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
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(275): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0251 a0002c0003t0004g0251	1	424	0.0024	282	c.774 others(297): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(275): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTACGCATACACACACATA TGTGTGTGTATGCATACACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	442	0.0023	282	c.27 others(293): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAC GCATACACACACATATGTGTGTGTATGCATACACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(275): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACA CACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	282	c.27 others(293): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGCATACACACACATATATGTGT GTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881896	C C	CTATATAG others(275): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 NA18967.hp2 HG01978.hp1 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0002 a0001c0002t0001g0013	2	440	0.0046	282	c.12 others(293): Show c.1280_*1281insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATAGATGTATCTATATATCTATATAGA TGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTATC TATATATCTATATAGATTATATATCTATATAGATTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		382		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(275): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG03710.hp1 HG03942.hp1 HG01952.hp1 HG03710.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0002 a0001c0004t0001g0263 a0001c0002t0001g0002 a0001c0004t0001g0263	3	440	0.0068	282	c.12 others(293): Show c.1214_*1215insTATAGATGTATCTATATATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTA TATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882023	T T	TATAGATA others(275): Show TATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	440	0.0023	282	c.11 others(293): Show c.1153_*1154insCTAGATGTATCTATATATCTATCTAGATGTATCT ATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATAT CTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCT AGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGT ATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTAT ATATCTATCTAGATGTATCTATATATCTAGATGTATCTATATATCTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		255		chr13	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(275): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTC CCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	223	0.0045	282	c.-42 others(293): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATATATA others(275): Show AATATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAA TATATATATAAATATATATAAGTATATAAATATATATATAAATATATATA AGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAA TATATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAA TATATATAAATATATATAAGTATATATAAATATATATAAATATATATAAG TATATATAAATATATATAAATATATATAAGTAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0067 a0001c0008t0004g0067	1	264	0.0038	282	c.181 others(301): Show c.1812+3391_1812+3392insATACTTATATATATTTATATATATTT ATATATACTTATATATATTTATATATATTTATATATACTTATATATATTT ATATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATATTTATATACTTAT ATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178585576	C C	CACAGCCC others(275): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGATGCT GGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGC CCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGT AATGCCCTACAGCCCTGGTTGATGCTGGGGGTAACACTCCACGTCCCTGG ATGGCGCTGGGGTAACACTCCACAGCCCTGTATGGCGCTGGGGTAACACT CCACAGCCCTGGTTGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG01934.hp2 others(21): Show HG00639.hp1 HG01167.hp1 HG01934.hp2 HG02257.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0010	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0014 a0003c0005 a0004c0006 a0007c0010 a0010c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(14): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0004t0002 a0002c0002t0009 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0013 a0002c0014t0003 a0003c0005t0002 a0003c0005t0003 a0003c0005t0005 a0004c0006t0003 a0007c0010t0002 a0010c0013t0005	a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0122 others(21): Show a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0005g0113 a0001c0001t0005g0133 a0001c0001t0007g0118 a0001c0004t0002g0120 a0002c0002t0009g0225 a0002c0003t0001g0129 a0002c0003t0002g0121 a0002c0003t0002g0140 a0002c0003t0003g0126 a0002c0003t0005g0115 a0002c0003t0005g0131 a0002c0003t0013g0114 a0002c0014t0003g0124 a0003c0005t0002g0005 a0003c0005t0003g0125 