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
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(221): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTCTATTTATATATATATAT ATTTATATATATAGAAATATATATATATTTATATATATATAAAATATATA TTTATATATATATAAAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	400	0.0025	228	c.532 others(243): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATAAATAGAAATATATATATATTTATATATATAGAAATATA TATATATTTATATATATAGAAATATATATATATTTATATATATAGAAATA TATATATATTTATATATATAGAAATATATATATTTATATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(222): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATAATTATAT ATAATATATAATATAATTATATATAATATATAATATATAATATAATTATA TATAATATATAATATATAATATATTATATAAAATATATAATATATTATAT AATTATATATTATATATATTATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	274	0.0037	229	c.-35 others(240): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATATATTATATATTATATATTATATATA ATTATATTATATATTATATATTATATATAATTATATTATATATTATATAT AATTATATTATATATTATATATAATTATATTATATATTATATATAATTAT ATTATATATTATATATAATTATATTATATATTATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(222): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAGAGAGAGA GAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAAGAAAGAAAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0281 a0003c0003t0001g0281	1	376	0.0027	229	c.-11 others(240): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA AGAAAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABR_chr17_998519_1184981	1117961	C C	CCCAGCGT others(222): Show CCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATTGCCTGAGCC TGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCA GCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTC CTCCCAGCGTTATCCCTGAGCCTGAGTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0161 a0001c0001t0020g0161	1	337	0.0030	229	c.246 others(246): Show c.246+7221_246+7222insAGGACTCAGGCTCAGGGATAACGCTGGG AGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACT CAGGCTCAGGCAATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173150	A A	ACCCAACA others(222): Show ACCCAACACATCACCTCAGTCAACGCAACACATCACCTCAGTCCACTCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCT CAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCA GTCCACCCCCCCGACATCACCTCAGCCCAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0204 a0001c0001t0006g0204	1	337	0.0030	229	c.61+ others(244): Show c.61+6516_61+6517insGTGGGCTGAGGTGATGTCGGGGGGGTGGAC TGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTG AGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTG TTGAGTGGACTGAGGTGATGTGTTGCGTTGACTGAGGTGATGTGTTGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCCA others(222): Show CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0131 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0131 a0002c0002t0003g0191 a0002c0002t0003g0192	3	388	0.0077	229	c.33+ others(246): Show c.33+13581_33+13582insACCTCCCTCCCGGATGGGGCGGCTGGCC GGGTGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGGCTGACCCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC C	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(222): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATAGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp1 HG01496.hp1 HG02486.hp1	a0001 a0001	a0001c0014 a0001c0018 a0001c0014 a0001c0018	a0001c0014t0034 a0001c0018t0016 a0001c0014t0034 a0001c0018t0016	a0001c0014t0034g0017 a0001c0018t0016g0223 a0001c0014t0034g0017 a0001c0018t0016g0223	2	228	0.0088	229	c.259 others(250): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCC ATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CTATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(222): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00741.hp1 others(16): Show HG00140.hp2 HG00423.hp2 HG00741.hp1 HG01358.hp1 HG01981.hp1 HG02004.hp1 HG02080.hp1 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02630.hp1 HG03017.hp1 HG03688.hp2 HG03831.hp1 NA18943.hp2 NA18964.hp1 NA18975.hp1 NA18988.