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
TMPRSS9_chr19_2355265_2431261	2377592	C C	CCTCTCCC others(385): Show CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCTCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTTCCCCTTCT CTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCC TCCCCTCTCCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCTCTCCCCTCCC CTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCT CTCCCCTCCCCTCCCATCCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCC CTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCC TCCCCTCCCCTCTCCCTTCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0051 a0021c0019t0001g0051	1	46	0.0217	392	c.-25 others(411): Show c.-25-12169_-25-12168insCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTTCCCCTTCTCTCTCTCCTCCCCTCCTCTCTCTTCCC CTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCCTCCCCTCTCCCCTCTC CTCTCTCCTCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTC CCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCCCCCTCTCA TCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCC CTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCTTCCTCCCCTC CCCTCCCCCTCCCCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(385): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCCCTCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCT CTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTC CCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCT CGCCCTTCCCCTTCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCT CCCCTCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCT TCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTC CCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0002 a0018c0017t0002	a0018c0017t0002g0011 a0018c0017t0002g0011	1	46	0.0217	392	c.-25 others(411): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCT CCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTC TCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTTCCCTCGCCCTTCCCCT CTTCCCTCCCCTCTCCCCTCTCCCCTCCCTCCCATCTCCCCTCTCATCTC CCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCC CTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(385): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCCTCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTC TCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCC CCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTC GCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTC CCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCT TCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTC CCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18612.hp2 NA18971.hp1 others(1): Show HG00099.hp1 NA18612.hp2 NA18971.hp1 NA18971.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0008c0007t0003 a0002c0002t0001 a0008c0007t0003	a0002c0002t0001g0019 a0002c0002t0001g0078 a0002c0002t0001g0100 others(1): Show a0002c0002t0001g0019 a0002c0002t0001g0078 a0002c0002t0001g0100 a0008c0007t0003g0018	4	49	0.0816	392	c.-25 others(411): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTC CTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCT CCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTC TTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTC CCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCC CCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCC CTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOLLIP_chr11_1269371_1314632	1287409	G G	GCCTCCCC others(385): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	319	0.0031	392	c.519 others(409): Show c.519+1214_519+1215insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287591	G G	GCCTCCCC others(385): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0184 a0001c0002t0007g0184	1	287	0.0035	392	c.519 others(409): Show c.519+1032_519+1033insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287686	G G	GCACCCTC others(385): Show GCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGC AGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAG CCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCC TCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCC GCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	344	0.0029	392	c.519 others(407): Show c.519+937_519+938insGGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAG GGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGC GGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGG TGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG GGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTG CGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGG AGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCG GCGGGGAGGGTG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGTTAGG others(385): Show GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGT TAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAAGGAGGCCGGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	392	c.47 others(403): Show c.4712_*4713insGGCCTCCCTAACCCCGGCCTCCTTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGC CTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCC TAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(385): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCTC ATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGGC CCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTT CTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTC CTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGC CCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(57): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG01070.hp2 HG01099.