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
UMODL1_chr21_42066317_42147996	42108877	G G	GCGCGGGA others(453): Show GCGCGGGAAGTTCATGTTGTACTCAGCTGGACCCCACCCCCGCGCGGGAA GTTCATGTTGTACTCAGCTGGACCCCACCCCCGCGCGGGAAGTTCATGTT GTACTCAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTATACTCA GGCTGACCCCCACCCCCGCGCGGGAAGTTCATGTTGTACTCAGCTGGACC CCACCCCCCACGCGGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCC CGGCGTGGGAAGTTCATGTTGTACTCAGCTGGACCCCACCCCCCGCGCGG GAAGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCA TGTTATACTCCGCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACT CCGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGA CCCCACCCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0074 a0074	a0074c0157 a0074c0157	a0074c0157t0001 a0074c0157t0001	a0074c0157t0001g0220 a0074c0157t0001g0220	1	258	0.0039	460	c.152 others(477): Show c.1520-685_1520-684insCGCGGGAAGTTCATGTTGTACTCAGCTG GACCCCACCCCCGCGCGGGAAGTTCATGTTGTACTCAGCTGGACCCCACC CCCGCGCGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCGGCGT GGGAAGTTCATGTTATACTCAGGCTGACCCCCACCCCCGCGCGGGAAGTT CATGTTGTACTCAGCTGGACCCCACCCCCCACGCGGGAAGTTCATGTTAT ACTCAGGCTGACCCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGC TGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCC ACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGC GCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAG TTCATGTTATACTCAGCTGGACCCCACCCCCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
VCX3A_chrX_6528618_6540118	6533375	T T	TCCTCCCT others(453): Show TCCTCCCTCCCTCCCTCCCCACACCACCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCTTCCTTCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCT CTTACTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC CACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTTCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACC ACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	53	0.0189	460	c.36 others(469): Show c.369_*370insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGAAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGTAAGAGGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGG GGAGGGAGGAAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGGGGAGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		242		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(453): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	177	0.0056	460	c.53+ others(475): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(453): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATATATCTATCGATAGATAGATAGATGTATCTATCGATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	301	0.0033	460	c.53+ others(475): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATATATCTATCGATAG ATAGATAGATGTATCTATCGATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(453): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	301	0.0033	460	c.53+ others(475): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZC3H3_chr8_143432659_143546447	143486847	G G	GCCCCATC others(453): Show GCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CATCATCACGAAGCTCAGACACAGAACAGCACCCGCTACACGACCCCACC ACCACGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCACCACCA CGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCACCACCACGAA GCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTC AGACACACAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGAC ACAGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAG AACAGCACCCGCTACACGACCCCACCACCACGAAGCTCACACACAGAACA GCACCCGCTACACGACCCCACCACCACGAAGCTCAGACACACAACAGCAC CCGCTACACGA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0202 a0005c0005t0001g0202	1	295	0.0034	460	c.171 others(481): Show c.1716-11263_1716-11262insTCGTGTAGCGGGTGCTGTTGTGTG TCTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTGTG AGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTCTGAGCT TCGTGGTGATGGGGCAGTGTAGCGGGTGCTGTTCTGTGTCTGAGCTTCGT GGTGGTGGGGCCGTGTAGCGGGTGCTGTTGTGTGTCTGAGCTTCGTGGTG GTGGGGCCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGG GGTCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGGGGTC GTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGGGGTCGTGT AGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGATGATGGGGCCGTGTAGCG GGTGCTGTTCTGTGTCTGAGCTTCGTGGTGATGGGG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143486847	G G	GCCCCATC others(453): Show GCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CATCATCACGAAGCTCAGACACAGAACAGCACCCGCTACACGACCCCACC ACCACGAAGCTCACATACAGAACAGCACCCGCTACACGACCCCACCACCA CGAAGCTCACACACAGAACAGCACCCACTACACGACCCCACCACCACGAA GCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTC AGACACACAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGAC ACAGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAG AACAGCACCCGCTACACGACCCCACCACCACGAAGCTCACACACAGAACA GCACCCGCTACACGACCCCACCACCACGAAGCTCAGACACACAACAGCAC CCGCTACACGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0219 a0005c0015t0001g0219	1	295	0.0034	460	c.171 others(481): Show c.1716-11263_1716-11262insTCGTGTAGCGGGTGCTGTTGTGTG TCTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTGTG AGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTCTGAGCT TCGTGGTGATGGGGCAGTGTAGCGGGTGCTGTTCTGTGTCTGAGCTTCGT GGTGGTGGGGCCGTGTAGCGGGTGCTGTTGTGTGTCTGAGCTTCGTGGTG GTGGGGCCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGG GGTCGTGTAGTGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGGGGTC GTGTAGCGGGTGCTGTTCTGTATGTGAGCTTCGTGGTGGTGGGGTCGTGT AGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGATGATGGGGCCGTGTAGCG GGTGCTGTTCTGTGTCTGAGCTTCGTGGTGATGGGG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143486847	G G	GCCCCATC others(453): Show GCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CATCATCACGAAGCTCAGACACAGAACAGCACCCGCTACACGACCCCACC ACCACGAAGCTCACATACAGAACAGCACCCGCTACACGACCCCACCACCA CGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCACCACCACGAA GCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTC AGACACACAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGAC ACAGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAG AACAGCACCCGCTACACGACCCCACCACCACGAAGCTCACACACAGAACA GCACCCGCTACACGACCCCACCACCACGAAGCTCAGACACACAACAGCAC CCGCTACACGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00741.hp1 others(22): Show HG00423.hp1 HG00597.hp1 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG02027.hp2 HG02040.hp1 HG02258.hp2 HG02523.hp2 HG02683.hp2 HG02735.hp1 HG03669.hp1 HG04204.hp1 NA18947.hp2 NA18962.hp1 NA18967.hp1 NA18975.hp1 NA18995.hp2 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19064.hp2 NA19085.hp1	a0005 a0009 a0015 others(3): Show a0005 a0009 a0015 a0025 a0030 a0038	a0005c0005 a0005c0015 a0009c0014 others(4): Show a0005c0005 a0005c0015 a0009c0014 a0015c0021 a0025c0031 a0030c0030 a0038c0032	a0005c0005t0001 a0005c0005t0002 a0005c0005t0004 others(6): Show a0005c0005t0001 a0005c0005t0002 a0005c0005t0004 a0005c0015t0001 a0009c0014t0001 a0015c0021t0002 a0025c0031t0001 a0030c0030t0001 a0038c0032t0002	a0005c0005t0001g0005 a0005c0005t0001g0192 a0005c0005t0001g0198 others(21): Show a0005c0005t0001g0005 a0005c0005t0001g0192 a0005c0005t0001g0198 a0005c0005t0001g0203 a0005c0005t0001g0204 a0005c0005t0001g0213 a0005c0005t0001g0217 a0005c0005t0002g0186 a0005c0005t0002g0206 a0005c0005t0002g0207 a0005c0005t0002g0208 a0005c0005t0002g0209 a0005c0005t0002g0210 a0005c0005t0002g0211 a0005c0005t0004g0197 a0005c0005t0004g0199 a0005c0015t0001g0222 a0005c0015t0001g0223 a0009c0014t0001g0185 a0015c0021t0002g0200 a0015c0021t0002g0201 a0025c0031t0001g0193 a0030c0030t0001g0191 a0038c0032t0002g0220	25	319	0.0784	460	c.171 others(481): Show c.1716-11263_1716-11262insTCGTGTAGCGGGTGCTGTTGTGTG TCTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTGTG AGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTCTGAGCT TCGTGGTGATGGGGCAGTGTAGCGGGTGCTGTTCTGTGTCTGAGCTTCGT GGTGGTGGGGCCGTGTAGCGGGTGCTGTTGTGTGTCTGAGCTTCGTGGTG GTGGGGCCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGG GGTCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGGGGTC GTGTAGCGGGTGCTGTTCTGTATGTGAGCTTCGTGGTGGTGGGGTCGTGT AGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGATGATGGGGCCGTGTAGCG GGTGCTGTTCTGTGTCTGAGCTTCGTGGTGATGGGG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143486847	G G	GCCCCATC others(453): Show GCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CATCATCACGAAGCTCAGACACAGAACAGCACCCGCTACACGACCCCACC ACCACGAAGCTCACATACAGAACAGCACCCGCTACACGACCCCACCACCA CGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCACCACCACGAA GCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTC AGACACACAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGAC ACAGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAG AACAGCACCCGCTACACGACCCCACCACCACGAAGCTCAGACACACAACA GCACCCGCTACACGACCCCACCACCACGAAGCTCAGACACACAACAGCAC CCGCTACACGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp2 HG01891.hp2 HG01099.hp2 HG01123.hp2 HG01891.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0214 a0005c0005t0001g0215 a0005c0005t0001g0216 a0005c0005t0001g0214 a0005c0005t0001g0215 a0005c0005t0001g0216	3	297	0.0101	460	c.171 others(481): Show c.1716-11263_1716-11262insTCGTGTAGCGGGTGCTGTTGTGTG TCTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTGTGTGTCTG AGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTCTGAGCT TCGTGGTGATGGGGCAGTGTAGCGGGTGCTGTTCTGTGTCTGAGCTTCGT GGTGGTGGGGCCGTGTAGCGGGTGCTGTTGTGTGTCTGAGCTTCGTGGTG GTGGGGCCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGG GGTCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGGGGTC GTGTAGCGGGTGCTGTTCTGTATGTGAGCTTCGTGGTGGTGGGGTCGTGT AGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGATGATGGGGCCGTGTAGCG GGTGCTGTTCTGTGTCTGAGCTTCGTGGTGATGGGG	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143486874	G G	GAACAGCA others(453): Show GAACAGCACCCGCTACACGGCCCCATCATCACGAAGCTCAGACACAGAAC AGCACCCGCTACACGACCCCACCACCACGAAGCTCACACACAGAACAGCA CCCGCTACACGACCCCACCACCACGAAGCTCACACACAGAACAGCACCCG CTACACGACCCCACCACCACGAAGCTCACACACAGAACAGCACCCGCTAC ACGGCCCCACCACCACGAAGCTCAGACACACAACAGCACCCGCTACACGG CCCCACCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACTGCCCC ATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGACCCCACCA CCACGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCACCACCAC GAAGCTCACACACAGAACAGCACCCGCTACACGACCCCATCACCACGAAG CTCAGACACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0205 a0005c0005t0001g0205	1	309	0.0032	460	c.171 others(481): Show c.1716-11290_1716-11289insGTGTGTCTGAGCTTCGTGGTGATG GGGTCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGGGGT CGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGGGGTCGTG TAGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGGTGATGGGGCAGTGTAGC GGGTGCTGTTCTGTGTCTGAGCTTCGTGGTGGTGGGGCCGTGTAGCGGGT GCTGTTGTGTGTCTGAGCTTCGTGGTGGTGGGGCCGTGTAGCGGGTGCTG TTCTGTGTGTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCT GTGTGTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGT GTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTCTGA GCTTCGTGATGATGGGGCCGTGTAGCGGGTGCTGTT	ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11			chr8	TogoVar
