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
TFCP2L1_chr2_121211587_121290202	121225942	T T	TACACACA others(198): Show TACACACACGGGAACACGGTAAACACCACTGCCACGGTGCCCACACACAC GGGAACACGGTAAACACCACTGCCACGGTGTCCATACACACGGGAACACG GTAAACACCACTGCCACGGTGTCCATACACACGGGAACGTGGTAAACACC ACTGCCACGGTGTCTACACACACGGGAACACGGTAAACACCACTGCCACG GTGCCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0336 a0001c0001t0063g0336	1	375	0.0027	205	c.134 others(222): Show c.1342-330_1342-329insGGGCACCGTGGCAGTGGTGTTTACCGTG TTCCCGTGTGTGTAGACACCGTGGCAGTGGTGTTTACCACGTTCCCGTGT GTATGGACACCGTGGCAGTGGTGTTTACCGTGTTCCCGTGTGTATGGACA CCGTGGCAGTGGTGTTTACCGTGTTCCCGTGTGTGTGGGCACCGTGGCAG TGGTGTTTACCGTGTTCCCGTGTGTGT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	13/14			chr2	TogoVar
THBS3_chr1_155190588_155212897	155190864	T T	TCCGGGGC others(198): Show TCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGC CGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGG GGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	204	0.0049	205	c.49 others(216): Show c.4976_*4977insCCCACGGTGTCACCTCGGCCCCGGACACCAGGCC GGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCG GAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCAC CTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCC ACGGTGTCACCTCGGCCCCGG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4723		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190864	T T	TCCGGGGC others(198): Show TCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGC CGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGG AGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGG GGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	204	0.0049	205	c.49 others(216): Show c.4976_*4977insCCCACGGTGTCACCTCGGCCCCGGACACCAGGCC GGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCG GACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCAC CTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCC ACGGTGTCACCTCGGCCCCGG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4723		chr1	TogoVar
THEG_chr19_356747_381026	376743	T T	TGTGCCCC others(198): Show TGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	334	0.0030	205	c.-77 others(214): Show c.-774_-773insGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGG GAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		718		chr19	TogoVar
TIMM22_chr17_992129_1008671	993519	C C	CCCTCACG others(198): Show CCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACC CTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACAT AATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCAC CTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACAT AATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA18612.hp1 NA18946.hp2 HG00558.hp2 NA18612.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0028 a0001c0001t0005 a0001c0001t0028	a0001c0001t0005g0028 a0001c0001t0028g0028 a0001c0001t0005g0028 a0001c0001t0028g0028	3	269	0.0112	205	c.-36 others(216): Show c.-3624_-3623insCCTCACGTAATCCACCCTCACGTAATCCACCTCA CATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACAT AATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCA CCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCTCACAT AATCCACCCTCACATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3609		chr17	TogoVar
TRAPPC12_chr2_3374694_3484565	3438190	T T	TCCCCCAA others(198): Show TCCCCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACC CCATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATC ACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCC TGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCACCACCCCTGGA TTCATC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	342	0.0029	205	c.141 others(224): Show c.1418-5585_1418-5584insCAATCACCCCTGGATTAATCCCCCCA TCAGCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAA TCCCCCCACCACCCCTGGATTCATCCCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM24_chr7_138455259_138594996	138531246	A A	ATGTTACA others(198): Show ATGTTACATATGTTACATATGTTTACATGTGTTACATATGTTACATATGT TTACATGTGTTACATATGTTACATATGTTTACATGTGTTACATATGTTAC ATATGTTTACATGTGTTACATATGTTACATATGTTACATATGTTTACATG TGTTACATATGTTACATATGTTTACATGTGTTACATATGTTACATATGTT TACATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0056 a0001c0004t0056	a0001c0004t0056g0008 a0001c0004t0056g0008	1	304	0.0033	205	c.996 others(222): Show c.996+2056_996+2057insTACATATGTTTACATGTGTTACATATGT TACATATGTTTACATGTGTTACATATGTTACATATGTTTACATGTGTTAC ATATGTTACATATGTTACATATGTTTACATGTGTTACATATGTTACATAT GTTTACATGTGTTACATATGTTACATATGTTTACATGTGTTACATATGTT ACATATGTTTACATGTGTTACATATGT	TRIM24	ENSG00000122779.18	transcript	ENST00000343526.9	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TSNARE1_chr8_142207080_142408182	142348476	C C	CAAGCTGG others(198): Show CAAGCTGGCTGCTCCCGGCACCCCATGCCCACCCTCCCCTGGCCCCCGCT CCCGTCCCAGGCTGCCCCGAAGCTGGCTGCTCCCGGCACCCCCATGCCCA CCCTCCCCTGGCCCCCGCTCCCGCCCCAGGCTGCCCCGAAGCTGGCTGCT CCCGGCACCCCATGCCCACCCTCCCCTGGCCCCCGCTCCCGTCCCAGGCT GCCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0234 a0005c0009t0002g0234	1	209	0.0048	205	c.89- others(220): Show c.89-2585_89-2584insCGGGGCAGCCTGGGACGGGAGCGGGGGCCA GGGGAGGGTGGGCATGGGGTGCCGGGAGCAGCCAGCTTCGGGGCAGCCTG GGGCGGGAGCGGGGGCCAGGGGAGGGTGGGCATGGGGGTGCCGGGAGCAG CCAGCTTCGGGGCAGCCTGGGACGGGAGCGGGGGCCAGGGGAGGGTGGGC ATGGGGTGCCGGGAGCAGCCAGCTT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	2/13			chr8	TogoVar
TUBB3_chr16_89918342_89941097	89934129	C C	CCTGTGTC others(198): Show CCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCC TGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGG GCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGAT GCCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTC CCACGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	395	0.0025	205	c.278 others(220): Show c.278-562_278-561insCGTCTGTGTCCTGGGGCGGGGCCGTGGATG CCACGTTCCCACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCC CACGTCTGTGTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGT GTCCTGGGGCGGGGCCGTGGATGCCACGTTCCCACGTCTGTGTCCTGGGG CGGGGCCGTGGATGCCACGTTCCCA	TUBB3	ENSG00000258947.8	transcript	ENST00000315491.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
VPS53_chr17_503668_719839	649137	T T	TGAAGATC others(198): Show TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA GGACAGAGGAATGGAACAGGCACCGAAGATCGTACACTGTAGGACAGAGG AATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGGAATGGAACA GGCACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0117 a0001c0001t0103g0117	1	94	0.0106	205	c.608 others(222): Show c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACGAT CTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCAT TCCTCTGTCCTCCAGTGTAAGATCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	649137	T T	TGAAGATC others(198): Show TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA GGACAGAGGAATGGAACAGGCACCGAAGATTGTACACTGTAGGACAGAGG AATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGGAATGGAACA GGCACC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01081.hp2 others(37): Show HG00423.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG03492.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp2 NA18978.hp2 NA18983.hp2 NA18987.hp2 NA19009.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0007c0012	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(20): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0033 a0001c0001t0091 a0001c0001t0104 a0001c0001t0107 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0121 a0001c0002t0053 a0001c0007t0011 a0001c0007t0012 a0001c0007t0024 a0001c0007t0065 a0001c0007t0071 a0007c0012t0122	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(37): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0011g0013 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0017g0118 a0001c0001t0017g0124 a0001c0001t0017g0125 a0001c0001t0033g0119 a0001c0001t0033g0120 a0001c0001t0091g0129 a0001c0001t0104g0212 a0001c0001t0107g0127 a0001c0001t0110g0122 a0001c0001t0112g0138 a0001c0001t0113g0230 a0001c0001t0115g0144 a0001c0001t0116g0211 a0001c0001t0117g0143 a0001c0001t0119g0123 a0001c0001t0121g0132 a0001c0002t0053g0048 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0107 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0024g0108 a0001c0007t0024g0109 a0001c0007t0065g0104 a0001c0007t0071g0112 a0007c0012t0122g0140	40	133	0.3008	205	c.608 others(222): Show c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACAAT CTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCAT TCCTCTGTCCTCCAGTGTAAGATCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	649137	T T	TGAAGATC others(198): Show TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA GGACAGAGGAATGGAACAGGCACTGAAGATTGTACACTGGAGGACAGAGG AATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGGAATGGAACA GGCACC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02602.hp1 HG03516.hp2 others(6): Show HG02135.hp2 HG02602.hp1 HG03516.hp2 NA18747.hp1 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19087.