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
YBEY_chr21_46281342_46302751	46294544	AGTCAGCC others(67): Show AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	404	0.0025	-74	c.340 others(91): Show c.340-1616_340-1543delTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294546	TCAGCCAC others(67): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	404	0.0025	-74	c.340 others(91): Show c.340-1608_340-1535delACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294562	AACTCTAG others(67): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02145.hp2 HG03704.hp1 others(1): Show HG01975.hp1 HG02145.hp2 HG03704.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0128	4	404	0.0099	-74	c.340 others(91): Show c.340-1544_340-1471delGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZDHHC11B_chr5_705355_789729	751502	CAGAGGCA others(67): Show CAGAGGCAGGGGCAGGGACACGCAGGGCATCTGGGGCAGGGGTGGGGGCA TGCAGGGCAGGTGGGGGGTGCAGAG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03579.hp1 HG03834.hp1 others(2): Show HG02698.hp2 HG03579.hp1 HG03834.hp1 HG04204.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0020 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0020 a0001c0002t0003 a0001c0002t0070 a0001c0005t0020	a0001c0001t0001g0096 a0001c0001t0020g0074 a0001c0002t0003g0264 others(2): Show a0001c0001t0001g0096 a0001c0001t0020g0074 a0001c0002t0003g0264 a0001c0002t0070g0244 a0001c0005t0020g0076	5	271	0.0185	-74	c.504 others(89): Show c.504-319_504-246delCTCTGCACCCCCCACCTGCCCTGCATGCCC CCACCCCTGCCCCAGATGCCCTGCGTGTCCCTGCCCCTGCCTCT	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13			chr5	TogoVar
ZFP41_chr8_143241939_143267705	143261816	TGCACCTG others(67): Show TGCACCTGCCACGCCTGTCTCCGGCAGCCCCTGCCCGCACCCGCACCCCT GCACCTGCCACGCCCGTCTCCGGCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02280.hp1 others(17): Show HG01891.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02922.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011	a0001c0001t0007 a0001c0002t0007 a0001c0002t0057 others(5): Show a0001c0001t0007 a0001c0002t0007 a0001c0002t0057 a0001c0003t0014 a0001c0003t0021 a0001c0003t0027 a0001c0003t0054 a0001c0011t0027	a0001c0001t0007g0009 a0001c0002t0007g0009 a0001c0002t0007g0030 others(10): Show a0001c0001t0007g0009 a0001c0002t0007g0009 a0001c0002t0007g0030 a0001c0002t0007g0031 a0001c0002t0007g0075 a0001c0002t0007g0076 a0001c0002t0057g0118 a0001c0003t0014g0016 a0001c0003t0014g0093 a0001c0003t0021g0017 a0001c0003t0027g0079 a0001c0003t0054g0016 a0001c0011t0027g0016	20	316	0.0633	-74	c.29 others(85): Show c.2957_*3030delTGTCTCCGGCAGCCCCTGCCCGCACCCGCACCCC TGCACCTGCCACGCCCGTCTCCGGCAGCACCTGCCACGCC	ZFP41	ENSG00000181638.20	transcript	ENST00000330701.7	protein_coding	3/3	11391	INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFYVE9_chr1_52137089_52351634	52243448	GCTGCAGG others(67): Show GCTGCAGGAAGTAGAACAGCATGGACAAAGTCATTGAGGTTAAGAAGGCA CCTATTCAACAAACTGAAGGAACTC	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	210	0.0048	-74	c.217 others(93): Show c.2178+3929_2178+4002delTGCAGGAAGTAGAACAGCATGGACAA AGTCATTGAGGTTAAGAAGGCACCTATTCAACAAACTGAAGGAACTCC	ZFYVE9	ENSG00000157077.16	transcript	ENST00000287727.8	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZMAT4_chr8_40525590_40902826	40601475	AAGAAAGA others(67): Show AAGAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAAGAGAAAGAGAAAGAAA GAGGGAGAAAGGGGAAGGGGGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02976.hp2 HG01993.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0215 a0001c0001t0001g0068 a0001c0001t0001g0215	2	228	0.0088	-74	c.578 others(93): Show c.578-20288_578-20215delCACTCCCCCTTCCCCTTTCTCCCTCT TTCTTTCTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCT	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40601635	AGAAAGAA others(67): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01258.hp2 HG02055.hp1 others(5): Show HG00639.hp2 HG01258.hp2 HG02055.hp1 HG02486.hp1 HG02965.hp1 HG03654.