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
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(446): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	344	0.0029	453	c.85- others(470): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCTTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(446): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGG ACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGAT CATGGGGACGTGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGG ACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGAT CATG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp2 HG03471.hp2 HG02886.hp1 HG03453.hp2 HG03471.hp2	a0001 a0015 a0001 a0015	a0001c0012 a0015c0036 a0001c0012 a0015c0036	a0001c0012t0005 a0015c0036t0005 a0001c0012t0005 a0015c0036t0005	a0001c0012t0005g0073 a0001c0012t0005g0074 a0015c0036t0005g0083 a0001c0012t0005g0073 a0001c0012t0005g0074 a0015c0036t0005g0083	3	128	0.0234	453	c.177 others(470): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGC ATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATC ATGGGAAGACGTGAGGATCATGGGGACGTGTGAGGATCATGGGGGGGACG TGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATT GGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CROCC2_chr2_240901336_240998311	240924072	A A	AACCCGGC others(446): Show AACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACC CGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACAC TAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACA CTAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCAC ACTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0244 a0004c0004t0002g0257 a0004c0004t0002g0244 a0004c0004t0002g0257	2	350	0.0057	453	c.489 others(470): Show c.489-1489_489-1488insAGCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCA GCCCCCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(446): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0179 a0002c0009t0002g0179	1	367	0.0027	453	c.-42 others(464): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DHX9_chr1_182834347_182892982	182852939	C C	CTTTGAGG others(446): Show CTTTGAGGGATAAACTTTTTTAAATGCATGTAATAAACTTAGAGTTAATA GTCAGTGCTAGCTGCTATTTTTACTTATTTGGCGTTTTCATCAATAGTTA CCTTATTTCCATCACTAGTCCTAGCAGGTAGCTATCTCTTCAGAGTCATA TTTATCAAAGAAATGGTTTTATCATTTAATCTGTTGTTACATATGTAACA AGTTTAAAACAAAGCTATATTGATAATATAGGCTAAATTATCAGCCACTT CCTGTAATTCAACACTAAGATAGCTTCCCCCCTGCATATTAGCCTCAGAA TTTGTAGTTGGAACCTATACTTCAGTGATATAACACTTTTCAAGTAAGCC ATGGACTTTTCAGGCTTCTTTCCAGATTGAAACCATGAATTTCTAAACAT GGAGGGCCAAAATATAAATTAGGATAGTTTTTTTGTTTTTTTTGTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp1 others(12): Show HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01978.hp2 HG02055.hp1 HG02818.hp1 HG02896.hp2 HG02965.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 others(9): Show a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0180 a0001c0002t0003g0133 a0001c0003t0001g0007 a0001c0003t0001g0046 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0202	15	276	0.0544	453	c.365 others(468): Show c.365-364_365-363insGAGGGATAAACTTTTTTAAATGCATGTAAT AAACTTAGAGTTAATAGTCAGTGCTAGCTGCTATTTTTACTTATTTGGCG TTTTCATCAATAGTTACCTTATTTCCATCACTAGTCCTAGCAGGTAGCTA TCTCTTCAGAGTCATATTTATCAAAGAAATGGTTTTATCATTTAATCTGT TGTTACATATGTAACAAGTTTAAAACAAAGCTATATTGATAATATAGGCT AAATTATCAGCCACTTCCTGTAATTCAACACTAAGATAGCTTCCCCCCTG CATATTAGCCTCAGAATTTGTAGTTGGAACCTATACTTCAGTGATATAAC ACTTTTCAAGTAAGCCATGGACTTTTCAGGCTTCTTTCCAGATTGAAACC ATGAATTTCTAAACATGGAGGGCCAAAATATAAATTAGGATAGTTTTTTT GTTTTTTTTGTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHX9_chr1_182834347_182892982	182852939	C C	CTTTGAGG others(446): Show CTTTGAGGGATAAACTTTTTTAAATGCATGTAATAAACTTAGAGTTAATA GTCAGTGCTAGCTGCTATTTTTACTTATTTGGCGTTTTCATCAATAGTTA CCTTATTTCCATCACTAGTCCTAGCAGGTAGCTATCTCTTCAGAGTCATA TTTATCAAAGAAATGGTTTTATCATTTAATCTGTTGTTACATATGTAACA AGTTTAAAACAAAGCTATATTGATAATATAGGCTAAATTATCAGCCACTT CCTGTAATTCAACACTAAGATAGCTTCCCCCCTGCATATTAGCCTCAGAA TTTGTAGTTGGAACCTATACTTCAGTGATATAACACTTTTCAAGTAAGCC ATGGACTTTTCAGGCTTCTTTCCAGATTGAAACCATGAATTTCTAAACAT GGAGGGCCAAAATATAAATTAGGATAGTTTTTTTTTTTTTTTTGTTTGTT TTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG01891.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0181 a0001c0002t0001g0037 a0001c0002t0001g0181	2	276	0.0073	453	c.365 others(468): Show c.365-364_365-363insGAGGGATAAACTTTTTTAAATGCATGTAAT AAACTTAGAGTTAATAGTCAGTGCTAGCTGCTATTTTTACTTATTTGGCG TTTTCATCAATAGTTACCTTATTTCCATCACTAGTCCTAGCAGGTAGCTA TCTCTTCAGAGTCATATTTATCAAAGAAATGGTTTTATCATTTAATCTGT TGTTACATATGTAACAAGTTTAAAACAAAGCTATATTGATAATATAGGCT AAATTATCAGCCACTTCCTGTAATTCAACACTAAGATAGCTTCCCCCCTG CATATTAGCCTCAGAATTTGTAGTTGGAACCTATACTTCAGTGATATAAC ACTTTTCAAGTAAGCCATGGACTTTTCAGGCTTCTTTCCAGATTGAAACC ATGAATTTCTAAACATGGAGGGCCAAAATATAAATTAGGATAGTTTTTTT TTTTTTTTTGTTTGTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHX9_chr1_182834347_182892982	182852939	C C	CTTTGAGG others(446): Show CTTTGAGGGATAAACTTTTTTAAATGCATGTAATAAACTTAGAGTTAATA GTCAGTGCTAGCTGCTATTTTTACTTATTTGGCGTTTTCATCAATAGTTA CCTTATTTCCATCACTAGTCCTAGCAGGTAGCTATCTCTTCAGAGTCATA TTTATCAAAGAAATGGTTTTATCATTTAATCTGTTGTTACATATGTAACA AGTTTAAAACAAAGCTATATTGATAATATAGGCTAAATTATCAGCCACTT CCTGTAATTCAACACTAAGATAGCTTCCCCCCTGCATATTAGCCTCAGAA TTTGTAGTTGGAACCTATACTTCAGTGATGTAACACTTTTCAAGTAAGCC ATGGACTTTTCAGGCTTCTTTCCAGATTGAAACCATGAATTTCTAAACAT GGAGGGCCAAAATATAAATTAGGATAGTTTTTTTGTTTTTTTTGTTTTTT TTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG01070.hp1 others(63): Show HG00140.hp2 HG00597.hp2 HG01070.hp1 HG01106.hp1 HG01192.hp1 HG01261.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp2 HG02132.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp1 HG03942.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18988.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19006.hp1 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19086.