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0075 a0001c0005t0010 a0001c0005t0021 others(5): Show a0001c0002t0075 a0001c0005t0010 a0001c0005t0021 a0001c0005t0044 a0001c0005t0047 a0001c0005t0048 a0001c0005t0049 a0001c0005t0050	a0001c0002t0075g0041 a0001c0005t0010g0007 a0001c0005t0010g0008 others(6): Show a0001c0002t0075g0041 a0001c0005t0010g0007 a0001c0005t0010g0008 a0001c0005t0021g0006 a0001c0005t0044g0044 a0001c0005t0047g0009 a0001c0005t0048g0005 a0001c0005t0049g0010 a0001c0005t0050g0011	9	102	0.0882	205	c.608 others(222): Show c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTACAAT CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCAT TCCTCTGTCCTCCAGTGTAAGATCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS53_chr17_503668_719839	649137	T T	TGAAGATC others(198): Show TGAAGATCTTACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCT TACACTGGAGGACAGAGGAATGGAACAGGCACTGAAGATCTTACACTGGA GGACAGAGGAATGGAACAGGCACTGAAGATTGTACACTGTAGGACAGAGG AATGGAACAGGCACCGAAGATCTTACACTGGAGGACAGAGGAATGGAACA GGCACC	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18747.hp2 NA18955.hp2 others(2): Show HG01074.hp2 NA18747.hp2 NA18955.hp2 NA18984.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0001 a0001c0002t0068 a0001c0002t0074 others(2): Show a0001c0002t0001 a0001c0002t0068 a0001c0002t0074 a0001c0005t0077 a0001c0011t0055	a0001c0002t0001g0094 a0001c0002t0068g0093 a0001c0002t0074g0095 others(2): Show a0001c0002t0001g0094 a0001c0002t0068g0093 a0001c0002t0074g0095 a0001c0005t0077g0092 a0001c0011t0055g0091	5	98	0.0510	205	c.608 others(222): Show c.608+4153_608+4154insGGTGCCTGTTCCATTCCTCTGTCCTCCA GTGTAAGATCTTCGGTGCCTGTTCCATTCCTCTGTCCTACAGTGTACAAT CTTCAGTGCCTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGC CTGTTCCATTCCTCTGTCCTCCAGTGTAAGATCTTCAGTGCCTGTTCCAT TCCTCTGTCCTCCAGTGTAAGATCTTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
VPS8_chr3_184807166_185057604	184895600	C C	CCCCCCCT others(198): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCT CCTCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0272 a0004c0003t0001g0272	1	260	0.0038	205	c.200 others(222): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(198): Show CCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0250 a0008c0017t0001g0250	1	208	0.0048	205	c.200 others(222): Show c.2004+709_2004+710insTCCTCCTCCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(198): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCT CCTCCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0075 a0004c0003t0001g0075	1	208	0.0048	205	c.200 others(222): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(198): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCT CCTCCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	208	0.0048	205	c.200 others(222): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137172	T T	TCATATAT others(198): Show TCATATATATCATATATATATCATATATATCATATATGATACATATATAT ATGATACATGTATCATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATATATC TCATATATGATACATATATATCTCATATATGATACATATATATCTCATAT ATGATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	315	0.0032	205	c.856 others(222): Show c.856+1989_856+1990insATATCATATATATCATATATGATACATA TATATATGATACATGTATCATATATGATACATATATATCATATATATGAT ACATATATATCTCATATATGATACATATATATCTCATATATGATACATAT ATATCTCATATATGATACATATATATCTCATATATGATACATATATATCT CATATATGATACATATATATCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(198): Show GTGTATACACTGTATATACAGTATATATACTGTATATACAGTGTATGCAC TGTATATACAGTATATATACTGTATATACAGTGTATGCACTGTATATACA GTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTG TATATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGT ATGCAC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	42	0.0238	205	c.75+ others(222): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACAGTATATATACTGTATATACAGTGCATACACTGTATATACAGT ATATATACTGTATATACAGTGTATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR7_chr18_56646359_57034792	57024623	A A	AACTATGA others(198): Show AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTT ATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0047 a0001c0002t0018g0047	1	119	0.0084	205	c.427 others(224): Show c.4270-2381_4270-2380insACTATGATAGTTATGTCCCTTACAGG ATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGACTATGATAGTTATGTCCCTTACAGGATTTCACATATCC CTATTCTCAGACAGGAATAGGGATATGTG	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27			chr18	TogoVar
WRAP73_chr1_3625770_3655103	3643567	T T	TGAGCCCC others(198): Show TGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCG CTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCC GCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCC CGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCC CCGCTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04184.hp2 HG02602.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	2	342	0.0058	205	c.339 others(222): Show c.339+3098_339+3099insCAGCGGGGCCGCTGGGTCCCCTTCCGAA GGCGCGACCCCATGTCCGGGGCTCAGCGGGGCCGCTGGGTCCCCTTCCGA AGGCGCGACCCCATGTCCGGGGCTCAGCGGGGCCGCTGGGTCCCCTTCCG AAGGCGCGACCCCATGTCCGGGGCTCAGCGGGGCCGCTGGGTCCCCTTCC GAAGGCGCGACCCCATGTCCGGGGCTC	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
XRCC2_chr7_152639776_152681141	152674684	A A	AATATATT others(198): Show AATATATTTTAAATATATATAATATATATTTTAAAATATATTTATATATA ATATATTTTTAAATATATATTATATATATTTTAAAATATATTTATATATA ATATATTTTTAAATATATATTATATATAATATATTTTAAAATATATATTA TATATAATATATATTTTAAAATATATTATATAAATATATTTTAAAATATG TATTAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02109.hp2 HG02145.hp2 others(1): Show HG01361.hp1 HG02109.hp2 HG02145.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0184 a0001c0001t0011g0185 a0001c0001t0011g0186 others(1): Show a0001c0001t0011g0184 a0001c0001t0011g0185 a0001c0001t0011g0186 a0001c0001t0011g0187	4	391	0.0102	205	c.39+ others(220): Show c.39+1356_39+1357insATAATACATATTTTAAAATATATTTATATA ATATATTTTAAAATATATATTATATATAATATATATTTTAAAATATATTA TATATAATATATATTTAAAAATATATTATATATAAATATATTTTAAAATA TATATAATATATATTTAAAAATATATTATATATAAATATATTTTAAAATA TATATTATATATATTTAAAATATAT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZC3H14_chr14_88558037_88632596	88608210	T T	TACCCTGC others(198): Show TACCCTGCAAGTGAATACCATCCCCATCTCACCCTGCAAGTGAATACCAT CCCCATCTCACCCTGCAAGTGAATACCATCCCCCATCTCACCCTGCAAGT GAATACCATCCCCATCTCATCCTGCAAGTGAATACCATCCCCATCTCACC CTGCAAGTGAATACCATCCCCATCTCACCCTGCAAGTGAATACCATCCCC CATCTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	311	0.0032	205	c.186 others(222): Show c.1869-900_1869-899insGAATACCATCCCCATCTCACCCTGCAAG TGAATACCATCCCCCATCTCACCCTGCAAGTGAATACCATCCCCATCTCA CCCTGCAAGTGAATACCATCCCCATCTCACCCTGCAAGTGAATACCATCC CCCATCTCACCCTGCAAGTGAATACCATCCCCATCTCATCCTGCAAGTGA ATACCATCCCCATCTCACCCTGCAAGT	ZC3H14	ENSG00000100722.20	transcript	ENST00000251038.10	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(198): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGGGAGGGGAGAGGAGGAGAGGGGAGGGGAGGGGAGGGGAGA GGAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(54): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp2 HG02135.hp1 HG02258.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03490.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18942.hp1 NA18946.hp1 NA18948.hp1 NA18966.hp1 NA18977.hp1 NA19054.hp2 NA19066.hp2 NA19081.