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp1 HG01884.hp2 HG01928.hp1 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02145.hp1 HG02273.hp1 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG03041.hp1 HG03098.hp1 HG03492.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18962.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19012.hp2 NA19043.hp1 NA19067.hp1 NA19085.hp1 NA19091.hp1 NA20805.hp1 NA20805.hp2	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0001 a0001c0008 a0009c0016 others(1): Show a0001c0001 a0001c0008 a0009c0016 a0011c0017	a0001c0001t0001 a0001c0001t0019 a0001c0001t0021 others(9): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0056 a0001c0008t0001 a0009c0016t0094 a0011c0017t0001	a0001c0001t0001g0001 a0001c0001t0019g0001 a0001c0001t0021g0001 others(9): Show a0001c0001t0001g0001 a0001c0001t0019g0001 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0023g0001 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0001 a0001c0001t0056g0001 a0001c0008t0001g0001 a0009c0016t0094g0001 a0011c0017t0001g0011	60	218	0.2752	392	c.31 others(401): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTG AGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(385): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCTC ATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGGC CCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTT CTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTC CTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGC TCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0001 a0001c0001t0095g0001	1	159	0.0063	392	c.31 others(401): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCTCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTG AGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(385): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCTC ATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGGC CCCCTCCCGTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTT CTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTC CTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGC CCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18967.hp1 NA18979.hp1 others(1): Show NA18945.hp2 NA18967.hp1 NA18979.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	4	162	0.0247	392	c.31 others(401): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCGTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTG AGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCTCC others(385): Show CCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTGCTCCAT CCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCTC ATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCCTGGGC CCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTTT CTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGTCCCTC CTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCCTCAGC CCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTC TTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG03490.hp2 HG03492.hp1 HG00597.hp2 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069	a0001c0001t0067g0001 a0001c0001t0068g0001 a0001c0001t0069g0001 a0001c0001t0067g0001 a0001c0001t0068g0001 a0001c0001t0069g0001	3	161	0.0186	392	c.31 others(401): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC CCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCC TTCCCCTTTCTTGAGTCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTG AGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRAF6_chr11_36478769_36515272	36507129	C C	CATACGTA others(385): Show CATACGTAAATGTATGTATGTATATATACATTATACATACGTAAATGTAT GTATGTATATATACATTATACATACGTAAATGTATGTATGTATATATACA TTATACATACGTAAATGTATGTATGTATATATACATTATACATACGTAAA TGTATGTATGTATATATACATTATACATACGTAAATGTATGTATGTATAT ATACATTATACATACGTAAATGTATGTATGTATATATACATTATACATAC GTAAATGTATGTATGTATATATACATTATACATACGTAAATGTATGTATG TATATATACATTATACATACGTAAATGTATATATATATACATTATACATA CGTAAATGTATATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0279 a0001c0001t0019g0279	1	369	0.0027	392	c.-23 others(409): Show c.-23+2918_-23+2919insAATACATTTACGTATGTATAATGTATAT ATATATACATTTACGTATGTATAATGTATATATATATACATTTACGTATG TATAATGTATATATACATACATACATTTACGTATGTATAATGTATATATA CATACATACATTTACGTATGTATAATGTATATATACATACATACATTTAC GTATGTATAATGTATATATACATACATACATTTACGTATGTATAATGTAT ATATACATACATACATTTACGTATGTATAATGTATATATACATACATACA TTTACGTATGTATAATGTATATATACATACATACATTTACGTATGTATAA TGTATATATACATACATACATTTACGTATGTATAATGTATATATACATAC ATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(385): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTATGTATGTGTAT ATATGTATACATGTATATATGTATACATACACGCGCGTGTATATATGTAT ACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	181	0.0055	392	c.-23 others(409): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATATA TACATGTATACATATATACACATACATACATGTGTACACATGTATACGTA TACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TATACGTATATACATGTGTACACATGTAGATACACGTATATATACATATA TACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM2_chr4_153199443_153344317	153222046	A A	AAGGGAGG others(385): Show AAGGGAGGAAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAG GAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGG AGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGA GGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGA GGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAG GAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAG GGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAGG GAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	261	0.0038	392	c.30+ others(409): Show c.30+17493_30+17494insAAGGAAGGAGAGAGGGAGCGAGGGAGGA AGGAAGGAAGGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAG GAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAG GAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGG GAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGG AAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGG AAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGA AGGAAGGAGGGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGA GCGAGGGAGGGAGG	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM2_chr4_153199443_153344317	153222058	A A	AAGGAAGG others(385): Show AAGGAAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGG AAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGA AGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAA GGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAG GAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGG GAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAAG GAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGG AAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	87	0.0115	392	c.30+ others(409): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGG AGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGG AGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAA GGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAG GGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAG GGAGGGAGGAAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRIM2_chr4_153199443_153344317	153222062	A A	AAGGAGAG others(385): Show AAGGAGAGAGGGAGCGAGGGAGGAAGGAAGGAAGGAAGGAGGAAGGAAGG AAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGA GGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAA GGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAG GAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGG GAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGAAGGAAG GAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAGGGAGGGAGCGAGAGAGG AAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0068 a0001c0001t0027g0068	1	266	0.0038	392	c.30+ others(409): Show c.30+17506_30+17507insGAGAGGGAGCGAGGGAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGCAAGGAAGGGAGGGAGGAAGGAAGG GAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAAGG AGGGAGGGAGGGAGGAAGGAAGGAAAGAGGAAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAAGGAGGAAGGAAGGA GGGAGGGAGGAAGGAAGGAAGGAGGAAGGAAGGAAGGAGGAAGGAAGGAG GGAGGGAGCGAGAGAGGAAGGAAGGGAGGGAGAAAAGAAGAGCGAGGGAG GGAGGGAGGGAGGA	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRPC6_chr11_101446564_101589007	101558386	C C	CATGTATA others(385): Show CATGTATACGGGTATACATGTATATATGTATACATGTATACGGGTATACA TGTATATATGTATACATGTATACGGGTATACATGTATATATGTATACATG TATACGGGTATACATGTATATATGTATACATGTATACGGGTATACATGTA TATATGTATACATGTATACGGGTATACATGTATATATGTATACATGTATA CGGGTATACATGTATACATGTATACATGTATATGGGTATACATGTATACA TGTATACATGTATATGGGTATACATGTATACATGTATACATGTATATGGG TATACATGTATACATGTATATGGGTATACATGTATACATGTATATGGGTA TACATGTATACATGTATACATGTATATGGGTATACATGTATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0231 a0001c0001t0006g0231	1	152	0.0066	392	c.170 others(411): Show c.170+24947_170+24948insATATACATGTATACCCATATACATGT ATACATGTATACATGTATACCCATATACATGTATACATGTATACCCATAT ACATGTATACATGTATACCCATATACATGTATACATGTATACATGTATAC CCATATACATGTATACATGTATACATGTATACCCATATACATGTATACAT GTATACATGTATACCCGTATACATGTATACATATATACATGTATACCCGT ATACATGTATACATATATACATGTATACCCGTATACATGTATACATATAT ACATGTATACCCGTATACATGTATACATATATACATGTATACCCGTATAC ATGTATACATATATACATGTATACCCGTATACATGTATACATATATACAT GTATACCCGTATACAT	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TSNARE1_chr8_142207080_142408182	142255725	C C	CCACCACC others(385): Show CCACCACCACCACCACTGTCACCATCACCACCACCATCACCATCACCATC ACCACCATCACCACCACCACCACTGTCACCATCACCACCACCATCACCAT CACCACCACTGTCACCATCACCACCACCACCACTGTCACCACCACCACCA CCACCATCATCACCATCACCACCACCATCACCATCACCACCACCACCACT GTCACCACCACCACCACCACCACCATCACATCACCACCATCATCACCATC ACCACCACCATCACCATCACCACCACCATCACCGTCACCATCACCACCAC CATCACCATCACCACCACTGTCACCATCACCACCACCACCACTGTCACCA CCACCACCACCACCATCATCACCATCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19074.hp2 NA18950.hp1 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0002 a0003c0003t0003	a0003c0003t0002g0121 a0003c0003t0003g0120 a0003c0003t0002g0121 a0003c0003t0003g0120	2	184	0.0109	392	c.144 others(413): Show c.1446+19055_1446+19056insATGGTGATGGTGGTGGTGATGGTG ATGATGGTGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGAC AGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGTGATGGTGG TGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGTGATGGTGATGGTGGTG GTGATGGTGATGATGGTGGTGGTGGTGGTGGTGACAGTGGTGGTGGTGGT GATGGTGACAGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGACAGTGG TGGTGGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTG ACAGTGGTGGTGGTGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870189	A A	ACCCCATA others(385): Show ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCTACACACACCACACCCCACACACACCACACCCCATACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	392	c.35 others(411): Show c.35+21457_*35+21458insCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCTACACACACCACACCCCACACACACC ACACCCCATACACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870460	A A	ACACCCCA others(385): Show ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	289	0.0035	392	c.35 others(411): Show c.35+21730_*35+21731insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871076	C C	CACACACA others(385): Show CACACACACCACACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	8	0.1250	392	c.35 others(411): Show c.35+22343_*35+22344insACACACACCACACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VCX2_chrX_8164944_8176267	8169829	T T	TCCCTCCC others(385): Show TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCCCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCTC ACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACTTCTTCCTCCC TCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACA CACCACCTCTTCCCCCCTCCCTCCCCACACACCACCTCTTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0040 a0005c0005t0002g0040	1	96	0.0104	392	c.20 others(401): Show c.202_*203insGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGGAGGAAGAAGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		114		chrX	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(385): Show CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT CTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTC TGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCT GGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG GAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG AATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp2 HG01071.hp1 others(1): Show HG00423.hp1 HG01070.hp2 HG01071.hp1 HG02738.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0008 a0002c0003 a0004c0008	a0002c0003t0124 a0002c0003t0133 a0002c0003t0136 others(1): Show a0002c0003t0124 a0002c0003t0133 a0002c0003t0136 a0004c0008t0039	a0002c0003t0124g0193 a0002c0003t0133g0194 a0002c0003t0136g0215 others(1): Show a0002c0003t0124g0193 a0002c0003t0133g0194 a0002c0003t0136g0215 a0004c0008t0039g0207	4	122	0.0328	392	c.186 others(411): Show c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA GTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAG TCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGT CGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTC GTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTCA TTGGATGATTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(385): Show CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT CTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTC TGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCT GGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG GAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG AATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0172 a0002c0003t0019g0172	1	119	0.0084	392	c.186 others(411): Show c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG TAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT AGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA GTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAG TCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGT CGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTC GTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTCA TTGGATGATTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548625	T T	TGGAATCA others(385): Show TGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCT GGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG GAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG AATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA ATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAA ATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAT CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC ATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCATTCC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0132 a0002c0003t0132	a0002c0003t0132g0167 a0002c0003t0132g0167	1	230	0.0043	392	c.186 others(411): Show c.1866+3246_1866+3247insGGAATGACTGCTGGCTGGCCAAAGTG GAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGG AGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGA GTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAG TGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGT GTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA GTCATTGGATGATTCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
ZNF365_chr10_62369369_62407450	62370746	C C	CATCATAT others(385): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	75	0.0133	392	c.-37 others(403): Show c.-3726_-3725insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TGATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3622		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370753	T T	TACATCAT others(385): Show TACATCATATACATCATATATGATATATACATCATATATCACACATATGA TATATACATCATATATCACACATATGATATACATCATATATCACACATAT GATATACATCATATATCACACATATGATATACATCATATATCACACATAT GATATACATCATATATCACACATATGATATACATCATATATCACACATAT GATATACATCATATATCACACATATGATATACATCATATATCACACATAT GATATACATCATATATCACACATATGATATATATCATATATCACACATAT GATATATATCATATATCACACATATGATATATATCGTACATATCACATAT ATCATATATATCATACATATCACATATATCATATATATCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	340	0.0029	392	c.-37 others(403): Show c.-3719_-3718insACATCATATACATCATATATGATATATACATCAT ATATCACACATATGATATATACATCATATATCACACATATGATATACATC ATATATCACACATATGATATACATCATATATCACACATATGATATACATC ATATATCACACATATGATATACATCATATATCACACATATGATATACATC ATATATCACACATATGATATACATCATATATCACACATATGATATACATC ATATATCACACATATGATATACATCATATATCACACATATGATATATATC ATATATCACACATATGATATATATCATATATCACACATATGATATATATC GTACATATCACATATATCATATATATCATACATATCACATATATCATATA TATCATAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3615		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(385): Show CATATATCATATACATCATATACATCACATATATCATATACATCATATAC ATCACATATATCATATACATCATATACATCACATATATGATATATATCAT ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATCACATATATGATATATATATCATATATATCATATGATATA TATCATATATATCACATATATGATATATATCACATGTGATATATAGCATA TATATCATGCTATACATCATATATGATATATATGATATATATCACGTATG CTATATAGCATATGTGATATATATGATATATATCACATATGCTATATAGC ATATGTGATATATATGATATATATCACATATGCTATATAGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG00735.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	31	0.0645	392	c.-36 others(403): Show c.