a0003c0005t0005g0208 a0004c0006t0003g0128 a0004c0006t0003g0130 a0007c0010t0002g0117 a0010c0013t0005g0132	24	236	0.1017	282	c.294 others(299): Show c.294+4327_294+4328insAGGGCATTACCCCAGCGCCAACCAGGGC TGTGGAGTGTTACCCCAGCGCCATACAGGGCTGTGGAGTGTTACCCCAGC GCCATCCAGGGACGTGGAGTGTTACCCCCAGCATCAACCAGGGCTGTAGG GCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAA CCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTA CCCCCAGCATCAACCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGG CTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL6A2_chr21_46093112_46134801	46134501	G G	GTCAGGTT others(275): Show GTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGT GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGG GTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGT CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0277 a0001c0002t0002g0277	1	372	0.0027	282	c.50 others(293): Show c.5010_*5011insTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAG GGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTC AGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAG GGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4701		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134501	G G	GTCAGGTT others(275): Show GTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGT GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCA GGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGG GTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGT CAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0273 a0001c0002t0002g0273	1	364	0.0028	282	c.19 others(293): Show c.1949_*1950insTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAG GGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTC AGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTCAG GGTCAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1654		chr21	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(275): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATATATATATATATTTCTATATATATATATAT ATATATTTCTATATATATATATATATTTCTATATATATATATATTTCTAT ATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATAT ATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	370	0.0027	282	c.56 others(293): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATATTTCTATA TATATATATATATATATATTTCTATATATATATATATATATATATATTTC TATATATATATATATATATATTTCTATATATATATATATATTTCTATATA TATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATA TATATATTTCTATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(275): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATATATATATATTTCTATATATATATATATAT ATATTTCTATATATATATATATATATATTTCTATATATATATATATTTCT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	370	0.0027	282	c.56 others(293): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATATATATATATTTCTA TATATATATATATATATATTTCTATATATATATATATATATATTTCTATA TATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(275): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATATATATATTTCTATATATATATATATATAT ATTTCTATATATATATATATATATTTCTATATATATATATATTTCTATAT ATATATATATTTCTATATATATATATTTCTATATATATATATTTCTATAT ATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	370	0.0027	282	c.56 others(293): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATATATATATTTCTATA TATATATATATATATATTTCTATATATATATATATATATTTCTATATATA TATATATTTCTATATATATATATATTTCTATATATATATATTTCTATATA TATATATTTCTATATATATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(275): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGG GGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0029 a0002c0036t0029	a0002c0036t0029g0009 a0002c0036t0029g0009	1	126	0.0079	282	c.416 others(303): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCTCCCCTCTCCCTCCCC TCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCCC TCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CXCL6_chr4_73831678_73843760	73842184	T T	TAATTATA others(275): Show TAATTATACTTCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTTTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	444	0.0023	282	c.45 others(293): Show c.4543_*4544insAATTATACTTCTTTTTTTTTTTTTTTTTGAGACA GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TTTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		3425		chr4	TogoVar