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0014	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0022 others(54): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0135 a0001c0001t0002g0168 a0001c0001t0002g0220 a0001c0001t0003g0020 a0001c0001t0003g0110 a0001c0001t0003g0207 a0001c0001t0004g0017 a0001c0001t0004g0104 a0001c0001t0010g0165 a0001c0001t0015g0228 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0002g0085 a0002c0002t0002g0131 a0002c0002t0002g0214 a0002c0002t0003g0146 a0002c0002t0003g0186 a0002c0002t0005g0083 a0002c0002t0014g0037	57	60	0.9500	205	c.103 others(224): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCT CCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTTC CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCCCCTCT CCTCCCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(198): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGATG GGAGGGGAGGGGAGGGGAGAGGAGGAGAGGGGAGGGGAGGGGAGGGGAGA GGAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	4	0.2500	205	c.103 others(224): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCATCTCCTCCCCTCCCCTCT CCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTCCTCTACCCTCTCCTTC CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTCCCCTCT CCTCCCCTCTCCTCCCCTCCCCTCCCCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF253_chr19_19860882_19899674	19891007	A A	ATTTTTTT others(198): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp1 HG02965.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0123 a0001c0001t0003g0038 a0001c0001t0001g0123 a0001c0001t0003g0038	2	362	0.0055	205	c.227 others(220): Show c.227-461_227-460insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTA CCACGCCCGGCTAATTTTTTTTTTT	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF652_chr17_49284206_49367250	49348479	A A	AAAAAGAA others(198): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0046 a0001c0001t0012g0049 a0001c0001t0012g0046 a0001c0001t0012g0049	2	53	0.0377	205	c.-25 others(226): Show c.-259+13429_-259+13430insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	1/5			chr17	TogoVar
ZSCAN5A_chr19_56216303_56319839	56302581	C C	CTCCCTCC others(198): Show CTCCCTCCCCCCTTCCTTTTCTTCCTCCCCCTTTTCTTCCTCTCCCTCTT CCTCCCTCCCTCCTCCTCCCTTCCTTTTCTTCCTCCCCCCTTCCTTTTCT TCCTCCCCCTCTTCTTCCTCTCCCTCTTCCTCCCTCCCTCCTCCCCCCTT CCTTTTCTTCCTCCCTCCCTCCCCCCTTCCTTTTCTTCCTCCCTCCCTCC CCCCTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	282	0.0035	205	c.-12 others(226): Show c.-128+10701_-128+10702insAAGGGGGGAGGGAGGGAGGAAGAA AAGGAAGGGGGGAGGGAGGGAGGAAGAAAAGGAAGGGGGGAGGAGGGAGG GAGGAAGAGGGAGAGGAAGAAGAGGGGGAGGAAGAAAAGGAAGGGGGGAG GAAGAAAAGGAAGGGAGGAGGAGGGAGGGAGGAAGAGGGAGAGGAAGAAA AGGGGGAGGAAGAAAAGGAAGGGGGGAGGGA	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ABR_chr17_998519_1184981	1164197	G G	GCCCCAGA others(199): Show GCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCC AGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGG GGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATC TAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGAC GCAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02630.hp1 others(1): Show HG02280.hp1 HG02622.hp2 HG02630.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0034 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0034 a0001c0002t0038	a0001c0001t0001g0132 a0001c0001t0008g0011 a0001c0001t0034g0002 others(1): Show a0001c0001t0001g0132 a0001c0001t0008g0011 a0001c0001t0034g0002 a0001c0002t0038g0012	4	319	0.0125	206	c.61+ others(223): Show c.61+15469_61+15470insTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGGATTCAGTGCT GTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTT CACTGGGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288299	G G	GTCTCTGC others(199): Show GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	182	0.0055	206	c.52 others(217): Show c.5264_*5265insGACACGGGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4091		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288993	T T	TCCGTCCC others(199): Show TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	236	0.0042	206	c.45 others(217): Show c.4570_*4571insGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGGGCAGAGACACGGGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3397		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289035	C C	CCGTGTCT others(199): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0173 a0001c0015t0001g0173	1	262	0.0038	206	c.45 others(217): Show c.4528_*4529insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACTCGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3355		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289516	T T	TCCCTGCT others(199): Show TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	