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0122 a0001c0001t0001g0149 a0001c0001t0001g0222 a0001c0001t0002g0096 a0001c0001t0002g0109 a0001c0001t0002g0135 a0001c0001t0003g0021 a0001c0001t0003g0133	8	228	0.0351	-74	c.578 others(93): Show c.578-20448_578-20375delCTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZNF438_chr10_30839632_31036865	30930784	CGACAGAG others(67): Show CGACAGAGAGAAACTCAGTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGCAAATGGTTCTTTCCTAAAACCA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	316	0.0032	-74	c.-11 others(95): Show c.-115+10717_-115+10790delTGGTTTTAGGAAAGAACCATTTGC TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACTGAGTTTCTCTCTGTC	ZNF438	ENSG00000183621.15	transcript	ENST00000436087.7	protein_coding	3/6			chr10	TogoVar
ZNF444_chr19_56136287_56165893	56149296	CGACCTTG others(67): Show CGACCTTGACCTCTGCTTCCATCCCCCATCACTCCTCTGACCTTGACCTC TGCTTCCATCCCCCATCACTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02622.hp1 others(1): Show HG01243.hp2 HG02559.hp2 HG02622.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	4	416	0.0096	-74	c.297 others(91): Show c.297+2173_297+2246delTCTGCTTCCATCCCCCATCACTCCTCTG ACCTTGACCTCTGCTTCCATCCCCCATCACTCCTCTGACCTTGACC	ZNF444	ENSG00000167685.15	transcript	ENST00000337080.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF511_chr10_133303914_133318161	133318087	CCCCAGAC others(67): Show CCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGACACAGAGAT GGAAAGACCACACCCCCCCCAGACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	282	0.0036	-74	c.52 others(85): Show c.5222_*5295delCCCAGACACAGAGATGGAAAGACCACACACCCCG CCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACA	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4927		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76392800	CCAGGTGG others(67): Show CCAGGTGGGGGAAAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02630.hp1 others(4): Show HG01884.hp2 HG02109.hp1 HG02630.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0017	a0001c0001 a0001c0026 a0002c0054 others(2): Show a0001c0001 a0001c0026 a0002c0054 a0006c0041 a0017c0049	a0001c0001t0003 a0001c0001t0077 a0001c0001t0124 others(4): Show a0001c0001t0003 a0001c0001t0077 a0001c0001t0124 a0001c0026t0054 a0002c0054t0101 a0006c0041t0183 a0017c0049t0114	a0001c0001t0003g0276 a0001c0001t0077g0017 a0001c0001t0124g0075 others(4): Show a0001c0001t0003g0276 a0001c0001t0077g0017 a0001c0001t0124g0075 a0001c0026t0054g0037 a0002c0054t0101g0100 a0006c0041t0183g0127 a0017c0049t0114g0072	7	346	0.0202	-74	c.181 others(95): Show c.1811-12571_1811-12498delACCACCTGCCTTCCCCCCACCTGA CCACCTGCCTTCCCGGCTTCCCACCTGACTACCTGCCTTTCCCCCACCTG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393181	GGGCAGGG others(67): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02486.hp1 HG03942.hp2 HG02074.hp1 HG02486.hp1 HG03942.hp2	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0009c0050 a0010c0047 a0001c0001 a0009c0050 a0010c0047	a0001c0001t0142 a0009c0050t0009 a0010c0047t0063 a0001c0001t0142 a0009c0050t0009 a0010c0047t0063	a0001c0001t0142g0177 a0009c0050t0009g0066 a0010c0047t0063g0343 a0001c0001t0142g0177 a0009c0050t0009g0066 a0010c0047t0063g0343	3	346	0.0087	-74	c.181 others(95): Show c.1811-12952_1811-12879delGGCTTCCCACCTGACTACCTGCCC TCCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCCGCCCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393370	GGGGAGGG others(67): Show GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0133 a0003c0007t0133	a0003c0007t0133g0298 a0003c0007t0133g0298	1	346	0.0029	-74	c.181 others(95): Show c.1811-13141_1811-13068delGGCTTCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCCCTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393398	AGGCAGGT others(67): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGG AAGGCAGGTGGTCAGGTGGGGGCAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	346	0.0029	-74	c.181 others(95): Show c.1811-13169_1811-13096delCTGCCCCCACCTGACCACCTGCCT TCCCGGCTTCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393402	AGGTGGTC others(67): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0156 a0001c0001t0156	a0001c0001t0156g0304 a0001c0001t0156g0304	1	346	0.0029	-74	c.181 others(95): Show c.1811-13173_1811-13100delCGCCCTGCCCCCACCTGACCACCT GCCTTCCCGGCTTCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393812	GGGGAAGG others(67): Show GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp2 HG02622.hp1 others(3): Show HG00735.hp2 HG01884.hp2 HG02622.hp1 NA18977.hp2 NA19074.hp1 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0026 a0006c0051 a0001c0001 a0001c0026 a0006c0051	a0001c0001t0001 a0001c0001t0002 a0001c0001t0089 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0089 a0001c0026t0054 a0006c0051t0199	a0001c0001t0001g0083 a0001c0001t0002g0096 a0001c0001t0002g0205 others(3): Show a0001c0001t0001g0083 a0001c0001t0002g0096 a0001c0001t0002g0205 a0001c0001t0089g0281 a0001c0026t0054g0037 a0006c0051t0199g0012	6	346	0.0173	-74	c.181 others(95): Show c.1811-13583_1811-13510delGGCTTCCCACCTGACTACCTGCCC TCCCCCCACCTGACCACCCGCCCTGCCCCCACCTGACCACCTGCCTTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394159	GGGGAAGG others(67): Show GGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGG AGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02486.hp1 HG03041.hp1 others(2): Show HG01358.hp1 HG02486.hp1 HG03041.hp1 HG03195.hp1 HG03471.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0010	a0001c0001 a0001c0052 a0003c0048 others(2): Show a0001c0001 a0001c0052 a0003c0048 a0004c0017 a0010c0047	a0001c0001t0153 a0001c0052t0202 a0003c0048t0028 others(2): Show a0001c0001t0153 a0001c0052t0202 a0003c0048t0028 a0004c0017t0074 a0010c0047t0063	a0001c0001t0153g0061 a0001c0052t0202g0120 a0003c0048t0028g0036 others(2): Show a0001c0001t0153g0061 a0001c0052t0202g0120 a0003c0048t0028g0036 a0004c0017t0074g0301 a0010c0047t0063g0343	5	346	0.0145	-74	c.181 others(95): Show c.1811-13930_1811-13857delGGCTTCCCACCTGACTACCTGCCC TCCCCCCACCTGACCACCCGCCCTGCCCCCACCTGACCACCTGCCTTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394426	AGGTGGTC others(67): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0281 a0001c0001t0089g0281	1	346	0.0029	-74	c.181 others(95): Show c.1811-14197_1811-14124delCGCCCTGCCCCCACCTGACCACCT GCCTTCCCGGCTTCCCACCTGACCACCTGCCTTCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394445	AGGCAGGT others(67): Show AGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	346	0.0029	-74	c.181 others(95): Show c.1811-14216_1811-14143delCTCCCCCCACCTGACCACCCGCCC TGCCCCCACCTGACCACCTGCCTTCCCGGCTTCCCACCTGACCACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF611_chr19_52697813_52740044	52721024	GCGCTCCT others(67): Show GCGCTCCTCACTTCCCAGACAGGGCAGCCGAGCAGAGGGGCTCCTCACTT CCTAGACGGGGCGGCCAGGAAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0150 a0001c0001t0008g0150	1	408	0.0025	-74	c.-19 others(91): Show c.-19-5185_-19-5112delTCTCTTCCTGGCCGCCCCGTCTAGGAAG TGAGGAGCCCCTCTGCTCGGCTGCCCTGTCTGGGAAGTGAGGAGCG	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	3/5			chr19	TogoVar
ZNF713_chr7_55882456_55947225	55887720	GGCGGGGG others(67): Show GGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCG GAGGCGGGGGGCGGAGGCGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp1 HG02809.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0149 a0001c0001t0030g0150 a0001c0001t0030g0149 a0001c0001t0030g0150	2	410	0.0049	-74	c.-58 others(90): Show c.-583+42_-583+115delCGGGGGGCGGAGGCGGGGGGCGGAGGCGG GGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCG	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZRANB3_chr2_135191969_135536218	135493088	GATGATAC others(67): Show GATGATACCAAATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03130.hp2 HG03209.hp1 HG02809.hp1 HG03130.hp2 HG03209.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0011 a0006c0009t0011	a0006c0009t0011g0210 a0006c0009t0011g0211 a0006c0009t0011g0212 a0006c0009t0011g0210 a0006c0009t0011g0211 a0006c0009t0011g0212	3	214	0.0140	-74	c.161 others(93): Show c.161+11167_161+11240delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATTTGGTATCAT	ZRANB3	ENSG00000121988.18	transcript	ENST00000264159.11	protein_coding	2/20			chr2	TogoVar