CXorf51A_chrX_146809106_146819744	146812368	C C	CATGTGTA others(275): Show CATGTGTATATACGTATATACACATGTGTATATACGTATATACACATATA TATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTA TATACGTATATACACATATATGTGTACATATATGTGTGTATATGTGTGTA TATACATATATGTGTATATACATATATACACATATATATGTGTGTATATG TGTGTGTATATACATATATGTGTATATACGTATATACACATATATGTGTG TATATATGTGTATATATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA18942.hp1 NA19074.hp2 HG00408.hp1 NA18942.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	264	0.0114	282	c.18 others(293): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACACATATATGTGTATATACGTATATACACATATATGTATATACACACAC ATATACACACATATATATGTGTATATATGTATATACACATATATGTATAT ACACACATATACACACATATATGTACACATATATGTGTATATACGTATAT ACACATATATGTATATACACACACATATACACACATATATGTACACATAT ATATGTGTATATACGTATATACACATGTGTATATACGTATATACACAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1737		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812146	C C	CATGTGTA others(275): Show CATGTGTATATATGTATATATATACACATATATACACACATATATGTGTA TATACGTATATACACATATATGTATATACACACACATATACACACATATA TATGTGTATATATGTATATACACATATATGTATATACACACATATACACA CATATATGTACACATATATGTGTATATACGTATATACACATATATGTATA TACACACACATATACACACATATATGTACACATATATATGTGTATATACG TATATACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18981.hp2 NA19077.hp2 NA18967.hp1 NA18981.hp2 NA19077.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0001 a0007c0007t0001g0001 a0001c0001t0001g0001 a0007c0007t0001g0001	3	272	0.0110	282	c.18 others(293): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACACATATATGTGTATATACGTATATACACATATATGTATATACACACAC ATATACACACATATATATGTGTATATATGTATATACACATATATGTATAT ACACACATATACACACATATATGTACACATATATGTGTATATACGTATAT ACACATATATGTATATACACACACATATACACACATATATGTACACATAT ATATGTGTATATACGTATATACACATGTGTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1736		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812368	C C	CATGTGTA others(275): Show CATGTGTATATACGTATATACACATGTGTATATACGTATATACACATATA TATGTGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTA TATACGTATATACACATATATGTGTACATATATGTGTGTATATGTGTGTA TATACATATATGTGTATATACATATATACACATATATATGTGTGTATATG TGTGTGTATATACATATATGTGTATATACGTATATACACATATATGTGTG TATATATGTGTATATATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18992.hp1 NA19074.hp2 NA18942.hp1 NA18992.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	272	0.0110	282	c.20 others(293): Show c.2060_*2061insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGTAT ATACATATATGTGTATATACGTATATACACATATATGTGTACATATATGT GTGTATATGTGTGTATATACATATATGTGTATATACATATATACACATAT ATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACGTATAT ACACATATATGTGTGTATATATGTGTATATATATACATATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1958		chrX	TogoVar
DCLK2_chr4_150073445_150262438	150251268	C C	CCCACACC others(275): Show CCCACACCCCCCACATCCCCCACACCCCCATCCCCCACACCTCCCACATC CCCACACCACACATCCCCCACATCCCCCACATCCCCCACACCCCCCACAT CCCCCATACCCCTCACATCCCCCACATCCCCCACACCCCCATCCCCCACA TCCCCCACACCCCCATCCCCCACACCTCCCACATCCCCACACCACACATC CCCCACATCCCCCACATCCCCCACACCCCCCACATCCCCCATACCCCTCA CATCCCCCACATCCCCCACACCACACATTCCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0115 a0002c0002t0018g0115	1	116	0.0086	282	c.207 others(301): Show c.2073+1585_2073+1586insCACACCCCCCACATCCCCCACACCCC CATCCCCCACACCTCCCACATCCCCACACCACACATCCCCCACATCCCCC ACATCCCCCACACCCCCCACATCCCCCATACCCCTCACATCCCCCACATC CCCCACACCCCCATCCCCCACATCCCCCACACCCCCATCCCCCACACCTC CCACATCCCCACACCACACATCCCCCACATCCCCCACATCCCCCACACCC CCCACATCCCCCATACCCCTCACATCCCCCACATCCCCCACACCACACAT TCCCTC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132133102	C C	CCTTGGGT others(275): Show CCTTGGGTCAGGGGCGCACTCCTCCAGAACCGGCGCGACGTTCCTCTGAG AGGCCCCCACCCCCGACCCTGGGCTTCTCTCTGCTTATTCAATAAGGCGG GGGAGCCCCCGGGGAGCTGCAGCAGGCAAGCCAGACGCAGGTGGCATACC CCACCCACCGTCTCCCCCTGGGGCTAGACGGGCACAGCTGTGCTCTGGTG AGGCTGCGCCCTCCTCCGCTCCCCCACAGCCGTCCTTACTCCGCGGGTGT GGCCAGTTTTGCTGGCTGTGCCTGCTGCCTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG03130.hp2 HG02809.hp2 HG02896.hp1 HG03130.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0008 a0002c0005t0005g0008	3	334	0.0090	282	c.61 others(293): Show c.6169_*6170insACCAGGCAGCAGGCACAGCCAGCAAAACTGGCCA CACCCGCGGAGTAAGGACGGCTGTGGGGGAGCGGAGGAGGGCGCAGCCTC ACCAGAGCACAGCTGTGCCCGTCTAGCCCCAGGGGGAGACGGTGGGTGGG GTATGCCACCTGCGTCTGGCTTGCCTGCTGCAGCTCCCCGGGGGCTCCCC CGCCTTATTGAATAAGCAGAGAGAAGCCCAGGGTCGGGGGTGGGGGCCTC TCAGAGGAACGTCGCGCCGGTTCTGGAGGAGTGCGCCCCTGACCCAAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		3491		chr12	TogoVar