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0005 a0001c0014 others(11): Show a0001c0002 a0001c0005 a0001c0014 a0001c0017 a0002c0001 a0002c0004 a0002c0022 a0003c0013 a0003c0019 a0004c0003 a0004c0008 a0005c0024 a0005c0026 a0006c0056	a0001c0002t0011 a0001c0002t0019 a0001c0005t0011 others(14): Show a0001c0002t0011 a0001c0002t0019 a0001c0005t0011 a0001c0014t0006 a0001c0017t0002 a0002c0001t0002 a0002c0004t0002 a0002c0004t0004 a0002c0022t0005 a0003c0013t0003 a0003c0013t0044 a0003c0019t0001 a0004c0003t0001 a0004c0008t0001 a0005c0024t0002 a0005c0026t0058 a0006c0056t0029	a0001c0002t0011g0160 a0001c0002t0019g0026 a0001c0005t0011g0179 others(16): Show a0001c0002t0011g0160 a0001c0002t0019g0026 a0001c0005t0011g0179 a0001c0014t0006g0122 a0001c0017t0002g0156 a0002c0001t0002g0174 a0002c0004t0002g0125 a0002c0004t0004g0151 a0002c0022t0005g0097 a0003c0013t0003g0038 a0003c0013t0044g0078 a0003c0019t0001g0152 a0004c0003t0001g0197 a0004c0008t0001g0100 a0004c0008t0001g0163 a0005c0024t0002g0135 a0005c0024t0002g0153 a0005c0026t0058g0109 a0006c0056t0029g0033	19	228	0.0833	229	c.259 others(250): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCC ATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011336	G G	GGGAAGGA others(222): Show GGGAAGGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GTGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0005 a0005	a0005c0075 a0005c0075	a0005c0075t0071 a0005c0075t0071	a0005c0075t0071g0187 a0005c0075t0071g0187	1	228	0.0044	229	c.259 others(250): Show c.2592-13748_2592-13747insTCTCCCTCCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCT TCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTC CTTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AGL_chr1_99845361_99929020	99890378	T T	TTTTTTTT others(222): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGGGTGCAGTGGCGCGACCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GGCGGGGTTTCACCGCGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp1 HG02602.hp1 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0006 a0002c0007t0006 a0002c0003t0006 a0002c0007t0006	a0002c0003t0006g0046 a0002c0007t0006g0269 a0002c0003t0006g0046 a0002c0007t0006g0269	2	318	0.0063	229	c.281 others(246): Show c.2813-841_2813-840insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGCGCGACC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCCGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGG T	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATAAT others(222): Show TATATAATATATGTTATATATTATATATAATATATGTTATATATATTATA TATTATATGTTATATATATTATATATAATATGTTATATATATTATATATA ACATGTTATATATAATATATATGTTATATATTATATATAATATATGTTAT ATATATTATATATAATATATGTTATATATAATATATATAACATATGTTAT ATATAATATATATAATATATATGATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	284	0.0035	229	c.891 others(248): Show c.891+27342_891+27343insTATATGTTATATATTATATATAATAT ATGTTATATATATTATATATTATATGTTATATATATTATATATAATATGT TATATATATTATATATAACATGTTATATATAATATATATGTTATATATTA TATATAATATATGTTATATATATTATATATAATATATGTTATATATAATA TATATAACATATGTTATATATAATATATATAATATATATGATATATAATA TAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARFGAP1_chr20_63267813_63294790	63294179	G G	GGGGGGAG others(222): Show GGGGGGAGTGCGGGGGAGGGAGTGTGGGGGGAGGGGAGTGCGGGGGAGGG GGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGG GGAGTGCGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGG GGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGG GGCTGCCGAGGAGCGGGAGTGTGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	342	0.0029	229	c.63 others(240): Show c.6306_*6307insGGGGGAGTGCGGGGGAGGGAGTGTGGGGGGAGGG GAGTGCGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGG AGTGCGGGGGAAGGGGGAGTGCGGGGGAGGGGGAGTGTGGGGGGGAGGGG AGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGA GTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGGAGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4390		chr20	TogoVar