ZFPM1_chr16_88448280_88542031	88501335	G G	GTGGGCCC others(453): Show GTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGG GTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCGGGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACA TGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA CATGGGTGCGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0030 a0005c0007t0030	a0005c0007t0030g0198 a0005c0007t0030g0198	1	268	0.0037	460	c.268 others(479): Show c.268+12182_268+12183insTGGGCCCTCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGGGGGCCATCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCT GGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTG CTGGTGATGATGGAGATAGCAGACATGGGTGCGT	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9			chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88501384	C C	CGGGGGCC others(453): Show CGGGGGCCATCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGT GCGTGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGG TGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTGTGG GTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCGGGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGATGCGGGGGCCATCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACA TGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGAC ATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGG TGTGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAG ACATGGGTGCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	305	0.0033	460	c.268 others(479): Show c.268+12235_268+12236insGCCATCCCGCAGGTGCTGGTGATGAT AGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGA TAGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATG ATGGAGATAGCGGGTGTGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGAT GATGGAGATAGCAGACATGGGTGCGGGGGCTCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGATGCGGGGGCCATCCCGCAGGTGCTGGTG ATGATAGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGT GATGATAGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGG TGATGATGGAGATAGCGGGTGTGGGTGCGTGGGCCCTCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGGGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(454): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACC CCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCCC CACACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCA GCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	202	0.0050	461	c.61+ others(476): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGTGTGGGGGGGGTGGGCTGAGGTGATGTGTGGGGGGTGGGCTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGT GTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGG TGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTG GGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGA CTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACT GAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(454): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGA GGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGG GGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGG AGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAG GGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0156 a0001c0001t0001g0063 a0001c0001t0001g0156	2	31	0.0645	461	c.51 others(472): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCC TCCCCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCT CCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTC CTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCC TCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRB1_chr8_142444649_142550007	142500366	T T	TTCCTCCC others(454): Show TTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCCGCGCCGCTC CTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCC CCCGCCCCCCGCGCCTTTCCTCCCCCGCCCCCCGCGCCTTTCCTCCCCCG CCCCCCACGCCTTTCCTCCCCCGCCCCCCACGCCTTTCCTCCCCCGCCCC CCACGCCTTTCCTCCCCCGCCCCCCACGCCTTTCCTCCCCCGCCCCCCGC GCCTTTCCTCCCCCGCCCCCCACGCCTTTCCTCCCCCGCCCCCCACGCCT TTCCTCCCCCGCCCCCCACGCCTTTCCTCCCCCGCCCCCCGCGCCTTTCC TCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCC CCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGC CCCCCGCGCCGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	107	0.0093	461	c.267 others(480): Show c.2675+9559_2675+9560insCGCCCCCCGCGCCGCTCCTCCCCCGC CCCCCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCC CCGCGCCGCTCCTCCCCCGCCCCCCGCGCCTTTCCTCCCCCGCCCCCCGC GCCTTTCCTCCCCCGCCCCCCACGCCTTTCCTCCCCCGCCCCCCACGCCT TTCCTCCCCCGCCCCCCACGCCTTTCCTCCCCCGCCCCCCACGCCTTTCC TCCCCCGCCCCCCGCGCCTTTCCTCCCCCGCCCCCCACGCCTTTCCTCCC CCGCCCCCCACGCCTTTCCTCCCCCGCCCCCCACGCCTTTCCTCCCCCGC CCCCCGCGCCTTTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCC CGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCGCG CCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
