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
MCTP2_chr15_94226561_94488952	94243452	T T	TATATGCG others(277): Show TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCGTA TGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATGCG TATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACACA TACGTATGCGTACATGCGTATGCGTATATGCGTATGTACACACATACGTA TGCGTACATACGTATGCGTATATGCGTATGTACAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0073 a0002c0003t0005g0073	1	276	0.0036	284	c.-66 others(303): Show c.-66+11789_-66+11790insTATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTATATGCGTATGTACACA CATACGTATGCGTATATGCGTATGTACACACATACGTATGCGTATATGCG TATGTACACACATACGTATGCGTATATGCGTATGTACACACATACGTATG CGTATATGCGTATGTACACACATACGTATGCGTACATGCGTATGCGTATA TGCGTATGTACACACATACGTATGCGTACATACGTATGCGTATATGCGTA TGTACACA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
METTL22_chr16_8616698_8654654	8640836	G G	GGATGGAT others(277): Show GGATGGATAGAAGGAAGGGCCGGAAGATGGGCAGGTGGGTGGGTGGGTGG TTGGGTGGGTGGGTAGATGGATGGATGGATAGAAGGAAGGGCCGGAAGAT GGGCAGGTGGGTGGGTGGGTGGTTGGGTGGGTGGGTAGATGGATGGATGG ATAGAAGGAAGGGCCGGAAGATGGGCAGGTGGGTGGGTGGGTGGGTGGGT GGGTGGGTGGGTAGATGGATGGATGGATAGAAGGAAGGGCCGGAAGATGG GCAGGTGGGTGGGTGGGTGGGTGGGTGGGTGGGTA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	390	0.0026	284	c.773 others(299): Show c.773-288_773-287insAGAAGGAAGGGCCGGAAGATGGGCAGGTGG GTGGGTGGGTGGTTGGGTGGGTGGGTAGATGGATGGATGGATAGAAGGAA GGGCCGGAAGATGGGCAGGTGGGTGGGTGGGTGGTTGGGTGGGTGGGTAG ATGGATGGATGGATAGAAGGAAGGGCCGGAAGATGGGCAGGTGGGTGGGT GGGTGGGTGGGTGGGTGGGTGGGTAGATGGATGGATGGATAGAAGGAAGG GCCGGAAGATGGGCAGGTGGGTGGGTGGGTGGGTGGGTGGGTGGGTAGAT GGAT	METTL22	ENSG00000067365.15	transcript	ENST00000381920.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGAGG others(277): Show GGGGGAGGAAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGA GTGAGGAGGGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAG GAAGAGAAGGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAG GAGAAGGGTGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGA GAGAAGAGAGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAG GGAGAGAAGGGAGAGGAGGAACAGGAGGAAGAGGA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0182 a0002c0003t0002g0182	1	280	0.0036	284	c.641 others(299): Show c.641+260_641+261insTCCTCTTCCTCCTGTTCCTCCTCTCCCTTC TCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCCTTCTCTCTC TTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTCCTCACCC TTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCCTTCCTTC TCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCTTCCCCTC CTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCTTCCT CCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(277): Show TTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTCCATTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCCTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0110 a0004c0004t0001g0110	1	181	0.0055	284	c.107 others(303): Show c.1073+5154_1073+5155insCCTTTCCTTTCCTTTCCTTTCTTTCC ATTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCTTCCTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCCTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGAT others(277): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGC GATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGAT GGTGGTGGTAGTGGTAGTGCTGCTGGTGGTAGTGCTGCTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA21309.hp2 HG03130.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0024 a0001c0001t0014 a0001c0001t0024	a0001c0001t0014g0169 a0001c0001t0024g0240 a0001c0001t0014g0169 a0001c0001t0024g0240	2	384	0.0052	284	c.160 others(301): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACCAGCAGCACTACCACTAC CACCACCATCATGGTCACCACCATCATTACCACTACCACCACGACTACCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCACCAC CACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(277): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGAT GGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01346.hp2 homoSapiens_chm13v2.hp1 HG01168.hp2 HG01346.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0353 a0001c0001t0009g0198 a0001c0001t0009g0203 a0001c0001t0005g0353 a0001c0001t0009g0198 a0001c0001t0009g0203	3	384	0.0078	284	c.160 others(301): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACTACTGCCACCGCCGCCACCATCACCACCACCACCATCGCCGCCAC CACCACCACCACCACCATCACCACCATCACCACCATCACCACCATCACCA CCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(277): Show GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGAT GGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGAT GGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03688.hp2 HG01346.