ARHGAP28_chr18_6724716_6920716	6909301	T T	TTTTCTTT others(222): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0048 a0003c0004t0001g0048	1	248	0.0040	229	c.209 others(246): Show c.2095+280_2095+281insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT T	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASCC1_chr10_72091032_72221276	72198299	A A	AGGGAGGG others(222): Show AGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGG GGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGG AGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGG ACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGGAGGGT GAGGGGAGGGGAGGGGGGAGGGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	216	0.0046	229	c.311 others(246): Show c.311-1311_311-1310insCTCTCCTCCCCTCCCCCCTCCCCTCCCC TCACCCTCCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCCTCCCCTCCCC GTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTCCCCTCCCC CTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCCCTCCCCGT CCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCCCCTCCCCTCC C	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASGR2_chr17_7096326_7119822	7112076	G G	GGAGGGGA others(222): Show GGAGGGGAGGGGGAGAGGGGAGGGGGGAGAGGGATGGAGGGGGAGGGGCA GGGGAGGGGGAGGAGGGAGAGGGAGGGATGGGGAGGGGAGGGGGAGGAGA GGAGGAAGGGAGAGGGGGAGGGGGAGGGAGAGGGAAGGGGAGGGGGAGGG AGAGGGGGAGGGGAGAGGGAGGGGAGGGAGAGGGAGGGGGGAGTGCGAGG GGAGGGGGAGGGGAGAGGGAGGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp2 NA18943.hp1 others(11): Show HG00597.hp1 HG02080.hp2 NA18943.hp1 NA18949.hp1 NA18951.hp2 NA18957.hp1 NA18964.hp2 NA18968.hp1 NA18972.hp2 NA18997.hp1 NA18999.hp2 NA19005.hp2 NA19006.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0020 a0001c0001t0004g0307 a0001c0001t0004g0308 others(9): Show a0001c0001t0004g0020 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0002t0004g0302	14	432	0.0324	229	c.124 others(246): Show c.124+2040_124+2041insTCCCTCCCCCTCCCTCTCCCCTCCCCCT CCCCTCGCACTCCCCCCTCCCTCTCCCTCCCCTCCCTCTCCCCTCCCCCT CTCCCTCCCCCTCCCCTTCCCTCTCCCTCCCCCTCCCCCTCTCCCTTCCT CCTCTCCTCCCCCTCCCCTCCCCATCCCTCCCTCTCCCTCCTCCCCCTCC CCTGCCCCTCCCCCTCCATCCCTCTCCCCCCTCCCCTCTCCCCCTCCCCT C	ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	2/8			chr17	TogoVar
ATG10_chr5_81967023_82261133	82140243	G G	GGGGTGTC others(222): Show GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG03471.hp1 HG02055.hp2 HG03225.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0166 a0003c0003t0001g0049 a0001c0001t0001g0009 a0001c0001t0001g0166 a0003c0003t0001g0049	3	226	0.0133	229	c.217 others(248): Show c.217-24153_217-24152insTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707189	A A	ATATTATA others(222): Show ATATTATATATAATATTATATATAATATAATATATATTATATAATATAAT ATATTATATATAATATATTATATTATATATAATATTATATATAATATAAT ATATATTATATAATATAATATATTATATATAATATTATATAATATAATAT ATTATATATAATATAATATATTATATATAATATATTATATATTATATTAT ATATAATATATTATATTATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02630.hp1 others(2): Show HG02451.hp2 HG02486.hp1 HG02630.hp1 HG03540.hp1 NA18522.hp1	a0001 a0007 a0001 a0007	a0001c0005 a0001c0008 a0001c0010 others(1): Show a0001c0005 a0001c0008 a0001c0010 a0007c0017	a0001c0005t0002 a0001c0008t0002 a0001c0010t0002 others(1): Show a0001c0005t0002 a0001c0008t0002 a0001c0010t0002 a0007c0017t0002	a0001c0005t0002g0043 a0001c0008t0002g0100 a0001c0010t0002g0197 others(2): Show a0001c0005t0002g0043 a0001c0008t0002g0100 a0001c0010t0002g0197 a0001c0010t0002g0198 a0007c0017t0002g0323	5	376	0.0133	229	c.243 others(246): Show c.2430-473_2430-472insATATATTCTATATAATATAATATATTAT ATATAATATAATATATAATATATTATATATAATATATTATATTATATATA ATATATTATATTATATAATATTATATATAATATATTATATTATATAATAT ATATTATATTATATATAATATTATATATAATATAATATATTATATATAAT ATATTATATTATATAATATATATTATATTATATATAATATTATATATAAT A	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(222): Show GAGGGGGGAGGGGGAGGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGG GGGGAGGGGGAGGGAGGGGGAGGGAGGAGGGGGAGGGGGGAGGGGGAGGG GGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGAGAGGGGGGAGGGGAGGGG GAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGAT GGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0131 a0001c0008t0002g0131	1	298	0.0034	229	c.51+ others(242): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCC CTCCCCCTCCCCCCTCCCCCTCCTCCCTCCCCCTCCCTCCCCCTCCCCCC TCCCCCTCCCTCCCCCTCCCCCCTCTCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(222): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGAGAGGGGGGAGGGGGAGGG GGAAGGAGAGGGGGGATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGGGGGAGGGGAGGGGG AGAGGGGGGAGGGAGAGGGGGGAGGGAGATGGACTGGGGAGGAGGGGGAT GGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	298	0.0034	229	c.51+ others(242): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCCTCTCCCTCCCCCCTCTCC CCCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTTCCCC CTCCCCCTCCCCCCTCTCCCCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(222): Show GGGAGGGAGAGGGGGGGAGGAGGGAGGGAGAGGGGGGAGGGGGGAGGGGG AGGGAGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGAGAGGGGGGA TGGGGATGGGGGAGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGG GGAGAGGGGGGAGGGGAGGGGGAGGGAGATGGACTGGGGAGGAGGGGGAT GGACTGGGGAGGAGGTGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0287 a0001c0003t0003g0287	1	298	0.0034	229	c.51+ others(242): Show c.51+438_51+439insTCCCCAGTCCATCCACCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCTCCCCCATCCCCATC CCCCCTCTCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCTCCCTCC CCCTCCCCCCTCCCCCCTCTCCCTCCCTCCTCCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(222): Show ATATATTTATAATAAATATTATATATTATATATTTATAATAAATATTATA TATTATATATTTATTATAAATATTATATATTATATATTTATAATAAATAT TATATATTATATATTTATTATAAATATTATATATTATATTTATAATAAAT ATTATATATTATATATTATATTTATAATAAATATAATATATTATATATTA TATTTATTATAAATATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02559.hp2 others(4): Show HG01891.hp2 HG02145.hp1 HG02559.hp2 HG02717.hp1 HG03195.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0030	a0001c0001t0004g0287 a0001c0001t0006g0155 a0001c0001t0009g0086 others(4): Show a0001c0001t0004g0287 a0001c0001t0006g0155 a0001c0001t0009g0086 a0001c0001t0009g0159 a0001c0001t0016g0037 a0001c0001t0016g0154 a0001c0001t0030g0029	7	290	0.0241	229	c.426 others(248): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATTATAAATATTATATATTATATATTTATAATAAATATTATATATTAT ATATTTATTATAAATATTATATATTATATTTATAATAAATATTATATATT ATATATTATATTTATAATAAATATAATATATTATATATTATATTTATTAT AAATATTATATATTATATATTATATTTATAATAAATATTATATATTATAT ATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(222): Show ATATATTTATAATAAATATTATATATTATATATTTATAATAAATATTATA TATTATATATTTATTATAAATATTATATATTATATATTTATAATAAATAT TATATATTATATATTTATTATAAATATTATATATTATATTTATAATAAAT ATTATATATTATATATTATATTTATAATAAATATTATATATTATATATTA TATTTATAATAAATATAATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0151 a0001c0002t0005g0151	1	290	0.0035	229	c.426 others(248): Show c.426+35691_426+35692insTATAATAAATATTATATATTATATAT TTATTATAAATATTATATATTATATATTTATAATAAATATTATATATTAT ATATTTATTATAAATATTATATATTATATTTATAATAAATATTATATATT ATATATTATATTTATAATAAATATTATATATTATATATTATATTTATAAT AAATATAATATATTATATATTATATTTATAATAAATATTATATATTATAT ATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BOK_chr2_241553745_241579131	241570830	C C	CTCTGAGC others(222): Show CTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTA CGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGA GAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTG AGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAC GTACGGGAGGGAGTGGCGGATGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp1 HG06807.hp2 HG02559.hp2 HG02886.