DDX51_chr12_132131594_132149319	132133102	C C	CCTTGGGT others(275): Show CCTTGGGTCAGGGGCGCACTCCTCCAGAACCGGCGCGACGTTCCTCTGAG AGGCCCCCACCCCCGACCCTGGGCTTCTCTCTGCTTATTCAATAAGGCGG GGGAGCGCCCGGGGAGCTGCAGCAGGCAAGCCAGACGCAGGTGGCATACC CCACCCACCGTCTCCCCCTGGGGCTAGACGGGCACAGCTGTGCTCTGGTG AGGCTGCGCCCTCCTCCGCTCCCCCACAGCCGTCCTTACTCCGCGGGTGT GGCCAGTTTTGCTGGCTGTGCCTGCTGCCTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG03225.hp2 HG01891.hp1 HG03041.hp1 HG03225.hp2	a0002 a0017 a0002 a0017	a0002c0018 a0017c0031 a0002c0018 a0017c0031	a0002c0018t0018 a0017c0031t0040 a0002c0018t0018 a0017c0031t0040	a0002c0018t0018g0027 a0017c0031t0040g0086 a0002c0018t0018g0027 a0017c0031t0040g0086	3	334	0.0090	282	c.61 others(293): Show c.6169_*6170insACCAGGCAGCAGGCACAGCCAGCAAAACTGGCCA CACCCGCGGAGTAAGGACGGCTGTGGGGGAGCGGAGGAGGGCGCAGCCTC ACCAGAGCACAGCTGTGCCCGTCTAGCCCCAGGGGGAGACGGTGGGTGGG GTATGCCACCTGCGTCTGGCTTGCCTGCTGCAGCTCCCCGGGCGCTCCCC CGCCTTATTGAATAAGCAGAGAGAAGCCCAGGGTCGGGGGTGGGGGCCTC TCAGAGGAACGTCGCGCCGGTTCTGGAGGAGTGCGCCCCTGACCCAAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		3491		chr12	TogoVar
DDX51_chr12_132131594_132149319	132133102	C C	CCTTGGGT others(275): Show CCTTGGGTCAGGGGCGCACTCCTCCAGAACCGGCGCGACGTTCCTCTGAG AGGCCCCCACCCCCGACCCTGGGCTTCTCTCTGCTTATTCAATAAGGTGG GGGAGCGCCCGGGGAGCTGCAGCAGGCAAGCCAGACGCAGGTGGCATACC CCACCCACCGTCTCCCCCTGGGGCTAGACGGGCACAGCTGTGCTCTGGTG AGGCTGCGCCCTCCTCCGCTCCCCCACAGCCGTCCTTACTCCGCGGGTGT GGCCAGTTTTGCTGGCTGTGCCTGCTGCCTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA18940.hp1 NA18959.hp2 others(1): Show HG02602.hp2 NA18940.hp1 NA18959.hp2 NA19002.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0009c0013 a0002c0005 a0009c0013	a0002c0005t0005 a0009c0013t0005 a0002c0005t0005 a0009c0013t0005	a0002c0005t0005g0090 a0009c0013t0005g0033 a0009c0013t0005g0087 a0002c0005t0005g0090 a0009c0013t0005g0033 a0009c0013t0005g0087	4	334	0.0120	282	c.61 others(293): Show c.6169_*6170insACCAGGCAGCAGGCACAGCCAGCAAAACTGGCCA CACCCGCGGAGTAAGGACGGCTGTGGGGGAGCGGAGGAGGGCGCAGCCTC ACCAGAGCACAGCTGTGCCCGTCTAGCCCCAGGGGGAGACGGTGGGTGGG GTATGCCACCTGCGTCTGGCTTGCCTGCTGCAGCTCCCCGGGCGCTCCCC CACCTTATTGAATAAGCAGAGAGAAGCCCAGGGTCGGGGGTGGGGGCCTC TCAGAGGAACGTCGCGCCGGTTCTGGAGGAGTGCGCCCCTGACCCAAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		3491		chr12	TogoVar
DDX51_chr12_132131594_132149319	132133102	C C	CCTTGGGT others(275): Show CCTTGGGTCAGGGGCGCACTCCTCCAGAACCGGCGCGACGTTCCTCTGAG AGGCCCCCACCCCCGACCCTGGGCTTCTCTCTGCTTATTCAATAAGGTGG GGGAGCGCCCGGGGAGCTGCAGCAGGCAAGCCAGACGCAGGTGGCATACC CCACCCACTGTCTCCCCCTGGGGCTAGACGGGCACAGCTGTGCTCTGGTG AGGCTGCGCCCTCCTCCGCTCCCCCACAGCCGTCCTTACTCCGCGGGTGT GGCCAGTTTTGCTGGCTGTGCCTGCTGCCTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01167.hp2 others(3): Show HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01433.hp1 HG01952.hp1 HG01978.hp1	a0002 a0002	a0002c0005 a0002c0032 a0002c0005 a0002c0032	a0002c0005t0005 a0002c0032t0005 a0002c0005t0005 a0002c0032t0005	a0002c0005t0005g0008 a0002c0005t0005g0091 a0002c0032t0005g0092 a0002c0005t0005g0008 a0002c0005t0005g0091 a0002c0032t0005g0092	6	334	0.0180	282	c.61 others(293): Show c.6169_*6170insACCAGGCAGCAGGCACAGCCAGCAAAACTGGCCA CACCCGCGGAGTAAGGACGGCTGTGGGGGAGCGGAGGAGGGCGCAGCCTC ACCAGAGCACAGCTGTGCCCGTCTAGCCCCAGGGGGAGACAGTGGGTGGG GTATGCCACCTGCGTCTGGCTTGCCTGCTGCAGCTCCCCGGGCGCTCCCC CACCTTATTGAATAAGCAGAGAGAAGCCCAGGGTCGGGGGTGGGGGCCTC TCAGAGGAACGTCGCGCCGGTTCTGGAGGAGTGCGCCCCTGACCCAAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		3491		chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(275): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	282	c.-42 others(293): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DEPDC1B_chr5_60591912_60705166	60668137	T T	TTATATAT others(275): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATATAAAATGGATATTTTATATATATATAAAATG GATATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	292	0.0034	282	c.314 others(301): Show c.314+18824_314+18825insTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATATA AAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATA TATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC1B_chr5_60591912_60705166	60668159	T T	TTTTATAT others(275): Show TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAA TGGATATTTTATATATATATAAAATGGATATTTTATATATATATAAAATG GATATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	292	0.0034	282	c.314 others(301): Show c.314+18802_314+18803insTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATAAA ATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATATA AAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATAAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKD_chr2_233349494_233477098	233397135	A A	ACCAGAGG others(275): Show ACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCC AGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGA GGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGG GACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGAC CAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAG GGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18959.hp1 NA18612.