AHRR_chr5_316714_443285	318182	C C	CCTCTCGC others(454): Show CCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCC CCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACC TCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCT CCCTTCCGCACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTG CATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCC TCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACC CTGCACCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02074.hp1 others(3): Show HG02040.hp1 HG02071.hp1 HG02074.hp1 NA18947.hp2 NA18967.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001	a0001c0001t0002g0107 a0001c0001t0003g0072 a0002c0002t0001g0049 others(3): Show a0001c0001t0002g0107 a0001c0001t0003g0072 a0002c0002t0001g0049 a0002c0002t0001g0098 a0002c0002t0001g0128 a0002c0002t0001g0134	6	261	0.0230	461	c.-36 others(472): Show c.-3648_-3647insCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCA CCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCC CCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCCCCATCTTTTAC CTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCA CCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCGCACCCTGCACCTCCCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3531		chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(454): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGA GGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGG GAGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGA GGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGAA GGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01517.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01517.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0022 a0002c0002t0001g0295 a0002c0002t0001g0005 a0002c0002t0001g0022 a0002c0002t0001g0295	4	140	0.0286	461	c.248 others(476): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTC CCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCC ACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTC ACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACCTTCCC CTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCA CTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCC ACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(454): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGTGGGAGG GGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAG AGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAG GCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGGGAG GCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGG GGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0259 a0001c0012t0001g0259	1	137	0.0073	461	c.248 others(476): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCCTCCCCCTCCC CTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCC TCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCT CCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCCTCCCCC TCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCC CTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCA CTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCC ACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCCGT others(454): Show ACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCA CCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	172	0.0058	461	c.-20 others(472): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTC ACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAG TGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTG TGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGG TGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCC GCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCA CGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(454): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTTGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	76	0.0132	461	c.955 others(478): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGT GGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTTGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(454): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCCCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCTG TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCCGTCCAGG CCCCCGACGCGTGCAGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	296	0.0034	461	c.36 others(472): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCCCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCTGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCCGTCCAGGCCCCCGACGCGTGCAGCCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
B4GALNT4_chr11_364499_387117	374952	G G	GAGGGAGG others(454): Show GAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	127	0.0157	461	c.784 others(476): Show c.784-502_784-501insAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(454): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCT CCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	12	0.0833	461	c.-45 others(482): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(454): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCC TTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCT TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCC CCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCC TCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	9	0.2222	461	c.69 others(472): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTC CCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTC CCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20320375	A A	ATATATAT others(454): Show ATATATATTATATATGTAATATAATATATGTAATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATATTATATA TATTATATATGCAATATATATTATATATATTATATATGCAATATATATTA TATATTACATATGTTATATATATTATATATTACATATGTAATATATATTA TATATGTAATATATATTACATATATTATATATGTAATATATATTATATAT GTAATATATATTATATATGTAATATATATTATATATGTAATATATAATAT ATATTACATATGTAATATATATTACATATGTAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTACATATGTAATATATA TTACATATGTAATATATATTATATATGTAATATATATTATATATGTAATA TATTATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0054 a0001c0023t0003g0054	1	228	0.0044	461	c.342 others(482): Show c.3423-21449_3423-21448insTATATATGTAATATAATATATGTA