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
LIN54_chr4_82919603_83015823	83001857	A A	AAGGAAAG others(371): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0180 a0001c0001t0033g0180	1	286	0.0035	378	c.-33 others(395): Show c.-33+8626_-33+8627insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	1/12			chr4	TogoVar
LMF1_chr16_848634_975984	858688	G G	GTGTCACG others(371): Show GTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGAC GGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGC GTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGATGTCTCGGGACGGGTGTGCACTGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0049	1	289	0.0035	378	c.153 others(397): Show c.1530-3983_1530-3982insTCAGTGCACACCCGTCCCGAGACATC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT CACACCCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCA CACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGTGA CA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(371): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCGGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	88	0.0114	378	c.171 others(395): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAG GCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC CGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACTG GGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCGGT others(371): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGCC CGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0019 a0001c0003t0001g0019	1	88	0.0114	378	c.171 others(395): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGG GGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(371): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAAAATATATAATTATTAATATATAATTATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATAACATATAATTATATATAATATATAAATATATAATA TATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03669.hp1 HG00642.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0001 a0001c0001t0001g0056	2	58	0.0345	378	c.622 others(393): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAAAATATATAATTATTAATATATAATTATATATAATA TATAATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAACATATAATTATATATAATATATAAATATATAATAT ATAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(371): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATTATATATAATT ATATATTATATAATAACATATAATTATATATAATATATAAATATATAATA TATAAATATATAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18966.hp1 NA18980.hp2 others(7): Show HG01123.hp1 NA18966.hp1 NA18980.hp2 NA18982.hp1 NA18988.hp1 NA19000.hp1 NA19056.hp1 NA19057.hp1 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0057	10	66	0.1515	378	c.622 others(393): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATATAATATATAATTATATATTATATATAATATATAAT TATATATTATATAATAATATATAATTATTAATATATAATTATATATAATA TATAATTATATATTATATAATAATATATAATTATATATTATATATAATTA TATATTATATAATAACATATAATTATATATAATATATAAATATATAATAT ATAAATATATAATATATAAATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
LUC7L_chr16_183990_234449	186918	G G	GGAGGAAC others(371): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGGAA CAGCGACACGGGAGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACA CGGGAGGGAGGAACAGCGACACGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	320	0.0031	378	c.22 others(389): Show c.2279_*2280insTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCG CTGTTCCTCCCTCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCC CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2071		chr16	TogoVar
MEGF6_chr1_3482951_3616508	3583270	A A	ACAGCCAC others(371): Show ACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0148 a0005c0005t0001g0148	1	242	0.0041	378	c.377 others(395): Show c.377-3342_377-3341insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MICAL3_chr22_17782649_18029561	17877036	G G	GGGAAGTT others(371): Show GGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAGGGAAG TTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGT TAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGG AGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTGAGGGAGGTTATGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	212	0.0047	378	c.224 others(397): Show c.2242-5014_2242-5013insATAACCTCCATAACCTCCCTCACCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAA CCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACTTCC CTAACCTCCATAACCTCCATAACCTCCATAACCTCCCTCACCTCCCTAAC CTCCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACC TCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTT CC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877151	T T	TAGGGAGG others(371): Show TAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGA AGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTA GGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAG GTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAAGTTATGGAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	245	0.0041	378	c.224 others(397): Show c.2242-5129_2242-5128insCACCTCCATAACCTCCATAACTTCCC TAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCT CCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCCATAACCTCCATA ACTTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC CT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877333	T T	TGGAGGTT others(371): Show TGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGT TATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	198	0.0051	378	c.224 others(397): Show c.2242-5311_2242-5310insCTAACCTCCATAACCTCCCTAACCTC CCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCT AACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCT CC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(371): Show GGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAAGTTATGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	159	0.0063	378	c.224 others(397): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAAC CTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTTCCCT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCT CC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877472	G G	GGTTATGG others(371): Show GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAAGTTAT GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0008 a0016c0023t0008	a0016c0023t0008g0019 a0016c0023t0008g0019	1	267	0.0037	378	c.224 others(397): Show c.2242-5450_2242-5449insTTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCC ATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCTCCCTAAC CTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCC TCACCTCCATAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACC TCCATAACTTCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTT CCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA AC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500175	G G	GTGGCAGT others(371): Show GTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGT GGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGT GGTGATGGTGATGGAGGTGGCAGTGATGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0089 a0001c0002t0028g0089	1	235	0.0043	378	c.748 others(395): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(371): Show TATATATACAATATTATATATATTATATATAATATATATACAATATTATA TATATTATATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATATGTATAATATATATATTGTATATATATATTATAC ATATGTATATATATATTATACATATATATGTATAATATATATAATGTATA TATATATATACATATTATATATTATATATAATATATACATATATATTATA TATAATATATACATATTATATATTATATATATAATATATATACATATTAT ATTATATATAATATATATACATATTACATATATTATATATAATATATATA CATATATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG02965.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0327 a0001c0002t0004g0329 a0001c0002t0004g0327 a0001c0002t0004g0329	2	202	0.0099	378	c.262 others(397): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TATATACAATATTATATATATTATATATATATACATATATATGTATATAT ACATATATAATATGTATATATGTATATATATATGTATAATATATATATTG TATATATATATTATACATATGTATATATATATTATACATATATATGTATA ATATATATAATGTATATATATATATACATATTATATATTATATATAATAT ATACATATATATTATATATAATATATACATATTATATATTATATATATAA TATATATACATATTATATTATATATAATATATATACATATTACATATATT ATATATAATATATATACATATATAATATATTATATATTATATATAATATA TA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(371): Show GGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGG GGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGC GCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGTCGCGTGGAGGAGGG GCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGG GGGGCGCGTGGGGGGGTGTGGAGGGGGGGCGCGTGGGGGTGTGTGGGGGG GGCACGTGGAGGGGGGCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAG GGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGG GGCACGTGGAGGGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	218	0.0046	378	c.159 others(395): Show c.1596+165_1596+166insTGTGGAGGGGGGCGCGTGGGGGGGGCGC ATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGA GGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGTCGCGTGGAG GAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGT GGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGGCGCGTGGGGGTGTGTG GGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGCGTGGAGGAGGGGCGCG TGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTG GGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(371): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTATATATATTTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATTATATATATAAAATCTTATTTTATATATTATATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	274	0.0036	378	c.