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0359 a0001c0001t0004g0194 a0001c0001t0001g0359 a0001c0001t0004g0194	2	384	0.0052	284	c.160 others(301): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACTA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCACCAC CACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCATCACCA CCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(277): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGGTGGTGGCGGTGGTGGCGATGGTGGTGGTGGTGATGGTGATGGTGG TGGTGGTGGTGGCGGCGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGT GGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGC TGCTGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0146 a0001c0001t0002g0147	2	384	0.0052	284	c.160 others(301): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCACCACCACCACCATCGCCGCCACC ACCACCACCACCATCACCATCACCACCACCACCATCGCCACCACCGCCAC CACCACCACCACCATCACCATCACCACCACCACCATCACCACCACCACCA CCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYO7A_chr11_77123246_77220241	77192977	G G	GCGATGGT others(277): Show GCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGATGGTGGG GAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGAT GGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGG TGATGGTGGAGGTAGTGATGGTGTTGGTGTTGGTGGAGGTAGTGATGGTG TTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGT GTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	356	0.0028	284	c.415 others(301): Show c.4152+699_4152+700insCGATGGTGTTGTTGGTGATGGTGGAGGT GGTGATGGTGTTGATGGTGGGGAGGTAGTGATGGTGTTGGTGATGGTGGA GGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGG TGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTG TTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGT GATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGG TGTTGT	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48			chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667840	C C	CCTTACCC others(277): Show CCTTACCCACTACTGGGTCCCTCCACCCTCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC TACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTC CTTACCGACCCTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	378	0.0027	284	c.148 others(303): Show c.1480-3091_1480-3090insAGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGG GTCGGTAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGC CACAGGGTAGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGACCCAGTAG TGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCGGT others(277): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCA GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	384	0.0026	284	c.-41 others(295): Show c.-4100_-4099insCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NDUFB1_chr14_92111123_92126706	92120589	G G	GTCCGCCC others(277): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCAT CACGCCCGGCTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGAGTGCA GTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCA CGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCACCATG TTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	442	0.0023	284	c.-6+ others(299): Show c.-6+1052_-6+1053insTCACGAGGTCAGGAGATCAAGACCATCCTG GCTAACATGGTGAAACCCTGTGTCTACTAAAAATACAAAAAAAATTAGCT GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGC GCCACTGCACTCCAGCCTGGGCCACAGAGAGAAAAAAAAAAAAAAGCCGG GCGTGATGGCTCTCGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGG CGGA	NDUFB1	ENSG00000183648.11	transcript	ENST00000605997.6	protein_coding	1/2			chr14	TogoVar
NDUFB1_chr14_92111123_92126706	92120607	C C	CCCAAAGT others(277): Show CCCAAAGTGCTGGGATTACAGGCGAGAGCCATCACGCCCGGCTTTTTTTT TTTTTTTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTT TTGTATTTTTAGTAGACACAGGGTTTCACCATGTTAGCCAGGATGGTCTT GATCTCCTGACCTCGTGATCCGCCCGCCTAGGCCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	442	0.0023	284	c.-6+ others(299): Show c.-6+1034_-6+1035insAGGCCTAGGCGGGCGGATCACGAGGTCAGG AGATCAAGACCATCCTGGCTAACATGGTGAAACCCTGTGTCTACTAAAAA TACAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCCACAGAGAGAA AAAAAAAAAAAAAGCCGGGCGTGATGGCTCTCGCCTGTAATCCCAGCACT TTGG	NDUFB1	ENSG00000183648.11	transcript	ENST00000605997.6	protein_coding	1/2			chr14	TogoVar
NDUFC1_chr4_139284931_139307477	139289144	A A	AAAAAGGC others(277): Show AAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACT GCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	376	0.0027	284	c.96 others(293): Show c.968_*969insGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCA GTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC TCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTT	NDUFC1	ENSG00000109390.13	transcript	ENST00000394223.2	protein_coding		786		chr4	TogoVar
NEU4_chr2_241804193_241822413	241820103	G G	GGCTCATG others(277): Show GGCTCATGGCCCGTGTGTAGGTTGTGTGCTGGGTGCATCCTGTCATGCGT GTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTTCTGGGTGCATCCTCT CATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGTGCTGGGTGC ATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCATGTGC TGGGTGCATCCTCTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGT CGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	284	c.30 others(295): Show c.3055_*3056insGCTCATGGCCCGTGTGTAGGTTGTGTGCTGGGTG CATCCTGTCATGCGTGTGTCCTGCCTCGTGGTGTGTGTGTAGGTTGTGTT CTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGG TCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGGCTCGTGGCCCGT GTGTAGGTCATGTGCTGGGTGCATCCTCTCATGTGTGTGTCCTGGCTCGT GGCCCGTGTGTAGGTCGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2691		