ATATATATTATATATGTAATATATATTATATATATTATATATGTAATATA TATTATATATATTATATATATTATATATGCAATATATATTATATATATTA TATATGCAATATATATTATATATTACATATGTTATATATATTATATATTA CATATGTAATATATATTATATATGTAATATATATTACATATATTATATAT GTAATATATATTATATATGTAATATATATTATATATGTAATATATATTAT ATATGTAATATATAATATATATTACATATGTAATATATATTACATATGTA ATATATATTATATATGTAATATATAATATATATTATATATGTAATATATA TTACATATGTAATATATATTACATATGTAATATATATTATATATGTAATA TATATTATATATGTAATATATTATATATATTATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(454): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTC CTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCT CTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCC TCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0064 a0001c0001t0031g0064	1	2	0.5000	461	c.162 others(482): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCT CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(454): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTC CTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCT CTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCC TCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp1 NA18982.hp1 HG01106.hp2 HG02055.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0031 a0001c0001t0088 a0001c0001t0015 a0001c0001t0031 a0001c0001t0088	a0001c0001t0015g0067 a0001c0001t0031g0063 a0001c0001t0088g0033 a0001c0001t0015g0067 a0001c0001t0031g0063 a0001c0001t0088g0033	3	4	0.7500	461	c.162 others(482): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCT CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(454): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTC CTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCT CTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCC TCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18941.hp1 HG00621.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0097 a0001c0001t0019g0076 a0001c0001t0004g0097 a0001c0001t0019g0076	2	3	0.6667	461	c.162 others(482): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCT CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(454): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTC CTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCT CTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCC TCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	2	0.5000	461	c.162 others(482): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCT CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A2_chr13_110302284_110518209	110355385	G G	GGGGGGAG others(454): Show GGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAG CTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGGG GGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCT CACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGG GAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGTACTAGCTC ACCTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0010 a0001c0114t0010	a0001c0114t0010g0034 a0001c0114t0010g0034	1	267	0.0037	461	c.100 others(478): Show c.100-1976_100-1975insTACTAGCTCACCTGTGTGTGTGGGGGAG GGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACC TGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAG GGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTCACCTG TGTGAGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGC TGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGTACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CATCCGTC others(454): Show CATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCA CCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTC CACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTC CATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATC CGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCA CCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02970.hp2 HG03239.hp1 HG02109.hp1 HG02970.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0002 a0001c0002t0002 a0001c0008t0002	a0001c0002t0002g0100 a0001c0002t0002g0328 a0001c0008t0002g0017 a0001c0002t0002g0100 a0001c0002t0002g0328 a0001c0008t0002g0017	3	5	0.6000	461	c.13 others(472): Show c.1317_*1318insATCCGTCCACCCATCTGTCCACCCGTCCGTCCAT CCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCC ACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCAC CCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCC ACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCAT CCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCC ATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCAC TCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CATCCGTC others(454): Show CATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCA CCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTC CACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCA TCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCACC CATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTC CATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATC CGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCA CCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0002 a0002c0004t0002g0002	1	3	0.3333	461	c.13 others(472): Show c.1317_*1318insATCCGTCCACCCATCTGTCCACCCGTCCGTCCAT CCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCC ACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCAC CCATCTGTCCACCCATCTGTCCACCCATCTGTCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCC ACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCAT CCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCC ATCCCCCCACCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCAC TCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CSF2RA_chrX_1263814_1314935	1284661	T T	TTTTTTTT others(454): Show TTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGA TCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATA CACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGAGG AGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTT TTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTC CAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTA ATTTAAATTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAA GACTAGTTTTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	114	0.0088	461	c.77- others(476): Show c.77-1097_77-1096insGAGATGGAGTCTTACTCTGTCTCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGAT CAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATAC ACCACCATGCCAAGCTAATTTAAATATTTTTTTTTTAATTTTATAGAGGA GATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTT TTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCC AGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAA TTTAAATTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAG ACTAGTTTTGATTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
DHRS12_chr13_51762993_51809163	51775857	A A	AGTATTCT others(454): Show AGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTA CAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACA GTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTAC AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACA GTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTAC AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAG TATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGT ATTCTCCTACAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG03225.hp1 HG02818.hp1 HG02965.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	350	0.0086	461	c.363 others(478): Show c.363+1202_363+1203insATGTAGGAGAATACTGTAGAATACATGT AGGAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATG TAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTA GGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGG AGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAG GAGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTA GGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGG AGAATACTGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAG GAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGA GAATACTGTAGGAGAATACATGTAGGAGAATAC	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(454): Show GAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGA GGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGA GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGA GAAGAAGGGAGGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAG AAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGG AGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAG AAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGG AGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	52	0.0192	461	c.158 others(478): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCT TCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTT CTTCTCCCCTCCCCTCCTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCT CCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCT CCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCT CCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556272	A A	ACCCCTCC others(454): Show ACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACA GCCGGATCCGAGGACAGCACCCACCCACCCCCTCCCACAGCCGGATCCGA GGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACAGCACCC ACCCACCCCCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCC ACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCC CAGGACAGCACCCACCCACCCCCTCCCACAGCCGGATCCGAGGACGGCAC CCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGG ATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACG GCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0003 a0001c0009t0001g0003	1	60	0.0167	461	c.86- others(478): Show c.86-69743_86-69742insGTGGGTGGGTGCCGTCCTGGGATCCGGC TGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGG TGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCC GTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTCGGATC CGGCTGTGGGAGGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCT GTCCTCGGATCCGGCTGTGGGAGGGGGGGTGGGTGGGTGCTGTCCTGGGA TCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTCGGATCCGGCTGTGG GAGGGGGTGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGT GGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1385414	A A	ACCCCGGC others(454): Show ACCCCGGCCTGTGCCTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTATGCCTGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCC GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGC CCGTCCCCTGAGAATTTGGTGCAGTTACCCCGGCCTGTGCCCGTCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTG GTGCACAGTTAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02074.hp2 HG02698.hp2 others(2): Show HG01071.hp2 HG02074.hp2 HG02698.