.0035	224	c.101 others(243): Show c.101-32191_101-32190insTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	608558	C C	CACACACA others(217): Show CACACACACACATCCCCCCCACACACACACATCCCCCCCACACACACACA TCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACAC ACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCC CCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACACAC ACACATCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	88	0.0114	224	c.85+ others(241): Show c.85+80935_85+80936insATGTGTGTGTGTGGGGGGGATGTGTGTG TGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGA TGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTG TGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGT GTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(217): Show CCTCCACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACC ATCACCATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCACTTCCTTCACCA CCACCACCATCTTCACCGTCACCACCACCTCCACCACCACCACCTCCTCC ACCACCACCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp2 NA19074.hp2 HG02083.hp2 HG02129.hp2 NA19074.hp2	a0002 a0011 a0002 a0011	a0002c0104 a0011c0164 a0011c0165 a0002c0104 a0011c0164 a0011c0165	a0002c0104t0005 a0011c0164t0001 a0011c0165t0005 a0002c0104t0005 a0011c0164t0001 a0011c0165t0005	a0002c0104t0005g0045 a0011c0164t0001g0215 a0011c0165t0005g0017 a0002c0104t0005g0045 a0011c0164t0001g0215 a0011c0165t0005g0017	3	256	0.0117	224	c.323 others(243): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACTATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACTTCCTTCACCACCACCACCATCTTCACCGTCACCACCAC CTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89635051	T T	TCCTTTCC others(217): Show TCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	250	0.0040	224	c.105 others(239): Show c.105-842_105-841insCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(217): Show ATATATATATAGTGTATATATAGTATATATATAGTATATATATAGTATAT ATATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATGTATATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	316	0.0032	224	c.355 others(243): Show c.355-25616_355-25615insGTATATATAGTATATATATAGTATAT ATATAGTATATATATATATAGTGTATATATATAGTATATATATATAGTGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATGTATATATATATAGTATATATATAGT ATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF3H_chr8_116637130_116760823	116679364	C C	CGGTCAGC others(217): Show CGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCATCCGGGAGGAAGGTGGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0258 a0001c0001t0015g0315 a0001c0001t0015g0258 a0001c0001t0015g0315	2	336	0.0060	224	c.290 others(243): Show c.290-20385_290-20384insCCCCCACCTTCCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGATCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIPR1_chr2_3183970_3382818	3315770	T T	TACCACCA others(217): Show TACCACCATCCTCACCACCATCCCCATCCACAGCCCCTACCACCACCATC ACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCA TACACACCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	250	0.0040	224	c.259 others(243): Show c.259+22246_259+22247insGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTAT GGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGAGGATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELL_chr19_18437663_18527070	18442165	A A	ACCACACA others(217): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACCCACCCCAAC ACACACCACACACCCCACACTGCACACCCCAACACACCCTCACACCACAC ACCAACACACACCACACCCACACCACACATAACAAACCACACCCACACCC AACACACATACCACATCCACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp1 HG02896.hp1 HG02622.hp1 HG02647.hp1 HG02896.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0174 a0001c0005t0007g0175 a0001c0005t0007g0176 a0001c0005t0007g0174 a0001c0005t0007g0175 a0001c0005t0007g0176	3	244	0.0123	224	c.25 others(235): Show c.2586_*2587insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTGTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGT GAGGGTGTGTTGGGGTGTGCAGTGTGGGGTGTGTGGTGTGTGTTGGGGTG GGTGTGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGG GTGTGGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		497		chr19	TogoVar