271	0.0037	206	c.40 others(217): Show c.4047_*4048insGGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGA CGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGAC ACGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2874		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289615	T T	TCCCCCGT others(199): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	249	0.0040	206	c.39 others(217): Show c.3948_*3949insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGGGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2775		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290128	C C	CCCCGAGT others(199): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	228	0.0044	206	c.34 others(217): Show c.3435_*3436insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCA GAGACTCGGGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACTCGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2262		chr1	TogoVar
ACTL8_chr1_17750333_17832063	17814510	T T	TGTAGCAT others(199): Show TGTAGCATAGCAAGACTCCATATCTACCAACAAAACAAGACAATACATAC CATTATGTTACAATCGCCTACAGTATTCAGTAGAATAACACACAGTACCA GTTCATAGCATAGCAAGACTCCATATCTACCAACAAAACAGGACAATACA TACCATTATGTTACAATCGCCTACAGTATTCAGTAGAATAACACGCAGTA CCAGTTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18984.hp2 NA18944.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0239 a0001c0001t0001g0075 a0001c0001t0001g0239	2	355	0.0056	206	c.-24 others(223): Show c.-24-8385_-24-8384insACAGTACCAGTTCATAGCATAGCAAGAC TCCATATCTACCAACAAAACAGGACAATACATACCATTATGTTACAATCG CCTACAGTATTCAGTAGAATAACACGCAGTACCAGTTCGTAGCATAGCAA GACTCCATATCTACCAACAAAACAAGACAATACATACCATTATGTTACAA TCGCCTACAGTATTCAGTAGAATAACAC	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTL8_chr1_17750333_17832063	17814510	T T	TGTAGCAT others(199): Show TGTAGCATAGCAAGACTCCATATCTACCAACAAAACAAGACAATACATAC CATTATGTTACAATCGCCTACAGTATTCAGTAGAATAACACGCAGTACCA GTTCATAGCATAGCAAGACTCCATATCTACCAACAAAACAGGACAATACA TACCATTATGTTACAATCGCCTACAGTATTCAGTAGAATAACACGCAGTA CCAGTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp1 HG02080.hp1 others(6): Show HG00621.hp1 HG01261.hp1 HG02080.hp1 HG02683.hp2 NA18612.hp2 NA18957.hp2 NA18965.hp2 NA18977.hp1 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0003c0007t0001 a0001c0001t0001 a0001c0001t0002 a0003c0007t0001	a0001c0001t0001g0103 a0001c0001t0002g0002 a0001c0001t0002g0023 others(5): Show a0001c0001t0001g0103 a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0058 a0001c0001t0002g0079 a0001c0001t0002g0145 a0001c0001t0002g0256 a0003c0007t0001g0050	9	362	0.0249	206	c.-24 others(223): Show c.-24-8393_-24-8188dupGAATAACACGCAGTACCAGTTCATAGCA TAGCAAGACTCCATATCTACCAACAAAACAGGACAATACATACCATTATG TTACAATCGCCTACAGTATTCAGTAGAATAACACGCAGTACCAGTTCGTA GCATAGCAAGACTCCATATCTACCAACAAAACAAGACAATACATACCATT ATGTTACAATCGCCTACAGTATTCAGTA	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770756	T T	TTATATAT others(199): Show TTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATAA AAATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	206	c.-12 others(217): Show c.-1237_-1236insTAAATTTTTATATATGATATATATAAATTTTTAT ATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTT TTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAA ATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATGATATATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1196		chr3	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(199): Show GGTGTGTCTACACACACCTATATGTGCGTGTGTGTACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATA TGTGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTA TATGTGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	90	0.0111	206	c.130 others(225): Show c.1302+3274_1302+3275insCTACACACACCTATATGTGCGTGTGT GTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGT GTGTGTACACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045389	T T	TGTCTACA others(199): Show TGTCTACACACACCTATATGTGCGTGTGTACACACACCTATATGTGCGTG TGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCG TGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG CGTGCGTGTACACACACCTATATGTGCGTGCGTGTACACACACCTATATG TGCGTGC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	327	0.0031	206	c.130 others(225): Show