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79505757	G G	GCTGGAGG others(277): Show GCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGG AGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTG TGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGAC TGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGC AGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGG AAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0003 a0019c0051t0003	a0019c0051t0003g0149 a0019c0051t0003g0149	1	322	0.0031	284	c.278 others(305): Show c.2782+18820_2782+18821insCTGGAGGCCCTTGGGTGAGGGAAG AGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTG AGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAGGCCC TTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTG GAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGT GGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGG AGGAGGTGGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9			chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656289	C C	CAGCCCAC others(277): Show CAGCCCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCCTC CCGCAGCGCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTC CTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCAC CTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGC CCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCA GCCCACCTTCTCCTCGAAGCCCACCTTCTCTCTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01515.hp1 HG01243.hp1 HG01515.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0002 a0001c0001t0012 a0002c0002t0002	a0001c0001t0012g0195 a0002c0002t0002g0197 a0001c0001t0012g0195 a0002c0002t0002g0197	2	366	0.0055	284	c.-16 others(305): Show c.-163-18247_-163-18246insTGAAGCCCACCTCTTCCCTGAAGC CCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTTCTCTCTGA AGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTC TCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACC TCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCTCTCTGAAGCCC ACCTCCTCCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656289	C C	CAGCCCAC others(277): Show CAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTC CCACAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTC CTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCAC CTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGC CCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCA GCCCACCTTCTCCTCGAAGCCCACCTTCTCTCTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG00140.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0269 a0001c0001t0003g0241 a0001c0001t0003g0269	2	366	0.0055	284	c.-16 others(305): Show c.-163-18247_-163-18246insTGAAGCCCACCTTCTCTCTGAAGC CCACCTCCTCCCACAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGA AGCCCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCC TGAAGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTC TCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACC TCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCTCTCTGAAGCCC ACCTCCTCCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656359	A A	AAGCCCAC others(277): Show AAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCT CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTC TTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGA AGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0083 a0003c0003t0083	a0003c0003t0083g0273 a0003c0003t0083g0273	1	366	0.0027	284	c.-16 others(305): Show c.-163-18183_-163-18182insCTTCCCTGAAGCCCACCTTCTCCT GCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCT CTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACC TCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCC ACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAG CCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTG CAGCCCACCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993491	C C	CTCCCCCT others(277): Show CTCCCCCTCTCTCCCCCTCCCTCCCCCCTCCCTCCCCCCCTCCCTCCCCC CTCCCTCCCCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCTC CCCCTCCCCCCTCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0023 a0023	a0023c0050 a0023c0050	a0023c0050t0008 a0023c0050t0008	a0023c0050t0008g0046 a0023c0050t0008g0046	1	350	0.0029	284	c.55 others(295): Show c.5578_*5579insTCCCCCTCTCTCCCCCTCCCTCCCCCCTCCCTCC CCCCCTCCCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCCCCCTCCCTCC CCCTCCCCCTCCCTCCCCCTCCCCCCTCCTCCCCCCTCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4863		chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(277): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	356	0.0028	284	c.91+ others(297): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOL4_chr18_33846100_34229913	33953227	T T	TTTGTGTA others(277): Show TTTGTGTAGGATATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01175.hp2 others(4): Show HG00280.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG02155.hp1 HG03098.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0054 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0002g0095	7	168	0.0417	284	c.142 others(303): Show c.1428+4098_1428+4099insCTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG AGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATATC CTACACAA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	8/10			chr18	TogoVar