ZYG11B_chr1_52721453_52832336	52803191	CATATATA others(67): Show CATATATATATATACACACACATATATATATATACACACATATATATATA CACACACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0338 a0001c0001t0014g0338	1	352	0.0028	-74	c.169 others(93): Show c.1695+1054_1695+1127delTATATATATATACACACACATATATA TATATACACACATATATATATACACACACACATATATATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AARSD1_chr17_42945526_42969454	42967322	TATAATAT others(66): Show TATAATATATAAAATATATATTATATAATATATAATATAATATATAAAAT ATATATTATATAATATATAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01081.hp1 others(5): Show HG00099.hp2 HG00741.hp2 HG01081.hp1 HG01361.hp2 HG01884.hp1 HG01981.hp2 HG02683.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0020 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0117	8	324	0.0247	-73	c.-29 others(84): Show c.-2955_-2883delTATATTATATATTATATAATATATATTTTATATA TTATATTATATATTATATAATATATATTTTATATATTAT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		2869		chr17	TogoVar
ABCB5_chr7_20610667_20762008	20693793	CAACATCA others(66): Show CAACATCAAGAATGAAAGAGCTGACATCACTACAGATTCTACATATATTA AAAGACTAATAAAATAATCTTATT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0118 a0004c0008t0006g0118	1	360	0.0028	-73	c.201 others(92): Show c.2011-4611_2011-4539delCATCAAGAATGAAAGAGCTGACATCA CTACAGATTCTACATATATTAAAAGACTAATAAAATAATCTTATTAA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTN4_chr19_38642649_38736589	38673651	ATATTTAT others(66): Show ATATTTATATATATTATATATATTTATATATTTATATATATTATATATAT TTATATATTTATATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01069.hp2 others(17): Show HG00140.hp2 HG00280.hp1 HG01069.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01433.hp2 HG01884.hp1 HG01981.hp1 HG02280.hp2 HG02630.hp1 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0008 a0001c0001 a0001c0005 a0002c0008	a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 others(8): Show a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0005t0001 a0001c0005t0008 a0001c0005t0018 a0001c0005t0028 a0002c0008t0011	a0001c0001t0011g0281 a0001c0001t0016g0302 a0001c0001t0016g0303 others(16): Show a0001c0001t0011g0281 a0001c0001t0016g0302 a0001c0001t0016g0303 a0001c0001t0017g0284 a0001c0001t0017g0288 a0001c0001t0025g0286 a0001c0001t0026g0287 a0001c0001t0030g0294 a0001c0005t0001g0304 a0001c0005t0008g0001 a0001c0005t0008g0004 a0001c0005t0008g0077 a0001c0005t0008g0305 a0001c0005t0018g0307 a0001c0005t0018g0308 a0001c0005t0028g0001 a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280	20	314	0.0637	-73	c.162 others(92): Show c.162+25745_162+25817delTATTTATATATATTATATATATTTAT ATATTTATATATATTATATATATTTATATATTTATATATTTATATAT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1236751	GCCTCCCG others(66): Show GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTG CCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp2 NA18989.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0035 a0002c0002t0062 a0001c0001t0035 a0002c0002t0062	a0001c0001t0035g0079 a0002c0002t0062g0093 a0001c0001t0035g0079 a0002c0002t0062g0093	2	106	0.0189	-73	c.136 others(92): Show c.1362-2979_1362-2907delGAGAGGGGAGTAAACACCGGGAGGCA GGGGGGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237925	TCTCCCTC others(66): Show TCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0088 a0002c0002t0004g0088	1	106	0.0094	-73	c.136 others(92): Show c.1361+4133_1362-4081delGGGGGGAGTAAACACCGGGAGGCAGA GGGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237928	CCCTCCCG others(66): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCCCTG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0029 a0002c0004t0005g0029	1	106	0.0094	-73	c.136 others(92): Show