-5+ others(393): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATAATATAT AAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATA TATAAAAATATATATAAATATATATAAAATAAGATTTTATATATATAAAA TATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATT TTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(371): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTATATATTATAAATTTATAATATA TATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATAA GTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAATT ATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTA TAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATAT AACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATA AGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0027 a0001c0037t0001g0027	1	8	0.1250	378	c.710 others(395): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGT TATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATT ATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTA TAATTATAAATTATATATTATAACTTATAATTAAAAATTATAATATATAA CTTATAATTATAAATTATATATTATAAATTATAATATATAAATTATATAT ATATATTATAAATTTATAATATATAATTATATATTATAATTTATAATTTA TAATTATAAATTATATATTATAAATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(371): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA18999.hp2 HG04228.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0011 a0001c0002t0002g0006 a0001c0002t0002g0011	2	197	0.0102	378	c.-28 others(389): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYT1L_chr2_1784113_2336275	2295755	C C	CAGACAGA others(371): Show CAGACAGACAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGACAGA CAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGACAGA CAGACAGAGAGAGACAGACAGACAGAGAGAGAGAGATAGAGAGACAGACA GACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGATAGA GAGACAGACAGACAGAGAGAGAGAGAGAGAGACAGACAGAGAGAGAGAGA GACAGACAGACAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGA GAGAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGA GATAGAGAGACAGACAGACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0006 a0001c0012t0003g0006	1	101	0.0099	378	c.-52 others(399): Show c.-520-11253_-520-11252insCTCTCTCTCTGTCTGTCTGTCTCT CTATCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGT CTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTGTCTGT CTGTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTCTGTCTGTCT GTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCT CTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTCT GTCTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCT CTCTGTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTGTCT GTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NAALADL2_chr3_174854334_175815548	175698072	T T	TATATATG others(371): Show TATATATGTGTATATATGTATGTATACATATATATGTGTATATATGTATG TATACATATATATGTGTATATATGTATGTATACATATATATGTGTATATA TGTATGTATACATATATATGTGTGTATATGTATGTATACATATATATGTG TGTATATGTATGTATACATATATGTGTGTATATGTATGTATACATATATG TGTGTATATGTATGTATACATACATATGTGTATATATGTATGTATACATA CATATGTGTATATGTGTATGTATACATACATATGTGTATGTATACATATA TATGTGTATATGTGTATGTATACATATATATGTGTATATATGTATGTATA CATATATATGTGTATATATGTATGTATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0014 a0002c0003t0005g0014	1	63	0.0159	378	c.189 others(399): Show c.1897-39112_1897-39111insGTATATGTATGTATACATATATAT GTGTGTATATGTATGTATACATATATGTGTGTATATGTATGTATACATAT ATGTGTGTATATGTATGTATACATACATATGTGTATATATGTATGTATAC ATACATATGTGTATATGTGTATGTATACATACATATGTGTATGTATACAT ATATATGTGTATATGTGTATGTATACATATATATGTGTATATATGTATGT ATACATATATATGTGTATATATGTATGTATACATATATGTGTATATATGT ATGTATACATATATATGTGTATATATGTATGTATACATATATATGTGTAT ATATGTATGTATACATATATATGTGTATATATGTATGTATACATATATAT GTGT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NALCN_chr13_101048776_101421508	101334388	A A	ATCCAGGA others(371): Show