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
THEG_chr19_356747_381026	377055	T T	TCTGTGCC others(223): Show TCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCGTGTGCCCCACCCAGCCTCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0001 a0003c0004t0004g0001	1	370	0.0027	230	c.-10 others(241): Show c.-1086_-1085insGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1030		chr19	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCCTG others(223): Show CCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCT CTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18980.hp1 NA18989.hp2 NA18953.hp1 NA18980.hp1 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0197 a0002c0002t0001g0202 a0002c0002t0001g0203	3	370	0.0081	230	c.-13 others(241): Show c.-1313_-1312insAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGG CTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543205	T T	TGTCTGTG others(223): Show TGTCTGTGACCACCACCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTAC CCCCACCTCCTCTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCTCCCCC TGCCCCTCGCCCTCCCTGTCCGTGACCCCCTCCTCCCCCTGCGCCCCTAC CCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCCCGTCCGTGAC CCCCACCTCCTCCCCCTGCCCCTCGCCCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0036 a0003c0002t0002g0036	1	368	0.0027	230	c.169 others(249): Show c.1690+3698_1690+3699insGTCTGTGACCACCACCTCCCCCTGCG CCCCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCCCGT CCGTGACCCCCACCTCCTCCCCCTGCCCCTCGCCCTCCCTGTCCGTGACC CCCTCCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCT CTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCTCCCCCTGCCCCTCGCC CTCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12			chr13	TogoVar
TMEM120B_chr12_121707752_121787068	121747693	G G	GCTGGGGT others(223): Show GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0128 a0002c0002t0004g0128	1	314	0.0032	230	c.189 others(245): Show c.189-620_189-619insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129089236	G G	GTGTCCTC others(223): Show GTGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGATGTCCTCCATGAC CGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTG ACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGTGTCCTCC ATGACCGGGGTGTCCTCCATGACCGGGGTGTCCTCCCTGACCGGGGTGTC CTCCATGACCGGGTGTCCTCCCTGACCGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0091 a0001c0001t0025g0091	1	94	0.0106	230	c.144 others(249): Show c.1444-4535_1444-4534insTCCCGGTCAGGGAGGACACCCGGTCA TGGAGGACACCCCGGTCAGGGAGGACACCCCGGTCATGGAGGACACCCCG GTCATGGAGGACACCCGGTCATGGAGGACGCCCCGGTCATGGAGGACGCC CCGGTCAGGGAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACA TCCCGGTCATGGAGGACATCCCGGTCATGGAGGACGCCCCGGTCATGGAG GACA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM65_chr8_124301189_124377701	124302587	T T	TTATATAT others(223): Show TTATATATATATAAATATATATTCTTTTATATATATATAAATATATATTC TTTTATATATATATATATATTCTTTTATATATATAAATATATATTCTTTT ATATATATATAAATATATATTCTTTTATATATATATAAATATATATTCTT TTATATATATATAAATATATATTCTTTTATATATATATAAATATATATTC TTTTATATATATAAATATATATTCTTTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03516.hp1 HG03579.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0027 a0001c0001t0018g0003 a0001c0001t0018g0027	3	348	0.0086	230	c.11 others(243): Show c.11372_*11373insTATAAAAGAATATATATTTATATATATAAAAG AATATATATTTATATATATATAAAAGAATATATATTTATATATATATAAA AGAATATATATTTATATATATATAAAAGAATATATATTTATATATATATA AAAGAATATATATTTATATATATAAAAGAATATATATATATATATAAAAG AATATATATTTATATATATATAAAAGAATATATATTTATATATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3601		chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930756	C C	CGGGGTTA others(223): Show CGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTA GGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTG GGGTTAGGGAGACCAAGGGTCAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	466	0.0022	230	c.48 others(241): Show c.4834_*4835insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAG CCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCCTAA TCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4613		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69069079	C C	CGCAGTGG others(223): Show CGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAG CAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAGCAGGACGTCTG AGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAA GTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGAAGTGACCGCAGT GGGAGCAGGACTCTCTGAGTCCTAGGAAGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG03195.hp2 others(2): Show HG02809.hp1 HG02895.hp1 HG03195.hp2 HG03209.hp2 HG03486.hp2	a0004 a0004	a0004c0011 a0004c0031 a0004c0011 a0004c0031	a0004c0011t0012 a0004c0031t0012 a0004c0011t0012 a0004c0031t0012	a0004c0011t0012g0201 a0004c0011t0012g0203 a0004c0011t0012g0204 others(2): Show a0004c0011t0012g0201 a0004c0011t0012g0203 a0004c0011t0012g0204 a0004c0011t0012g0206 a0004c0031t0012g0202	5	404	0.0124	230	c.830 others(247): Show c.830-1351_830-1350insGCAGTGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCACTGGGAGCAGGACGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCA GGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGA GTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTCTCTGAGTCCTAGGAAG TG	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24			chr11	TogoVar
TPO_chr2_1408463_1548673	1532143	C C	CCCATCTG others(223): Show CCCATCTGTGTGCGACCTCCCCAAATCCTCCCAGTGTGTGCAACTTCCCT AAATCCCTCCAACTGTGTTTAGCTTCCCCAAATACCAACTGTGTGCAACC TCCTCACATCCCCACCACTCTGTGCAACCTCTCCAAGTCACCCCTACTCT CTGCAGACTCCCCAAATCCCCCCCCAATCTGTGCAACCTCCCCAAATCCC ACCCAATTGTGGGCAACCACACAAAATCCCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01192.hp2 others(4): Show HG00597.hp2 HG01081.hp1 HG01192.hp2 HG01978.hp2 NA18971.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0014	a0002c0002 a0004c0007 a0004c0032 others(2): Show a0002c0002 a0004c0007 a0004c0032 a0007c0021 a0014c0030	a0002c0002t0014 a0004c0007t0004 a0004c0007t0008 others(3): Show a0002c0002t0014 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0007c0021t0004 a0014c0030t0004	a0002c0002t0014g0008 a0004c0007t0004g0116 a0004c0007t0008g0049 others(4): Show a0002c0002t0014g0008 a0004c0007t0004g0116 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0007c0021t0004g0031 a0014c0030t0004g0115	7	130	0.0539	230	c.261 others(249): Show c.2619-8451_2619-8450insCCATCTGTGTGCGACCTCCCCAAATC CTCCCAGTGTGTGCAACTTCCCTAAATCCCTCCAACTGTGTTTAGCTTCC CCAAATACCAACTGTGTGCAACCTCCTCACATCCCCACCACTCTGTGCAA CCTCTCCAAGTCACCCCTACTCTCTGCAGACTCCCCAAATCCCCCCCCAA TCTGTGCAACCTCCCCAAATCCCACCCAATTGTGGGCAACCACACAAAAT CCCG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507587	G G	GTGTATAC others(223): Show GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTATGTATGTGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18945.hp2 NA20905.hp1 HG01123.hp2 NA18945.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205	3	388	0.0077	230	c.-23 others(247): Show c.-23+2460_-23+2461insTATACATATATACACATACATACATGTG TACACATGTATACGTATACACATGTGTACACATGTATACGTATACACATG TGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACACA TGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACA CATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATA CA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRANK1_chr3_36821819_36950054	36879825	T T	TATATAAA others(223): Show TATATAAATATATATAAATATATATAAATATGTAAATATATAAATATATA TAAATATATATATAAATATGTAAATATATAAATATATAAATATATGTAAA TATGTAAATATATAAATATATGTAAATATATAAATATATATAAATATATG TAAATATATAAATATATAAATATATGTAAATATATAAATATATAAATATA TGTAAATATATAAATATATAAATATATGTAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01934.hp2 HG02647.hp1 others(1): Show HG01168.hp2 HG01934.hp2 HG02647.hp1 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0313 a0001c0004t0003g0008 a0001c0004t0003g0015 others(1): Show a0001c0004t0001g0313 a0001c0004t0003g0008 a0001c0004t0003g0015 a0001c0004t0003g0020	4	330	0.0121	230	c.908 others(247): Show c.908-5530_908-5529insTTACATATATTTATATATTTATATATTT ACATATATTTATATATTTATATATTTACATATATTTATATATTTATATAT TTACATATATTTATATATATTTATATATTTACATATATTTATATATTTAC ATATTTACATATATTTATATATTTATATATTTACATATTTATATATATAT TTATATATATTTATATATTTACATATTTATATATATTTATATATATTTAT AT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRIML1_chr4_188134441_188152743	188152693	G G	GAGGGTGA others(223): Show GAGGGTGAGAAGGGGAGTGAGGAGTGGGGTGAGAAGCGGAGTGAGAGTGG GGGTAGAAGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGTGTGAGAGTGGGGTTGAGA AGGGGTGTGAGTGGGGTGAGAAGGGGAGTGAGAGTCGGGGTGAGAAGGGA GTGAGAGTAGGGTGAGAAGGGGAGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0162 a0001c0003t0001g0162	1	228	0.0044	230	c.53 others(241): Show c.5321_*5322insAGGGTGAGAAGGGGAGTGAGGAGTGGGGTGAGAA GCGGAGTGAGAGTGGGGGTAGAAGGAGTGAGAGTGGGGGTGAGAAGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGTGTG AGAGTGGGGTTGAGAAGGGGTGTGAGTGGGGTGAGAAGGGGAGTGAGAGT CGGGGTGAGAAGGGAGTGAGAGTAGGGTGAGAAGGGGAGTGAGAGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4951		chr4	TogoVar