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0065 a0001c0001t0017g0071 a0001c0001t0002g0065 a0001c0001t0017g0071	2	336	0.0060	282	c.348 others(299): Show c.348+6689_348+6690insCGAGAGGACTCCAGAGGGGACCAGGGTG GCTGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCT GCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCG GGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGG GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGG GCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCC AGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKQ_chr4_953887_978569	968257	A A	ACCCCCTC others(275): Show ACCCCCTCCACCTCCCAGCACCCACCCAACCCCGCACCTCTCCTGCCCCA CCCCCACCCCCTCCACCTCCCAGCGCCCCCCTGGACCCCGTGCCTCTCCT GCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCACCCAACCCCGCAC CTCTCCTGCCCCACCCCCACCCCCTCCACCTCCCAGCGCCCCCCTGGACC CCGTGCCTCTCCTGCCCCGCCCCCCCAACTCCTCCACCTCCCAGCACCCA CCCAACCCCGCACCTCTCCTGCCCCACCCCCAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0141 a0002c0003t0003g0141	1	438	0.0023	282	c.663 others(295): Show c.663+24_663+25insGTGGGGGTGGGGCAGGAGAGGTGCGGGGTTGG GTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGGCAGGAGAGGCACG GGGTCCAGGGGGGCGCTGGGAGGTGGAGGGGGTGGGGGTGGGGCAGGAGA GGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGAGTTGGGGGGGCGGGG CAGGAGAGGCACGGGGTCCAGGGGGGCGCTGGGAGGTGGAGGGGGTGGGG GTGGGGCAGGAGAGGTGCGGGGTTGGGTGGGTGCTGGGAGGTGGAGGGGG	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	5/22			chr4	TogoVar
DIP2C_chr10_269201_694668	516565	A A	ACAGGGGG others(275): Show ACAGGGGGTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGAGGGGGGGAC GGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGG GTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGG TGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGG GGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACA CGGGGTAGGGTGGGGGGGGACACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	88	0.0114	282	c.86- others(299): Show c.86-30036_86-30035insACCCTACCCCGTGTCCCCCCCCACCCTA CCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCT GTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCC CCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCAC CCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCTCCCACCCT ACCCCGTCCCCCCCTCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCC CCTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1450226	G G	GGAGCTGT others(275): Show GGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGA GCTGTGAGGGTGAAGACGAGGTGGGCGGTCTCGGTGGCTGAGGCTGAGCT GTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTG AGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGG GTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTG AAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	40	0.0250	282	c.107 others(301): Show c.107-51094_107-51093insTGAGCTGTGAGGGTGAAGACGAGGTG GGCGGTCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGC GGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGC CTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTC GGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGT GGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGC TGAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450442	C C	CGGCCTCC others(275): Show CGGCCTCCGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCT CGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGTCTCGG TGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGG CTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTG AGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0037 a0004c0005t0004g0037	1	40	0.0250	282	c.107 others(301): Show c.107-50918_107-50917insCGTGGCTGAGGCGGAGCTGTGAGGGT GAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAA GACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGAC GAGGTGGGCGGTCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAG GTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTG GGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGT GGCCTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(275): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATATCCCATATATATG ATATATATATGATATATATATGATATATATATCCCATATATATGATATAT ATATGATATATATGATATATATGGGATATATATATCATATATATATCATA TATATGGGATATATATATCATATATATCATATATATGGGATATATATATC ATATATATCATATATATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	336	0.0030	282	c.22- others(299): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATATGATATATATATCCCATATATATCATATATAT CATATATATATCATATATATGGGATATATATATCATATATATATCATATA TATATCATATATATGGGATATATATATCATATATATATCATATATATGGG ATATATATATCATATATATATCATATATATGGGATATATATATCATATAT ATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(275): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATATGATATATATATC CCATATATATGATATATATATGATATATATGATATATATGGGATATATAT ATCATATATATATCCCATATATATGGGATATATATATCATATATATCATA TATATGGGATATATATATCATATATATCATATATATGGGATATATATATC ATATATATCATATATATGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19085.hp2 NA18968.