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0010t0004 a0001c0012t0001	a0001c0001t0001g0048 a0001c0002t0001g0002 a0001c0002t0001g0009 others(50): Show a0001c0001t0001g0048 a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0038 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0061 a0001c0002t0001g0129 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0216 a0001c0004t0001g0057 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0217 a0001c0004t0001g0218 a0001c0004t0001g0219 a0001c0004t0001g0224 a0001c0010t0004g0223 a0001c0012t0001g0135	66	276	0.2391	453	c.365 others(468): Show c.365-364_365-363insGAGGGATAAACTTTTTTAAATGCATGTAAT AAACTTAGAGTTAATAGTCAGTGCTAGCTGCTATTTTTACTTATTTGGCG TTTTCATCAATAGTTACCTTATTTCCATCACTAGTCCTAGCAGGTAGCTA TCTCTTCAGAGTCATATTTATCAAAGAAATGGTTTTATCATTTAATCTGT TGTTACATATGTAACAAGTTTAAAACAAAGCTATATTGATAATATAGGCT AAATTATCAGCCACTTCCTGTAATTCAACACTAAGATAGCTTCCCCCCTG CATATTAGCCTCAGAATTTGTAGTTGGAACCTATACTTCAGTGATGTAAC ACTTTTCAAGTAAGCCATGGACTTTTCAGGCTTCTTTCCAGATTGAAACC ATGAATTTCTAAACATGGAGGGCCAAAATATAAATTAGGATAGTTTTTTT GTTTTTTTTGTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHX9_chr1_182834347_182892982	182852939	C C	CTTTGAGG others(446): Show CTTTGAGGGATAAACTTTTTTAAATGCATGTAATAAACTTAGAGTTAATA GTCAGTGCTAGCTGCTATTTTTACTTATTTGGCGTTTTCATCAATAGTTA CCTTATTTCCATCACTAGTCCTAGCAGGTAGCTATCTCTTCAGAGTCATA TTTATCAAAGAAATGGTTTTATCATTTAATCTGTTGTTACATATGTAACA AGTTTAAAACAAAGCTATATTGATAATATAGGCTGAATTATCAGCCACTT CCTGTAATTCAACACTAAGATAGCTTCCCCCCTGCATATTAGCCTCAGAA TTTGTAGTTGGAACCTATACTTCAGTGATGTAACACTTTTCAAGTAAGCC ATGGACTTTTCAGGCTTCTTTCCAGATTGAAACCATGAATTTCTAAACAT GGAGGGCCAAAATATAAATTAGGATAGTTTTTTTGTTTTTTTTGTTTGTT TTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01123.hp1 HG01884.hp1 others(14): Show HG01069.hp1 HG01123.hp1 HG01884.hp1 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG03130.hp1 HG03225.hp1 HG03688.hp1 HG03710.hp2 HG04199.hp1 NA19006.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0039 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0134 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211	17	276	0.0616	453	c.365 others(468): Show c.365-364_365-363insGAGGGATAAACTTTTTTAAATGCATGTAAT AAACTTAGAGTTAATAGTCAGTGCTAGCTGCTATTTTTACTTATTTGGCG TTTTCATCAATAGTTACCTTATTTCCATCACTAGTCCTAGCAGGTAGCTA TCTCTTCAGAGTCATATTTATCAAAGAAATGGTTTTATCATTTAATCTGT TGTTACATATGTAACAAGTTTAAAACAAAGCTATATTGATAATATAGGCT GAATTATCAGCCACTTCCTGTAATTCAACACTAAGATAGCTTCCCCCCTG CATATTAGCCTCAGAATTTGTAGTTGGAACCTATACTTCAGTGATGTAAC ACTTTTCAAGTAAGCCATGGACTTTTCAGGCTTCTTTCCAGATTGAAACC ATGAATTTCTAAACATGGAGGGCCAAAATATAAATTAGGATAGTTTTTTT GTTTTTTTTGTTTGTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2C_chr10_269201_694668	608555	C C	CCCCCACA others(446): Show CCCCCACACACACCCCCCCACACACACACCCCCCCCCACACACACGCCCC CCCCCACACACACATCCCCCCCCACACACACATCCCCCCCCACACACACA CATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCC ACACACACACATCCCCCCCCACACACACATCCCCCCCCCCCACACACACA TCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCAC ACACACACATCCCCCCCACACACACACATCCCCCCCACACACACACATCC CCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACACAC ACACATCCCCCCCCCACACACACATCCCCCCCCACACACACACATCCCCC CCCCACACACACATCCCCCCCCCCCACACACACATCCCCCCCCCACACAC ACAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	88	0.0114	453	c.85+ others(470): Show c.85+80938_85+80939insATGTGTGTGTGGGGGGGGGATGTGTGTG TGGGGGGGGGGGATGTGTGTGTGGGGGGGGGATGTGTGTGTGTGGGGGGG GATGTGTGTGTGGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGGGGGGATGTGTGTGTGTGGGGGGGATG TGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGG GGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGGGGATGT GTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGG GGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTG TGTGGGGGGGGATGTGTGTGTGGGGGGGGGCGTGTGTGTGGGGGGGGGTG TGTGTGTGGGGGGGTGTGTGTGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DYNC2I1_chr7_158851558_158951189	158916025	G G	GTCGACAT others(446): Show GTCGACATGCTGGTTGACATTAAGAATGATTGTGAAACCTCGACACGGTG GTTGACATTAAGGATGATTGTGAAACCTCAACACGCTGGTTGAGATTAAG GATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAA ACGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACGGTGG TTGAGATTAAGGATGATTGTGAAACATCAACACGCTGGTTGGCATTAAGG ATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAA CGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCT GGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAA GGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGA AACC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG01975.hp2 others(1): Show HG01123.hp2 HG01346.hp2 HG01975.hp2 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0073 others(1): Show a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0080	4	274	0.0146	453	c.179 others(472): Show c.1791+1706_1791+1707insGACATGCTGGTTGACATTAAGAATGA TTGTGAAACCTCGACACGGTGGTTGACATTAAGGATGATTGTGAAACCTC AACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GAGATTAAGGATGATTGTGAAACGACACGCTGGTTGACATTAAGGATGAT TGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACATCA ACACGCTGGTTGGCATTAAGGATGATTGTGAAACGTCGACACGCTGGTTG AGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATG ATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGT CGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACGGTGGT TGAGATTAAGGATGATTGTGAAACCTC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EML1_chr14_99788413_99947060	99927969	G G	GTGGTGGT others(446): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0265 a0001c0005t0005g0265	1	288	0.0035	453	c.190 others(472): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTG GTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99927999	G G	GTGGTGAT others(446): Show GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATG GTGATGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0226 a0003c0010t0006g0226	1	288	0.0035	453	c.190 others(472): Show c.1909+7127_1909+7128insATGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGATGGTGGT GATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(446): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0054 a0003c0002t0001g0054	1	288	0.0035	453	c.190 others(472): Show c.1909+7355_1909+7356insATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD3_chr9_137301896_137428162	137350020	C C	CTAGATAG others(446): Show CTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGG TGGGGATCACGAGGAGGGGCTAGATAGAGAGGGGTGGGGATCACGGGGAG GGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGA GGGATGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGTGGGGATCACG GGGAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAAGGTGCTAGAT AGAGAGGGGTGGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGA TTACGGGGAGAGAGCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGTGC TAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAGAGAGGGGT GGGGATCACGGGGAAGGTGCTAGATAGAGAGGGGTGGGGATTACGGGGAG GGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01256.hp2 HG00280.hp1 HG00323.hp2 HG01256.hp2	a0007 a0013 a0007 a0013	a0007c0010 a0013c0028 a0007c0010 a0013c0028	a0007c0010t0001 a0013c0028t0001 a0007c0010t0001 a0013c0028t0001	a0007c0010t0001g0021 a0007c0010t0001g0079 a0013c0028t0001g0080 a0007c0010t0001g0021 a0007c0010t0001g0079 a0013c0028t0001g0080	3	82	0.0366	453	c.149 others(470): Show c.1495-490_1495-489insACCCCTCCCCGTAATCCCCACCCCTCTC TATCTAGCACCTTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCC CCGTGATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCCCACCC CTCTCTATCTAGCTCTCTCCCCGTAATCCCCACCCCTCTCTATCTAGCAC CTTCCCCGTGATCCCCACCCCTCTCTATCTAGCACCTTCCCCGTGATCCC CATCCCTCTCTATCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCT AGAACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACCTTCCCCGTG ATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTC TATCTAGCCCCTCCTCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCC CGTGATCCCCACCCCTCTCTATCTA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
FGFR4_chr5_177081915_177103144	177097085	T T	TTCCTCCT others(446): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCT CTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCC TCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTC CTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCT GCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCTTCC TCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCT GCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTCTTC CTCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0197 a0003c0007t0001g0197	1	372	0.0027	453	c.215 others(470): Show c.2154-191_2154-190insCCTCCTCCTCCTCCTCCTCTTCCTCCTC CTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCT TCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTC CTCCTGCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCT CTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCC TCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTC CTCCTGCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCTT CCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCCTCCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FMN2_chr1_240086883_240480187	240185088	T T	TGCCCCTT others(446): Show TGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT GCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTT CTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTA TACC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0037 a0037	a0037c0060 a0037c0060	a0037c0060t0001 a0037c0060t0001	a0037c0060t0001g0140 a0037c0060t0001g0140	1	174	0.0058	453	c.193 others(472): Show c.1931-3119_1931-3118insGCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCT CCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTT TCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT GCCCCTTCTCTTTCTCCCTCCTATACC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17			chr1	TogoVar
FOXN3_chr14_89151177_89422233	89362424	C C	CACTACCA others(446): Show CACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCACCT CCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCAC CACCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCA CCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCC AGCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTC CACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCAGCACCA CCTCCACCACCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAG CACT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	230	0.0044	453	c.544 others(472): Show c.544-11617_544-11616insAGTGCTGGAGGTGGTAGTGGTGGAGG TGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTAGTGCTGGAG GTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGT GGAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGC TGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTG GTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTAGTGCTGGAGGT GGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGG AGGTAGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTG GAGGTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGT GGTGGAGGTAGTGCTGGAGGTGGTAGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(446): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATAGTATATATACACTATATATACACTATATATGTATATATAT ACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATATA GTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATATA TACACTATACACTGTATATGTATATATAGTGTATATATACACTATACACT GTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATATA TAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATATA CACTATATATACACTATATAGTGTATATATAGTATATATATACTGTATAT ATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	204	0.0049	453	c.114 