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
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(358): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	365	c.-10 others(376): Show c.-1083_-1082insGATATATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTT TATATATTTATGATATATAAATATAAATTTTTATATATTTATATTTATGA TATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAM2_chr8_39738735_39843227	39793322	T T	TAAGAAAT others(358): Show TAAGAAATAGAATGAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	329	0.0030	365	c.571 others(382): Show c.571-4583_571-4582insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTATTCATTCTATTTCTT	ADAM2	ENSG00000104755.16	transcript	ENST00000265708.9	protein_coding	7/20			chr8	TogoVar
AFF3_chr2_99540419_100147590	99820748	A A	AGGTTTTT others(358): Show AGGTTTTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0054 a0002c0002t0023g0054	1	100	0.0100	365	c.921 others(384): Show c.921+16728_921+16729insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAACC	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	8/24			chr2	TogoVar
ANGPT4_chr20_864900_921334	918704	T T	TAGAAGGT others(358): Show TAGAAGGTGGGGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	432	0.0023	365	c.-24 others(376): Show c.-2491_-2490insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTATTTTTTTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCG CCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGGCCCCACCTTCT	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding		2371		chr20	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(358): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCG CTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAA CCTCTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAG TAGAGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA19086.hp2 HG03942.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0266 a0001c0001t0001g0228 a0001c0001t0001g0266	2	392	0.0051	365	c.703 others(380): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTC TTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCT CTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAG AGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGDIG_chr16_275591_288010	285949	C C	CCCCAACC others(358): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCT CCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	442	0.0023	365	c.31 others(376): Show c.3135_*3136insCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCG CGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCT CCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2940		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCCCCCTC others(358): Show CCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC GCTCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCTCCCCCTCCCCCTC CCCCTCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTC CCACTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCC CTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0036 a0008c0009t0001g0036	1	264	0.0038	365	c.102 others(382): Show c.1024+306_1024+307insCCCCTCCTCCCCCTTCCCCTCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCTCCCGCTCCCCCTCCCCCTCCCCCTCCCGCTCCC CCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCACTCCCCCTCCCCCCTCCCCCTCCCTCC CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASB5_chr4_176208673_176274222	176218253	T T	TATATATA others(358): Show TATATATATTTGTATGATATATATATTGTATGATATATAATTATATATTT GTATGATATATAAATATACATGTATGATATATAAATATATATTGTATGAT ATATAAATATATATATATTGTATGATATATAAATATATATATATTTGTAT GATATATATATTTGTATGATATATAAATATATATTTGTATGACATATAAA TATATATTTGTATGACATATAAATATATATATTTGTATGACATATAAATA TATATATTTGTATGACATATAAATATATATGTATGATATATAAATATATA TTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATATA TTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0291 a0001c0002t0001g0291	1	410	0.0024	365	c.671 others(382): Show c.671-1245_671-1244insTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATATATATTTATA TATCATACATATATATTTATATGTCATACAAATATATATATTTATATGTC ATACAAATATATATATTTATATGTCATACAAATATATATTTATATGTCAT ACAAATATATATTTATATATCATACAAATATATATATCATACAAATATAT ATATATTTATATATCATACAATATATATATATTTATATATCATACAATAT ATATTTATATATCATACATGTATATTTATATATCATACAAATATATAATT ATATATCATACAATATATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(358): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCC CACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCCCACCCC CCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	254	0.0039	365	c.39+ others(382): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCAC CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCT CCCCCCACCCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCC TACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCC CCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(358): Show TCCCCACCTCCCCCCACCCCCCCCCCACCTCCCCCACCCCCCCACCCCCC CACCTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCCCACCCAC CTCCCCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCA CCCCCACCCACCTCCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCC ACCTCCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCC CACCCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACC CCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0062 a0014c0036t0062	a0014c0036t0062g0204 a0014c0036t0062g0204	1	254	0.0039	365	c.39+ others(382): Show c.39+32844_39+32845insACCCCCCCCCCACCTCCCCCACCCCCCC ACCCCCCCACCTCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCACCCC CACCCACCTCCCCCCACCCCCCACCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCACCCACCTCCCCCCCACCCCCACCCACCTCCCCCCACC CCCACCCACCTCCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCC CACCCCCCACCCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACC CCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCC CCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723293	T T	TCCCCCCA others(358): Show TCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCAC CTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACCCC CACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCTACCCC CCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCC CCCACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0214 a0001c0016t0004g0214	1	254	0.0039	365	c.39+ others(382): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CTCCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCA CCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCC CCACCCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACC CCCCACCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421145	A A	ATAGTTTA others(358): Show ATAGTTTATATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATACTATATATAGTATATATATATACTATATATATAGTTTATATAT ATATACTATATATAGTATATATATACTATATATATAGTATATATATATAC TATATATATAGTTTATATATATATACTATATATATAGTTTATATATATAT AAACTATATATATAGTTTATATATATATACTATATATATAGTGTATATAT ATATATACTATATATATAGTTTATATATATATATACTATATATATAGTTT ATATATAGTTTATATATATATATACTATATATATAGTTTATATATATATA TACACTATATATATAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02647.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0037 a0001c0001t0012 a0001c0001t0037	a0001c0001t0012g0037 a0001c0001t0037g0041 a0001c0001t0012g0037 a0001c0001t0037g0041	2	304	0.0066	365	c.331 others(384): Show c.3314-1179_3314-1178insCTATATATATAGTGTATATATATATA TAAACTATATATATAGTATATATATATATAAACTATATATAAACTATATA TATAGTATATATATATATAAACTATATATATAGTATATATATATATACAC TATATATATAGTATATATATATAAACTATATATATAGTTTATATATATAT AAACTATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATACTATATATATAGTATATATATACTATATATAGTATATATATATAAAC TATATATATAGTATATATATATACTATATATAGTATATATATAAACTATA TATATAGTATATATATATAAACTATATATATATAAACTA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421145	A A	ATAGTTTA others(358): Show ATAGTTTATATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATACTATATATAGTATATATATATACTATATATATAGTTTATATAT ATATACTATATATAGTATATATATACTATATATATAGTATATATATATAC TATATATATAGTTTATATATATATACTATATATATAGTTTATATATATAT AAACTATATATATAGTTTATATATATATACTATATATATAGTTTATATAT ATATATACTATATATATAGTTTATATATATATATACTATATATATAGTTT ATATATAGTTTATATATATATATACTATATATATAGTTTATATATATATA TACACTATATATATAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02486.hp2 HG02970.hp1 HG01975.hp1 HG02486.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0038 a0001c0001t0039 a0001c0001t0018 a0001c0001t0038 a0001c0001t0039	a0001c0001t0018g0038 a0001c0001t0038g0045 a0001c0001t0039g0040 a0001c0001t0018g0038 a0001c0001t0038g0045 a0001c0001t0039g0040	3	304	0.0099	365	c.331 others(384): Show c.3314-1179_3314-1178insCTATATATATAGTGTATATATATATA TAAACTATATATATAGTATATATATATATAAACTATATATAAACTATATA TATAGTATATATATATATAAACTATATATATAGTATATATATATATAAAC TATATATATAGTATATATATATAAACTATATATATAGTTTATATATATAT AAACTATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATACTATATATATAGTATATATATACTATATATAGTATATATATATAAAC TATATATATAGTATATATATATACTATATATAGTATATATATAAACTATA TATATAGTATATATATATAAACTATATATATATAAACTA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(358): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0299 a0004c0005t0001g0299	1	356	0.0028	365	c.249 others(384): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(358): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0044 a0002c0019t0001g0044	1	356	0.0028	365	c.249 others(384): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285949	C C	CCCCAACC others(358): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCA ACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCT CCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0033 a0007c0025t0033	a0007c0025t0033g0063 a0007c0025t0033g0063	1	378	0.0027	365	c.21 others(376): Show c.2172_*2173insAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGG GTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGAGA ACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGG TTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGG GGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGT TGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGG GTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGAGAACCGCG GGGTTGGGGTTGGGAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1490		chr16	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGTGCA others(358): Show TGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	365	c.36 others(376): Show c.3604_*3605insGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B4GALNT3_chr12_454939_568509	511301	C C	CCTTCCAC others(358): Show CCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTC CACCTTCCACCTTCCTTCCACCTTCCACCTTCAACCTTCCGCCTTCCGCC TTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCACCTTCCACCTTCC ACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTCCACCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCT TCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTT CCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCACC TTCTTCCACCTTCGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG02922.hp2 others(3): Show HG01106.hp2 HG01243.