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
DECR2_chr16_396885_417482	397703	G G	GGGGGGGT others(451): Show GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	367	0.0027	458	c.-42 others(469): Show c.-4261_-4260insGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(451): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGG TGAGGGAGTCGGGGAGTGGGGGGTGGGGGGGGTGAGGGAGTCCGGGGGTG GGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	367	0.0027	458	c.-42 others(469): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGGGGTGA GGGAGTCCGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DGKD_chr2_233349494_233477098	233396927	T T	TGGGGGGG others(451): Show TGGGGGGGGCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGG GGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGG CCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGA GTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAG AGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGAC ACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAG AGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGG GGACCAGGGTGGCTGGGGGGGGGCGCCAGAGTGAGAGGACTCCAGAGGGG ACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAG CGTGGCTGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0108 a0001c0002t0004g0108	1	336	0.0030	458	c.348 others(475): Show c.348+6453_348+6454insAGAGCGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGGGGGGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGT GGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTG GCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGA GGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCA GAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTG AGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGA GGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGCGCCAGAGTGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACC AGAGGGGACCAGCGTGGCTGGGGGGGGGGC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHRSX_chrX_2214506_2505976	2227960	A A	AGGGAGGA others(451): Show AGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGG GAGGGAAGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGAAGGGATGGAGGAAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGAAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGACG AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGA GGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGATGGAGGAAGG GAGGGAGGG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0002 a0002c0002t0003g0002	1	50	0.0200	458	c.805 others(475): Show c.805-6732_805-6731insCCCTCCCTCCCTTCCTCCATCCCTTCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCGTCCCTCCCTCCCTCCCT CCCTTCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTTCCTCCATCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCC TCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTTCCTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(451): Show CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACC CCCACCCGCACCCGCACCCCCCACCCCCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0260 a0005c0005t0002g0260	1	320	0.0031	458	c.39 others(469): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DLGAP2_chr8_732628_1713476	747763	T T	TGCGGTGG others(451): Show TGCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGA TGGGCGGGCCTGCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGGGGCTC TGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGA TGGGGGGCTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGTCTC TGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGCGGGCCTGCGGTGGGA TGGGGGTCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTC TGCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGA TGGGGGGCTCTGTGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGTCTC TGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGTCTCTGCGGTGGGA TGGGCGGGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	458	c.18+ others(473): Show c.18+9938_18+9939insGCGGTGGGATGGGGGTCTCTGCGGTGGGAT GGGGGGCTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGATGGGGGTCTCT GCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGAT GGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGCCT GCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGAT GGGCGGGCCTGCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGGGGCTCT GCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGTCTCTGCGGTGGGAT GGGGGGCTCTGCGGTGGGATGGGGGGCTCTGTGGTGGGATGGGCGGGCCT GCGGTGGGATGGGGGTCTCTGCGGTGGGATGGGCGGGCCTGCGGTGGGAT GGGGGTCTCTGCGGTGGGATGGGCGGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DOCK1_chr10_126900428_127457516	126947739	G G	GTGGTGAT others(451): Show GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAG TATTACTGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	136	0.0074	458	c.47- others(475): Show c.47-22916_47-22915insAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619053	C C	CAGCTCCC others(451): Show CAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCC CCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCC CCTCCCTGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	250	0.0040	458	c.-10 others(477): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCC CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC TCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EHMT1_chr9_137614005_137841127	137716506	G G	GTGGTGTC others(451): Show GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGG AAGTTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0048 a0001c0005t0001g0048	1	170	0.0059	458	c.86- others(469): Show c.86-67_86-66insTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBXO34_chr14_55266421_55358611	55332023	T T	TACACCAC others(451): Show TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGGTATATATAAAAATA TATATATAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	334	0.0030	458	c.