-3631_-3630insATATATCATATACATCATATACATCACATATATC ATATACATCATATACATCACATATATCATATACATCATATACATCACATA TATGATATATATCATATATATCACATATATGATATATATATCATATATCA CATATATGATATATATATCATATATCACATATATGATATATATATCATAT ATATCATATGATATATATCATATATATCACATATATGATATATATCACAT GTGATATATAGCATATATATCATGCTATACATCATATATGATATATATGA TATATATCACGTATGCTATATAGCATATGTGATATATATGATATATATCA CATATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTA TATAGCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(385): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATATTTCTATATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATATAAATATATATATAAATAT ATATTTCTATATATATAAATATATATATATAAATATATATAAATATATAT ATATTTATATATATAAATATATATATATTTATATATATAAATATATATAT ATTTATATATATAAATAAATATATATTTATATATATAAATATATATATAT TTATATATATAAATATATATATTTTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	59	0.0169	392	c.532 others(407): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAATATATATATATTTATATATATAAATATATATTTATT TATATATATAAATATATATATATTTATATATATAAATATATATATATTTA TATATATAAATATATATATATTTATATATATTTATATATATATATTTATA TATATAGAAATATATATTTATATATATATTTATATATATATATATTTATA TATATAGAAATATATATATATTTATATATATATAGAAATATATATATATT TATATATATATAAATATATATATTTATATATATATAAATATATATATATT TCTATATATATAAATATATATATTTATATATATAGAAATATATATATATT TATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(386): Show TTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTT CCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	123	0.0081	393	c.-1- others(408): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(386): Show TTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTT CTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	123	0.0081	393	c.-1- others(408): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(386): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTC TCCTTGTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTT CTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	123	0.0081	393	c.-1- others(408): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAA GGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGACAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGA AGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(386): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTT CTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	123	0.0081	393	c.-1- others(408): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGA AGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132759036	A A	AGTGGCAC others(386): Show AGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGC ATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCA GGGCACCCACATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACC CACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCTGGGGCACCCACGTG GCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAG TGGATCACGCAGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCG CTGCGGAGTGGCACCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18966.hp1 HG02523.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0287 a0002c0002t0001g0143 a0002c0002t0001g0287	2	312	0.0064	393	c.181 others(410): Show c.181+2581_181+2582insACTGCGTGATCCACTCTGCCACGTGGGT GCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCA GGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGC CACTCTGCGTGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCG CAGCGATCCACTCTGCCACGTGGGTGCCCCAGGGTGCCACTCCGCAGCGA TCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACACTGCGCAATCCACTC TGCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCAC GTGGGTGCCCCGGGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGT GCCCCGGGGTGCCAC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759036	A A	AGTGGCAC others(386): Show AGTGGCACCCTGGGGCACCCACATGGCAGAGTGGATCGCTGCGGAGTGGC ACCCTGGGGCACCCATGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCG GGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGGCACCCCGGGGCACC CACGTGGCAGAGAGGATCGCGTGGACTGGCACCCCGGGGCACCCACGTGG CAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGT GGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCG CTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0035 a0005c0005t0001g0035	1	311	0.0032	393	c.181 others(410): Show c.181+2581_181+2582insACTGCGCAATCCACTCTGCCATGTGGGT GCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCG GGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGC CACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCC GCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCAGTCCACGCGA TCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACGCTGTGCGATCCACTC TGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCAC ATGGGTGCCCCAGGGTGCCACTCCGCAGCGATCCACTCTGCCATGTGGGT GCCCCAGGGTGCCAC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759036	A A	AGTGGCAC others(386): Show AGTGGCACCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGC ACCCTGGGGCACCCATGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCG GGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGGCACCCCGGGGCACC CACGTGGCAGAGAGGATCGCGTGGACTGGCACCCCGGGGCACCCACGTGG CAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGT GGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCA CTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	311	0.0032	393	c.181 others(410): Show c.181+2581_181+2582insACTGCGCAATCCACTCTGCCATGTGGGT GCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCG GGATGCCACTCCGCAGTGATCCACTCTGCCACGTGGGTGCCCCGGGGTGC CACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCC GCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCAGTCCACGCGA TCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACGCTGTGCGATCCACTC TGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCAC ATGGGTGCCCCAGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGT GCCCCAGGGTGCCAC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759036	A A	AGTGGCAC others(386): Show AGTGGCACCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGC ACCCTGGGGCACCCATGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCG GGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGGCACCCCGGGGCACC CACGTGGCAGAGAGGATCGCGTGGACTGGCACCCCGGGGCACCCACGTGG CAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGT GGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCG CTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCACCCCAGGGCACCCACATGGCAGAGTGGATTGCGCAGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp1 HG00738.hp2 others(30): Show HG00558.