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
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(447): Show GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0200 a0003c0003t0001g0200	1	376	0.0027	454	c.-11 others(465): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAA AGAAAGAAAGAAAGAGAGAGAGAGACAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAGAGAGAGAGAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABR_chr17_998519_1184981	1173151	C C	CCCAACAC others(447): Show CCCAACACATCACCTCAGTCAACGCAACACATCACCTCAGTCCACTCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAG CCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCA GTCCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0037 a0001c0002t0008g0037	1	337	0.0030	454	c.61+ others(469): Show c.61+6515_61+6516insTGGACTGAGGTGATGTGTTGAGTGGACTGA GGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGAT GTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCG GGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGG GCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGAC TGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GCGTTGACTGAGGTGATGTGTTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTSL3_chr15_83649123_84044842	83695228	A A	ATGTGTGG others(447): Show ATGTGTGGTATATGTGTGTGTATGTGTGGTGTGTGGTGTGTATGGATGGT GTGTGTGGGGTATGTTAGGTGTGTGTGTGTGTATGTAGTGTGTGGTATGT GGTGTGTGTGCATTGTATGTGTTAGGTGTGTAGTGTGTGGTGTGTGAGTA CATTCAGTGTTTGGTGTATGTGTGGTATATTTGTGGTGTGTGTGTATATA TAGTGCGTGGTGTGTGTGGGGGTATGTTTGTGGTGTGTGTGTATATGTGT AATGTGTGGTATGTGATTGTGTATGTGCATGTGTGTGTGGTATGTGGTGT ATGTGTGTAGTGTGTTATATGTGTTTGTGTATGTGTGTTGTCTGTGTATG GTATGTTTGTGGTATGTATATGTGTAATGTGTGGTTATGTGTTTGTGTAT GTGTGTGTATGTGGTATATATTTTTTCTGTGTGTGTGGTATGCGTGCAGT GTCTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0072	1	274	0.0037	454	c.70- others(469): Show c.70-9155_70-9154insGTATATGTGTGTGTATGTGTGGTGTGTGGT GTGTATGGATGGTGTGTGTGGGGTATGTTAGGTGTGTGTGTGTGTATGTA GTGTGTGGTATGTGGTGTGTGTGCATTGTATGTGTTAGGTGTGTAGTGTG TGGTGTGTGAGTACATTCAGTGTTTGGTGTATGTGTGGTATATTTGTGGT GTGTGTGTATATATAGTGCGTGGTGTGTGTGGGGGTATGTTTGTGGTGTG TGTGTATATGTGTAATGTGTGGTATGTGATTGTGTATGTGCATGTGTGTG TGGTATGTGGTGTATGTGTGTAGTGTGTTATATGTGTTTGTGTATGTGTG TTGTCTGTGTATGGTATGTTTGTGGTATGTATATGTGTAATGTGTGGTTA TGTGTTTGTGTATGTGTGTGTATGTGGTATATATTTTTTCTGTGTGTGTG GTATGCGTGCAGTGTCTGTGTGTG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83695228	A A	ATGTGTGG others(447): Show ATGTGTGGTATATGTGTGTGTATGTGTGGTGTGTGGTGTGTATGGATGGT GTGTGTGGGGTATGTTAGGTGTGTGTGTGTGTATGTAGTGTGTGGTATGT GGTGTGTGTGCATTGTATGTGTTAGGTGTGTAGTGTGTGGTGTGTGAGTA CATTCAGTGTTTGGTGTATGTGTGGTATATTTGTGGTGTGTGTGTATATA TAGTGCGTGGTGTGTGTGGGGGTATGTTTGTGGTGTGTGTGTATATGTGT AATGTGTGGTATGTGATTGTGTATGTGCATGTGTGTGTGGTATGTGGTGT ATGTGTGTAGTGTGTTATATGTGTTTGTGTATGTGTGTTGTCTGTGTATG GTATGTTTGTGGTATGTATATGTGTAATGTGTGGTTATGTGTTTGTGTAT GTGTGTGTATGTGGTATGTATTTTTTCTGTGTGTGTGGTATGCGTGCAGT GTCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp2 others(55): Show HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00735.hp2 HG00738.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01516.hp1 HG02027.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02572.hp1 HG02723.hp2 HG02965.