c.1361+4130_1362-4084delCAGGGGGGGAGTAAACACCGGGAGGC AGAGGGGAGTAAACACCGGGAGGCAGAGGGGAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238472	GCCTCCCG others(66): Show GCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTCACTCCCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0068 a0002c0002t0048g0068	1	106	0.0094	-73	c.136 others(92): Show c.1361+3586_1361+3658delGAGGGGGGAGTGAACACCGGGAGGCA GAGGGGAGTAAACACCGGGAGGGAGAGGGGGAGTGAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240130	TCTCCCTC others(66): Show TCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCT CTGCCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02683.hp2 HG01433.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0042 a0001c0001t0010 a0002c0002t0042	a0001c0001t0010g0025 a0002c0002t0042g0061 a0001c0001t0010g0025 a0002c0002t0042g0061	2	106	0.0189	-73	c.136 others(92): Show c.1361+1928_1361+2000delGGGGGAGTAAACACCGGGAGGCAGAG GGGAGTAAACACCGGGAGGCAGAGGGGGAGTAAACACCGGGAGGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1547560	ACACTGTG others(66): Show ACACTGTGGGGAGGGGGAGAGAGGCTGTGCAAGTCTATGCACTGTGTTGA GGGGAGAGGCTGCACTGGCGTATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(57): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG01243.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02258.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02886.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03540.hp1 HG03669.hp2 HG04184.hp1 HG04184.hp2 NA18945.hp1 NA18945.hp2 NA18967.hp1 NA18967.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19086.hp1 NA19086.hp2 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009	a0001c0001 a0001c0003 a0002c0002 others(7): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0005c0015 a0006c0012 a0008c0013 a0009c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(41): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0003t0001 a0001c0003t0045 a0001c0003t0060 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0027 a0002c0002t0038 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0046 a0002c0002t0053 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0004t0005 a0002c0016t0006 a0003c0006t0003 a0003c0006t0067 a0005c0015t0014 a0006c0012t0007 a0008c0013t0020 a0009c0010t0006	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0003g0085 others(57): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0018g0027 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0054g0083 a0001c0001t0055g0089 a0001c0001t0056g0081 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0001g0052 a0001c0003t0001g0070 a0001c0003t0045g0057 a0001c0003t0060g0104 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0005g0028 a0002c0002t0006g0011 a0002c0002t0006g0019 a0002c0002t0007g0001 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0058 a0002c0002t0027g0021 a0002c0002t0038g0048 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0046g0056 a0002c0002t0053g0106 a0002c0002t0062g0093 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0005g0029 a0002c0016t0006g0010 a0003c0006t0003g0090 a0003c0006t0067g0080 a0005c0015t0014g0008 a0006c0012t0007g0006 a0008c0013t0020g0037 a0009c0010t0006g0014	60	106	0.5660	-73	c.101 others(94): Show c.101-168473_101-168401delCATACGCCAGTGCAGCCTCTCCCC TCAACACAGTGCATAGACTTGCACAGCCTCTCTCCCCCTCCCCACAGTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRL3_chr4_61195326_62083335	61926411	TATGCGTT others(66): Show TATGCGTTGCACCTCTTTCTTTTCCTCATCAACTGGCGTTAACTAATCAG CAAATCATTTTAAATATCTTTGGA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0027 a0001c0002t0026g0027	1	58	0.0172	-73	c.211 others(92): Show c.2113-8426_2113-8354delGCGTTGCACCTCTTTCTTTTCCTCAT CAACTGGCGTTAACTAATCAGCAAATCATTTTAAATATCTTTGGAAT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADM5_chr19_49684594_49695575	49691973	GGAGGAGG others(66): Show GGAGGAGGGGCTGGGGCCTGGGCTTCTGGGTCTGAGGGAGGAGGGGCTGG GGGCCTGGACTCCTGGATCTGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01069.hp1 others(6): Show HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01168.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	392	0.0230	-73	c.14 others(84): Show c.1481_*1553delGAGGAGGGGCTGGGGCCTGGGCTTCTGGGTCTGA GGGAGGAGGGGCTGGGGGCCTGGACTCCTGGATCTGAGA	ADM5	ENSG00000224420.4	transcript	ENST00000420022.4	protein_coding		1399		chr19	TogoVar