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01109.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01496.hp2 HG02004.hp1 HG02040.hp2 HG02155.hp2 HG02165.hp2 HG02735.hp1 HG03490.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04199.hp2 NA18939.hp2 NA18956.hp1 NA18957.hp2 NA18998.hp1 NA19064.hp2 NA19065.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0005c0005 a0002c0002 a0002c0008 a0005c0005	a0002c0002t0001 a0002c0008t0001 a0002c0008t0012 others(1): Show a0002c0002t0001 a0002c0008t0001 a0002c0008t0012 a0005c0005t0001	a0002c0002t0001g0019 a0002c0002t0001g0024 a0002c0002t0001g0025 others(30): Show a0002c0002t0001g0019 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0043 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0249 a0002c0002t0001g0286 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0008t0001g0146 a0002c0008t0001g0167 a0002c0008t0001g0308 a0002c0008t0012g0158 a0005c0005t0001g0026 a0005c0005t0001g0027 a0005c0005t0001g0033 a0005c0005t0001g0034 a0005c0005t0001g0185 a0005c0005t0001g0186 a0005c0005t0001g0187	33	343	0.0962	393	c.181 others(410): Show c.181+2581_181+2582insACTGCGCAATCCACTCTGCCATGTGGGT GCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCG GGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGC CACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCC GCAGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCAGTCCACGCGA TCCTCTCTGCCACGTGGGTGCCCCGGGGTGCCACGCTGTGCGATCCACTC TGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCAC ATGGGTGCCCCAGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGT GCCCCAGGGTGCCAC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCCGT others(386): Show ACCCCCGTGACCACACACTGGCGGTGAGCACTTCTCACCCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAG CACTTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCC GTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	172	0.0058	393	c.-20 others(404): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTC GCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGT GTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGG GTGAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CCGTGACC others(386): Show CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACC ACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTG AGCACTTCCCACCCCGTGACCACACACTGGCGGCGACCATTTCCCACCCC CGTGACCACGCACTGGCGGCGACCATTTCCCACCCCCGTGACCACGCACT GGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTT CCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18963.hp2 NA18969.hp1 others(1): Show HG00438.hp1 NA18963.hp2 NA18969.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0001 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0012g0038 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0012g0038 a0001c0001t0014g0049	4	212	0.0189	393	c.-21 others(404): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGT GTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049290	G G	GGGGCAGA others(386): Show GGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGA GGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACATGGGGGC AGAGGGGGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGA ACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGG GGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGG AGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACAT GGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	259	0.0039	393	c.54 others(404): Show c.5440_*5441insTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCTCTGCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCCCATGTGTTC CCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCC CCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTG TTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCATGTATTCCCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCA TGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCCATGTGTTCC CCTCTGCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2813		chr8	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(386): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGG TGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGAT GGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGG TGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATG GTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGAT GATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	55	0.0182	393	c.21 others(408): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCATCACCATCACCAC CATCATCACCATCACCACCATCATCACCATCACCACCACCATCACCACCA TCACCACCATCACCATCACCACCACCACCATCACCACCATCATCACCATC ACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(386): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGAT GATGGTGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGATGG TGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATG GTGGTGGTGGTGATGGTGATGATAGTGGTGATGGTAGTGGTGATGGTGAT GATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG03486.hp2 HG02257.