TRPV3_chr17_3505502_3562812	3535254	T T	TCCTCCTC others(223): Show TCCTCCTCCCTCCCCCTCCTTCCTCCTCCTCCCTCTCCCTCCTCCCTCTC CCTCCTCCCTCTCCCTCCTCCCTCTCCCTCCTCCCTCTCCCTCCTCCCTC TCCCTCCTCCCTCCTCCCTTCCTCCCTCCTTCCTGCTTCCCTCTTCCTTT CTCCCTCCTCCCTTCCTTCCTCTCCCTCCTCCCTTCCTTCCTCCCTCATC CTTCCTGCTTCCTTCCTCCCTCCTCCCTCTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0047 a0006c0047	a0006c0047t0008 a0006c0047t0008	a0006c0047t0008g0396 a0006c0047t0008g0396	1	404	0.0025	230	c.784 others(245): Show c.784+318_784+319insGAGAGGGAGGAGGGAGGAAGGAAGCAGGAA GGATGAGGGAGGAAGGAAGGGAGGAGGGAGAGGAAGGAAGGGAGGAGGGA GAAAGGAAGAGGGAAGCAGGAAGGAGGGAGGAAGGGAGGAGGGAGGAGGG AGAGGGAGGAGGGAGAGGGAGGAGGGAGAGGGAGGAGGGAGAGGGAGGAG GGAGAGGGAGGAGGGAGAGGGAGGAGGAGGAAGGAGGGGGAGGGAGGAGG	TRPV3	ENSG00000167723.15	transcript	ENST00000576742.6	protein_coding	7/17			chr17	TogoVar
TSPAN9_chr12_3072379_3291559	3198730	C C	CCAGCACA others(223): Show CCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGCTCACCACCA GCACAGGTCACACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCA CAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACA GGTCACACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGT CACCACCAGCACAGGCCACCACCAGCACCAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA19030.hp1 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0086 a0001c0001t0009 a0001c0001t0086	a0001c0001t0009g0089 a0001c0001t0086g0282 a0001c0001t0009g0089 a0001c0001t0086g0282	2	288	0.0069	230	c.-17 others(247): Show c.-17-2439_-17-2438insCTCACCACCAGCACAGGTCACACCAGCA CAGCTCACCACCAGCACAGGTCACACCAGCACAGCTCACCACCAGCACAG GCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGC CACCACCAGCACAGGTCACACCAGCACAGGTCACCACCAGCACAGGCCAC CACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACCATCAGCAC AG	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(223): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG03139.hp1 HG01109.hp2 HG01891.hp1 HG03139.hp1	a0004 a0023 a0004 a0023	a0004c0005 a0023c0028 a0004c0005 a0023c0028	a0004c0005t0001 a0023c0028t0001 a0004c0005t0001 a0023c0028t0001	a0004c0005t0001g0020 a0023c0028t0001g0101 a0004c0005t0001g0020 a0023c0028t0001g0101	3	334	0.0090	230	c.657 others(245): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTTACTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TUBGCP2_chr10_133273635_133313872	133292457	T T	TCCCTCCG others(223): Show TCCCTCCGTGTCCCTGTGTCCCAGGGAGCCCTACCTGTATGGGAGAGGGC AGCACGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCTGTGTCCC CGTGTCCCGGGGAGCCCTACCTGTATGGGAGAGGGCAGCACGCGCCCTCC GTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCACGCGCCCTCCGTGTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	284	0.0070	230	c.121 others(245): Show c.1214+41_1214+42insGACACGGAGGGCGCGTGCTGCCCTCTCCCG TACAGGTAGGGCTCCCCGGGACACGGGGACACGGAGGGACATGGGGGACA CGGAGGGCGCGTGCTGCCCTCTCCCATACAGGTAGGGCTCCCCGGGACAC GGGGACACAGAGGGACACGGAGGGACATGGGGGACACGGACGGTGCGTGC TGCCCTCTCCCATACAGGTAGGGCTCCCTGGGACACAGGGACACGGAGGG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TWIST2_chr2_238843085_238915534	238870542	C C	CCCACACA others(223): Show CCCACACACACCACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACACCCCACACACCACACACCACA CACACCACACCCCACACACCCCACACACACCACACCCCACACACACCACA CACCCCCCACACACACCACACCCCATACACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0099	1	338	0.0030	230	c.35 others(249): Show c.35+21817_*35+21818insACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACCACACACCACACACACCACACCCCACACACCCCACACACACCACAC CCCACACACACCACACACCCCCCACACACACCACACCCCATACACACCAC ACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	320	0.0031	230	c.-38 others(241): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19091.hp2 NA19054.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0055 a0001c0001t0002g0002 a0001c0001t0002g0055	2	320	0.0063	230	c.-38 others(241): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG04184.hp2 NA20905.hp1 HG03669.hp2 HG04184.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0064 a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0064	3	320	0.0094	230	c.