-10 others(477): Show c.-10-18356_-10-18355insACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATAT ATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGGTATATATAAAAATATATATATACAC	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALR1_chr18_77244848_77282900	77248111	T T	TGTGGGTT others(451): Show TGTGGGTTTTTATTTTTTATTTTTTATTTATTTTTTTTTTAAATTTTTTT TTTATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATATATGTGCCATGCTGGTGCGCTGCACCCACCAACGTGTC ATCTATCATTAGGTATATCTCCCACTGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCTCTTCCTGTGCCCTTGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACA TTTGGGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01081.hp2 others(6): Show HG00558.hp1 HG00673.hp1 HG01081.hp2 HG01978.hp1 HG02965.hp1 HG03453.hp2 HG04184.hp2 NA18981.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0012 a0001c0004 a0002c0012	a0001c0004t0004 a0001c0004t0018 a0001c0004t0028 others(3): Show a0001c0004t0004 a0001c0004t0018 a0001c0004t0028 a0001c0004t0064 a0001c0004t0132 a0002c0012t0120	a0001c0004t0004g0327 a0001c0004t0004g0328 a0001c0004t0018g0330 others(6): Show a0001c0004t0004g0327 a0001c0004t0004g0328 a0001c0004t0018g0330 a0001c0004t0018g0331 a0001c0004t0018g0332 a0001c0004t0028g0335 a0001c0004t0064g0326 a0001c0004t0132g0333 a0002c0012t0120g0334	9	366	0.0246	458	c.-24 others(469): Show c.-2438_-2437insGTGGGTTTTTATTTTTTATTTTTTATTTATTTTT TTTTTAAATTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATATATGTGCCATGCTGGTGCGCTGC ACCCACCAACGTGTCATCTATCATTAGGTATATCTCCCACTGCTATCCCT CCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCTCTTC CTGTGCCCTTGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATAT GCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTT CCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATG GCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTC TATCATTGTTGGACATTTGGGTTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		1736		chr18	TogoVar
GAS6_chr13_113815549_113869076	113816252	G G	GGGGAGAC others(451): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAG CGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCT TTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGC AGTCACTGGTCAGGGACACGAGTTCTTTTCGGGGAGGCAAGCATGTTCTA AGCGTGTTCTGGATGGGGAGGGAGGTGCAGTCACTGGTCAGGGACATGGT TTCTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(21): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp1 HG01099.hp1 HG01361.hp1 HG01361.hp2 HG01978.hp1 HG02040.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG03017.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18990.hp1 NA18995.hp1 NA19064.hp2 NA19074.hp2 NA19091.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0001c0017 a0005c0011	a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0013t0001 a0001c0017t0001 a0005c0011t0001	a0001c0002t0001g0032 a0001c0002t0001g0139 a0001c0003t0001g0005 others(21): Show a0001c0002t0001g0032 a0001c0002t0001g0139 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0023 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0123 a0001c0003t0005g0004 a0001c0004t0001g0080 a0001c0004t0001g0087 a0001c0013t0001g0069 a0001c0017t0001g0024 a0005c0011t0001g0100	24	143	0.1678	458	c.46 others(469): Show c.4611_*4612insTGAAAAGAAACCATGTCCCTGACCAGTGACTGCA CCTCCCTCCCCATCCAGAACACGCTTAGAACATGCTTGCCTCCCCGAAAA GAACTCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATCCAGAACACGC TGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGACCAGTGAC TGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCGAA AAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAACAC GCTGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGAGCAGTG ACTGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCG AAAAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAAC ACGCTGCGAACACGCTTGTCTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		4296		chr13	TogoVar
GAS6_chr13_113815549_113869076	113816252	G G	GGGGAGAC others(451): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAG CGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCT TTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGC AGTCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCATGTTCTA AGCGTGTTCTGGATGGGGAGGGAGGTGCAGTCACTGGTCAGGGACATGGT TTCTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02135.hp2 HG02738.hp2 others(6): Show HG01943.hp1 HG02135.hp2 HG02738.hp2 HG03225.hp2 HG04228.hp2 NA18747.hp1 NA19064.hp1 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0038 others(6): Show a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0038 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0086 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0004t0001g0122	9	143	0.0629	458	c.46 others(469): Show c.4611_*4612insTGAAAAGAAACCATGTCCCTGACCAGTGACTGCA CCTCCCTCCCCATCCAGAACACGCTTAGAACATGCTTGCCTCCCCGAAAA GAACCCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATCCAGAACACGC TGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGACCAGTGAC TGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCGAA AAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAACAC GCTGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGAGCAGTG ACTGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCG AAAAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAAC ACGCTGCGAACACGCTTGTCTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		4296		chr13	TogoVar