others(472): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTAT ATATACACTATATATACACTATATATGTATATATATACATATATAGTGTA TATATAGTGTATATATACTATATATAGTGTATATATACTATATATATAGT GTATATACACTATATATATAGTGTATATATACTATATATAGTGTATATAT ACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241806532	A A	ACCCTCCC others(446): Show ACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	314	0.0032	453	c.23 others(464): Show c.2366_*2367insCCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2246		chr2	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(446): Show AGGCTGGGGAGACTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGGTG GGGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCT GGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0043 a0004c0004t0003g0043	1	236	0.0042	453	c.148 others(470): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCCAGCCTCCCCAGACT CCCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCC CCCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGC CTCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCC TCCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCC TTCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCC TCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCC CCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACC CCCAACCTCCCCAGTCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(446): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGGTG GGGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCT GGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(5): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG01496.hp1 HG02602.hp2 HG02622.hp1 HG03710.hp2 NA18985.hp1	a0001 a0002 a0021 others(1): Show a0001 a0002 a0021 a0025	a0001c0001 a0001c0005 a0002c0006 others(2): Show a0001c0001 a0001c0005 a0002c0006 a0021c0045 a0025c0044	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0002c0006t0001 a0002c0006t0005 a0021c0045t0004 a0025c0044t0002	a0001c0001t0001g0197 a0001c0001t0005g0121 a0001c0005t0001g0188 others(5): Show a0001c0001t0001g0197 a0001c0001t0005g0121 a0001c0005t0001g0188 a0002c0006t0001g0161 a0002c0006t0001g0213 a0002c0006t0005g0111 a0021c0045t0004g0100 a0025c0044t0002g0172	8	236	0.0339	453	c.148 others(470): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCCAGCCTCCCCAGACT CCCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCC CCCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGC CTCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCC TCCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCC TTCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCC TCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCC CCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACC CCCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(446): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGAGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGG GGGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCT GGGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0013 a0002c0006t0013	a0002c0006t0013g0059 a0002c0006t0013g0059	1	236	0.0042	453	c.148 others(470): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCCACCCCCCCAGCCTCCCCAGACT CCCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCC CCCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGC CTCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCC TCCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCC TTCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCC TCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCC CCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACC CCCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(446): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGA AGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGA GGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGG CAGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAGG GAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGGTG GGGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCT GGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01261.hp1 HG03927.hp2 others(1): Show HG00558.hp2 HG01261.hp1 HG03927.hp2 NA18972.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0015c0022	a0001c0001t0002 a0002c0002t0001 a0003c0003t0004 others(1): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0004 a0015c0022t0002	a0001c0001t0002g0196 a0002c0002t0001g0120 a0003c0003t0004g0203 others(1): Show a0001c0001t0002g0196 a0002c0002t0001g0120 a0003c0003t0004g0203 a0015c0022t0002g0089	4	236	0.0170	453	c.148 others(470): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCCAGCCTCCCCAGACT CCCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCC CCCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGC CTCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCC TCCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCC TTCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCC TCCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCC CCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACC CCCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(446): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGG GGAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGG GAGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAG AAGGCTGGGGGGCTGGGGTGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGG AGGCTGGGGGGCTGGGGCGCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGG GCAGGCTGAGGAGGTGGGGAGGCTGGGGGGGCAAGGGGTGGGGGAGGTAG GGAGGCTGGGGAGGCTGGGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTG GGGGGCTAGGAGGTGGGGGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCT GGGG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0225 a0003c0003t0002g0225	1	236	0.0042	453	c.148 others(470): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCCACCTCCCCAGCCTCCCCAGACTCCCAGCACC CCCAACCTCCCCAGCCTCCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(446): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACCACACA CACCACACACATATACGCATACACCCATACACACACATCATACACACACA TACACCACACACACCACACACGCACACCACACACATATACACACATACAC CCATGCACACACATCATACACACACAAACCACACATACCACACACATACA CCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(28): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01192.hp2 HG01891.hp1 HG01978.hp1 HG01981.hp2 HG02109.hp1 HG02258.hp1 HG02630.