NPHP4_chr1_5857811_5997425	5874228	T T	TAAAGAAA others(277): Show TAAAGAAAATTAGGTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0010 a0010	a0010c0034 a0010c0034	a0010c0034t0001 a0010c0034t0001	a0010c0034t0001g0071 a0010c0034t0001g0071	1	208	0.0048	284	c.323 others(301): Show c.3231+242_3231+243insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CAGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAACCTAATT TTCTTT	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	22/29			chr1	TogoVar
NR0B1_chrX_30299206_30314390	30310831	T T	TTCCTTCC others(277): Show TTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	322	0.0031	284	c.-14 others(295): Show c.-1469_-1468insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGGA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1442		chrX	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(277): Show ATATATAATATATATTATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATTATATATAAAGTATATATATAATATATATTATATA TATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0071 a0001c0002t0001g0071	1	308	0.0033	284	c.730 others(301): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATAATATATAT TATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(277): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTTCCCCTCC CCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCC CCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	326	0.0031	284	c.433 others(301): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGG GAGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAAGGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NWD1_chr19_16714847_16822953	16738829	T T	TATACATT others(277): Show TATACATTATATATAATATATAATACATAATGTATACATTATATATAATA TATAATACATTATATATAATATATAATACATTATATATAATATATAATAC ATTATATATAATATATAATACATTATATATAATATATAATACATTATATA TAATATATAATACATTATATATTATATATAATACATTATATATAATATAT AATACATTATATATTATATATAATACATTATATATAATATATAATACATT ATATATTATATATAATACATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0029 a0029	a0029c0047 a0029c0047	a0029c0047t0001 a0029c0047t0001	a0029c0047t0001g0147 a0029c0047t0001g0147	1	300	0.0033	284	c.198 others(301): Show c.198+2092_198+2093insAATATATAATACATAATGTATACATTAT ATATAATATATAATACATTATATATAATATATAATACATTATATATAATA TATAATACATTATATATAATATATAATACATTATATATAATATATAATAC ATTATATATAATATATAATACATTATATATTATATATAATACATTATATA TAATATATAATACATTATATATTATATATAATACATTATATATAATATAT AATACATTATATATTATATATAATACATTATATATAATATATAATACATT ATATAT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(277): Show TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCC CCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0164 a0001c0001t0020g0164	1	242	0.0041	284	c.360 others(303): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGGAGAGTA GGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949090	G G	GGCCTCCT others(277): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTACTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTACTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	242	0.0041	284	c.360 others(303): Show c.360+30228_360+30229insAGGGGGAGAGGAGGAGGCCGCGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGTAGGAGGCCGCGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGTAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OLFM1_chr9_135082668_135126180	135119058	A A	ATCTTTGG others(277): Show ATCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCACCGGGCCTTTGGA AGTGCTCACCGGGTCTTTGGAGTACTCGTTGTGTCTTTGGAGTGCTCACC GAGTCTTTGGAGTACTTACCGGGTCTTTGGAGTACTCACTGGGTCTTTGG AGTGCTCGCTGTGTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCACT GGGTCTTTGGAAGTGCTCACTTGGTCTTTGGAGTACTCACTGGGTCTTTG GAGTACTCACTGGATCTTTGGAAGTGCTCACGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00642.hp2 others(24): Show HG00099.hp1 HG00099.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01952.hp2 HG02602.hp1 HG02970.hp2 HG03491.hp2 HG03492.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0028 others(1): Show a0001c0001 a0001c0002 a0001c0028 a0002c0013	a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 others(3): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0002t0006 a0001c0028t0006 a0002c0013t0006	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0019 others(21): Show a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0282 a0001c0001t0006g0303 a0001c0001t0006g0309 a0001c0001t0010g0086 a0001c0001t0010g0092 a0001c0001t0010g0117 a0001c0001t0010g0197 a0001c0001t0010g0334 a0001c0001t0013g0033 a0001c0001t0013g0152 a0001c0001t0013g0160 a0001c0002t0006g0038 a0001c0002t0006g0040 a0001c0002t0006g0226 a0001c0028t0006g0011 a0002c0013t0006g0147	27	360	0.0750	284	c.784 others(299): Show c.784-437_784-154dupAGTGCTCACTGGGTCTTTGGAGTGCTCACC GGGCCTTTGGAAGTGCTCACCGGGTCTTTGGAGTACTCGTTGTGTCTTTG GAGTGCTCACCGAGTCTTTGGAGTACTTACCGGGTCTTTGGAGTACTCAC TGGGTCTTTGGAGTGCTCGCTGTGTCTTTGGAGTACTCACTGGGTCTTTG GAGTGCTCACTGGGTCTTTGGAAGTGCTCACTTGGTCTTTGGAGTACTCA