GAS6_chr13_113815549_113869076	113816252	G G	GGGGAGAC others(451): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAG TGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCT TTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGC AGTCACTGGTCAGGGACACGAGTTCTTTTCGGGGAGGCAAGCATGTTCTA AGCGTGTTCTGGATGGGGAGGGAGGTGCAGTCACTGGTCAGGGACATGGT TTCTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	143	0.0070	458	c.46 others(469): Show c.4611_*4612insTGAAAAGAAACCATGTCCCTGACCAGTGACTGCA CCTCCCTCCCCATCCAGAACACGCTTAGAACATGCTTGCCTCCCCGAAAA GAACTCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATCCAGAACACGC TGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGACCAGTGAC TGCACCTCTCCCCATCCAGAACACACTGCGAACACGCTTGTCTCCCCGAA AAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAACAC GCTGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGAGCAGTG ACTGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCG AAAAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAAC ACGCTGCGAACACGCTTGTCTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		4296		chr13	TogoVar
GAS6_chr13_113815549_113869076	113816252	G G	GGGGAGAC others(451): Show GGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTC ACTGCTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAG TCACTGGTCAGGGACACGGGTTCTTTTCGGGGAGACAAGCGTGTTCGCAG CGTGTTCTGGATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCT TTTCGGGGAGACAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGC AGTCACTGGTCAGGGACACGAGTTCTTTTCGGGGAGGCAAGCATGTTCTA AGCGTGTTCTGGATGGGGAGGGAGGTGCAGTCACTGGTCAGGGACATGGT TTCTTTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0055 a0001c0004t0001g0055	1	143	0.0070	458	c.46 others(469): Show c.4611_*4612insTGAAAAGAAACCATGTCCCTGACCAGTGACTGCA CCTCCCTCCCCATCCAGAACACGCTTAGAACATGCTTGCCTCCCCGAAAA GAACTCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATCCAGAACACGC TGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGACCAGTGAC TGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCGAA AAGAACCCGTGTCCCTGACCAGTGACTGCACCTCTCCCCATCCAGAACAC GCTGCGAACACGCTTGTCTCCCCGAAAAGAACCCGTGTCCCTGAGCAGTG ACTGCACCTCTCCCCATCCAGAACACGCTGCGAACACGCTTGTCTCCCCG AAAAGAACCCGTGTCCCTGAGCAGTGACTGCACCTCTCCCCATCCAGAAC ACGCTGCGAACACGCTTGTCTCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		4296		chr13	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(451): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAA ATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTAT ATTTATTCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00735.hp2 others(13): Show HG00280.hp1 HG00438.hp1 HG00735.hp2 HG01071.hp2 HG01928.hp1 HG02071.hp1 HG02257.hp2 HG02572.hp1 HG03041.hp1 HG04204.hp1 NA18944.hp1 NA18948.hp1 NA18981.hp2 NA18983.hp1 NA19012.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024 a0001c0001t0044	a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0094 others(13): Show a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0004g0118 a0001c0001t0004g0130 a0001c0001t0010g0083 a0001c0001t0024g0190 a0001c0001t0044g0180	16	208	0.0769	458	c.-97 others(475): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(451): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAA ATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTAT ATTTATTCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02922.hp2 HG01993.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0140 a0001c0001t0004g0066 a0001c0001t0001g0140 a0001c0001t0004g0066	2	208	0.0096	458	c.-97 others(475): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074119	T T	TATAAATA others(451): Show TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACA TGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATT CATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATA TATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATA CATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTA TTCATATAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18946.hp2 NA19060.hp1 HG01993.hp1 NA18946.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0178 a0001c0001t0003g0097 a0001c0001t0004g0091 a0001c0001t0001g0178 a0001c0001t0003g0097 a0001c0001t0004g0091	3	208	0.0144	458	c.-97 others(475): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATAGA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074119	T T	TATAAATA others(451): Show TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATA TGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACA TGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATT CATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATA TATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATA CATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTTA TTCATATAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02056.hp1 HG01074.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0119 a0001c0001t0006g0201 a0001c0001t0001g0119 a0001c0001t0006g0201	2	208	0.0096	458	c.