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03688.hp1 HG03831.hp2 HG04228.hp1 NA18950.hp2 NA18957.hp1 NA18982.hp1 NA18999.hp1 NA19082.hp1 NA19083.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0252 a0001c0001t0002g0012 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0252 a0001c0001t0002g0012 a0001c0001t0002g0031 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0053 a0001c0001t0002g0073 a0001c0001t0002g0112 a0001c0001t0002g0156 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0291 a0001c0001t0002g0297 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0316	31	414	0.0749	453	c.32 others(464): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGGTGTGCG TGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGT ATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTATGATGTGTGTGTA TGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGT GTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGTGT GCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGATGT GTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGTGT GTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGTGT GTGTGTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAA others(446): Show ATATATAAATATATATATTTATATTTATTTTTATATATATAAATATATAT ATTTATATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTGTATATATATAAATATATATATTTATATATATAT ATTTTATACATATAAATATATATTATAAATATATATTTATACATATAAAT ATATATTATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATATATAAATATATATATTTA TATTTATTTATATATATATAAATATATATTTATATATAAATATATATATT TATATTTATTTCTATATATAAATATATATATTTATATATAAATATATATT TATATATATAAATATATATGTTTATATTTATAAATATATATATTTATATA TATT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0033 a0001c0003t0007g0033	1	208	0.0048	453	c.-97 others(470): Show c.-97-2616_-97-2615insAATATATATATTTATATTTATTTTTATA TATATAAATATATATATTTATATATATATAAATAAATATAAATATATATA TTTATATGTATATATATAAATATATATATTTGTATATATATAAATATATA TATTTATATATATATATTTTATACATATAAATATATATTATAAATATATA TTTATACATATAAATATATATTATAAATATATATATTTATATTTATTTAT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATTTATATTTATTTATATATATATAAATATATATTTATAT ATAAATATATATATTTATATTTATTTCTATATATAAATATATATATTTAT ATATAAATATATATTTATATATATAAATATATATGTTTATATTTATAAAT ATATATATTTATATATATTTATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(446): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATATAGTTATATATTATATACATGTATATAACATA TAGTTATATATTATATACATGTATATAACATATAGTTATGTATATTATAT ACATGTATATAACATATAGTTATGTATATTATATACATGTATATAACATA TAGTTATGTATATTATATACATGTATATAACATATAGTTATGTATATTAT ATACATGTATATAACATATAGTTATGTATATTATATACATGTATATAACA TATAGTTGTGTATATTATATACATGTATATAACATATAGTTGTGTATATT ATATACATGTATATAACATATAGTTATGTATATTATATACATGTATATAA CATAGTTATATACATATAACTATATGTATATAATATATAGTACATGTATA TAAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0060 a0001c0001t0013g0061 a0001c0001t0013g0060 a0001c0001t0013g0061	2	256	0.0078	453	c.183 others(472): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATACACAACTATATGTTAT ATACATGTATATAATATACACAACTATATGTTATATACATGTATATAATA TACATAACTATATGTTATATACATGTATATAATATACATAACTATATGTT ATATACATGTATATAATATACATAACTATATGTTATATACATGTATATAA TATACATAACTATATGTTATATACATGTATATAATATACATAACTATATG TTATATACATGTATATAATATATAACTATATGTTATATACATGTATATAA TATATAACTATATGTTATATACATGTATATAATATATAACTATATGTTAT ATACATGTATATAATATATAACTATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HPCAL1_chr2_10297904_10432604	10399538	C C	CCACCACC others(446): Show CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ATCATCACCACCATCACCACCACCACCATCACCACCACCACCACCATCAC CACCACCATCACCATCATCACCGCCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCATCATCACCACCATCATCACCGCCGCCACCACC ACCACCACCGCCGCCGCCGCCGCCACTGCCGCCACCACCACCACCATCAC CATCATCACCGCCGCCACCACCACCACCATCACCACCACAACCACCACCA CCACCATCACCACCACTACCATCACCACCACCATCACCACCACTACCATC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCAT CACCACCACCACCACCATCACCATCATCACCACCATCACCGCCACCATCA CCAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	314	0.0032	453	c.-25 others(470): Show c.-25+2623_-25+2624insCCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCATCATCACCACCATCACCACCACCACCATCACCA CCACCACCACCATCACCACCACCATCACCATCATCACCGCCACCACCACC ACCATCACCACCACCATCACCATCACCACCACCATCATCACCACCATCAT CACCGCCGCCACCACCACCACCACCGCCGCCGCCGCCGCCACTGCCGCCA CCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACC ACCACAACCACCACCACCACCATCACCACCACTACCATCACCACCACCAT CACCACCACTACCATCATCACCACCACCACCACCACCACCATCACCACCA CCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACCACC ATCACCGCCACCATCACCATCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(446): Show TAATATATATATGGAATATATATATACGGAATGTATATATAATATATATA CGGAATATATATATACGGAATGTATATATAATATATATACGGAATATATA TATACGGAATGTATATATAATATATATACGGAATATATATATACGGAATG TATATATACGGAATATATATACGGAATGTATATATGGAACATATATACGG AATATATATATATGGAACATATATATGTGGAACATATATATGTGGAACAT ATATATGTGGAACATATATATGTGGAACATATATATGTGGAACATATATA TGGAAAATATATACGTGGAATATATATATGGAAAATATATACGTGGAATA TATATATGGAAAATATATACGTGGAATATATATATGGAAAATATATACGT GGAATATATATATGGAATATATACGTGGAATATATATATGGAATATATAC GTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0030 a0003c0003t0030	a0003c0003t0030g0132 a0003c0003t0030g0132	1	323	0.0031	453	c.-21 others(464): Show c.