ATCCAGGAAGAATGGGATGAACACATACATTCAAGAGGAGAATGGAGACA GGCATTCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAATGGA GAGAGGCATTCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAA TGGAGAGAGGCAATCCAGGAAGAATGGGATGAACACATACATTCAAGAAG AGAATGGAGAGAGGCATTCCAGGAAGAATGGGATGAACACATACATTCAA GAAGAGAATGGAGAGAGGCATTCCAGGAAGAATGGGATGAACACATACAT TCAAGAAGAGAATGGAGAGAGGCAATCCAGGAAGAATGGGATGAACACAT ACATTCAAGAAGAGAATGGAGAGAGGCAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0005 a0001c0021t0005	a0001c0021t0005g0038 a0001c0021t0005g0038	1	135	0.0074	378	c.799 others(397): Show c.799+10877_799+10878insATGCCTCTCTCCATTCTCTTCTTGAA TGTATGTGTTCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTCTTCT TGAATGTATGTGTTCATCCCATTCTTCCTGGAATGCCTCTCTCCATTCTC TTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGAATGCCTCTCTCCAT TCTCTTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGATTGCCTCTCT CCATTCTCTTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGAATGCCT CTCTCCATTCTCTTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGAAT GCCTGTCTCCATTCTCCTCTTGAATGTATGTGTTCATCCCATTCTTCCTG GA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NALCN_chr13_101048776_101421508	101334409	C C	CACATACA others(371): Show CACATACATTCAAGAAGAGAATGGAGAGAGGCAATCCAGGAAGAATGGGA TGAACACATACATTCAAGAGGAGAATGGAGAGAGGCATTCCAGGAAGAAT GGGATGAATACATACATTCAAGAAGAGAATGGAGAGAGGCATTCCAGGAA GAATGGGATGAATACATACATTCAAGAAGAGAATGGAGAGAGGCATTCCA GGAAGAATGGGATGAATACATACATTCAAGAAGAGAATGGAGAGAGGCAT TCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAATGGAGACAG GCATTCCAGGAAGAATGGGATGAACACATACATTCAAGAGGAGAATGGAG AGAGGCATTCCAGGAAGAATGGGATGAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0149 a0001c0001t0010g0149	1	157	0.0064	378	c.799 others(397): Show c.799+10856_799+10857insATTCATCCCATTCTTCCTGGAATGCC TCTCTCCATTCTCCTCTTGAATGTATGTGTTCATCCCATTCTTCCTGGAA TGCCTGTCTCCATTCTCTTCTTGAATGTATGTGTTCATCCCATTCTTCCT GGAATGCCTCTCTCCATTCTCTTCTTGAATGTATGTATTCATCCCATTCT TCCTGGAATGCCTCTCTCCATTCTCTTCTTGAATGTATGTATTCATCCCA TTCTTCCTGGAATGCCTCTCTCCATTCTCTTCTTGAATGTATGTATTCAT CCCATTCTTCCTGGAATGCCTCTCTCCATTCTCCTCTTGAATGTATGTGT TCATCCCATTCTTCCTGGATTGCCTCTCTCCATTCTCTTCTTGAATGTAT GT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(371): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0363 a0001c0001t0001g0364	2	5	0.4000	378	c.238 others(395): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(371): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCATCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0002 a0013c0015t0002	a0013c0015t0002g0130 a0013c0015t0002g0130	1	4	0.2500	378	c.238 others(395): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(371): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCATCCTCCCCATG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18975.hp1 NA18994.hp1 others(1): Show NA18969.hp1 NA18975.hp1 NA18994.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0250 a0001c0001t0001g0260 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0266	4	7	0.5714	378	c.238 others(395): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(371): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	4	0.2500	378	c.238 others(395): Show c.2389-223_2389-222insGATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(371): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	4	0.2500	378	c.238 others(395): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(371): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCATCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0229 a0001c0005t0001g0229	1	4	0.2500	378	c.238 others(395): Show c.2389-223_2389-222insCATGGGGAGGATGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668214	C C	CCGTTACC others(371): Show CCGTTACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCC TAGGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACA ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCCACAACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	171	0.0058	378	c.147 others(397): Show c.1479+3299_1479+3300insAGGGCGGAGGGACCCAGTTGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT TGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGG GTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC CTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAA CG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCCTTAC others(371): Show TCCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTT CCTTACCGACCCTGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	167	0.0060	378	c.147 others(397): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGG CGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAG GG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(371): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGG CCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCGGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	86	0.0116	378	c.