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0164 a0001c0001t0001g0033 a0001c0001t0001g0164	2	336	0.0060	282	c.22- others(299): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATGATATATATATCCCATATATATGGGATATATAT ATGATATATATATCCCATATATATCATATATATCATATATATATCATATA TATGGGATATATATATCATATATATATCATATATATATCATATATATGGG ATATATATATCATATATATATCATATATATGGGATATATATATCATATAT ATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK8_chr9_209865_470255	400620	C C	CCACCACC others(275): Show CCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACC ACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCAC CTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCAC CAGCACTTCCACCATCACCACCTCCTTCACCAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0003 a0009c0015t0003	a0009c0015t0003g0118 a0009c0015t0003g0118	1	256	0.0039	282	c.323 others(301): Show c.3234+1366_3234+1367insCCACCTCCACCATCACCACCACCTCC ACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCAC CATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA GCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCA TCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400981	C C	CACCATCA others(275): Show CACCATCACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTCCA CCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCATC ACCTCCACCACCATCACCTCCACCACCACCACCTCCTCCACCACCACCAC CTCCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTCTCCA CCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAAT ATTATCACCTTTCCTATCACCTCCAATATCACT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0033 a0001c0036t0001g0033	1	256	0.0039	282	c.323 others(301): Show c.3234+1725_3234+1726insATCACCTCCACCACCACCACCACCTC CACCATCACCACCTCCTCCACCATCACCACCACCTCCACCATCACCACCT CCTCCACCATCACCACCATCACCTCCACCACCATCACCTCCACCACCACC ACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCAC CACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCATCG CCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATC ACTACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634545	C C	CCCTTCCT others(275): Show CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTT CCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	250	0.0040	282	c.105 others(299): Show c.105-1361_105-1360insTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCT TTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634611	C C	CCCTTCCT others(275): Show CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCCTTTCCCTTCCTTCCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02976.hp2 HG02109.hp1 HG02109.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0235 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0235	3	250	0.0120	282	c.105 others(299): Show c.105-1295_105-1294insTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTTCCCTTC CTTCCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTTCCTTCCCT TTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DSC1_chr18_31124236_31167856	31150373	C C	CATCAGCA others(275): Show CATCAGCAGCAGCACCATCATCATCACCACACTACCATCACCACCATCAC CACCATTATCATCACTGCTACCACTATTACCATCACCACTACCATCACCA CCACCACCACCATCATCATCATCACCAGCATCATCATCAGCACCATCATC ATCAACACACTATCATCACCACGATCACCACCATTATCATCACCACTACC GCTATTACCATCACCACTAACACCATCACCACCACCATCATCACCACCAC CATCACCAGCAGCACTATCATCATCACCACACT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG02922.hp1 HG02451.hp1 HG02615.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0013 a0001c0033t0009 a0001c0001t0013 a0001c0033t0009	a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0033t0009g0316 a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0033t0009g0316	3	378	0.0079	282	c.628 others(299): Show c.628-1732_628-1731insAGTGTGGTGATGATGATAGTGCTGCTGG TGATGGTGGTGGTGATGATGGTGGTGGTGATGGTGTTAGTGGTGATGGTA ATAGCGGTAGTGGTGATGATAATGGTGGTGATCGTGGTGATGATAGTGTG TTGATGATGATGGTGCTGATGATGATGCTGGTGATGATGATGATGGTGGT GGTGGTGGTGATGGTAGTGGTGATGGTAATAGTGGTAGCAGTGATGATAA TGGTGGTGATGGTGGTGATGGTAGTGTGGTGATGATGATGGTGCTGCTGC TGAT	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31150373	C C	CATCAGCA others(275): Show CATCAGCAGCAGCACCATCATCATCACCACACTACCATCACCACCATCAC CACCATTATCATCACTGCTACCACTATTACCATCACCACTACCATCACCA CCACCACCACCATCATCATCATCACCAGCATCATCATCAGCACCATCATC ATCACCACACTATCATCACCACGATCACCACCATTATCATCACCACTACC ACTATTACCATCACCACTAACACCATCACCACCACCATCATCACCACCAC CATCACCAGCAGCACTATCATCATCACCACACT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0037 a0001c0003t0015g0037	1	378	0.0027	282	c.628 