-2147_-2146insAATATATATATGGAATATATATATACGGAATGTA TATATAATATATATACGGAATATATATATACGGAATGTATATATAATATA TATACGGAATATATATATACGGAATGTATATATAATATATATACGGAATA TATATATACGGAATGTATATATACGGAATATATATACGGAATGTATATAT GGAACATATATACGGAATATATATATATGGAACATATATATGTGGAACAT ATATATGTGGAACATATATATGTGGAACATATATATGTGGAACATATATA TGTGGAACATATATATGGAAAATATATACGTGGAATATATATATGGAAAA TATATACGTGGAATATATATATGGAAAATATATACGTGGAATATATATAT GGAAAATATATACGTGGAATATATATATGGAATATATACGTGGAATATAT ATATGGAATATATACGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(446): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCC TCCCCCATCCCCTCCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCT CCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCC CCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCC CCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTT CCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCC CCTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0058 a0002c0023t0001g0058	1	158	0.0063	453	c.11 others(474): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCCTCTCCCCTCCCCCTCTCTCCCCC TCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCCTCTCTCTCCCCCT CTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCC CTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTC CTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCT CTCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(446): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCCTC CCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCC CCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCC CCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTT CCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCC CCTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0157 a0002c0010t0002g0157	1	158	0.0063	453	c.11 others(474): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTC TCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCC TCCCCCTCCCCCTCCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTC CTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCT CTCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(446): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAA AAACCTTCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAA ATTTTTAGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGT TATTTAATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTA GCACTTTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGAC CAGCCTGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAATT AGGCAGGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGA AGTGGGAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGA TCGCACCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAA AAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0170 a0003c0003t0001g0170	1	310	0.0032	453	c.448 others(472): Show c.448-14511_448-14510insTTTTTTTAAGAGGAGGTTTCTCTCTG TTGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTA CCTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGA CTACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAA ACAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCG TTTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCAC CATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTT TAACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAG GTTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(446): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACACCACACACACCACACATGCACACCACACACATATAC ACACATACACCCATACACACACATCATACACACACACACCACACACATAC ACCACACACACCACACATGCACACACACCACACACATATATACGCATACA CCCATACACACATCATACACACACCACACACACCACACATGCACACCACA CACATACACGCATACACCCATACACACACATCATACACACACACCACACA CACCACACACATATACGCATACACCCATACACACACATCATACACACACA TACACCACACACACCACACACGCACACCACACACATATACACACATACAC CCATGCACACACATCATACACACACAAACCACACATACCACACACATACA CCAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(25): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01192.hp2 HG01891.hp1 HG01978.hp1 HG01981.hp1 HG02109.hp1 HG02258.hp1 HG02630.hp2 HG02896.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG04228.hp1 NA18950.hp2 NA18957.hp1 NA18982.hp1 NA18999.hp1 NA19082.hp2 NA19083.hp2 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 others(4): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0002c0002t0017 a0005c0005t0005 a0005c0005t0010	a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0049 others(9): Show a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0049 a0001c0001t0010g0014 a0001c0001t0012g0050 a0001c0001t0012g0052 a0001c0001t0018g0047 a0002c0002t0017g0130 a0005c0005t0005g0019 a0005c0005t0005g0048 a0005c0005t0005g0051 a0005c0005t0010g0029	28	400	0.0700	453	c.-39 others(470): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTATATGTGTGTGG TGTGCGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTAT GGGTGTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTATGATGTG TGTGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTG TGGTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGT GTGTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTA TGATGTGTGTGTATGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTG TGGTGTGTGTGGTGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTG GTGTGTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(446): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCACTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCT CTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA19005.hp1 NA18995.hp2 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	370	0.0054	453	c.