c.1302+3274_1302+3275insCTACACACACCTATATGTGCGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGCGTGTACACACACCTATATGTGCGT GCGTGTACACACACCTATATGTGCGTGCGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS17_chr15_99966437_100346975	100058241	C C	CTAACACC others(199): Show CTAACACCCCCTATCCCGGCTCTAACCCTCCTATCCCAGCTCTTAACACC CCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCC GGCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACC CTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACCCTCCTATCC CGGCTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02647.hp2 others(5): Show HG02055.hp1 HG02622.hp2 HG02647.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp2 NA18906.hp1 NA20129.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0009 a0004c0003 a0004c0030 others(1): Show a0003c0009 a0004c0003 a0004c0030 a0007c0023	a0003c0009t0001 a0003c0009t0003 a0004c0003t0001 others(2): Show a0003c0009t0001 a0003c0009t0003 a0004c0003t0001 a0004c0030t0001 a0007c0023t0001	a0003c0009t0001g0110 a0003c0009t0001g0126 a0003c0009t0001g0199 others(5): Show a0003c0009t0001g0110 a0003c0009t0001g0126 a0003c0009t0001g0199 a0003c0009t0003g0052 a0004c0003t0001g0190 a0004c0030t0001g0214 a0007c0023t0001g0072 a0007c0023t0001g0206	8	190	0.0421	206	c.213 others(225): Show c.2138-4188_2138-4187insAGAGCCGGGATAGGAGGGTTAGAGCC GGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGA GGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAG CCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCTGGGATA GGAGGGTTAGAGCCGGGATAGGGGGTGTTA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
ADGRB1_chr8_142444649_142550007	142500245	G G	GCGCCGCT others(199): Show GCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCCCCGCCCCCGCGCC TTTCCTCCCCTGCCCCCCACGCCGCTCCTCCACCTCCCCCCGCGCCGCTC CTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCC ACCTCCCCACGCGCCGCTCCTCCCCCGCCCCCCGCGCCTTTCCTCCCCTG CCCCCCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02809.hp2 others(6): Show HG02572.hp1 HG02622.hp2 HG02809.hp2 HG02818.hp2 HG02897.hp1 HG02976.hp2 HG03471.hp2 NA19043.hp1 NA19240.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0001c0006 a0001c0007 others(2): Show a0001c0003 a0001c0006 a0001c0007 a0001c0015 a0009c0039	a0001c0003t0003 a0001c0006t0001 a0001c0007t0001 others(3): Show a0001c0003t0003 a0001c0006t0001 a0001c0007t0001 a0001c0007t0003 a0001c0015t0001 a0009c0039t0003	a0001c0003t0003g0027 a0001c0006t0001g0287 a0001c0006t0001g0288 others(6): Show a0001c0003t0003g0027 a0001c0006t0001g0287 a0001c0006t0001g0288 a0001c0006t0001g0289 a0001c0006t0001g0290 a0001c0007t0001g0252 a0001c0007t0003g0275 a0001c0015t0001g0025 a0009c0039t0003g0236	9	308	0.0292	206	c.267 others(225): Show c.2675+9465_2675+9466insCCCGCCCCCGCGCCTTTCCTCCCCTG CCCCCCACGCCGCTCCTCCACCTCCCCCCGCGCCGCTCCTCCACCTCCCC ACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGC GCCGCTCCTCCCCCGCCCCCCGCGCCTTTCCTCCCCTGCCCCCCACGCCG CTCCTCCACCTCCCCACGCGCCGCTCCTCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(199): Show TACACATATGTGTATATGTATATATACACATATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACACATATACACATATGTGTATATGTATATGTACACA CATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19083.hp1 HG03471.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0006 a0001c0001t0021g0082 a0001c0001t0002g0006 a0001c0001t0021g0082	2	79	0.0253	206	c.48- others(223): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACACATATACACATATGTG TATATGTATATGTACACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(199): Show TACACATATGTGTATATGTATATATACACATATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA CATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02040.hp1 HG02809.hp1 others(1): Show HG01884.hp2 HG02040.hp1 HG02809.