AGBL1_chr15_86074871_86921156	86633805	ATATATAA others(66): Show ATATATAATGTATGTATATATATATAATGTATATATATATAATGTATATA TATATATAATGTATATATATAATG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	132	0.0076	-73	c.299 others(94): Show c.2995-40461_2995-40389delATGTATGTATATATATATAATGTA TATATATATAATGTATATATATATATAATGTATATATATAATGTATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKIP1_chr11_8906189_8925079	8910636	TGTGTGTG others(66): Show TGTGTGTGTGTGTGTGGACACGGGTTGTCGCTATGTTGCCTACCTAGCTG GTACCCCATAACCACTCCTGGCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG00140.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0087 a0001c0001t0001g0017 a0001c0001t0001g0087	2	420	0.0048	-73	c.-59 others(82): Show c.-593_-521delGTGTGTGTGTGTGTGGACACGGGTTGTCGCTATGTT GCCTACCTAGCTGGTACCCCATAACCACTCCTGGCTA	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding		552		chr11	TogoVar
AKIRIN2_chr6_87669860_87707233	87670024	GATTCACT others(66): Show GATTCACTGAGTAGAGTAAGTAGCCATGCCTTACTTTTCCTCTGCTGGGC ACTAAGTTGAATTTATCCAACATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	406	0.0025	-73	c.55 others(84): Show c.5500_*5572delTATGTTGGATAAATTCAACTTAGTGCCCAGCAGA GGAAAAGTAAGGCATGGCTACTTACTCTACTCAGTGAAT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding		4835		chr6	TogoVar
AKT1S1_chr19_49864039_49882355	49875292	AAGTGAGG others(66): Show AAGTGAGGCTCAGAGAGCTTAGGACACTGGCAAAAAAGCACACAGCTACA CAGGGCACAAGTGGGGCTGAAACT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	420	0.0024	-73	c.-8+ others(88): Show c.-8+1872_-8+1944delAGTTTCAGCCCCACTTGTGCCCTGTGTAGC TGTGTGCTTTTTTGCCAGTGTCCTAAGCTCTCTGAGCCTCACT	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	1/4			chr19	TogoVar
AMPH_chr7_38378704_38636373	38610296	GAAAAGAA others(66): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	288	0.0035	-73	c.69+ others(90): Show c.69+20914_69+20986delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANO1_chr11_70073317_70194530	70121776	CTCTCTAT others(66): Show CTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCCATCTCC CCCACCTCTCTGTCTGTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0001 a0008c0026t0001	a0008c0026t0001g0079 a0008c0026t0001g0079	1	302	0.0033	-73	c.898 others(90): Show c.898-2568_898-2496delATCTCTGTCTCTCCATCTGCCTCTGTCT CTGTCTCTCCATCTCCCCCACCTCTCTGTCTGTCTCTCTATCTCT	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO5_chr11_22188085_22288357	22269177	GAGAAGGA others(66): Show GAGAAGGAAAAGGGAAGGGAAGGGAAGAGAAGGGAAGAAGGAAAGAAGAA AGGAAGGAAGGAAGGAGAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG02027.hp1 others(43): Show HG00408.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02135.hp1 HG04184.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA18984.hp2 NA18986.hp2 NA18993.hp1 NA18995.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0041	a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0140 others(42): Show a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0003g0005 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0004g0112 a0001c0001t0004g0125 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0032g0121 a0001c0001t0041g0126	46	364	0.1264	-73	c.189 others(92): Show c.1899-1134_1899-1062delAGAAGGAAAAGGGAAGGGAAGGGAAG AGAAGGGAAGAAGGAAAGAAGAAAGGAAGGAAGGAAGGAGAAAAAAA	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21			chr11	TogoVar
APAF1_chr12_98640290_98740433	98738315	AGAAATGA others(66): Show AGAAATGAATAGAAAAATCTGCCTCTGTAATTTCCATCACCCAGGGCTAG AATATGTAACTAGAGAGGGTGGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18985.hp1 NA18981.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0061 a0001c0001t0001g0094	2	366	0.0055	-73	c.57 others(84): Show c.5750_*5822delGAAATGAATAGAAAAATCTGCCTCTGTAATTTCC ATCACCCAGGGCTAGAATATGTAACTAGAGAGGGTGGTC	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		2883		chr12	TogoVar