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG03471.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0002 a0002c0003 a0005c0006 others(2): Show a0001c0002 a0002c0003 a0005c0006 a0006c0007 a0007c0008	a0001c0002t0081 a0001c0002t0094 a0002c0003t0050 others(3): Show a0001c0002t0081 a0001c0002t0094 a0002c0003t0050 a0005c0006t0007 a0006c0007t0039 a0007c0008t0007	a0001c0002t0081g0279 a0001c0002t0094g0141 a0002c0003t0050g0278 others(3): Show a0001c0002t0081g0279 a0001c0002t0094g0141 a0002c0003t0050g0278 a0005c0006t0007g0146 a0006c0007t0039g0301 a0007c0008t0007g0287	6	394	0.0152	365	c.170 others(384): Show c.170-23854_170-23853insTTCCACCTTCGAGCTTCCACCTTCCG CCTTCTGCCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCAACCTT CCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCAC CTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCT TCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC CACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCC ACCTTCCACCTTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTT CCACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(358): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0228 a0001c0001t0007g0228	1	268	0.0037	365	c.328 others(378): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCHE_chr3_165767904_165842423	165797255	T T	TCCCTCCC others(358): Show TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCC TCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTCCCTCCC CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCC TCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCC TTCCTTCTTCCCTCCCTCCCCCCTCCCTCCCTCCCCCCTCCCTTCCTTCC TTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCC TTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCC TTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02922.hp2 others(3): Show HG02615.hp1 HG02647.hp1 HG02922.hp2 HG03098.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0118 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0118	6	304	0.0197	365	c.151 others(386): Show c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAGGGAG GGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG GGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGA GGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGGAGGGA GGAAGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
C2CD4C_chr19_400445_414147	404678	C C	CGGGGGTC others(358): Show CGGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGA GGGGTGTGGAGGGGGGAACGGGGGTCCTGCCCTGAGGGGTGTGGAGGGGG GACGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCT GAGGGGTGTGGGGGGAAACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGG ACGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTG AGGGGTGTGGAGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGGGGGGAC GGGGTCCTGCCCTGAGGGGTGTGAGGGGGGATGGGGTCCTGCCCTGAGGG GTGTGGAGGGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0041 a0001c0001t0027g0041	1	322	0.0031	365	c.24 others(376): Show c.2417_*2418insCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCC ATCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTC AGGACAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTC CCCCCTCCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCACACCCCTC AGGGCAGGACCCCGTTTCCCCCCACACCCCTCAGGGCAGGACCCCGTTCC CCCCTCCACACCCCTCAGGACAGGACCCCGTCCCCCCTCCACACCCCTCA GGGCAGGACCCCCGTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCATC CCCCCTCCACACCCCTCAGGACAGGACCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		766		chr19	TogoVar
C2CD6_chr2_201482421_201624178	201574191	T T	TAAAAGAG others(358): Show TAAAAGAGGGGAACTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0246	1	270	0.0037	365	c.753 others(378): Show c.753+17_753+18insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTAGTTCCCCTCTTTT	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	7/15			chr2	TogoVar
CACNA1B_chr9_137872782_138129619	138126583	C C	CCCCCGGC others(358): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCG GCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTG CAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCA AGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0006 a0005c0026t0006	a0005c0026t0006g0144 a0005c0026t0006g0144	1	248	0.0040	365	c.45 others(376): Show c.4584_*4585insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCA GCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCC CCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGC CCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		1965		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCGGC others(358): Show GCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGC CATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGG GGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGG CCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGC AGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAA GAGGGCCCTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0016 a0001c0017t0016	a0001c0017t0016g0119 a0001c0017t0016g0119	1	248	0.0040	365	c.49 others(376): Show c.4946_*4947insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCA AGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAG CAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCC CCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCC CTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGA GCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCA TGACACCGTGAGCAAGAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(358): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGTAG ACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0131 a0012c0131	a0012c0131t0002 a0012c0131t0002	a0012c0131t0002g0331 a0012c0131t0002g0331	1	338	0.0030	365	c.300 others(382): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(358): Show AGGGGGTCCTCACAGGGAGGGGATCCTCACGGGGAGGGGGATCCTCAGGG GGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTC ACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCC TCAGGCGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAA GGGGGATCCTCACAGGGAGGCGGGTCCTCACGGGGAGGGGGATCCTCATG GGGAGAGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCT CAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGGATCCTTGGGGGGAGGGG GATCCTCACAGGGTGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA20805.hp2 HG02132.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0018 a0001c0003t0001 a0002c0004t0018	a0001c0003t0001g0012 a0002c0004t0018g0015 a0001c0003t0001g0012 a0002c0004t0018g0015	2	58	0.0345	365	c.234 others(386): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGATCCTCA CGGGGAGGGGGATCCTCAGGGGGAGGAGGATCCTCACGGGGAGGGGGATC CTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGG ATCCTCACGGGGAGGGGATCCTCAGGCGGAGGGGGATCCTCCTCAGGGGG AGGGGGGATCCTCACGGGGAAGGGGGATCCTCACAGGGAGGCGGGTCCTC ACGGGGAGGGGGATCCTCATGGGGAGAGGGATCCTCACGGGGAGGGGGAT CCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGG GGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(358): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGG GAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	386	0.0026	365	c.803 others(379): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGA CGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC77_chr12_396644_447642	420535	T T	TCTTCTGT others(358): Show TCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGC ACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACC CTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCAT GCTCCATTACAGTGCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0097 a0004c0004t0002g0097	1	432	0.0023	365	c.413 others(382): Show c.413+1972_413+1973insTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGC TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA TACACATAGCAGCACACTCCATGTTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CENPJ_chr13_24877279_24927861	24881816	C C	CTATATAG others(358): Show CTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT ATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATATATAGATACATCTATATAGATATATA GATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0280 a0001c0001t0006g0280	1	440	0.0023	365	c.13 others(376): Show c.1360_*1361insTCTATATAGATGTATCTATATATCTATATAGATG TATCTATATATATAGATGTATCTATATATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATAGATGTATCTATATATCTATATAGATGTA TCTATATATCTATATAGATGTATATATATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATT ATATATCTATATAGATGCATCTATATATCTATATATAGATATATAGATGC ATCTATATAGATATATAGATGCATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		462		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(358): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCT TCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02165.hp1 NA18947.hp2 others(1): Show HG02155.hp2 HG02165.hp1 NA18947.hp2 NA18950.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0005 a0003c0004t0001 a0003c0004t0005	a0003c0004t0001g0019 a0003c0004t0005g0014 a0003c0004t0005g0019 a0003c0004t0001g0019 a0003c0004t0005g0014 a0003c0004t0005g0019	4	354	0.0113	365	c.69 others(376): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(358): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCTCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCTTCCCTCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCT TCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0019 a0003c0004t0001g0019	1	354	0.0028	365	c.69 others(376): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCTCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CMTM8_chr3_32233680_32375321	32354362	A A	AGAACAAT others(358): Show AGAACAATTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	344	0.0029	365	c.148 others(382): Show c.148-2995_148-2994insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGAACAATTCTTTTCTT	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(358): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGG AGGGGAGGGGACGGGAGGGGGGAGGGGGGAGGGGAGGGGGACTGGAGGGG AGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAA GGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAG GGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAA GGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	308	0.0033	365	c.637 others(380): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTT CCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCC CCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCC CTCCCCTCCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCC CCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCC CTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCC TCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(358): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGGAGGGGGACTG GAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGG AGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAA GGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAG GGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAA GGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	308	0.0033	365	c.637 others(380): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTT CCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCC CCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCC CTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCC CCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCC CTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCC TCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNTN5_chr11_99015949_100363885	99858677	T T	TGAAGTTA others(358): Show TGAAGTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	66	0.0152	365	c.577 others(384): Show c.577+13415_577+13416insGAAGTTATTTCTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	6/24			chr11	TogoVar
COL18A1_chr21_45400165_45518720	45500881	T T	TTGGGTGT others(358): Show TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTT TGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTATGGTTTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0029 a0029	a0029c0097 a0029c0097	a0029c0097t0001 a0029c0097t0001	a0029c0097t0001g0036 a0029c0097t0001g0036	1	292	0.0034	365	c.268 others(384): Show c.2684-3130_2684-3129insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT TGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAA others(358): Show AGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0164 a0004c0005t0001g0164	1	344	0.0029	365	c.85- others(382): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924065	C C	CCCACACT others(358): Show CCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGC CCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGG CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAATCC GGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCA CACTAACCCGGCCCCT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0195 a0007c0007t0001g0195	1	350	0.0029	365	c.488 others(382): Show c.488+1421_488+1422insCACACTAACCCGGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCC CACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCC CCACACTAATCCGGCCCCCACACTAACCCGGCCCCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(358): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGG GGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03516.hp2 HG03471.hp1 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0085 a0003c0003t0002g0083 a0003c0003t0002g0085	2	216	0.0093	365	c.923 others(384): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTTCC ACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCTCCATTCCTCC ATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCT CCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCACACAT others(358): Show CCACACATCCCCCACACCCCCCACATCCCCCCACACCCCCACACACCCCC ACACCACACATCCCCCACACCCCCCAACACCCCCACACCCCCACACACCC CCACACCACACATCCCTCACACCCCCCAAATCCCCCACACCCCCCACATC CCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACAT CCCCCCACACCCCCACACACCCCCACACCACACATCCCCCACACCCCCCA ACACCCCCACACCCCCACACACCCCCACACCACACATCCCCCACACCCCC CAACACCCCCACACCCCCACACACCCCCACACCACACATCCCCCCACACC CCCACACACCCCCACA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0067 a0001c0001t0011g0067	1	116	0.0086	365	c.207 others(384): Show c.2073+1464_2073+1465insACACATCCCCCACACCCCCCACATCC CCCCACACCCCCACACACCCCCACACCACACATCCCCCACACCCCCCAAC ACCCCCACACCCCCACACACCCCCACACCACACATCCCTCACACCCCCCA AATCCCCCACACCCCCCACATCCCCACACCACACATCCCCCACACCCCCC ACATCCCCCACACCCCCCACATCCCCCCACACCCCCACACACCCCCACAC CACACATCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCCAC ACCACACATCCCCCACACCCCCCAACACCCCCACACCCCCACACACCCCC ACACCACACATCCCCCCACACCCCCACACACCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251150	A A	ATACCCCT others(358): Show ATACCCCTCACATCCCCCACACCCCCCAACACCCCCACACACCCCCCACA CCACACATCCCCCACACCCCCCACACCCCCCACACCCCCCATACCCCTCA CATCCCCCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCC CAACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCTCACA CCCCCCAACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCC TCACACCCCCCACACCCCCCACACCCCCCATACCCCTCACATCCCCCACA CCCCTCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACACCACA CATCCCTCACACCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	116	0.0086	365	c.207 others(384): Show c.2073+1466_2073+1467insTACCCCTCACATCCCCCACACCCCCC AACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACC CCCCACACCCCCCATACCCCTCACATCCCCCACACCCCCCACACCCCCCA CACCACACATCCCTCACACCCCCCAACACCCCCCAACACCCCCACACACC CCCCACACCACACATCCCTCACACCCCCCAACACCCCCCAACACCCCCAC ACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCCC CCATACCCCTCACATCCCCCACACCCCTCACATCCCCCACACCCCCCACA TCCCCCACACCCCCCACACCACACATCCCTCACACCCCT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(358): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGG GGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGG GAGTCGGGTGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTTGGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	367	0.0027	365	c.