-38 others(241): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATGCGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	320	0.0031	230	c.-38 others(241): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATGCGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	320	0.0031	230	c.-38 others(241): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATG others(223): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	320	0.0031	230	c.-38 others(241): Show c.-3864_-3863insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATG others(223): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA19012.hp1 NA19090.hp1 NA18940.hp2 NA19012.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0016 a0001c0001t0002g0097 a0001c0001t0008g0098 a0001c0001t0002g0016 a0001c0001t0002g0097 a0001c0001t0008g0098	3	320	0.0094	230	c.-38 others(241): Show c.-3864_-3863insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACACATAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBOX5_chr20_3102573_3164865	3135585	T T	TAAGAACT others(223): Show TAAGAACTTAAATTCCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTGGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGC TTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0075 a0001c0001t0014g0075	1	384	0.0026	230	c.-41 others(249): Show c.-41-12180_-41-12179insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCCAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGAATTTAAGT TCTT	UBOX5	ENSG00000185019.17	transcript	ENST00000217173.7	protein_coding	1/4			chr20	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(223): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATATTTATATATTATATTTATGTAATATATATTTA TATATTATATTTATGTAATATATATTTATATATTATATTTATGTAATATA TAATATATATTTATATATTATATTTATGTAATATATAATATATATTTATA TATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0047 a0001c0011t0004g0047	1	204	0.0049	230	c.213 others(249): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTACATAAATATA ATATATAAATATATATTACATAAATATAATATATAAATATATATTACATA AATATAATATATAAATATATATTATATATTACATAAATATAATATATAAA TATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX3B_chrX_8459830_8471510	8466718	A A	AGGTGGTG others(223): Show AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGG GAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGGGGGAAGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01952.hp1 HG01975.hp1 others(2): Show HG00738.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 NA18949.hp1	a0000 a0006 a0000 a0006	a0000c0053 a0006c0007 a0006c0036 a0000c0053 a0006c0007 a0006c0036	a0000c0053t0015 a0006c0007t0012 a0006c0036t0002 a0000c0053t0015 a0006c0007t0012 a0006c0036t0002	a0000c0053t0015g0022 a0006c0007t0012g0013 a0006c0036t0002g0023 a0000c0053t0015g0022 a0006c0007t0012g0013 a0006c0036t0002g0023	5	271	0.0185	230	c.33 others(239): Show c.335_*336insGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTG GTGTGTGGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		209		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466767	A A	AGGAAGAG others(223): Show AGGAAGAGGTGGTGTGTGGGGGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	271	0.0037	230	c.38 others(239): Show c.384_*385insGGAAGAGGTGGTGTGTGGGGGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG GGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		258		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466846	A A	AGGGAGGG others(223): Show AGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0001 a0020c0022t0001	a0020c0022t0001g0007 a0020c0022t0001g0007	1	271	0.0037	230	c.46 others(239): Show c.463_*464insGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGG AGGGAGGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		337		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895634	C C	CTCCTCCT others(223): Show CTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCCCCCCCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCCTCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0019 a0004c0003t0001g0019	1	274	0.0037	230	c.200 others(247): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTC CT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47			chr3	TogoVar