ENOX1_chr13_43208130_43791972	43416080	C C	CTCCCAGA others(217): Show CTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCACTTCCCAGACGGGG TGGCCGGGCAGAGGTGCTCCTCACTTCCCAGATGATGGGTGGCCGGGCAG AGGCGCTCCCCATCTCCCAGACGGGGCGGCCAGGCAGAGATGCTCCCCAC TTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTCAGTTCCCAGATGGGG CGGCCGTACAGAAGCGCTCCTCACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02717.hp2 others(5): Show HG02559.hp1 HG02615.hp1 HG02717.hp2 HG02965.hp1 HG03195.hp1 HG03579.hp2 NA19043.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0007 a0002c0004 a0002c0006 a0002c0007	a0002c0004t0001 a0002c0004t0015 a0002c0004t0024 others(4): Show a0002c0004t0001 a0002c0004t0015 a0002c0004t0024 a0002c0004t0039 a0002c0006t0001 a0002c0006t0006 a0002c0007t0003	a0002c0004t0001g0069 a0002c0004t0015g0070 a0002c0004t0024g0051 others(5): Show a0002c0004t0001g0069 a0002c0004t0015g0070 a0002c0004t0024g0051 a0002c0004t0039g0186 a0002c0006t0001g0048 a0002c0006t0001g0100 a0002c0006t0006g0147 a0002c0007t0003g0015	8	188	0.0426	224	c.-74 others(241): Show c.-74-3093_-74-3092insTGTGAGGAGCGCTTCTGTACGGCCGCCC CATCTGGGAACTGAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAAGTG GGGAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTG CCCGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCC CGTCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43416080	C C	CTCCCAGA others(217): Show CTCCCAGACGGGGCAGCCGGGCAGAGGCGCTCCCCACTTCCCAGACGGGG TGGCCGGGCAGAGGTGCTCCTCACTTCCCAGATGATGGGTGGCCGGGCAG AGGCGCTCCCCATCTCCCAGACGGGGCGGCCAGGCAGAGATGCTCCCCAC TTCCCAGATGGGGCGGCCGGGCAGAGGCGCTCCTTAGTTCCCAGATGGGG CGGCCGTACAGAAGCGCTCCTCACA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	188	0.0053	224	c.-74 others(241): Show c.-74-3093_-74-3092insTGTGAGGAGCGCTTCTGTACGGCCGCCC CATCTGGGAACTAAGGAGCGCCTCTGCCCGGCCGCCCCATCTGGGAAGTG GGGAGCATCTCTGCCTGGCCGCCCCGTCTGGGAGATGGGGAGCGCCTCTG CCCGGCCACCCATCATCTGGGAAGTGAGGAGCACCTCTGCCCGGCCACCC CGTCTGGGAAGTGGGGAGCGCCTCTGCCCGGCTGCCCCGTCTGGGA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ESPNL_chr2_238095340_238138287	238098595	C C	CCGCCCAC others(217): Show CCGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGAACGCCCAC ATAGAACCGCCCACATAGGACCGCCCACATGGGAACGCCCACATGGGAAC GCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCCCACAT AGAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAACCGT CCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0003 a0001c0028t0003	a0001c0028t0003g0187 a0001c0028t0003g0187	1	408	0.0025	224	c.-18 others(235): Show c.-1825_-1824insCGCCCACATAGAACCGCCCACATAGGACCGCCCA CATGGGAACGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGAA CGCCCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCCACA TGGGAACGCCCACATAGAACCGCCCACATAGGACCGCCCACATGGGACCG CCCACATAGAACCGTCCACATGGGACCGCCCACATGGGAA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1744		chr2	TogoVar
EVA1C_chr21_32407706_32520387	32477756	G G	GCCCTCAC others(217): Show GCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTAC GCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCC CCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTAC GCCCTCACCTCCCCCGTACGCCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01496.hp1 others(19): Show HG01069.hp2 HG01070.hp1 HG01496.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02129.hp2 HG02886.hp1 HG03492.hp1 HG03834.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18980.hp2 NA18991.hp2 NA18993.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0192 others(19): Show a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0001g0337 a0001c0001t0001g0345 a0001c0002t0001g0003 a0001c0002t0001g0108 a0001c0002t0001g0151 a0001c0002t0001g0157 a0001c0002t0001g0165 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0191 a0001c0002t0001g0221 a0001c0002t0001g0305	22	346	0.0636	224	c.634 others(241): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCC GTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
FAF2_chr5_176443385_176515074	176451819	T T	TATACATA others(217): Show TATACATATATATATACACATATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	372	0.0027	224	c.63+ others(239): Show c.63+3352_63+3353insCATATATATATACACATATATATATACATA TATATATACACATATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATACATATATATATACACATATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM135B_chr8_138125023_138502261	138206677	C C	CCATAACT others(217): Show CCATAACTCTATCATCCCCTCCATCTACGCACAGCTCTATCATCCCCTCT ACCTACACACAACTGTATCATCCCCTCCACCTACACACAATTCCAGCATC CCCTCCACCTACACACAACTCTATCATCCCCTCCACCTACACACAACTCC AGCATCCCCTCCACCTACACACAACTCTATCATCCCCTCCACCTACACAG AACTCCAGCATCCCCTCCACCTACT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02486.hp2 others(9): Show HG01109.hp2 HG02258.