-42 others(376): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGGTGGGGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG GTGGGGGGGGTGAGGGAGTCGGGTGGGGGGTGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(358): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCATACCACACCACACCAGGCCACACCACACCAAGCCACACCACACCAG GCCACACCACACCATACCACACCACACCAGGCCACACCACACCAGGCCAC ACCACACCACACCACACCACGCCACACCACACCAGGCCACACCACACCAG GCCACACCACACCACG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG02257.hp1 others(5): Show HG01167.hp2 HG02109.hp1 HG02257.hp1 HG02976.hp1 HG03209.hp2 HG03471.hp1 HG06807.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0007 a0001c0001t0016 a0001c0002t0020 others(3): Show a0001c0001t0007 a0001c0001t0016 a0001c0002t0020 a0001c0002t0036 a0001c0002t0037 a0005c0010t0002	a0001c0001t0007g0285 a0001c0001t0016g0284 a0001c0001t0016g0286 others(5): Show a0001c0001t0007g0285 a0001c0001t0016g0284 a0001c0001t0016g0286 a0001c0001t0016g0287 a0001c0002t0020g0174 a0001c0002t0036g0291 a0001c0002t0037g0322 a0005c0010t0002g0084	8	404	0.0198	365	c.510 others(380): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAGGCCACACCACACCACACCACACCACGCCACACCACACCAGGCCA CACCACACCAGGCCACACCACACCACGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHRSX_chrX_2214506_2505976	2314244	A A	AGGGAATG others(358): Show AGGGAATGAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGGAGGCAG GGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGG AGGGAGGCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAG GGAGGGAAGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGG AGGGAGGGAAAGGAGGGAGGGAGGGAGGGAAGCAGGGAAGGAGGGAGGCA GGGAGGGAAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGG GAGGGAAAGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAAGGAGGGAGGG AGGGAGGGAAGCAGGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	50	0.0200	365	c.287 others(384): Show c.287-22642_287-22641insCCCTGCTTCCCTCCCTCCCTCCCTCC TTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCTTTCCCTCCCTCCCTCCC TCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCCTCCCTGCCTCCCTC CTTCCCTGCTTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCCTCCCTCC CTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCT CCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCC CTGCCTCCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTGCCTCCCT CCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCATTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIP2C_chr10_269201_694668	608554	C C	CCCCCCAC others(358): Show CCCCCCACACACACACACACCCCCCCCACACACACACACACCCCCCCACA CACACACACACACCCCCCCCCACACACACACACCCCCCCCCACACACACA CACCCCCCCACACACACACCCCCCCCACACACACACACCCCCCCCACACA CACACACCCCCCCACACACACACACCCCCCCACACACACACCCCCCCCCA CACACACACACACCCCCCCCCCACACACACACATCCCCCCCCACACACAC ACACATCCCCCCCCACACACACACACATCCCCCCCCACACACACACACAT CCCCCCCCACACACACACACATCCCCCCCCCACACACACACACATCCCCC CCCCACACACACACAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	88	0.0114	365	c.85+ others(382): Show c.85+80939_85+80940insATGTGTGTGTGTGGGGGGGGGATGTGTG TGTGTGTGGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGG GGGGATGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGTGTGGGGGGGGGTG TGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGG GTGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGTGTGTGTGTGTGGG GGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGTGGGGGGGTG TGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(358): Show GATATATATGATATATATATGATATATATATCCCATATATATGATATATA TGATATATATATCATATATATGGGATATATATATCATATATATCATATAT ATGGGATATATATATCATATATATCATATATATGGGATATATATATCATA TATATCATATATATGGGATATATATATCATATATATCATATATATGGGAT ATATATATCATATATATCATATATATGGGATATATATATCATATATATCA TATATATGGGATATATATATCATATATATCATATATATGGGATATATATA TCATATATATCATATATATGGGATATATATATCATATATATCATATATAT GGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 NA20752.hp1 HG00735.hp2 HG01123.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0019	3	336	0.0089	365	c.22- others(382): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATGATATATATATCCCATATATATGATATATATGA TATATATATCCCATATATATGATATATATGATATATATATCCCATATATA TGATATATATGATATATATATCCCATATATATGATATATATGATATATAT ATCCCATATATATGATATATATGATATATATATCCCATATATATGATATA TATGATATATATATCCCATATATATGATATATATATCATATATATCATAT ATATGGGATATATATATCATATATATATCATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(358): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	212	0.0047	365	c.162 others(378): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89619093	G G	GCCCCCCC others(358): Show GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	250	0.0040	365	c.-10 others(384): Show c.-107+5380_-107+5381insCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619118	T T	TCCATGCC others(358): Show TCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTGCTCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCTCCCTG CTCCCTCCCTGCAGCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	250	0.0040	365	c.-10 others(384): Show c.-107+5401_-107+5402insATGCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCTCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCTCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCTCCCTGCTCCCTCCCTGCAGCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ELAVL2_chr9_23685104_23831240	23745997	C C	CAAAAGGG others(358): Show CAAAAGGGGGAGGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAG GCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	352	0.0028	365	c.230 others(384): Show c.230-14873_230-14872insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTTCCTCCCCCTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar

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