-27 others(464): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(446): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAGGTGGAAGGAAGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAG GGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGA GGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGG GAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAG GGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGA AGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAA AGGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02559.hp2 HG02723.hp2	a0012 a0012	a0012c0006 a0012c0006	a0012c0006t0002 a0012c0006t0002	a0012c0006t0002g0022 a0012c0006t0002g0037 a0012c0006t0002g0022 a0012c0006t0002g0037	2	88	0.0227	453	c.507 others(472): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAGGTGGAAGGAAGGAAGGAAGGAAGGA AAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAA GGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGA AGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAA GGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LCN15_chr9_136754634_136769518	136769219	C C	CCCCCCCC others(446): Show CCCCCCCCCGCCACCCCCGCCACCCCTCCATGCACTGGCCCTCCCGCCAC CCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGC CCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCA CTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCA TGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCC TCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCA CCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCC GCCACCCCTCCATGCACTGCCCCCCGCCACCCCCCCATGCACTGCCCCCC CCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCCCTCCATGC ACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0017 a0003c0005t0001g0017	1	356	0.0028	453	c.-47 others(464): Show c.-4732_-4731insCAGTGCATGGAGGGGTGGCGGGGGGCAGTGCATG GAGGGGTGGCGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGG GCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGG GGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGG CGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGG GTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGG AGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGC ATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCA GTGCATGGAGGGGTGGCGGGGTGGCGGGAGGGCCAGTGCATGGAGGGGTG GCGGGGGTGGCGGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4702		chr9	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(446): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGGGGGGGAGGAGGGAGAGAA GGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAA GAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGCG GAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAAA AGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAGG AGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAAA GGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGGG AGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAAG AGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG03130.hp2 others(3): Show HG02280.hp1 HG02723.hp2 HG03130.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0008 a0029 a0008 a0029	a0008c0008 a0008c0014 a0029c0025 a0008c0008 a0008c0014 a0029c0025	a0008c0008t0001 a0008c0014t0001 a0029c0025t0001 a0008c0008t0001 a0008c0014t0001 a0029c0025t0001	a0008c0008t0001g0021 a0008c0008t0001g0024 a0008c0008t0001g0025 others(3): Show a0008c0008t0001g0021 a0008c0008t0001g0024 a0008c0008t0001g0025 a0008c0014t0001g0020 a0008c0014t0001g0022 a0029c0025t0001g0023	6	280	0.0214	453	c.641 others(468): Show c.641+260_641+261insTCCTCTTCCTCCTGTTCCTCCTCTCCCTTC TCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCCTTCTCTCTC TTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTCCTCACCC TTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCCTTCCTTC TCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCTTCCCCTC CTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCTTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCCTCCCTC TTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTC CCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(446): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02451.hp1 HG03098.hp2 others(4): Show HG00673.hp2 HG02451.hp1 HG03098.hp2 HG03471.hp2 NA18945.hp2 NA19000.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0046 a0001c0001t0001g0201 a0001c0001t0002g0025 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0201 a0001c0001t0002g0025 a0001c0001t0003g0167 a0001c0001t0007g0185 a0001c0001t0007g0209 a0001c0002t0002g0211	7	250	0.0280	453	c.225 others(470): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAA AGGGAGGAGAGAGAGATAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(446): Show AAAGGGAGGAGAGAGACGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGATAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0199 a0001c0003t0002g0199	1	250	0.0040	453	c.225 others(470): Show c.225-2394_225-2393insAAGGGAGGAGAGAGACGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGATAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAA AGGGAGGAGAGAGAGATAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(446): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAG AGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAA AGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAG AGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAG GAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0213 a0001c0004t0022g0213	1	250	0.0040	453	c.225 others(470): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGG AAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