AQP12A_chr2_240686866_240703483	240693824	CTCTCTCT others(66): Show CTCTCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCTCTGT CTCTCCTCTCTCTCTGTCTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03669.hp2 HG03516.hp1 HG03669.hp2	a0012 a0015 a0012 a0015	a0012c0018 a0015c0020 a0012c0018 a0015c0020	a0012c0018t0001 a0015c0020t0001 a0012c0018t0001 a0015c0020t0001	a0012c0018t0001g0070 a0015c0020t0001g0067 a0012c0018t0001g0070 a0015c0020t0001g0067	2	171	0.0117	-73	c.572 others(88): Show c.572-544_572-472delGTCTCCCTGTCTCTCTCTGTCTCTCCTCTC TCTCTCTGTCTCTCCTCTCTCTCTCTGTCTCTCCTCTCTCTCT	AQP12A	ENSG00000184945.15	transcript	ENST00000337801.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF28_chr5_73621196_73946990	73805939	TAGTTTAT others(66): Show TAGTTTATTAAACTCTTTGCTCATTTGTTTATTAAACATTTATTAAACTA TTTGTTAAACTCTTTGCTCATTAC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	188	0.0053	-73	c.102 others(94): Show c.1024+10575_1024+10647delTTTATTAAACATTTATTAAACTAT TTGTTAAACTCTTTGCTCATTACAGTTTATTAAACTCTTTGCTCATTTG	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	9/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP11A_chr13_112685038_112892168	112727777	TTTCTGGA others(66): Show TTTCTGGAGCTAAACTCTGGCTTCGTGCAGCCTGCCACGCAGCTCGGGGA CTCCGGCGCTGGGCGAGGAACTCG	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0249 a0003c0008t0005g0249	1	254	0.0039	-73	c.39+ others(90): Show c.39+37323_39+37395delTTCTGGAGCTAAACTCTGGCTTCGTGCA GCCTGCCACGCAGCTCGGGGACTCCGGCGCTGGGCGAGGAACTCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112728433	GTCAGTAT others(66): Show GTCAGTATCCACACGTGGAGGGGCCGTGAGACCGTGCAGCCCGCTTCCCT GTGTTACCTGTATGTACCGCGTTA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0246 a0001c0004t0028g0246	1	254	0.0039	-73	c.39+ others(90): Show c.39+37990_39+38062delACGTGGAGGGGCCGTGAGACCGTGCAGC CCGCTTCCCTGTGTTACCTGTATGTACCGCGTTATCAGTATCCAC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145212	AAAGAAAG others(66): Show AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18982.hp1 NA18960.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0122 a0001c0001t0001g0029 a0001c0001t0001g0122	2	360	0.0056	-73	c.639 others(90): Show c.639+2261_639+2333delGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP8B4_chr15_49853238_50124233	49934952	GAGCAGAT others(66): Show GAGCAGATAGGATTGTAACTACTCTTTTAAAGAGAAACTGCATTAACTTT TGCAATTGATTCTAAAGTTACAAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG03139.hp1 HG02572.hp2 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237	3	254	0.0118	-73	c.128 others(90): Show c.1288-843_1288-771delTTTGTAACTTTAGAATCAATTGCAAAAG TTAATGCAGTTTCTCTTTAAAAGAGTAGTTACAATCCTATCTGCT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	14/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79246221	AGGAGGGC others(66): Show AGGAGGGCACCACCCTGACTGTGTGGAGGGCACCACCCTACTGACTGCGG AGGGCACCGCCCTACTGTCTGTGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02258.hp2 others(10): Show HG01891.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02698.hp2 HG02897.hp1 HG02965.hp2 HG03471.hp2 HG03579.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0010 a0001c0004 a0001c0006 a0001c0010	a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 others(2): Show a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0010t0004	a0001c0004t0003g0041 a0001c0004t0003g0092 a0001c0004t0003g0094 others(10): Show a0001c0004t0003g0041 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0003g0281 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0010t0004g0295 a0001c0010t0004g0297	13	298	0.0436	-73	c.110 others(92): Show c.1108-7149_1108-7077delACCCTGACTGTGTGGAGGGCACCACC CTACTGACTGCGGAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

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