WDPCP_chr2_63114559_63593477	63575467	G G	GCAGTATA others(223): Show GCAGTATATACAGTGTATACACTGTATATACTGTATATACTGTGTATACA GTGTATACACTGTATATACAGTATATACAGTGTATACACTGTATATACAG TATATACAGTGTATACACTGTATATACAGTATATACTGTATATACACTGT ATATACAGTATATACAGTATATACACTGTATATACAGTATATACAGTATA TACACTGTATATACAGTATATACAGTATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	216	0.0046	230	c.75+ others(247): Show c.75+12729_75+12730insTATATACTGTATATACTGTATATACAGT GTATATACTGTATATACTGTATATACAGTGTATATACTGTATATACTGTA TATACAGTGTATATACAGTATATACTGTATATACAGTGTATACACTGTAT ATACTGTATATACAGTGTATACACTGTATATACTGTATATACAGTGTATA CACTGTATACACAGTATATACAGTATATACAGTGTATACACTGTATATAC TG	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575467	G G	GCAGTATA others(223): Show GCAGTATATACAGTGTATACACTGTATATACTGTATATACTGTGTATACA GTGTATACACTGTATATACAGTATATACAGTGTATACACTGTATATACAG TATATACTGTATATACACTGTATATACAGTATATACAGTATATACACTGT ATATACAGTATATACAGTATATACACTGTATATACAGTATATACAGTATA TACAGTATATACAGTGTATATATAGTATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01517.hp2 HG03491.hp1 HG00323.hp1 HG01517.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0021 a0001c0001t0001 a0001c0001t0014 a0001c0001t0021	a0001c0001t0001g0124 a0001c0001t0014g0130 a0001c0001t0021g0125 a0001c0001t0001g0124 a0001c0001t0014g0130 a0001c0001t0021g0125	3	216	0.0139	230	c.75+ others(247): Show c.75+12729_75+12730insTATATACTATATATACACTGTATATACT GTATATACTGTATATACTGTATATACAGTGTATATACTGTATATACTGTA TATACAGTGTATATACTGTATATACTGTATATACAGTGTATATACAGTAT ATACTGTATATACAGTGTATACACTGTATATACTGTATATACAGTGTATA CACTGTATACACAGTATATACAGTATATACAGTGTATACACTGTATATAC TG	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATAC others(223): Show GTGTATACACTGTATATACTGTATATACTGTGTATACAGTGTATACACTG TATATACAGTATATACAGTGTATACACTGTATATACAGTATATACTGTAT ATACACTGTATATACAGTATATACAGTATATACACTGTATATACAGTATA TACAGTATATACACTGTATATACAGTATATACAGTATATACAGTATATAC AGTGTATATACAGTATATACAGTATATACAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	216	0.0046	230	c.75+ others(247): Show c.75+12717_75+12718insGTGTATATACTGTATATACTGTATATAC ACTGTATATACTGTATATACTGTATATACTGTATATACAGTGTATATACT GTATATACTGTATATACAGTGTATATACTGTATATACTGTATATACAGTG TATATACAGTATATACTGTATATACAGTGTATACACTGTATATACTGTAT ATACAGTGTATACACTGTATACACAGTATATACAGTATATACAGTGTATA CA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
YAE1_chr7_39561404_39577881	39575537	G G	GGAGAGAG others(223): Show GGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	450	0.0022	230	c.28 others(241): Show c.2831_*2832insGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGA	YAE1	ENSG00000241127.8	transcript	ENST00000223273.7	protein_coding		2657		chr7	TogoVar
ZC3H12B_chrX_65029826_65512887	65450613	G G	GTATATAT others(223): Show GTATATATATATACATGTATACATATGTATACATGTATATATATACATAT GTATACATGTATATATGTATATATGTATAAATATACATATGTATATATAT GTATATATGTATACATATGTATATATACATATGTATATATATGTATATAT GTATACATATGTATATATACATATGTATATATGCATATATACATATGTGT ATATATATGTATATATGTATACATATGTATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0021 a0001c0001t0003g0022	2	165	0.0121	230	c.-15 others(251): Show c.-156-38029_-156-38028insTATATATACATGTATACATATGTA TACATGTATATATATACATATGTATACATGTATATATGTATATATGTATA AATATACATATGTATATATATGTATATATGTATACATATGTATATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATGCATATATACATATGTGTATATATATGTATATATGTATACATATGTA TATATA	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(223): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGG GAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGA GAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	448	0.0022	230	c.-41 others(241): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGA GAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGG GAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA CCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZFPM1_chr16_88448280_88542031	88460982	G G	GGAGGGGC others(223): Show GGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGG TGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGG CGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAG GGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACC CAGGGATGGGGCGGGAGACCTGGTGAGGACC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0301 a0002c0002t0011g0301	1	318	0.0031	230	c.40+ others(245): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGATGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGT GAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCT GGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCG GGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88460984	A A	AGGGGCGG others(223): Show AGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTG AGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGG CCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGG AGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGA GGGGCGGGAGGCCTGGTGATGACCGAGGGGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0098 a0004c0004t0006g0098	1	318	0.0031	230	c.40+ others(245): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGAGGACCGAGGG GTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGG ACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTG AGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGG CCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88461004	G G	GGACCGAG others(223): Show GGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGA GGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGAC CAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTG GTGAGGACCGAGGGGCGGGAGGCCTGGTGAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG02071.hp2 others(7): Show HG00140.hp1 HG00609.hp2 HG02071.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp1	a0002 a0011 a0019 others(2): Show a0002 a0011 a0019 a0035 a0037	a0002c0002 a0002c0009 a0002c0044 others(4): Show a0002c0002 a0002c0009 a0002c0044 a0011c0041 a0019c0076 a0035c0048 a0037c0042	a0002c0002t0011 a0002c0002t0021 a0002c0009t0020 others(5): Show a0002c0002t0011 a0002c0002t0021 a0002c0009t0020 a0002c0044t0020 a0011c0041t0050 a0019c0076t0022 a0035c0048t0056 a0037c0042t0005	a0002c0002t0011g0277 a0002c0002t0011g0278 a0002c0002t0021g0250 others(7): Show a0002c0002t0011g0277 a0002c0002t0011g0278 a0002c0002t0021g0250 a0002c0002t0021g0276 a0002c0009t0020g0184 a0002c0044t0020g0181 a0011c0041t0050g0183 a0019c0076t0022g0182 a0035c0048t0056g0279 a0037c0042t0005g0091	10	318	0.0315	230	c.40+ others(245): Show c.40+7336_40+7337insCGGGGCGGGAGGCCTGGTGATGACCGAGGG GCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGT GAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCT GGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCG GGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88461046	C C	CGGGGCGG others(223): Show CGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTG AGGACCGAGGGGTGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGAGG CCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGG AGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGA GGGGCGGGAGGCCTGGTGATGACCGAGGGGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0007 a0007c0025t0007	a0007c0025t0007g0126 a0007c0025t0007g0126	1	318	0.0031	230	c.40+ others(245): Show c.40+7371_40+7372insGCGGGAGGCCTGGTGAGGACCGAGGGGTGG GGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGATG ACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTG AGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAG ACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGTGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(223): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGAAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	228	0.0044	230	c.103 others(249): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTAC CCTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTTCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCTCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCC CCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(223): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGGGAGGGGAGAGGAGGAGAGGGGAGGGGAGGGGAGGGGAGA GGAGGAGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02970.hp2 HG01891.hp2 HG02622.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0047 a0001c0001t0002g0066 a0001c0001t0009g0003 a0001c0001t0002g0047 a0001c0001t0002g0066 a0001c0001t0009g0003	3	228	0.0132	230	c.103 others(249): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCT CCTCCTCTCCCCTCCCCTCCCCTCCCCTCTCCTCCTCTCCCCTCCCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTACCCTCTCCTCCTCTAC CCTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCTCTCCCCTCTCCTCCCCTCTCCTCCCCTCCCCTCC CCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(223): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGAAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	228	0.0044	230	c.103 others(249): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTTC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTAC CCTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCTCTCCCCCCTCCTCCCCTCTCCTCCCCTCCCCTCC CCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(223): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGAGG GGAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00673.hp1 others(25): Show HG00558.hp1 HG00597.hp1 HG00673.