NEU4_chr2_241804193_241822413	241806532	A A	ACCCTCCC others(446): Show ACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0108 a0002c0003t0002g0108	1	319	0.0031	453	c.-27 others(464): Show c.-2746_-2745insCCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2660		chr2	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTC others(446): Show TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCC TGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCT GGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGG GGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGG CTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAG CCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC ACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	453	c.26 others(464): Show c.2689_*2690insGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTC TGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTA TGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTG TGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTG TCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(446): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	356	0.0028	453	c.91+ others(466): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAG TCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739723	C C	CGATCCCC others(446): Show CGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCTCACCTCCC AGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGAG GGCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0202	1	378	0.0027	453	c.-14 others(470): Show c.-14-8509_-14-8508insTCCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGACA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCTGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGAGGGCTGA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(446): Show TCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0237 a0001c0001t0030g0237	1	242	0.0041	453	c.360 others(472): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PALLD_chr4_168492052_168933441	168738666	G G	GGTGATCC others(446): Show GGTGATCCACCCACCTCGGCCTCCCCAAATGCTGGGATTACAGGTGTGAG CCACCGTGCCCAACCAGTGTTCTCTCTACTTTTCTTTTCTTACTGCTACC ACCCTGTTGTAGGCCTGGACATCTCACTTCTAAGTGCTCCACAACATCTA AACTGATCTTTCTCCCTTCAGTGTCTCCCCATGTTAATCCTTCTTAAACT CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGTCTAATTTTTTTTGTATTTTT AGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGA CCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG01884.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0009 a0001c0001t0005g0097 a0001c0001t0003g0009 a0001c0001t0005g0097	2	156	0.0128	453	c.196 others(474): Show c.1964+26750_1964+26751insACCCACCTCGGCCTCCCCAAATGC TGGGATTACAGGTGTGAGCCACCGTGCCCAACCAGTGTTCTCTCTACTTT TCTTTTCTTACTGCTACCACCCTGTTGTAGGCCTGGACATCTCACTTCTA AGTGCTCCACAACATCTAAACTGATCTTTCTCCCTTCAGTGTCTCCCCAT GTTAATCCTTCTTAAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCCCGCCATTCTCCTGCC TCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGTCT AATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCBP3_chr21_45638725_45947450	45910134	C C	CCCGCCCA others(446): Show CCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGG ACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCC AGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCC CCCCACACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGAT ACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGC CCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACC CACTGCCCAGATATGGACCTGGCCACCCACTGCCCAGATACGGACCCCCC GCCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	292	0.0034	453	c.471 others(468): Show c.471+648_471+649insCCGCCCACTGCCCAGATACGGACCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGA CCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGA TACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCC CAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCC ACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCC CCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATG GACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAG ATACGGACCCCCCCCCACCCACTGCCCAGATATGGACCTGGCCACCCACT GCCCAGATACGGACCCCCCGCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCSK6_chr15_101298933_101494707	101311711	C C	CCCCTCAC others(446): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CACCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTC ACCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGT CACA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0141 a0001c0003t0007g0141	1	336	0.0030	453	c.269 others(472): Show c.2699+1664_2699+1665insTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGG GGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAG GGGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(446): Show GCTACCCCTGCCCCCGGGCTCTCACCCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCCGGCTCTCACCCGCTACCCCGGCCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACACCCGCTACCCCTG CCCCCGGCTCTCACCCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CCGGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCCGGCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCC CTACCCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCA CTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	376	0.0027	453	c.15 others(464): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGG GTGAGAGCCGGGGCCGGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGCCCGGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGGTGAG AGCCCGGGGGCAGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTC others(446): Show TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCC TGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCT GGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGG GGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGG CTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAG CCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGC ACCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0202 a0002c0017t0001g0202	1	408	0.0025	453	c.-10 others(470): Show c.-10+1012_-10+1013insGTGTGTCTGGCTAGCCTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTG TATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTG TGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTG TGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar

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