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 a0001c0002 a0002c0001 a0002c0004	a0001c0002t0009 a0001c0002t0010 a0002c0001t0003 others(2): Show a0001c0002t0009 a0001c0002t0010 a0002c0001t0003 a0002c0001t0011 a0002c0004t0018	a0001c0002t0009g0039 a0001c0002t0010g0008 a0002c0001t0003g0021 others(2): Show a0001c0002t0009g0039 a0001c0002t0010g0008 a0002c0001t0003g0021 a0002c0001t0011g0002 a0002c0004t0018g0010	5	31	0.1613	461	c.107 others(482): Show c.107-115949_107-115948insCGGCCTGTGCCTGTCCCCTGAGAA CTTGGTGCACAGTTACCCCGGCCTATGCCTGGCCCCTGAGAACTTGGTGC ACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTAC CCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCT ATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGT CCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAG AACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGT GCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAATTTGGTGCAGTTAC CCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCT ATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1385414	A A	ACCCCGGC others(454): Show ACCCCGGCCTGTGCCTGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTATGCCTGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCC GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCG GCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGC CCGTCCCCTGAGAATTTGGTGCAGTTACCCCGGCCTGTGCCCGTCCCCTG AGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAACTTG GTGCACAGTTAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	27	0.0370	461	c.107 others(482): Show c.107-115949_107-115948insCGGCCTGTGCCTGTCCCCTGAGAA CTTGGTGCACAGTTACCCCGGCCTATGCCTGGCCCCTGAGAACTTGGTGC ACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTAC CCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCT ATGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGT CCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAG AACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGT GCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGAATTTGGTGCAGTTAC CCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCT ATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1521634	A A	ATCTGGTT others(454): Show ATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGAT ATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCA GGTGATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACT CGGGTGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTAATTTG GAATACTCGGGGGCAGGTGATTTGGGGCGTCTCTGGTTTGCACACTTGTT TTAATTTGGAATACTCAGGCAGCAGGTGATATGGGGCGTCTCTGGTTTGC ACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCT GGTTTGCACACGTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGG GGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCAGCTG ATATGGGGCGTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	14	0.0714	461	c.172 others(480): Show c.172+20303_172+20304insGTGATATGGGGCGTCTCTGGTTTGCA CACTTGTTTTAATTTGGAATACTCGGGTGGCAGGTGATATGGGGCATCTG GTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCAGGTGATTTGGGG CGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCAGGCAGCAGGT GATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGG GCGGCAGGTGATATGGGGCATCTGGTTTGCACACGTGTTTTAATTTGGAA TACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTAA TTTGGAATACTCGGGGGCAGCTGATATGGGGCGTCTCTGGTTTGCACACT TGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTT GCACACTTGTTTTAATTTGGAATACTCGGGGGCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK1_chr10_126900428_127457516	126947284	G G	GTGGTGGT others(454): Show GTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTT GGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0049 a0001c0009t0002g0049	1	133	0.0075	461	c.47- others(478): Show c.47-23391_47-23390insATGGTGGTGGTTGGTAGTATTACTGTTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGG TGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGT GGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTTGGTAGTATTACTGTTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948277	G G	GTGGTGAT others(454): Show GTGGTGATGGTGGTGTTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGG TAGTATTACTGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0004 a0004c0032t0004	a0004c0032t0004g0106 a0004c0032t0004g0106	1	129	0.0078	461	c.47- others(478): Show c.47-22411_47-22410insTTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGATGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(454): Show ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTGTATATATATAGTATATATATAGTGTATATATATAGTATATA TATAGTGTATATATAGTATATATAGTATATATGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATATAGTATATATATATA GTATATATATAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	248	0.0040	461	c.355 others(480): Show c.355-25620_355-25619insCTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTGTATATATATAGTATATATATAGTGTA TATATATAGTATATATATAGTGTATATATAGTATATATAGTATATATGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TAGTATATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241807616	C C	CCTCAGCC others(454): Show CCTCAGCCCAGGAACCTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACTCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	308	0.0032	461	c.34 others(472): Show c.3450_*3451insCTCAGCCCAGGAACCTCTGCAGGCCACTCTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACTCTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCC TCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACCTCTGCAGGCCACTCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3330		chr2	TogoVar