others(299): Show c.628-1732_628-1731insAGTGTGGTGATGATGATAGTGCTGCTGG TGATGGTGGTGGTGATGATGGTGGTGGTGATGGTGTTAGTGGTGATGGTA ATAGTGGTAGTGGTGATGATAATGGTGGTGATCGTGGTGATGATAGTGTG GTGATGATGATGGTGCTGATGATGATGCTGGTGATGATGATGATGGTGGT GGTGGTGGTGATGGTAGTGGTGATGGTAATAGTGGTAGCAGTGATGATAA TGGTGGTGATGGTGGTGATGGTAGTGTGGTGATGATGATGGTGCTGCTGC TGAT	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31150373	C C	CATCAGCA others(275): Show CATCAGCAGCAGCACCATCATCATCACCACACTACCATCACCACCATCAC CACCATTATCATCACTGCTACCACTATTACCATCACCACTACCATCACCA CCACCACCACCATCATCATCATCACCAGCATCATCATCAGCACCATCATC ATCACCACACTATCATCACCACGATCACCACCATTATCATCACCACTACC GCTATTACCATCACCACTAACACCATCACCACCACCATCATCACCACCAC CATCACCAGCAGCACTATCATCATCACCACACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(91): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18955.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18972.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA19004.hp2 NA19006.hp1 NA19065.hp1 NA19070.hp2 NA19077.hp2 NA19082.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0001c0003 a0001c0027 others(9): Show a0001c0001 a0001c0003 a0001c0027 a0002c0005 a0002c0006 a0003c0007 a0003c0019 a0004c0012 a0005c0010 a0005c0028 a0007c0022 a0009c0034	a0001c0001t0002 a0001c0001t0018 a0001c0003t0002 others(14): Show a0001c0001t0002 a0001c0001t0018 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0027t0001 a0002c0005t0001 a0002c0006t0001 a0003c0007t0006 a0003c0007t0019 a0003c0019t0020 a0004c0012t0011 a0005c0010t0001 a0005c0010t0002 a0005c0028t0002 a0007c0022t0003 a0009c0034t0009	a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0001t0002g0266 others(81): Show a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0018g0308 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0029 a0001c0003t0002g0032 a0001c0003t0002g0148 a0001c0003t0002g0150 a0001c0003t0002g0195 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0241 a0001c0003t0002g0246 a0001c0003t0002g0250 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0003g0007 a0001c0003t0003g0028 a0001c0003t0003g0166 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0197 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0244 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0007g0007 a0001c0003t0007g0245 a0001c0027t0001g0149 a0002c0005t0001g0269 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0272 a0002c0005t0001g0275 a0002c0005t0001g0277 a0002c0005t0001g0286 a0002c0005t0001g0287 a0002c0006t0001g0116 a0002c0006t0001g0252 a0003c0007t0006g0309 a0003c0007t0006g0310 a0003c0007t0006g0314 a0003c0007t0006g0315 a0003c0007t0019g0320 a0003c0019t0020g0313 a0004c0012t0011g0035 a0004c0012t0011g0311 a0005c0010t0001g0295 a0005c0010t0002g0298 a0005c0028t0002g0156 a0007c0022t0003g0256 a0007c0022t0003g0263 a0009c0034t0009g0312	94	378	0.2487	282	c.628 others(299): Show c.628-1732_628-1731insAGTGTGGTGATGATGATAGTGCTGCTGG TGATGGTGGTGGTGATGATGGTGGTGGTGATGGTGTTAGTGGTGATGGTA ATAGCGGTAGTGGTGATGATAATGGTGGTGATCGTGGTGATGATAGTGTG GTGATGATGATGGTGCTGATGATGATGCTGGTGATGATGATGATGGTGGT GGTGGTGGTGATGGTAGTGGTGATGGTAATAGTGGTAGCAGTGATGATAA TGGTGGTGATGGTGGTGATGGTAGTGTGGTGATGATGATGGTGCTGCTGC TGAT	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31150373	C C	CATCAGCA others(275): Show CATCAGCAGCAGCACCATCATCATCACCACACTACCATCACCACCATCAC CACCATTATCATCACTGCTACCACTATTACCATCACCACTACCATCACCA CCACCACCACCATCATCATCATCACCAGCATCATCATCAGCACCATCATC ATCACCACACTATCATCACCATGATCACCACCATTATCATCACCACTACC GCTATTACCATCACCACTAACACCATCACCACCACCATCATCACCACCAC CATCACCAGCAGCACTATCATCATCACCACACT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02818.hp2 HG03540.hp1 HG02809.hp1 HG02818.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0196 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0196 a0001c0003t0002g0242 a0001c0003t0002g0243	3	378	0.0079	282	c.628 others(299): Show c.628-1732_628-1731insAGTGTGGTGATGATGATAGTGCTGCTGG TGATGGTGGTGGTGATGATGGTGGTGGTGATGGTGTTAGTGGTGATGGTA ATAGCGGTAGTGGTGATGATAATGGTGGTGATCATGGTGATGATAGTGTG GTGATGATGATGGTGCTGATGATGATGCTGGTGATGATGATGATGGTGGT GGTGGTGGTGATGGTAGTGGTGATGGTAATAGTGGTAGCAGTGATGATAA TGGTGGTGATGGTGGTGATGGTAGTGTGGTGATGATGATGGTGCTGCTGC TGAT	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31150373	C C	CATCAGCA others(275): Show CATCAGCAGCAGCACCATCATCATCACCACACTACCATCACCACCATCAC CACCATTATCATCACTGCTACCACTATTACCATCACCATTACCATCACCA CCACCACCACCATCATCATCATCACCAGCATCATCATCAGCACCATCATC ATCACCACACTATCATCACCACGATCACCACCATTATCATCACCACTACC GCTATTACCATCACCACTAACACCATCACCACCACCATCATCACCACCAC CATCACCAGCAGCACTATCATCATCACCACACT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	378	0.0027	282	c.628 others(299): Show c.628-1732_628-1731insAGTGTGGTGATGATGATAGTGCTGCTGG TGATGGTGGTGGTGATGATGGTGGTGGTGATGGTGTTAGTGGTGATGGTA ATAGCGGTAGTGGTGATGATAATGGTGGTGATCGTGGTGATGATAGTGTG GTGATGATGATGGTGCTGATGATGATGCTGGTGATGATGATGATGGTGGT GGTGGTGGTGATGGTAATGGTGATGGTAATAGTGGTAGCAGTGATGATAA TGGTGGTGATGGTGGTGATGGTAGTGTGGTGATGATGATGGTGCTGCTGC TGAT	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCACCCC others(275): Show CCCACCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0069 a0005c0005t0001g0069	1	356	0.0028	282	c.