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG02074.hp1 HG02109.hp2 HG02258.hp1 HG02723.hp2 HG02897.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG04204.hp2 NA18942.hp2 NA18964.hp1 NA18966.hp2 NA18971.hp2 NA18983.hp1 NA18998.hp1 NA19056.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005	a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0061 others(25): Show a0001c0001t0001g0027 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0002g0009 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0003g0070 a0001c0001t0003g0074 a0001c0001t0003g0082 a0001c0001t0004g0093 a0002c0002t0002g0156 a0002c0002t0004g0197 a0002c0002t0005g0011	28	228	0.1228	230	c.103 others(249): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTAC CCTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCC CCTCCCCTCTCCTCCTCTCCCCCCTCCTCCCCTCTCCTCCCCTCCCCTCC CCTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF512B_chr20_63951704_63974930	63964922	T T	TTCCCCAA others(223): Show TTCCCCAACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCC CCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGA CCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGACCTG GGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCGACCTGGGAC GAGCCCCCATACCTTTTCTCACCACTGTTCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0151 a0001c0002t0005g0151	1	356	0.0028	230	c.103 others(247): Show c.1035-207_1035-206insGGAACAGTGGTGAGAAAAGGTATGGGGG CTCGTCCCAGGTCGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCG TCCCAGGTCGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCC AGGTCGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCCAGGT CGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCCAGGTTGGG GA	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63965309	C C	CTGTTCCT others(223): Show CTGTTCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGT TCCTCCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCT CCCCGACCTGGGACGAGCCCCCATACCTTTTCTTACCACTGTTCCTCCCC GACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCTCCCCAACC TGGGACGAGCCCCCATACCTTTTCTTACCAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0164 a0001c0002t0005g0164	1	356	0.0028	230	c.103 others(247): Show c.1035-594_1035-593insCTGGTAAGAAAAGGTATGGGGGCTCGTC CCAGGTTGGGGAGGAACAGTGGTGAGAAAAGGTATGGGGGCTCGTCCCAG GTCGGGGAGGAACAGTGGTAAGAAAAGGTATGGGGGCTCGTCCCAGGTCG GGGAGGAACAGTGGTAAGAAAAGGTATGGGGGCTCGTCCCAGGTCGGGGA GGAACAGTGGTAAGAAAAGGTATGGGGGCTCGTCCCAGGTCGGGGAGGAA CA	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF543_chr19_57315472_57335770	57319403	C C	CATATATA others(223): Show CATATATATACATATATACACATACATACATATATATACATATATACACA TACATACATATATACATATATATACACATACATACATATATATACATATA TATACACATACATACATATATATACATATATATACACATACATATATATA CATATATATACACATACATACATATATATACATATATATACACATACATA CATATATATACATATATACATATACATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	460	0.0022	230	c.-14 others(241): Show c.-1451_-1450insATATATATACATATATACACATACATACATATAT ATACATATATACACATACATACATATATACATATATATACACATACATAC ATATATATACATATATATACACATACATACATATATATACATATATATAC ACATACATATATATACATATATATACACATACATACATATATATACATAT ATATACACATACATACATATATATACATATATACATATACATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1068		chr19	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGGAG others(223): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	314	0.0032	230	c.45- others(245): Show c.45-8999_45-8998insTTTCTTTTCTTTTCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ZNF652_chr17_49284206_49367250	49348479	A A	AAAAAGAA others(223): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0197 a0001c0001t0012g0197	1	382	0.0026	230	c.-25 others(251): Show c.-259+13429_-259+13430insCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTT	ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	1/5			chr17	TogoVar
ZNF681_chr19_23734195_23763891	23761922	T T	TCCTTCCT others(223): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	394	0.0025	230	c.-31 others(241): Show c.-3174_-3173insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3032		chr19	TogoVar

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