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0161 a0001c0001t0001g0196 a0001c0001t0033g0239 a0001c0001t0001g0161 a0001c0001t0001g0196 a0001c0001t0033g0239	3	434	0.0069	229	c.513 others(244): Show c.513+659_513+660insACAGACGTACGGGAGGGAGTGGCGGATGGG TGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAG ACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGT GGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATG GGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241570876	C C	CGTACGGG others(222): Show CGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGGGTG GGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGG GTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCA GAGGTACAGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGG GTGGGAGAGCTGGGGTGCGAGGGTGCAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0082 a0001c0001t0018g0082	1	434	0.0023	229	c.513 others(244): Show c.513+630_513+631insGGGGGTGGGAGAGCTGGGGTGCGAGGGTAC AGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGGGGG GTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACAGGAGGGAGTGGCGGA TGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOP1_chr8_144257045_144296438	144262844	A A	ACCCCTCA others(222): Show ACCCCTCACCTGCAGGGTGCACCGCCCCCCCCCACCCCTCACCTGCAGGG TACACCGCCCCCCCCCCACCCCTCACCTGCAGGGTGCACCGCCCCCCCCA CCCCTCACCTGCAGGGTGCACTGCCCCTACCCCCACCCCTCACCTGCAGG GTACACCGCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCCCCC CACCCCTCACCTGCAGGGTGCACTGCCCCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	398	0.0025	229	c.189 others(242): Show c.1894+8_1894+9insGGGGGCAGTGCACCCTGCAGGTGAGGGGTGGG GGGGGGGCGGTGTACCCTGCAGGTGAGGGGTGGGGGGGGGCGGTGTACCC TGCAGGTGAGGGGTGGGGGTAGGGGCAGTGCACCCTGCAGGTGAGGGGTG GGGGGGGCGGTGCACCCTGCAGGTGAGGGGTGGGGGGGGGGCGGTGTACC CTGCAGGTGAGGGGTGGGGGGGGGCGGTGCACCCTGCAGGTGAGGGG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	13/15			chr8	TogoVar
C2CD4C_chr19_400445_414147	404030	T T	TGGGGGGG others(222): Show TGGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGC CCTGCCCTGAGGGGTGTGGGGGGGACGGGGCCCTGTCCCGAGGGGTGTGA GGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGTCCT GTCCCGAGGGGTGTGAGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGG GGGGACGGGGTCCTGCCCCGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0082 a0001c0002t0082	a0001c0002t0082g0055 a0001c0002t0082g0055	1	322	0.0031	229	c.30 others(240): Show c.3065_*3066insTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCA CACCCCTCGGGGCAGGGCCCCGTCCCCCCCTCACACCCCTCGGGACAGGA CCCCGTCCCCCCCTCACACCCCTCGGGACAGGACCCCGTCCCCCCCTCAC ACCCCTCGGGACAGGGCCCCGTCCCCCCCACACCCCTCAGGGCAGGGCCC CGTCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1414		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27557925	A A	ACCTCCCT others(222): Show ACCTCCCTCCCGGATGGGGCGGCTGGCCAGGTGGGAGGATGACCCCCCCA CCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGC TGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGACCCCCCCCCCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0317 a0008c0023t0001g0317	1	326	0.0031	229	c.145 others(246): Show c.145-7382_145-7381insTGGGAGGATGACCCCCCCACCTCCCTCC CGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGC GGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGATGGGGCGGCTGGCCAG G	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(222): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	398	0.0025	229	c.-22 others(240): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CADPS2_chr7_122313411_122891460	122705888	A A	ATATAATA others(222): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATAATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATTATATAATATAATATATAATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0092 a0004c0008t0001g0092	1	126	0.0079	229	c.453 others(248): Show c.453+31066_453+31067insAATATATTATATATTATATTATATAA TATATTATATATTATATTATATAATATATTATATATTATATTATATAATA TATTATATATTATATTATATAATATATTATACATTATATTATATAATATA TTATATATTATATTATATAATATATTATATATTATATTATATTATATATT ATATATTATATATTATATTATATATTATATATTATATTATATATTATATT ATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122705888	A A	ATATAATA others(222): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATTATATAATAT ATAATATATTATATAATATAATGTATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATTATATAATATAATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	126	0.0079	229	c.453 others(248): Show c.453+31066_453+31067insAATATATTATATATTATATTATATAA TATATTATATATTATATTATATAATATATTATATATTATATTATATAATA TATTATATATTATATTATATAATATATTATACATTATATTATATAATATA TTATATATTATATAATATAATATATTATATATTATATTATATTATATATT ATATATTATATATTATATTATATATTATATATTATATTATATATTATATT ATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CAPN5_chr11_77061971_77131155	77098731	A A	ACCCCCCC others(222): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTG GACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCAGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03831.hp1 HG00597.hp2 HG03831.