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0010	a0001c0003 a0001c0004 a0001c0006 others(5): Show a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0003c0001 a0004c0009 a0005c0011 a0010c0032	a0001c0003t0003 a0001c0004t0011 a0001c0006t0015 others(9): Show a0001c0003t0003 a0001c0004t0011 a0001c0006t0015 a0002c0002t0005 a0002c0002t0009 a0003c0001t0006 a0003c0001t0013 a0003c0001t0019 a0003c0001t0027 a0004c0009t0008 a0005c0011t0016 a0010c0032t0005	a0001c0003t0003g0074 a0001c0004t0011g0119 a0001c0006t0015g0114 others(9): Show a0001c0003t0003g0074 a0001c0004t0011g0119 a0001c0006t0015g0114 a0002c0002t0005g0194 a0002c0002t0009g0164 a0003c0001t0006g0155 a0003c0001t0013g0190 a0003c0001t0019g0138 a0003c0001t0027g0115 a0004c0009t0008g0130 a0005c0011t0016g0144 a0010c0032t0005g0193	12	212	0.0566	224	c.670 others(241): Show c.670-9009_670-9008insAGTAGGTGGAGGGGATGCTGGAGTTCTG TGTAGGTGGAGGGGATGATAGAGTTGTGTGTAGGTGGAGGGGATGCTGGA GTTGTGTGTAGGTGGAGGGGATGATAGAGTTGTGTGTAGGTGGAGGGGAT GCTGGAATTGTGTGTAGGTGGAGGGGATGATACAGTTGTGTGTAGGTAGA GGGGATGATAGAGCTGTGCGTAGATGGAGGGGATGATAGAGTTATG	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	7/19			chr8	TogoVar
FLT4_chr5_180596506_180654600	180634866	A A	ATGGGTGG others(217): Show ATGGGTGGGTGGGTGGGTGGATGGATGCATGGAGGGAAGTATGGGTGGAT GGGTGGGTGGGTGGGAGGATGGATGCATGGATGGATGGAAGTATGGGTGG ATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGATGGAA GTATGGGTGGATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGG AGGGAAGTATGGGTGGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	388	0.0026	224	c.59- others(239): Show c.59-3089_59-3088insCCCACCCATCCACCCATACTTCCCTCCATG CATCCATCCACCCACCCACCCACCCATCCACCCATCCACCCATACTTCCA TCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATCCACC CATACTTCCATCCATCCATGCATCCATCCTCCCACCCACCCACCCATCCA CCCATACTTCCCTCCATGCATCCATCCACCCACCCACCCACCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXP1_chr3_70949708_71588728	71396980	A A	ACACATAT others(217): Show ACACATATATATGTGTATATATATATATACACATATATATGTGTATATAT ATACATATATATGTGTATATATATATATATACACACATATATATGTGTAT ATATATATACATATATATGTGTATATATATATACACATATATATGTGTAT ATATATATACACACATATATATATGTGTATATATATACACATATATATGT GTATATATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04199.hp1 HG01109.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0078 a0001c0001t0048 a0001c0001t0078	a0001c0001t0048g0031 a0001c0001t0078g0028 a0001c0001t0048g0031 a0001c0001t0078g0028	2	96	0.0208	224	c.-16 others(245): Show c.-167-37737_-167-37736insCATATATATGTGTATATATATATA CACATATATATGTGTATATATATACACATATATATATGTGTGTATATATA TATACACATATATATGTGTATATATATATACACATATATATGTATATATA TATACACATATATATGTGTGTATATATATATATATACACATATATATGTA TATATATACACATATATATGTGTATATATATATATACACATATATATGTG	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GABRA3_chrX_152161234_152456315	152275398	G G	GTAAAATA others(217): Show GTAAAATATATATTTACATATTTATTTTAAATATAAAATATATATTTACA TATTTATTTTAAATATAAAATATATATTTACATATTTATTTTAAATATAA AATATATATTTACATATTTATTTTAAATATAAAATATATATTTACATATT TATTTTAAATATAAAATATATATTTACATATTTATTTTAAATATAAAATA TATATTTACATATTTATTTTAAATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	204	0.0049	224	c.330 others(241): Show c.330+9269_330+9270insTATTTAAAATAAATATGTAAATATATAT TTTATATTTAAAATAAATATGTAAATATATATTTTATATTTAAAATAAAT ATGTAAATATATATTTTATATTTAAAATAAATATGTAAATATATATTTTA TATTTAAAATAAATATGTAAATATATATTTTATATTTAAAATAAATATGT AAATATATATTTTATATTTAAAATAAATATGTAAATATATATTTTA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GABRG3_chr15_26966181_27546984	27307363	C C	CCATAGGT others(217): Show CCATAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTTTAT ATATAACCATAGGTTTATATATGTTTATATATAACCATAGGTTTATATAT GTTTATATATAACCATAGGTTTATATATGTTTATATATAACCATAGGTTT ATATATGTTTATATATAAACATATAGGTTTATATATTTATATATAAACAT ATAGGTTTATATATTTATATATAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	92	0.0109	224	c.271 others(243): Show c.271-19442_271-19441insGGTTTATATATGTTTATATATAACCA TAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTTTATATA TAACCATAGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTT TATATATAACCATAGGTTTATATATGTTTATATATAAACATATAGGTTTA TATATTTATATATAAACATATAGGTTTATATATTTATATATAAACATA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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