-41 others(389): Show c.-4100_-4099insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCGGT others(371): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCAGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGCC CGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCCG GCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	86	0.0116	378	c.-41 others(389): Show c.-4100_-4099insCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NLRP8_chr19_55942832_55993629	55993497	T T	TCCCTCCC others(371): Show TCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0040 a0002c0030t0040	a0002c0030t0040g0221 a0002c0030t0040g0221	1	305	0.0033	378	c.55 others(389): Show c.5584_*5585insCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4869		chr19	TogoVar
NRAP_chr10_113583714_113669041	113647596	A A	AGTGGTAC others(371): Show AGTGGTACTGCCTCCCCCAGTGGTACTGCCTCCCCCGGTGGTACTGCCTC CCCTGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCGGTGGTACTG TCTCCCCCGGTGGTACTTCCTCTCCTAGTGGTACTGTCTCCCCCGGTGGT ACTGTCTCCCCCGGTGGTACTGTCTCCCCCAGTGGTACTGCCTCCCCCAG TGGTACTGTCTCCCCTGGTGGTACTGTCTCCCCCAGTGGTACTGCCTCCC CCAGTGGTACTGCCTCCCCCGGTGGTACTGCCTCCCCTGGTGGTACTTCC TCCCCTAGTGGTACTGTCTCCCCCGGTGGTACTGTCTCCCCCGGTGGTAC TTCCTCTCCTAGTGGTACTGTCTCCCCCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA20905.hp1 HG01981.hp1 NA20905.hp1	a0004 a0059 a0004 a0059	a0004c0004 a0059c0060 a0004c0004 a0059c0060	a0004c0004t0005 a0059c0060t0005 a0004c0004t0005 a0059c0060t0005	a0004c0004t0005g0014 a0059c0060t0005g0015 a0004c0004t0005g0014 a0059c0060t0005g0015	2	294	0.0068	378	c.889 others(393): Show c.889-570_889-569insCGGGGGAGACAGTACCACTAGGAGAGGAAG TACCACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGGGAG GAAGTACCACCAGGGGAGGCAGTACCACCGGGGGAGGCAGTACCACTGGG GGAGGCAGTACCACTGGGGGAGACAGTACCACCAGGGGAGACAGTACCAC TGGGGGAGGCAGTACCACTGGGGGAGACAGTACCACCGGGGGAGACAGTA CCACCGGGGGAGACAGTACCACTAGGAGAGGAAGTACCACCGGGGGAGAC AGTACCACCGGGGGAGACAGTACCACTAGGGGAGGAAGTACCACCAGGGG AGGCAGTACCACCGGGGGAGGCAGTACCACTGGGGGAGGCAGTACCAC	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NRG3_chr10_81870194_82992178	82534220	T T	TCAAAATC others(371): Show TCAAAATCTCAGTGGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	66	0.0152	378	c.953 others(399): Show c.953+175374_953+175375insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACTCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAAATCTCAGTGGTATT TTCT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRP2_chr2_205677501_205803131	205702149	G G	GTTTGGGA others(371): Show GTTTGGGACTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTCA CTTGATTTTTAGTAGATTTTATCTCATTTTATTGTTATTTTTTTTTTTTT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	347	0.0029	378	c.251 others(395): Show c.251+4444_251+4445insTTTTTTTTTTTTTTTTTTTTTTTTTTTG TTTCACTTGATTTTTAGTAGATTTTATCTCATTTTATTGTTATTTTTTTT TTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTG CAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCAC TAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCC TCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGT CCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTG TTTGGTTTTTTGTTCTTGCGATAGTTTACTGAATTTTGGGACTATTTTCT	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(371): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATTATATATATAAAGTATATATATAATATA TATAATATATATTATATATATAAAGTATATATATAATATATATAATATAT ATTATATATATAAAGTATATATATAATATATATAATATATATTATATATA TAAAGTATATATATAATATATAATATATATTATATATAAAGTATATATAT AATATATATTATATATAAAGTATATATATAATATATATTATATATATATA AAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0228 a0001c0003t0003g0228	1	2	0.5000	378	c.730 others(395): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATACTT TATATATAATATATATTATATATATTATATATATACTTTATATATAATAT ATATTATATATATTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN3_chr14_78165373_79873291	79257544	G G	GTGGTGGT others(371): Show GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAAT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAA TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTAATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0014 a0001c0008t0004g0014	1	22	0.0455	378	c.326 others(401): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTAATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATG GTGGTG	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(371): Show TCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0048 a0001c0001t0093g0048	1	30	0.0333	378	c.433 others(395): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(371): Show TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC CTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	72	0.0139	378	c.360 others(397): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGG CAGGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGG GG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948920	T T	TGCCTCCT others(371): Show TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	207	0.0048	378	c.360 others(397): Show c.360+30398_360+30399insCGCGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGG GGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAG GC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR2M2_chr1_248169821_248186067	248184555	T T	TAAAATTT others(371): Show TAAAATTTCAATTTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGAGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	456	0.0022	378	c.35 others(389): Show c.3526_*3527insAAAATTTCAATTTTCTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OR2M2	ENSG00000198601.4	transcript	ENST00000641836.1	protein_coding		3489		chr1	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(371): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0119 a0119	a0119c0075 a0119c0075	a0119c0075t0002 a0119c0075t0002	a0119c0075t0002g0160 a0119c0075t0002g0160	1	148	0.0068	378	c.292 others(393): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(371): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01167.hp2 others(4): Show HG00639.hp2 HG00741.hp2 HG01167.hp2 HG01496.hp2 HG01981.hp2 HG03942.hp1 NA21309.hp2	a0004 a0007 a0018 others(4): Show a0004 a0007 a0018 a0023 a0039 a0051 a0105	a0004c0049 a0007c0004 a0018c0066 others(4): Show a0004c0049 a0007c0004 a0018c0066 a0023c0101 a0039c0098 a0051c0128 a0105c0109	a0004c0049t0001 a0007c0004t0002 a0018c0066t0002 others(4): Show a0004c0049t0001 a0007c0004t0002 a0018c0066t0002 a0023c0101t0002 a0039c0098t0001 a0051c0128t0001 a0105c0109t0001	a0004c0049t0001g0152 a0007c0004t0002g0219 a0018c0066t0002g0223 others(4): Show a0004c0049t0001g0152 a0007c0004t0002g0219 a0018c0066t0002g0223 a0023c0101t0002g0244 a0039c0098t0001g0221 a0051c0128t0001g0222 a0105c0109t0001g0220	7	154	0.0455	378	c.292 others(393): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(371): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 NA18964.hp2 others(1): Show HG00408.hp2 HG00558.hp2 NA18964.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0059 a0001c0001 a0002c0059	a0001c0001t0001 a0002c0059t0001 a0001c0001t0001 a0002c0059t0001	a0001c0001t0001g0157 a0001c0001t0001g0224 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0224 a0001c0001t0001g0225 a0002c0059t0001g0162	4	151	0.0265	378	c.292 others(393): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(371): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0010 a0010	a0010c0114 a0010c0114	a0010c0114t0002 a0010c0114t0002	a0010c0114t0002g0011 a0010c0114t0002g0011	1	148	0.0068	378	c.292 others(393): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RY8_chrX_1457581_1542185	1468987	T T	TCCTTCCC others(371): Show TCCTTCCCTCTCCCCTCTCCCTCCCCTTCCCTCTCCCTCTCCCCTCCCCT TCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTC CCTCTCCCCTCTCCCCTCCCCTTCCATCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCTCTCCCCTCTCCCCTCCCCTTCCATCTCC CCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCC TCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCTTCCCTCTCCCTCTC CCCTCCCCTTCCCTCTCCCCTTACCCCTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0056 a0001c0004t0020g0056	1	4	0.2500	378	c.-24 others(395): Show c.