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0004c0005t0004 a0001c0001t0005 a0004c0005t0004	a0001c0001t0005g0119 a0004c0005t0004g0029 a0001c0001t0005g0119 a0004c0005t0004g0029	2	382	0.0052	229	c.297 others(246): Show c.297+4940_297+4941insCGGGGCGGCTGGCCGGGTGGGGGGGCTG ACCCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCT CCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGG ACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG A	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(222): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAAGGGGAAGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGA GGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0356 a0002c0003t0001g0356	1	364	0.0028	229	c.234 others(246): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTC CCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC T	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGGGGAA others(222): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGA AGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	364	0.0028	229	c.234 others(246): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC T	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(222): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCA CCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTC CCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0045 a0001c0001t0003g0007 a0001c0001t0003g0045	2	410	0.0049	229	c.-22 others(240): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CDH12_chr5_21745673_22858344	21875592	G G	GTATGTAG others(222): Show GTATGTAGTCTGAACTTTGAGATTAATAGCCATCTCCTTTTTTCATTCTA AAATTTAACCACCCTGCTTCTGTAAACTTCTTCTGTAGGGAATGTCTTTT GCTCTCTGTCCAAAAAAAGTCAGAGCTCTGCCACTTAATTTTTGGGTAAC AATTTTGAGCCTCTTATCTAAGAATTGGAAATTTGTAACTGAATTTCACA AACAGGTTAACAAAGATTAAATTTAACAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00639.hp1 others(47): Show HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19002.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0008 others(10): Show a0001c0001 a0001c0002 a0001c0008 a0002c0003 a0002c0004 a0002c0013 a0003c0005 a0004c0011 a0005c0010 a0006c0009 a0007c0012 a0008c0014 a0009c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0015 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0008t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0003 a0002c0004t0004 a0002c0004t0006 a0002c0004t0012 a0002c0004t0021 a0002c0013t0002 a0003c0005t0001 a0004c0011t0001 a0005c0010t0001 a0006c0009t0001 a0007c0012t0002 a0008c0014t0026 a0009c0007t0028	a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0042 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0051 a0001c0001t0008g0044 a0001c0001t0013g0049 a0001c0001t0016g0045 a0001c0001t0018g0010 a0001c0001t0019g0014 a0001c0002t0003g0022 a0001c0002t0003g0052 a0001c0002t0004g0002 a0001c0002t0004g0008 a0001c0002t0004g0040 a0001c0002t0006g0030 a0001c0002t0007g0001 a0001c0002t0011g0009 a0001c0002t0015g0032 a0001c0002t0020g0057 a0001c0002t0022g0038 a0001c0002t0023g0046 a0001c0002t0024g0007 a0001c0002t0025g0019 a0001c0002t0027g0036 a0001c0008t0002g0039 a0002c0003t0001g0005 a0002c0003t0001g0026 a0002c0003t0001g0058 a0002c0003t0002g0011 a0002c0003t0005g0060 a0002c0004t0003g0016 a0002c0004t0003g0023 a0002c0004t0003g0041 a0002c0004t0004g0033 a0002c0004t0006g0037 a0002c0004t0012g0020 a0002c0004t0021g0013 a0002c0013t0002g0034 a0003c0005t0001g0054 a0003c0005t0001g0056 a0004c0011t0001g0029 a0005c0010t0001g0004 a0006c0009t0001g0006 a0007c0012t0002g0048 a0008c0014t0026g0031 a0009c0007t0028g0059	50	60	0.8333	229	c.527 others(248): Show c.527-20803_527-20802insATTGTTAAATTTAATCTTTGTTAACC TGTTTGTGAAATTCAGTTACAAATTTCCAATTCTTAGATAAGAGGCTCAA AATTGTTACCCAAAAATTAAGTGGCAGAGCTCTGACTTTTTTTGGACAGA GAGCAAAAGACATTCCCTACAGAAGAAGTTTACAGAAGCAGGGTGGTTAA ATTTTAGAATGAAAAAAGGAGATGGCTATTAATCTCAAAGTTCAGACTAC ATA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	6/14			chr5	TogoVar