CTGGGTCTTTGGAGTACTCACTGGATCTTTGGAAGTGCTCACGGGGTCTT TGGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OR13D1_chr9_104689518_104700462	104696103	A A	AAAAGAAA others(277): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0000 a0001c0004t0001g0000	1	396	0.0025	284	c.64 others(293): Show c.641_*642insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	OR13D1	ENSG00000179055.8	transcript	ENST00000641530.1	protein_coding		642		chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(277): Show CTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCT TTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTG CTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0024	1	366	0.0027	284	c.487 others(301): Show c.487+1441_487+1442insCTTTCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCT TTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCT TGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(277): Show CTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTG CTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCT TTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0030 a0001c0003t0008g0030	1	366	0.0027	284	c.487 others(301): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCT TTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTT CTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCT TGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(277): Show CTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTG CTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0026 a0001c0003t0003g0026	1	366	0.0027	284	c.487 others(301): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCT TGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCT TGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(277): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTG CTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCT TTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	1	366	0.0027	284	c.487 others(301): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCT TTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTT CTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTG CTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCT TGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOF_chr2_26452203_26483124	26476489	C C	CCCTTCCC others(277): Show CCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCACCCCTTCCCCCACCTCCTT CCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCACACCTCCTTC CCACCCCTTCCACCTCCCCACCCCTTCCCCCACCCCTATCCCCCACCTCC TTCCCCCATCCCCTCCCCCACCCCCTTCCCCCACTCCCTTCCCCCACCCC TTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0159 a0001c0008t0001g0159	1	330	0.0030	284	c.436 others(299): Show c.436-173_436-172insAGGTGGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGAGTGGGGGAAGGGGGTGGGGGAGGGGATGG GGGAAGGAGGTGGGGGATAGGGGTGGGGGAAGGGGTGGGGAGGTGGAAGG GGTGGGAAGGAGGTGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGG TGGGGAAGGAGGTGGGGGAAGGGGTGGGGAAGGGGTGGGGAAGGAGGTGG GGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGG AAGG	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	5/28			chr2	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(277): Show TCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCT CCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	308	0.0033	284	c.226 others(303): Show c.2262+7531_2262+7532insCTCCTCCCCTCCCCCTCCTCCCCCTC CTCCCCTCCCCCTCCTCCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCT CCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCT CCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(277): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0016 a0002c0015t0016	a0002c0015t0016g0035 a0002c0015t0016g0035	1	156	0.0064	284	c.196 others(305): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(277): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	156	0.0064	284	c.196 others(305): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARD3_chr10_34104561_34820296	34323332	C C	CAAAAAAA others(277): Show CAAAAAAAGGAAACCACACTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGGGGCTGAGGCAGGAGAATGGCGTGAACC CGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACTCCCGCC TGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp1 HG03579.hp2 HG01243.hp2 HG03516.hp1 HG03579.hp2	a0001 a0005 a0001 a0005	a0001c0020 a0005c0016 a0005c0017 a0001c0020 a0005c0016 a0005c0017	a0001c0020t0002 a0005c0016t0001 a0005c0017t0001 a0001c0020t0002 a0005c0016t0001 a0005c0017t0001	a0001c0020t0002g0001 a0005c0016t0001g0052 a0005c0017t0001g0053 a0001c0020t0002g0001 a0005c0016t0001g0052 a0005c0017t0001g0053	3	100	0.0300	284	c.283 others(303): Show c.2834-5995_2834-5994insTTTTTTTTTGAGACGGAGTCTCGTTC TGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTC CGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCCCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAGTGTGGTTTC CTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	19/24			chr10	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(277): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	284	c.