-97 others(475): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATAGA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46635405	G G	GGAGGCCG others(451): Show GGAGGCCGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAG GCCCTATCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTC CTGCCTGTCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCC CTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGC CCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCC GCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCCGCCC CCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGCCAC TCCTGTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0145 a0001c0001t0005g0145	1	328	0.0031	458	c.163 others(475): Show c.163-2434_163-2433insAGGCCGTATCCTCCCTGCCCCCACCCCT GGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTC CTGTCCTGGGGGACCGTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGT CCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTG GGAGGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAG GCCCTATCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCG TGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTC CTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCC CTGCCCCCGCCCCCGGCCACTCCTGTCCTG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GUCY1A2_chr11_106669019_107023476	106709971	A A	ACATGTAT others(451): Show ACATGTATATAACATATACTTATATATTATATACATGTATATAACATATA CTTATATATTATATACATGTATATAACATATACTTATATATTATATACAT GTATATAACATATACTTATATATTATATACATGTATATAACATATACTTA TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTA TGTATATTATATACATGTATATAACATATAGTTATGTATATTATATACAT GTATATAACATATAGTTATGTATATTATATACATGTATATAACATATAGT TATGTATATTATATACATGTATATAACATATAGTTATGTATATTATATAC ATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATATA GTTATGTAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0191 a0001c0002t0007g0191	1	256	0.0039	458	c.183 others(477): Show c.1837-1306_1837-1305insATACATAACTATATGTTATATACATG TATATAATATACATAACTATATGTTATATACATGTATATAATATACATAA CTATATGTTATATACATGTATATAATATACATAACTATATGTTATATACA TGTATATAATATACATAACTATATGTTATATACATGTATATAATATACAT AACTATATGTTATATACATGTATATAATATACATAACTATATGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATATAAGTATATGTTATATA CATGTATATAATATATAAGTATATGTTATATACATGTATATAATATATAA GTATATGTTATATACATGTATATAATATATAAGTATATGTTATATACATG TATATAATATATAAGTATATGTTATATACATG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HIVEP3_chr1_41501365_41923922	41527289	A A	ACACCCTC others(451): Show ACACCCTCACACTCCCTCACACGTTCACCCTCACACACTCACCCTTACAT GCTCACCCTCACACTCACACCCTCACATGCTCACCCTCACACACCCTCAC ACATACACCCCCACACATTCGCCCTCACACCTGCTCACAGGCCCACACTC ACCCTCACACACACCCTCACATGCTCACCCTCACATGTTAACCTCACACA TACACCCCCACACTCACACACCCTCACACCTGCTCACACCCCCACTCACC CACACACACACCCTCACACGCTCATCCACACACACCCACAGTGCTCACCC TCATACACCCCCACACACCCTCACACCTTCACATGCCACACCCCTGCACT CACACACTCACACTCCACACCCCGCCCTTACACTCACCTTCACACTCACA CTCCACACCCCCACCCCACACCTCCACTCACACCCCTGCCCTCACACACC CTCACACCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01496.hp1 others(2): Show HG01109.hp1 HG01433.hp1 HG01496.hp1 HG06807.hp1 NA21309.hp1	a0007 a0029 a0032 a0007 a0029 a0032	a0007c0008 a0029c0035 a0032c0027 a0007c0008 a0029c0035 a0032c0027	a0007c0008t0007 a0029c0035t0019 a0032c0027t0003 a0007c0008t0007 a0029c0035t0019 a0032c0027t0003	a0007c0008t0007g0020 a0007c0008t0007g0061 a0007c0008t0007g0067 others(2): Show a0007c0008t0007g0020 a0007c0008t0007g0061 a0007c0008t0007g0067 a0029c0035t0019g0026 a0032c0027t0003g0077	5	134	0.0373	458	c.520 others(477): Show c.5208-2380_5208-2379insGGGTGTGAGGGTGTGTGAGGGCAGGG GTGTGAGTGGAGGTGTGGGGTGGGGGTGTGGAGTGTGAGTGTGAAGGTGA GTGTAAGGGCGGGGTGTGGAGTGTGAGTGTGTGAGTGCAGGGGTGTGGCA TGTGAAGGTGTGAGGGTGTGTGGGGGTGTATGAGGGTGAGCACTGTGGGT GTGTGTGGATGAGCGTGTGAGGGTGTGTGTGTGGGTGAGTGGGGGTGTGA GCAGGTGTGAGGGTGTGTGAGTGTGGGGGTGTATGTGTGAGGTTAACATG TGAGGGTGAGCATGTGAGGGTGTGTGTGAGGGTGAGTGTGGGCCTGTGAG CAGGTGTGAGGGCGAATGTGTGGGGGTGTATGTGTGAGGGTGTGTGAGGG TGAGCATGTGAGGGTGTGAGTGTGAGGGTGAGCATGTAAGGGTGAGTGTG TGAGGGTGAACGTGTGAGGGAGTGTGAGGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41527289	A A	ACACCCTC others(451): Show ACACCCTCACACTCCCTCACACGTTCACCCTCACACACTCACCCTTACAT GCTCACCCTCACACTCACACCCTCACATGCTCACCCTCACACACCCTCAC ACATACACCCCCACACATTCGCCCTCACACCTGCTCACAGGCCCACACTC ACCCTCACACACACCCTCACATGCTCACCCTCACATGTTAACCTCACACA TACACCCCCACACTCACACACCCTCACACCTGCTCACACCCCCACTCACC CACACACACACCCTCACACGCTCATCCACACACACCCACAGTGCTCACCC TCATACACCCCCACACACCCTCACACCTTCACATGCCACACCCCTGCACT CACACCCTCACACTCCACACCCCGCCCTTACACTCACCTTCACACTCACA CTCCACACCCCCACCCCACACCTCCACTCACACCCCTGCCCTCACACACC CTCACACCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01167.hp1 others(18): Show HG00280.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01433.hp2 HG02004.hp1 HG02145.hp1 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02922.hp1 HG03041.hp1 HG03225.hp2 HG03579.hp2 HG03710.hp1 HG06807.hp2 NA18906.hp1	a0001 a0004 a0012 others(5): Show a0001 a0004 a0012 a0013 a0017 a0018 a0022 a0028	a0001c0004 a0001c0028 a0004c0006 others(7): Show a0001c0004 a0001c0028 a0004c0006 a0012c0021 a0012c0022 a0013c0015 a0017c0033 a0018c0026 a0022c0019 a0028c0036	a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 others(16): Show a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 a0001c0004t0081 a0001c0004t0082 a0001c0004t0084 a0001c0004t0085 a0001c0028t0080 a0004c0006t0030 a0004c0006t0041 a0004c0006t0057 a0004c0006t0058 a0012c0021t0004 a0012c0022t0015 a0013c0015t0014 a0017c0033t0011 a0018c0026t0054 a0022c0019t0015 a0028c0036t0048	a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0108 others(18): Show a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0108 a0001c0004t0012g0113 a0001c0004t0081g0104 a0001c0004t0082g0129 a0001c0004t0084g0105 a0001c0004t0085g0128 a0001c0028t0080g0063 a0004c0006t0030g0045 a0004c0006t0041g0091 a0004c0006t0057g0023 a0004c0006t0058g0021 a0012c0021t0004g0074 a0012c0022t0015g0068 a0013c0015t0014g0024 a0013c0015t0014g0032 a0017c0033t0011g0095 a0018c0026t0054g0076 a0022c0019t0015g0057 a0028c0036t0048g0119	21	134	0.1567	458	c.520 others(477): Show c.5208-2380_5208-2379insGGGTGTGAGGGTGTGTGAGGGCAGGG GTGTGAGTGGAGGTGTGGGGTGGGGGTGTGGAGTGTGAGTGTGAAGGTGA GTGTAAGGGCGGGGTGTGGAGTGTGAGGGTGTGAGTGCAGGGGTGTGGCA TGTGAAGGTGTGAGGGTGTGTGGGGGTGTATGAGGGTGAGCACTGTGGGT GTGTGTGGATGAGCGTGTGAGGGTGTGTGTGTGGGTGAGTGGGGGTGTGA GCAGGTGTGAGGGTGTGTGAGTGTGGGGGTGTATGTGTGAGGTTAACATG TGAGGGTGAGCATGTGAGGGTGTGTGTGAGGGTGAGTGTGGGCCTGTGAG CAGGTGTGAGGGCGAATGTGTGGGGGTGTATGTGTGAGGGTGTGTGAGGG