CDH12_chr5_21745673_22858344	21875592	G G	GTATGTAG others(222): Show GTATGTAGTCTGAACTTTGAGATTAATAGCCATCTCCTTTTTTCATTCTA AAATTTAACCACCCTGCTTCTGTAAACTTCTTCTGTAGGGAATGTCTTTT GCTCTCTGTCCAAAAAAAGTCAGAGCTCTGCCACTTAATTTTTGGGTAAC AATTTTGAGCCTTTTATCTAAGAATTGGAAATTTGTAACTGAATTTCACA AACAGGTTAACAAAGATTAAATTTAACAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02723.hp1 others(6): Show HG02280.hp1 HG02572.hp2 HG02723.hp1 HG02886.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0002c0003t0001 a0002c0003t0005 a0002c0006t0004	a0001c0001t0001g0047 a0001c0001t0002g0021 a0001c0001t0009g0024 others(6): Show a0001c0001t0001g0047 a0001c0001t0002g0021 a0001c0001t0009g0024 a0001c0001t0010g0012 a0001c0001t0014g0055 a0001c0001t0017g0025 a0002c0003t0001g0053 a0002c0003t0005g0017 a0002c0006t0004g0018	9	60	0.1500	229	c.527 others(248): Show c.527-20803_527-20802insATTGTTAAATTTAATCTTTGTTAACC TGTTTGTGAAATTCAGTTACAAATTTCCAATTCTTAGATAAAAGGCTCAA AATTGTTACCCAAAAATTAAGTGGCAGAGCTCTGACTTTTTTTGGACAGA GAGCAAAAGACATTCCCTACAGAAGAAGTTTACAGAAGCAGGGTGGTTAA ATTTTAGAATGAAAAAAGGAGATGGCTATTAATCTCAAAGTTCAGACTAC ATA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	6/14			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(222): Show ATAGAATATATATATAGAATATATATATATAGAATATATATATAGAATAT ATATATATAGAATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	388	0.0026	229	c.487 others(246): Show c.487+1101_487+1102insTAGAATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA T	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(222): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATAGAATAT ATATATATAGAATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA20752.hp1 HG01081.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	388	0.0052	229	c.487 others(246): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA T	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255681	A A	AAGGGGGC others(222): Show AAGGGGGCAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0004 a0004	a0004c0074 a0004c0074	a0004c0074t0001 a0004c0074t0001	a0004c0074t0001g0009 a0004c0074t0001g0009	1	344	0.0029	229	c.85- others(246): Show c.85-12948_85-12947insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTGCCCCC T	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(222): Show GGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGAGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0102 a0002c0102	a0002c0102t0001 a0002c0102t0001	a0002c0102t0001g0172 a0002c0102t0001g0172	1	344	0.0029	229	c.85- others(246): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCC C	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647263	C C	CCCTCCTC others(222): Show CCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTC CTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCCTCACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCC TCCTCCTCCACAATCCTCCTCCTCACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	276	0.0036	229	c.51 others(240): Show c.5123_*5124insCCTCCTCCTCCACAATCCTCCTCCTCACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACC CCTCCTCCTCCACAATCCTCCTCCTCACCCCTCCTCCTCCACAATCCTCC TCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAAT CCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCTCACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1919		chr15	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(222): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACCACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	396	0.0025	229	c.513 others(246): Show c.513-1023_513-1022insTCACCACTACCTGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT A	