GPATCH2_chr1_217421992_217636090	217524926	G G	GGGAGAGG others(454): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	166	0.0060	461	c.109 others(482): Show c.1099-10038_1099-10037insTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46635291	G G	GACCCCGG others(454): Show GACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCC CCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGG CCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCT GTCCTGGGGGACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCC TGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGG GGACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGC CGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTA TCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGGCCGTGTCC TCCCTGCCCCCA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	196	0.0051	461	c.163 others(478): Show c.163-2549_163-2548insACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCC CACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGAC CCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCACCCCTGGCCA CTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCGGCCACTCC TGTCCTGGGAGGGCCGTGTCCTCCCTGCCCCCA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GSE1_chr16_85608322_85681200	85653242	T T	TCCCCCCT others(454): Show TCCCCCCTCCTCCCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTC CTCCCCACTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCC TCCTCCCCCCCCTCCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCCC CCTCCCCCCCTCCCTCCCCCCCTCCTCCCCCCCTCCCCCCTCCCCCCTCC TCCCCCCTCCTCCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCCCCC TCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCCTCC TCCCCCTCCTCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCCCCTCCTC CTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0014 a0003c0010t0014	a0003c0010t0014g0043 a0003c0010t0014g0043	1	258	0.0039	461	c.427 others(478): Show c.427-1034_427-1033insCCCCTCCTCCCCCCCCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCTCCCCACTCCTCCCCCCCTCCTCCCCCCTC CTCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCTCCCCCCTCCT CCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCTCCCCCCCTCCTCCCCC CCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCCCCCT CCTCCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCC CCCCCTCCTCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTC CTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169681	A A	ATATTGTA others(454): Show ATATTGTATATTATATAATATATAGTATATTATATAATATATAGTATATT GTATATTATATAATATATTGTATATTATATATAATATATTGTATATTATA TATAATATATTGTATATTATATATAATATATTGTATATTATATATAATAT GTTGTATATTATATATAATATATTGTATATTATATATAATATATTGTATA TTATATATTATATATTGTATATTATATATTATATATTGTATATTATATAT TATATATTGTATATTATATATTATATATTGTATATTATATATTATATAAT ATATTGTATATTATATATTATATAATATATTGTATATTATATATTATATA ATATATTGTATATTATATATTATATAATATATTGTATATTATATATTATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0181 a0001c0001t0044g0181	1	339	0.0029	461	c.-34 others(476): Show c.-34-786_-34-785insTGTATATTATATAATATATAGTATATTATA TAATATATAGTATATTGTATATTATATAATATATTGTATATTATATATAA TATATTGTATATTATATATAATATATTGTATATTATATATAATATATTGT ATATTATATATAATATGTTGTATATTATATATAATATATTGTATATTATA TATAATATATTGTATATTATATATTATATATTGTATATTATATATTATAT ATTGTATATTATATATTATATATTGTATATTATATATTATATATTGTATA TTATATATTATATAATATATTGTATATTATATATTATATAATATATTGTA TATTATATATTATATAATATATTGTATATTATATATTATATAATATATTG TATATTATATATTATATAATATATTGTATATTATATATTATATAATATAT TGTATATTATATATTATATAATATATTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP6_chrX_299759_323796	321751	C C	CAAAAAAA others(454): Show CAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCTATTATC TACAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGT GTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAG GATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGAC CCTATTATCTACAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCGGGCGT GGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCC CATTATCTACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0072	1	134	0.0075	461	c.-29 others(472): Show c.-2965_-2964insTTGTAGATAATGGGGTCTTACCATATTGCCCATG CTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGA GCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTC TTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTT TTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATT GCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGC GTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTT TTCTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2956		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106710005	T T	TTATATAC others(454): Show TTATATACATGTATACAACATATAGTTATGTATATTATATACATGTATAC AACATATAGTTATGTATATTATATACATGTATACAACATATAGTTATGTA TATTATATACATGTATACAACATATAGTTATGTATATTATATACATGTAT ACAACATATAGTTATGTATATTATATACATGTATACAACATATAGTTATG TATATTATATACATGTATACAACATATAGTTATGTATATTATATACATGT ATACAACATATAGTTATGTATATTATATACATGTATACAACATATAGTTA TGTATATTATATACATGTATACAACATATAGTTATGTATATTATATACAT GTATACAACATATAGTTATGTATATTATATACATGTATACAACATATAGT TATGTATATTATATACATGTATACAACATATAGTTATGTATATTATATAC ATGTATATAACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0118 a0001c0001t0009g0118	1	158	0.0063	461	c.183 others(480): Show c.1837-1340_1837-1339insTGTTATATACATGTATATAATATACA TAACTATATGTTGTATACATGTATATAATATACATAACTATATGTTGTAT ACATGTATATAATATACATAACTATATGTTGTATACATGTATATAATATA CATAACTATATGTTGTATACATGTATATAATATACATAACTATATGTTGT ATACATGTATATAATATACATAACTATATGTTGTATACATGTATATAATA TACATAACTATATGTTGTATACATGTATATAATATACATAACTATATGTT GTATACATGTATATAATATACATAACTATATGTTGTATACATGTATATAA TATACATAACTATATGTTGTATACATGTATATAATATACATAACTATATG TTGTATACATGTATATAATATACATAACTATATGTTGTATACATGTATAT AATATACATAACTATATGTTGTATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HBQ1_chr16_175459_186179	186119	G G	GGAGGAAC others(454): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	461	c.50 others(472): Show c.5011_*5012insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4941		chr16	TogoVar

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