TGAGCATGTGAGGGTGTGAGTGTGAGGGTGAGCATGTAAGGGTGAGTGTG TGAGGGTGAACGTGTGAGGGAGTGTGAGGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41527289	A A	ACACCCTC others(451): Show ACACCCTCACACTCCCTCACACGTTCACCCTCACACACTCACCCTTACAT GCTCACCCTCACACTCACACCCTCACATGCTCACCCTCACACACCCTCAC ACATACATCCCCACACATTCGCCCTCACACCTGCTCACAGGCCCACACTC ACCCTCACACACACCCTCACATGCTCACCCTCACATGTTAACCTCACACA TACACCCCCACACTCACACACCCTCACACCTGCTCACACCCCCACTCACC CACACACACACCCTCACACGCTCATCCACACACACCCACAGTGCTCACCC TCATACACCCCCACACACCCTCACACCTTCACATGCCACACCCCTGCACT CACACCCTCACACTCCACACCCCGCCCTTACACTCACCTTCACACTCACA CTCCACACCCCCACCCCACACCTCCACTCACACCCCTGCCCTCACACACC CTCACACCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0027 a0027	a0027c0041 a0027c0041	a0027c0041t0027 a0027c0041t0027	a0027c0041t0027g0005 a0027c0041t0027g0005	1	134	0.0075	458	c.520 others(477): Show c.5208-2380_5208-2379insGGGTGTGAGGGTGTGTGAGGGCAGGG GTGTGAGTGGAGGTGTGGGGTGGGGGTGTGGAGTGTGAGTGTGAAGGTGA GTGTAAGGGCGGGGTGTGGAGTGTGAGGGTGTGAGTGCAGGGGTGTGGCA TGTGAAGGTGTGAGGGTGTGTGGGGGTGTATGAGGGTGAGCACTGTGGGT GTGTGTGGATGAGCGTGTGAGGGTGTGTGTGTGGGTGAGTGGGGGTGTGA GCAGGTGTGAGGGTGTGTGAGTGTGGGGGTGTATGTGTGAGGTTAACATG TGAGGGTGAGCATGTGAGGGTGTGTGTGAGGGTGAGTGTGGGCCTGTGAG CAGGTGTGAGGGCGAATGTGTGGGGATGTATGTGTGAGGGTGTGTGAGGG TGAGCATGTGAGGGTGTGAGTGTGAGGGTGAGCATGTAAGGGTGAGTGTG TGAGGGTGAACGTGTGAGGGAGTGTGAGGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(451): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTG GAACATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAA CCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACC ATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA19072.hp1 NA19091.hp1 NA18992.hp2 NA19072.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0003 a0001c0001t0001g0152 a0001c0001t0001g0157	3	323	0.0093	458	c.-32 others(469): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGA ACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGA ACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(451): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GAACATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAA CCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACC ATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	323	0.0031	458	c.-32 others(469): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGA ACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAA CATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(451): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GAACATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAA CCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACC ATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	323	0.0031	458	c.-32 others(469): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGA ACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(451): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGT GGAACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTG GAACATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAA CCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACC ATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01081.hp2 others(3): Show HG00280.hp2 HG01069.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0164 a0001c0001t0002g0024 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0164 a0001c0001t0002g0024 a0001c0001t0002g0151 a0001c0001t0002g0156	6	323	0.0186	458	c.-32 others(469): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGTGTGG AACCAATACATATGTGGAACTGTGGAACCAATACATATGTGGACCATACA TGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGA ACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAC CATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGACCATACATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IQSEC3_chr12_61767_183455	103629	G G	GGGGGAGG others(451): Show GGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGG GCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGAG AGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTCAG GAGGGGAGGCGGGGCTCAGGCAGGAGAGGCAGGGCTCAGGAGGGGAGGCA GGACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCAGGGCTCAGGAG GGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGCAGGG CTCAGGAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGA GGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAG GAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTG GAGTTCGGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0170 a0001c0004t0001g0170	1	282	0.0036	458	c.623 others(475): Show c.623+4497_623+4498insCGGGGCTCAGGAGGGAGAGGTGGAGTTC GGTGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGGAGGCG GGGCTCAGGCAGGAGAGGCAGGGCTCAGGAGGGGAGGCAGGACTCAGGAG GGAGAGGTGGAGTTCAGGAGGGGAGGCAGGGCTCAGGAGGGGAGGCGGGG CTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGCAGGGCTCAGGAGGGG AGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCA GGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGAGGGAGAGGT GGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCT CAGGGGTAGGTGGGGGCTCAGGAGGGGAGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