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(222): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	396	0.0025	229	c.513 others(244): Show c.513-991_513-990insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DCBLD2_chr3_98790941_98906695	98837922	A A	ACCCCCCC others(222): Show ACCCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCATGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGTGCTGAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0067 a0001c0002t0005g0067	1	330	0.0030	229	c.571 others(248): Show c.571+11538_571+11539insGTCAGCACCCCCACCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(222): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	367	0.0027	229	c.-42 others(240): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(222): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	367	0.0027	229	c.-42 others(240): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DGKD_chr2_233349494_233477098	233397358	G G	GCAGAGTG others(222): Show GCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGA GTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAG AGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGCCAGAGCGAGAGG ACACCAGAGGGGACCAGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGGACT CCAGAGGGGACCAGGGTGGCTGGCAGAGGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	336	0.0030	229	c.348 others(246): Show c.348+6979_348+6980insTCCAGAGGGGACCAGGGTGGCTGGGGGG GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGC AGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAG AGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGA C	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397373	T T	TCCAGAGG others(222): Show TCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCCAG AGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGG ACCAGGGTGGCTGGGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACC AGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGGACTCCAGAGGGGACCAGG GTGGCTGGCAGAGGCCAGAGTGAGAGGACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	336	0.0030	229	c.348 others(246): Show c.348+6979_348+6980insTCCAGAGGGGACCAGGGTGGCTGGGGGG GGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGC AGCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAG AGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGA C	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(222): Show CCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAG CCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCAC CCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCC ACAGCCGGATCCCAGGACGGCACCCACCCA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0065 a0001c0003t0002g0065	1	88	0.0114	229	c.86- others(246): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCC GGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGG G	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1164201	G G	GTCCCCCC others(222): Show GTCCCCCCAGGGCCCCTCGTTTTGGTTTGTGGGGACTGATTGTGAGCCCC CCAGGGTTTGTTTTGGTTTGTGCGGATAGATTTTTCTGTGAGCCCCCAGG GCCTGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGT CATTTTGGTTTGTGGGGATTTTTCTGTGAACCCCCCAGGGCCCGTCATTT TGGTTTGTGGGGACAGATTTTTCTGTGAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02071.hp1 HG02074.hp2 HG00639.hp2 HG02071.hp1 HG02074.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0004 a0001c0002 a0001c0010 a0002c0004	a0001c0002t0009 a0001c0010t0025 a0002c0004t0026 a0001c0002t0009 a0001c0010t0025 a0002c0004t0026	a0001c0002t0009g0039 a0001c0010t0025g0012 a0002c0004t0026g0016 a0001c0002t0009g0039 a0001c0010t0025g0012 a0002c0004t0026g0016	3	40	0.0750	229	c.74- others(246): Show c.74-94650_74-94649insTCCCCCCAGGGCCCCTCGTTTTGGTTTG TGGGGACTGATTGTGAGCCCCCCAGGGTTTGTTTTGGTTTGTGCGGATAG ATTTTTCTGTGAGCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGATTTTT CTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGA ACCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAA C	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar

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