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0013 a0001c0001t0049 a0001c0002t0024 others(1): Show a0001c0001t0013 a0001c0001t0049 a0001c0002t0024 a0001c0003t0004	a0001c0001t0013g0106 a0001c0001t0049g0021 a0001c0002t0024g0149 others(1): Show a0001c0001t0013g0106 a0001c0001t0049g0021 a0001c0002t0024g0149 a0001c0003t0004g0005	4	81	0.0494	206	c.48- others(223): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15530285	T T	TAGATATT others(199): Show TAGATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATA TATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGA TATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATA TAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTC CATATAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	61	0.0164	206	c.409 others(225): Show c.409+14486_409+14487insCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTAT ATAGAATATATGGAAATACGTATATAGAATATATGGAAATACGTATATAG AATATATGGAAATACGTATATAGAATATCT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGRN_chr1_1015120_1061116	1049124	G G	GGGGGGCC others(199): Show GGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAG CTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGGAGGGGGGGGCCGGGGCA GCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGG GAGGGGACGGGGGGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGG TGGGGAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0180 a0002c0005t0004g0180	1	202	0.0050	206	c.429 others(221): Show c.4298+69_4298+70insGCCGGGGCAGCTCAGGTGGGTGGGGTGGGG ACGGGGGCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGGAG GGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCA GCTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGAGGGGGGGCCGGGGCAG CTCAGGTGGGTGGGGTGGGGACGGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK3_chr9_4704556_4746202	4714010	A A	ACACCTCC others(199): Show ACACCTCCACATATACACACCTCCACAACTCCACATATACACACCTCCAC ATATACACACCTACACATATACGCCTACACATATACGCCTACACATATAC GCCTACACATATACACACCTCCACATATACACACCTCCACATATACGCCT ACACATATACGCCTACACATATACACACCTCCACATATACACACCTCCAC ATATACG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18989.hp1 NA18747.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0074 a0001c0001t0003g0265 a0001c0001t0002g0074 a0001c0001t0003g0265	2	375	0.0053	206	c.564 others(221): Show c.564-915_564-914insCGTATATGTGGAGGTGTGTATATGTGGAGG TGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGGAGGTGTGTA TATGTGGAGGTGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTG TAGGCGTATATGTGTAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGT TGTGGAGGTGTGTATATGTGGAGGTG	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(199): Show AATATATATATACATATATAAATATATATATACATATATAAATATATATA CATATATAAATATATATACATATATAAATATATATACATATATAAATATA TATACATATATAAATATATATACATATATAAATATATATACATATATAAA TATATATACATATATAAATATATATATACATATATAAATATATATACATA TATAAAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp2 HG02148.hp1 others(2): Show HG01943.hp2 HG02004.hp2 HG02148.hp1 NA19002.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0012 a0001c0001t0003g0214 a0001c0001t0003g0271 others(2): Show a0001c0001t0003g0012 a0001c0001t0003g0214 a0001c0001t0003g0271 a0001c0001t0003g0279 a0001c0001t0009g0215	5	196	0.0255	206	c.151 others(223): Show c.151+5564_151+5565insATTTATATATGTATATATATTTATATAT GTATATATATATTTATATATGTATATATATTTATATATGTATATATATTT ATATATGTATATATATTTATATATGTATATATATTTATATATGTATATAT ATTTATATATGTATATATATTTATATATGTATATATATTTATATATGTAT ATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735372	A A	AATATATA others(199): Show AATATATATATACATATATAAATATATATATACATATATAAATATATATA TACATATATAAATATATATACATATATAAATATATATACATATATAAATA TATATACATATATAAATATATATACATATATAAATATATATACATATATA AATATATATACATATATAAATATATATACATATATAAATATATATACATA TATAAAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	192	0.0052	206	c.151 others(223): Show c.151+5564_151+5565insATTTATATATGTATATATATTTATATAT GTATATATATTTATATATGTATATATATTTATATATGTATATATATTTAT ATATGTATATATATTTATATATGTATATATATTTATATATGTATATATAT TTATATATGTATATATATTTATATATGTATATATATATTTATATATGTAT ATATATATTTATATATGTATATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(199): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATACTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	319	0.0031	206	c.181 others(223): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATATG TTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGT ATATCATATAGCACATATAGTATACATAAAATACTGATATTTTATATAAA AATATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGAT ACGTGTATATCATATAGCACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar

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