LAP3_chr4_17572198_17612970	17580165	C C	CATATATA others(451): Show CATATATATATATATACATATATATATATATATATATATACATACATATA TATATATATACATACATATATATATATATACATACATACATATATATACA TACATACATATATATATATATACATACATATATATATATACATACATATA TATATATACATACATATATATATATATACACATACATATATATATACATA CATATATATATATATACATACATATATATATATACATACATATATATATA TACATACATATATATATATACACATATATATATATACATACATATATATA CACATACATATATATATATACACATACATATATATATATACACATACATA TATATATACACATATATATATATACACACATATATATATATACACATATA TATATACACATATACATATATATATATACATACACATATATATATATATA TATGTGTAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0159 a0001c0004t0001g0159	1	300	0.0033	458	c.218 others(473): Show c.218+241_218+242insCATATATATATATATATATATATACATACA TATATATATATATACATACATATATATATATATACATACATACATATATA TACATACATACATATATATATATATACATACATATATATATATACATACA TATATATATATACATACATATATATATATATACACATACATATATATATA CATACATATATATATATATACATACATATATATATATACATACATATATA TATATACATACATATATATATATACACATATATATATATACATACATATA TATACACATACATATATATATATACACATACATATATATATATACACATA CATATATATATACACATATATATATATACACACATATATATATATACACA TATATATATACACATATACATATATATATATACATACACATATATATATA TATATATGTGTATATATATATATATATA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LONP2_chr16_48239300_48362349	48247412	A A	AGAGCAGC others(451): Show AGAGCAGCAGAAGTAATTTGCTCCCAGCGTTCTTTGCCACATAGAGTGGC AGGGTTAAATGATTTAAAATTTAATCATTTAAATTAGAAAACATACATTG AAAAGTCTTCATAGAATTCCAGCATTAAAAGAACTCATCAGACCATCTAG TTATCCTAGAAATATTGTTTGCTACTTCAAAAGCCTATGTGGAAAGATTG TACGATATTCCTTGGTAATAGTTTCGAATGTCTTTTTTTCTCTAATATGG CTTTTAAAGCACTCTACTTAAAAAAAAAAAAAAGCTTTAATAATACCAAT ACCGAGTTATCCACAGTATTAGTCTGTTTCCATGCACAAATCTGTCCTTC CCCAGTTACCTGCTTTTCTGTATGGTAGCCCAGAGGTGAGACGAGGGGCT CTGTTCCTGTCTCTTGTTTCCTTTACACCATCCAAGTGACACTGGCTGCA GCCTTCAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02647.hp2 others(7): Show HG01884.hp1 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02976.hp2 HG03139.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 others(7): Show a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050	a0001c0002t0041g0013 a0001c0002t0042g0007 a0001c0002t0043g0009 others(7): Show a0001c0002t0041g0013 a0001c0002t0042g0007 a0001c0002t0043g0009 a0001c0002t0044g0012 a0001c0002t0045g0010 a0001c0002t0046g0011 a0001c0002t0047g0008 a0001c0002t0048g0006 a0001c0002t0049g0015 a0001c0002t0050g0005	10	154	0.0649	458	c.233 others(475): Show c.233+2831_233+2832insTAGAGTGGCAGGGTTAAATGATTTAAAA TTTAATCATTTAAATTAGAAAACATACATTGAAAAGTCTTCATAGAATTC CAGCATTAAAAGAACTCATCAGACCATCTAGTTATCCTAGAAATATTGTT TGCTACTTCAAAAGCCTATGTGGAAAGATTGTACGATATTCCTTGGTAAT AGTTTCGAATGTCTTTTTTTCTCTAATATGGCTTTTAAAGCACTCTACTT AAAAAAAAAAAAAAGCTTTAATAATACCAATACCGAGTTATCCACAGTAT TAGTCTGTTTCCATGCACAAATCTGTCCTTCCCCAGTTACCTGCTTTTCT GTATGGTAGCCCAGAGGTGAGACGAGGGGCTCTGTTCCTGTCTCTTGTTT CCTTTACACCATCCAAGTGACACTGGCTGCAGCCTTCAAGGAGCAGCAGA AGTAATTTGCTCCCAGCGTTCTTTGCCACA	LONP2	ENSG00000102910.14	transcript	ENST00000285737.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
LONP2_chr16_48239300_48362349	48247412	A A	AGAGCAGC others(451): Show AGAGCAGCAGAAGTAATTTGCTCCCAGCGTTCTTTGCCACATAGAGTGGC AGGGTTAAATGATTTAAAATTTAATCATTTAAATTAGAAAACATAGATTG AAAAGTCTTCATAGAATTCCAGCATTAAAAGAACTCATCAGACCATCTAG TTATCCTAGAAGTATTGTTTGCTACTTCAAAAGCCTATGTGGAAAGATTG TACGATATTCCTTGGTAATAGTTTCGAATGTCTTTTTTTCTCTAATATGG CTTTTAAAGCACTCTACTTAAAAAAAAAAAAAAGCTTTAATAATACCAAT ACCGAGTTATCCACAGTATTAGTCTGTTTCCATGCACAAATCTGTCCTTC CCCAGTTACCTGCTTTTCTGTATGGTAGCCCAGAGGTGAGATGAGGGGCT CTGTTCCTGTCTCTTGTTTCCTTTACACCATCCAGGTGACACTGGCTGCA GCCTTCAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0018 a0001c0001t0011g0018	1	154	0.0065	458	c.233 others(475): Show c.233+2831_233+2832insTAGAGTGGCAGGGTTAAATGATTTAAAA TTTAATCATTTAAATTAGAAAACATAGATTGAAAAGTCTTCATAGAATTC CAGCATTAAAAGAACTCATCAGACCATCTAGTTATCCTAGAAGTATTGTT TGCTACTTCAAAAGCCTATGTGGAAAGATTGTACGATATTCCTTGGTAAT AGTTTCGAATGTCTTTTTTTCTCTAATATGGCTTTTAAAGCACTCTACTT AAAAAAAAAAAAAAGCTTTAATAATACCAATACCGAGTTATCCACAGTAT TAGTCTGTTTCCATGCACAAATCTGTCCTTCCCCAGTTACCTGCTTTTCT GTATGGTAGCCCAGAGGTGAGATGAGGGGCTCTGTTCCTGTCTCTTGTTT CCTTTACACCATCCAGGTGACACTGGCTGCAGCCTTCAAGGAGCAGCAGA AGTAATTTGCTCCCAGCGTTCTTTGCCACA	LONP2	ENSG00000102910.14	transcript	ENST00000285737.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATT others(451): Show TATATATTCATATATATATTCATATATATATATTCATATATAGATTCATA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATATTCATATATAGATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	191	0.0052	458	c.343 others(475): Show c.343-4348_343-4347insGAATATATATATGAATATATATATGAAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATCTAT ATATGAATATATATATGAATCTATATATGAATATATATGAATCTATATAT GAATATATATGAATCTATATATGAATATATATATGAATCTATATATGAAT ATATATATATGAATATATATATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATT others(451): Show TATATATTCATATATATATTCATATATATATATTCATATATAGATTCATA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATATTCATATATAGATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	191	0.0052	458	c.343 others(475): Show c.343-4348_343-4347insGAATATATATATGAATATATATATGAAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATCTAT ATATGAATATATATATGAATCTATATATGAATATATATGAATCTATATAT GAATATATATGAATCTATATATGAATATATATATGAATCTATATATGAAT ATATATATATGAATATATATATGAATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396715	C C	CATATATA others(451): Show CATATATATATATTCATATATAGATTCATATATATATTCATATATAGATT CATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TTCATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATTCAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	191	0.0052	458	c.343 others(475): Show c.343-4382_343-4381insATGAATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATCTATATATGA ATATATATGAATCTATATATGAATATATATGAATCTATATATGAATATAT ATATGAATCTATATATGAATATATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(451): Show TATTCATATATAGATTCATATAGATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATATTCATA TATATATTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	191	0.0052	458	c.343 others(475): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATCTATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(451): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATTCATATA TATTCATATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATATTCATA TATATATTC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0117 a0001c0001t0020g0117	1	191	0.0052	458	c.343 others(475): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATGAAT CTATATATGAATATATATATGAATCTATATATGAATATATATGAATCTAT ATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(451): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAG AGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	280	0.0036	458	c.641 others(473): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCC GCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTT TTCCCCCTCCTCCCCCCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(451): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGT TTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTG GTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGG TTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTG GTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGATG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	360	0.0028	458	c.57+ others(475): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGA GTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGG AGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGA GTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGG AGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(451): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTG TTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTG GTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGG TTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTGTG GTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGATG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	360	0.0028	458	c.57+ others(475): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGG AGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGG AGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGA GTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGG AGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MPG_chr16_73225_90846	81888	G G	GGGAAGGC others(451): Show GGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCC CTATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCC CACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCC TTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGC TGACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAATGCTC CCCACACTGACCCCTTCTTCCCACCACCCCTATCTCCGGGAAGGCCTCGT GAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAG GCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTC CGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACC CTATCTCCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	442	0.0023	458	c.301 others(475): Show c.301-1141_301-1140insACACTGACCCCTTCTTCCCACCACCCCT ATCTCCAGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTG ACCCCTTCTTCCCACCACCCTATCTCCAGGAAGGCCTCCTGAATGCTCCC CACACTGACCCCTTCTTCCCACCACCCCTATCTCCGGGAAGGCCTCGTGA ATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGC CTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTACCTCCG GGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCT ATCTCCAGGAAGGCCTCCTGAATGCTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(451): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATATAAATATATATAAAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATTTAGCTATATTTATATCAGAT AAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTA TATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATA TATATATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATA TATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATATTT AGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATA TAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTT GGTTATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02630.hp2 others(1): Show HG02055.hp1 HG02622.hp1 HG02630.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0035 a0001c0001t0009g0074 a0001c0001t0009g0301 others(1): Show a0001c0001t0009g0035 a0001c0001t0009g0074 a0001c0001t0009g0301 a0001c0001t0009g0302	4	312	0.0128	458	c.293 others(477): Show c.293-28693_293-28692insCATATATATAAATATATATATAAATA TATATAAAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATT AAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATA AAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTAT ATATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTAGG TCCTCTGGTTTTGGTTTTTTTTATATATATATATATATTTAGGTCTTCTG GTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATATATA AATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGT ATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99588815	A A	ACATATAT others(451): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0107 a0003c0003t0001g0107	1	364	0.0028	458	c.394 others(473): Show c.394-819_394-818insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MVP_chr16_29815462_29853021	29843550	G G	GAGGGAGG others(451): Show GAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAG TGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGG GAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGG AGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGA GGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAG GAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGG GAGGGAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	230	0.0044	458	c.163 others(475): Show c.1635-924_1635-923insAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGG AGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAA GGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAG GGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGG GAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGT GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGG AGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGA GGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(451): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATAAG TTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAATTA TAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTAT AATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATA ACTTATAAGTTATAATATATAACTTATAATTATAAGTTATAATATATAAC TTATAATTATAAGTTATAATATATAACTTATAATTATAAGTTATAATATA TAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTAT AATTATAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	284	0.0035	458	c.710 others(475): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAATTATAAGTTATATATTATAACTTAT AATTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAA GTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATA TTATAACTTATAAGTTATATATTATAACTTATAATTATAAATTATATATT ATAACTTATAATTAAAAATTATAATATATAACTTATAATTATAAATTATA TATTATAAATTATAATATATAAATTATATATATATTATAAATTTATAATA TATAAATTATATATTATAATTTATAATTTATAATTATAAATTATATATTA TAAATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(451): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCAT CCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGT CTGTCCCATCCATCCGTCCATCCGTCCATCCGTCCATCCATCCATCCATC CATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCC ATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCAT CCTCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00621.hp2 others(56): Show HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02523.hp1 HG02683.hp2 HG03492.hp2 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18985.hp1 NA18992.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 a0001c0001t0029 a0001c0001t0049 a0001c0001t0154 a0001c0001t0155	a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0036 others(56): Show a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0358 a0001c0001t0001g0364 a0001c0001t0014g0031 a0001c0001t0014g0039 a0001c0001t0014g0193 a0001c0001t0014g0233 a0001c0001t0014g0248 a0001c0001t0015g0034 a0001c0001t0015g0169 a0001c0001t0015g0263 a0001c0001t0015g0267 a0001c0001t0015g0327 a0001c0001t0029g0032 a0001c0001t0029g0150 a0001c0001t0029g0184 a0001c0001t0049g0170 a0001c0001t0049g0361 a0001c0001t0154g0181 a0001c0001t0155g0022	59	366	0.1612	458	c.47 others(467): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCATCCGTCCATCCATCCATCCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(451): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCAT CCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGT CTGTCCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATC CATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCC ATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCAT CCTCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02615.hp2 others(4): Show HG01109.hp2 HG02257.hp1 HG02615.hp2 HG02922.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0059 a0001c0001t0060 others(2): Show a0001c0001t0031 a0001c0001t0059 a0001c0001t0060 a0001c0001t0156 a0001c0001t0157	a0001c0001t0031g0061 a0001c0001t0031g0130 a0001c0001t0031g0334 others(4): Show a0001c0001t0031g0061 a0001c0001t0031g0130 a0001c0001t0031g0334 a0001c0001t0059g0121 a0001c0001t0060g0124 a0001c0001t0156g0343 a0001c0001t0157g0290	7	366	0.0191	458	c.47 others(467): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(451): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGT CTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATC CATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCC ATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCAT CCTCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02486.hp1 NA18906.hp2 HG02451.hp1 HG02486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0160 a0001c0001t0051 a0001c0001t0160	a0001c0001t0051g0090 a0001c0001t0051g0101 a0001c0001t0160g0153 a0001c0001t0051g0090 a0001c0001t0051g0101 a0001c0001t0160g0153	3	366	0.0082	458	c.47 others(467): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(451): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCC ACTTGTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGT CCCATCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATTCATCCATT CTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCC ATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTC ATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0342 a0001c0001t0161g0342	1	366	0.0027	458	c.47 others(467): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCTTCCATCCATTCATCCACTT GTTCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCA TCCATCCGTCCATCCGTCCGTCCGTCCATCCATCCATTCATCCATTCTTC CATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCC ATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTATGTAC others(451): Show CTATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTAT GTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATAC TGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGT ATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACAC TATACAGTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0197 a0001c0003t0005g0197	1	362	0.0028	458	c.-75 others(477): Show c.-75+17711_-75+17712insTACTGTATAGTGTATATATACAGTAT ACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATA TACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATAC ACAGTATACATACTGTGTATATATACGGTATACATACTGCATACACAGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACATACAGTATACATACATACAGTATA CATACATACAGTATACATGCTGTACACAGTATACATGCTGTACACAGTAT ACATGCTGTACACAGTATACATGCTGTACATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar

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