-24 others(299): Show c.-248+505_-248+506insACCCCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47325026	C C	CCCCCCCC others(275): Show CCCCCCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	356	0.0028	282	c.-24 others(299): Show c.-248+507_-248+508insCCCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCC	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EHMT1_chr9_137614005_137841127	137716305	G G	GTTGGTGT others(275): Show GTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	170	0.0059	282	c.86- others(295): Show c.86-321_86-320insTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
EHMT1_chr9_137614005_137841127	137809865	T T	TGTGGACC others(275): Show TGTGGACCGTAGGTGATGGGTCCCGAGGCGGTTCCGATGCTGCCCCTCGT GGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGTGTGGA CCGTCGGTGATGGGTCCGGAGGTGGTTCCGATGCCGCCCCGCGTGGACTG TCGGTGATGGGTCTGGAGGCGGTTCCGATGCCGCCCCGTGTGGACCGTGG GTGATGGGTCCGGAGGCGGTTCCGATGCTGCCCCGTGTGGACCGTGGGTG ATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG02886.hp1 HG02970.hp1	a0001 a0011 a0001 a0011	a0001c0003 a0011c0031 a0001c0003 a0011c0031	a0001c0003t0001 a0011c0031t0001 a0001c0003t0001 a0011c0031t0001	a0001c0003t0001g0067 a0011c0031t0001g0167 a0001c0003t0001g0067 a0011c0031t0001g0167	2	170	0.0118	282	c.271 others(301): Show c.2713-1587_2713-1586insAGGTGATGGGTCCCGAGGCGGTTCCG ATGCTGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATG CCGCCCCGTGTGGACCGTCGGTGATGGGTCCGGAGGTGGTTCCGATGCCG CCCCGCGTGGACTGTCGGTGATGGGTCTGGAGGCGGTTCCGATGCCGCCC CGTGTGGACCGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCTGCCCCGT GTGGACCGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTG GACCGT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(275): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00733.hp2 others(18): Show HG00280.hp1 HG00733.hp1 HG00733.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01346.hp1 HG01884.hp2 HG02723.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03834.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18959.hp1 NA19010.hp2 NA19056.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0175 a0001c0001t0001g0182 others(18): Show a0001c0001t0001g0112 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257	21	346	0.0607	282	c.-76 others(299): Show c.-76-2985_-76-2704dupGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM171A1_chr10_15206643_15376289	15229915	T T	TCACCATC others(275): Show TCACCATCATCATCATCATCACCATCACCATCATCACCATCATCACCATC ACCCCCATCACCATCATCACCATCACCACCATCACCATCATCACCATCAC CACCATCACCATCATCATCATCATCACCATCACCCCCATCACCATCATCA CCATCACCACCATCACCCCCATCACCATCATCACCATCACCACCATCACC ATCATCATCATCACCACCATCACCATCATCACCATCACCCCCATCACCAT CATCACCATCACCACCATCACCATCATCACCAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0120 a0001c0001t0008g0120	1	303	0.0033	282	c.755 others(299): Show c.755-8856_755-8855insGTGGTGATGATGGTGATGGTGGTGATGG TGATGATGGTGATGGGGGTGATGGTGATGATGGTGATGGTGGTGATGATG ATGATGGTGATGGTGGTGATGGTGATGATGGTGATGGGGGTGATGGTGGT GATGGTGATGATGGTGATGGGGGTGATGGTGATGATGATGATGATGGTGA TGGTGGTGATGGTGATGATGGTGATGGTGGTGATGGTGATGATGGTGATG GGGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGATGATGAT GGTG	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FAM3B_chr21_41311801_41362727	41313428	A A	AATTTGAT others(275): Show AATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCAT TTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTG ATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATC CATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCAT TCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCT TGAACCTCATCATACAGTATGTATGCATGTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02155.hp2 HG00673.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0263 a0001c0002t0001g0264	2	314	0.0064	282	c.-34 others(293): Show c.-3452_-3451insATTTGATCCATTCTTGAACCTCATCATACAGTAT GTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTA TGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGC ATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATG TCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCG CATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3372		chr21	TogoVar

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