-24-2406_-24-2405insGAGGGGTAAGGGGAGAGGGAAGGGGAGG GGAGAGGGAGAGGGAAGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAG AGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAG GGGAGATGGAAGGGGAGGGGAGAGGGGAGAGGAAGGGGAGGGGAGAGGGG AGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAG AGGGAAGGGGAGGGGAGAGGGGAGATGGAAGGGGAGGGGAGAGGGGAGAG GGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGG AAGGGGAGGGGAGAGGGAGAGGGAAGGGGAGGGAGAGGGGAGAGGGAAGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PATJ_chr1_61737480_62168915	62137545	T T	TGGAGGGG others(371): Show TGGAGGGGGGAACACAGAGTGAGGGGGCACAGCAGTCTGAGGGGGAAATG CCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGA AATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGG GGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCT GAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAG GCCTGAGAGGGAAATGTCTCCGGAGGGGGAAACACAGAGTGAGGGGGGAC AGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGG GGACAGAGGCCTGAGAGGGAAATGCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(27): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01257.hp1 HG01496.hp2 HG01934.hp1 HG01975.hp2 HG02040.hp1 HG02109.hp1 HG02258.hp1 HG02523.hp1 HG02615.hp1 HG02735.hp1 HG02809.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG04204.hp1 NA18522.hp1 NA19056.hp1	a0001 a0003 a0006 others(15): Show a0001 a0003 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0015 a0027 a0028 a0033 a0041 a0053 a0055 a0057 a0059	a0001c0024 a0001c0088 a0003c0003 others(23): Show a0001c0024 a0001c0088 a0003c0003 a0003c0009 a0006c0016 a0006c0069 a0007c0107 a0008c0068 a0008c0113 a0009c0051 a0009c0052 a0009c0096 a0011c0007 a0011c0079 a0012c0005 a0012c0025 a0014c0002 a0015c0010 a0027c0073 a0028c0075 a0033c0132 a0041c0060 a0053c0065 a0055c0066 a0057c0080 a0059c0074	a0001c0024t0002 a0001c0088t0004 a0003c0003t0001 others(23): Show a0001c0024t0002 a0001c0088t0004 a0003c0003t0001 a0003c0009t0008 a0006c0016t0001 a0006c0069t0001 a0007c0107t0001 a0008c0068t0008 a0008c0113t0001 a0009c0051t0001 a0009c0052t0001 a0009c0096t0001 a0011c0007t0001 a0011c0079t0001 a0012c0005t0002 a0012c0025t0002 a0014c0002t0001 a0015c0010t0001 a0027c0073t0001 a0028c0075t0001 a0033c0132t0001 a0041c0060t0002 a0053c0065t0003 a0055c0066t0002 a0057c0080t0001 a0059c0074t0015	a0001c0024t0002g0139 a0001c0088t0004g0017 a0003c0003t0001g0052 others(27): Show a0001c0024t0002g0139 a0001c0088t0004g0017 a0003c0003t0001g0052 a0003c0009t0008g0091 a0003c0009t0008g0133 a0006c0016t0001g0153 a0006c0069t0001g0034 a0007c0107t0001g0086 a0008c0068t0008g0045 a0008c0113t0001g0108 a0009c0051t0001g0051 a0009c0052t0001g0046 a0009c0096t0001g0012 a0011c0007t0001g0128 a0011c0079t0001g0149 a0012c0005t0002g0121 a0012c0025t0002g0140 a0014c0002t0001g0041 a0014c0002t0001g0048 a0014c0002t0001g0049 a0015c0010t0001g0087 a0015c0010t0001g0093 a0027c0073t0001g0035 a0028c0075t0001g0047 a0033c0132t0001g0070 a0041c0060t0002g0120 a0053c0065t0003g0096 a0055c0066t0002g0123 a0057c0080t0001g0085 a0059c0074t0015g0094	30	137	0.2190	378	c.527 others(397): Show c.5271+8626_5271+8627insCACAGCAGTCTGAGGGGGAAATGCCT CTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAAT GCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGG AAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAG GGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCC TGAGAGGGAAATGTCTCCGGAGGGGGAAACACAGAGTGAGGGGGGACAGA GGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGA CAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGG GG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62137545	T T	TGGAGGGG others(371): Show TGGAGGGGGGAACACAGAGTGAGGGGGCACAGCAGTCTGAGGGGGAAATG CCTCTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGA AATGCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGG GGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCT GAGGGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAG GCCTGAGAGGGAAATGTCTCCGGAGGGGGGAACACAGAGTGAGGGGGGAC AGAGGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGG GGACAGAGGCCTGAGAGGGAAATGCCTCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0100 a0003c0100	a0003c0100t0001 a0003c0100t0001	a0003c0100t0001g0009 a0003c0100t0001g0009	1	108	0.0093	378	c.527 others(397): Show c.5271+8626_5271+8627insCACAGCAGTCTGAGGGGGAAATGCCT CTGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGGAAAT GCCTCCGGAGGGGGGGACACAGAGTGAGGGGGGACAGAGGCCTGAGGGGG AAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCCTGAG GGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGAGGCC TGAGAGGGAAATGTCTCCGGAGGGGGGAACACAGAGTGAGGGGGGACAGA GGCCTGAGAGGGAAATGTCTCTGGAGGGGGAAACACAGAGTGAAGGGGGA CAGAGGCCTGAGAGGGAAATGCCTCCGGAGGGGGGAACACAGAGTGAGGG GG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar

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