-26 others(295): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(277): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	436	0.0023	284	c.-26 others(295): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(277): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	436	0.0046	284	c.-26 others(295): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCGF3_chr4_700832_775089	747436	G G	GGGGTCGC others(277): Show GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCACTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	366	0.0027	284	c.462 others(301): Show c.462+2751_462+2752insTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCACTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE7B_chr6_135846701_136200574	136045901	T T	TAGAATTT others(277): Show TAGAATTTGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19009.hp1 NA19079.hp2 HG02155.hp2 NA19009.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0004g0134 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0004g0134	3	142	0.0211	284	c.83- others(301): Show c.83-62823_83-62822insGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAATTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PERM1_chr1_970198_987093	977844	C C	CGCGCAAC others(277): Show CGCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCACCCCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCCA CCAACCCCGGGAACCGCCTCCACTCCCCCCACCAACCCGGGAACCGCCTC CCACTCCCCCACCAACCCAGGGAACCGCCTGCCCCCGCCACCCAACCCCC GGGAACCCGCCTCCCACTCCCCCCCGCAACCCGGGAACCGCCTCCCACTC CCCCCGCAACCCGGGAACCGCCTCCCACTCCCCCG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	408	0.0025	284	c.214 others(303): Show c.2149+1036_2149+1037insCGGGGGAGTGGGAGGCGGTTCCCGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGTTGCGGGGGGGAGTGGGAGG CGGGTTCCCGGGGGTTGGGTGGCGGGGGCAGGCGGTTCCCTGGGTTGGTG GGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGAGGCGGTTCC CGGGGTTGGTGGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGA GTGGGAGGCGGTTCCCGGGGGTGGTGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGCGC	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX10_chr1_2398974_2417564	2401350	T T	TCCCTCCC others(277): Show TCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCT CCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTC CCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCCCTCC TCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCC TTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCC TCCTTCCTCCCTCCTCCTCCCTCCTTCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	358	0.0028	284	c.44 others(295): Show c.4415_*4416insGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGAAGG AGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGA AGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGAGGAGGGGG AGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAAGGGAGGAG GGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGAAG GAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2623		chr1	TogoVar
PJA2_chr5_109329722_109414974	109340652	C C	CTCACCTC others(277): Show CTCACCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCCCTCTC TCCCTCTCCCTCTCCCTCTCCCCTCCTCCCCTCTCCCCTCTCCCCTCCCT CTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCC TCTCCCTCTCTCCTCTCCCTCTCCCCCTCTCCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0021 a0006c0012t0021	a0006c0012t0021g0074 a0006c0012t0021g0074	1	346	0.0029	284	c.200 others(303): Show c.2002-3297_2002-3296insAGAGGGAGGGAGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGGGAGAGGGAGAGGAG AGAGGGAGAGGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGG GAGAGGGAGAGGGAGGGGAGAGGGGAGAGGGGAGGAGGGGAGAGGGAGAG GGAGAGGGAGAGAGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGTGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKP3_chr11_389209_409908	401785	G G	GGCCCCGC others(277): Show GGCCCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCC CCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACCCGCT CACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCC CCGACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCGCTCACACCCG GCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCC GCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	216	0.0046	284	c.173 others(303): Show c.1737+1080_1737+1081insGCCCCGCTCACCCCCGACCCGCTCAC CCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGACCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCC GCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCTGCTC ACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACC CCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCG CCCCGCTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(277): Show CCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG04199.hp1 HG02074.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0002 a0001c0007t0001 a0001c0004t0002 a0001c0007t0001	a0001c0004t0002g0173 a0001c0007t0001g0123 a0001c0004t0002g0173 a0001c0007t0001g0123	2	250	0.0080	284	c.309 others(303): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCT GCCTGCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

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