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0013g0043 a0001c0001t0008g0041 a0001c0001t0008g0042 a0001c0001t0013g0043	3	57	0.0526	393	c.21 others(408): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACTATCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCACCACCATCACCATCACCACCATCATCACCAT CACCACCATCATCACCATCACCACCACCATCACCACCATCACCACCACCA TCACCACCATCACCATCACCACCACCACCATCACCACCATCATCACCATC ACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C7orf50_chr7_992006_1143247	1116370	A A	ACCGGCTT others(386): Show ACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGCT CTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACT GCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGAC ATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGAT GATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACG CAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACG CCCACGCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCA CCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGAC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19080.hp2 NA19055.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0185 a0001c0001t0004g0186	2	266	0.0075	393	c.129 others(412): Show c.129+10886_129+10887insGTCCGTAGAGCTGCAGTGATGTCATC ATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGAT GTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGC AGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAG AGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGT CCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAA GCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTG ATGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCG TCGGTGATGGAAGCCGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(386): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCT CTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0042 a0004c0006t0042	a0004c0006t0042g0181 a0004c0006t0042g0181	1	22	0.0455	393	c.482 others(410): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(386): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCT CTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0094 a0003c0008t0006g0094	1	22	0.0455	393	c.482 others(410): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCCCTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALCOCO2_chr17_48826035_48870245	48858046	A A	ATAGAATA others(386): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	62	0.0161	393	c.100 others(412): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAG	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12			chr17	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(386): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03490.hp2 HG04204.hp1 HG01099.hp1 HG03490.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0034 a0001c0002t0060 a0001c0001t0002 a0001c0001t0034 a0001c0002t0060	a0001c0001t0002g0196 a0001c0001t0034g0083 a0001c0002t0060g0104 a0001c0001t0002g0196 a0001c0001t0034g0083 a0001c0002t0060g0104	3	11	0.2727	393	c.565 others(410): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CCDC63_chr12_110841987_110912535	110905890	A A	ATTATATA others(386): Show ATTATATATAATATATATTATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATTATATAATATATATTATATATAAT ATATATTATATATAATATAATATATATTATATATAATATATATTATATAA TATAATATATATTATATATAATATATATTATATTATATATAATATATATT ATATATAATATATATTATATATAATATATATTATATAAAATATATATTAT ATTATATATAATATATATTATATTATATATAAAATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0160 a0002c0003t0003g0271 a0002c0003t0001g0160 a0002c0003t0003g0271	2	279	0.0072	393	c.154 others(412): Show c.1546+1099_1546+1100insTTATATATAATATATATTATATTATA TATAATATATATTATATATAATATATATTATATATAATATATATTATATT ATATAATATATATTATATATAATATATATTATATATAATATAATATATAT TATATATAATATATATTATATAATATAATATATATTATATATAATATATA TTATATTATATATAATATATATTATATATAATATATATTATATATAATAT ATATTATATAAAATATATATTATATTATATATAATATATATTATATTATA TATAAAATATATTATATAAAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATTATATATAATATATATTATATAAAATATAT ATTATATTATATAATAT	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CCR9_chr3_45881543_45908174	45890269	A A	ATATTTAT others(386): Show ATATTTATATAAATATATATATAACATATATATATATTTATATAAATATA TATATAACATATATATATATTTATATAAATATATATATAACATATATATA TATTTATATAAATATATATATAACATATATATTTATATAAATATATATAT AACATATATATATTTATATAAATATATATATAACATATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATATTTATATAAATATATATATAACATATATATATTTATATAAATA TATATATAACATATATATATTTATATAAATATATATATAACATATATATA TTTATATAAATATATATATAACATATATATATTTATATAAATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19088.hp1 NA18970.hp1 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0039 a0003c0004t0001g0039	2	354	0.0056	393	c.-29 others(410): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATATTTATATAAATATATATATAACATATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATAACATATATATATTTATATAAA TATATATATAACATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2			chr3	TogoVar
CLTCL1_chr22_19174473_19296719	19202514	A A	ATCACGGC others(386): Show ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGCACCTCCC GCACCACCCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCC TTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	64	0.0156	393	c.360 others(412): Show c.3601-1022_3601-1021insATGACGGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGG TGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCG TGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGG AGGGGTGGTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGA GGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGG TGAAGCAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTT TGGGGGAGGTGCCGTGA	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar

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