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0008 a0014 a0018 a0023 a0029 a0032 a0039 a0040 a0043	a0001c0001 a0001c0057 a0002c0002 others(13): Show a0001c0001 a0001c0057 a0002c0002 a0002c0008 a0003c0003 a0004c0004 a0005c0017 a0008c0010 a0014c0051 a0018c0043 a0023c0061 a0029c0053 a0032c0050 a0039c0038 a0040c0041 a0043c0044	a0001c0001t0001 a0001c0057t0001 a0002c0002t0001 others(15): Show a0001c0001t0001 a0001c0057t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0008t0001 a0003c0003t0001 a0004c0004t0001 a0005c0017t0001 a0008c0010t0001 a0014c0051t0001 a0018c0043t0001 a0023c0061t0001 a0029c0053t0001 a0032c0050t0001 a0039c0038t0001 a0040c0041t0001 a0043c0044t0002	a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0189 others(55): Show a0001c0001t0001g0029 a0001c0001t0001g0076 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0264 a0001c0057t0001g0204 a0002c0002t0001g0054 a0002c0002t0001g0134 a0002c0002t0001g0170 a0002c0002t0003g0132 a0002c0002t0004g0232 a0002c0008t0001g0203 a0003c0003t0001g0047 a0003c0003t0001g0121 a0003c0003t0001g0149 a0003c0003t0001g0166 a0004c0004t0001g0187 a0004c0004t0001g0195 a0005c0017t0001g0096 a0008c0010t0001g0243 a0014c0051t0001g0223 a0018c0043t0001g0220 a0023c0061t0001g0228 a0029c0053t0001g0244 a0032c0050t0001g0003 a0039c0038t0001g0224 a0040c0041t0001g0188 a0043c0044t0002g0219	58	274	0.2117	454	c.70- others(469): Show c.70-9155_70-9154insGTATATGTGTGTGTATGTGTGGTGTGTGGT GTGTATGGATGGTGTGTGTGGGGTATGTTAGGTGTGTGTGTGTGTATGTA GTGTGTGGTATGTGGTGTGTGTGCATTGTATGTGTTAGGTGTGTAGTGTG TGGTGTGTGAGTACATTCAGTGTTTGGTGTATGTGTGGTATATTTGTGGT GTGTGTGTATATATAGTGCGTGGTGTGTGTGGGGGTATGTTTGTGGTGTG TGTGTATATGTGTAATGTGTGGTATGTGATTGTGTATGTGCATGTGTGTG TGGTATGTGGTGTATGTGTGTAGTGTGTTATATGTGTTTGTGTATGTGTG TTGTCTGTGTATGGTATGTTTGTGGTATGTATATGTGTAATGTGTGGTTA TGTGTTTGTGTATGTGTGTGTATGTGGTATGTATTTTTTCTGTGTGTGTG GTATGCGTGCAGTGTCTGTGTGTG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
AK3_chr9_4704556_4746202	4713900	C C	CTACACAT others(447): Show CTACACATATACACCTCCACATATACACACCTCCACATACACACCTCCAC ATATACACGCCTCCACATATACACACCTACACATATACACCTACACATAT ACACGCCTACACATATACACGCCTACACATACACGCCTACACATATACGC CTACACGTATACACCTACACGTATACACCTCCACATATACACACCTCCAC ATATACACACCTCCACATATACACCTACACATATACACACCTACACATAT ACACACCTACACATATACACCTACACATATACACACCTCCACATATACAC CTACACATACACACCTACACATATACACCTACACATATACACACCTACAC ATATACACACCTCCACATACACACACCTCCACATATACACACCTACACAT ACGCCTACACATATATGCCTACACATATACGCCTACACATATACGCCTAC ACATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18989.hp1 NA19009.hp1 others(1): Show NA18747.hp2 NA18989.hp1 NA19009.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0062 a0001c0001t0002 a0001c0001t0003 a0001c0001t0062	a0001c0001t0002g0064 a0001c0001t0003g0273 a0001c0001t0003g0353 others(1): Show a0001c0001t0002g0064 a0001c0001t0003g0273 a0001c0001t0003g0353 a0001c0001t0062g0354	4	462	0.0087	454	c.564 others(469): Show c.564-805_564-804insTATGTGTAGGCGTATATGTGTAGGCGTATA TGTGTAGGCATATATGTGTAGGCGTATGTGTAGGTGTGTATATGTGGAGG TGTGTGTATGTGGAGGTGTGTATATGTGTAGGTGTGTATATGTGTAGGTG TATATGTGTAGGTGTGTATGTGTAGGTGTATATGTGGAGGTGTGTATATG TGTAGGTGTATATGTGTAGGTGTGTATATGTGTAGGTGTGTATATGTGTA GGTGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGGTG TATACGTGTAGGTGTATACGTGTAGGCGTATATGTGTAGGCGTGTATGTG TAGGCGTGTATATGTGTAGGCGTGTATATGTGTAGGTGTATATGTGTAGG TGTGTATATGTGGAGGCGTGTATATGTGGAGGTGTGTATGTGGAGGTGTG TATATGTGGAGGTGTATATGTGTA	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(447): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAG GAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGA GGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19079.hp2 HG02080.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0071 a0001c0001t0008g0169 a0001c0001t0008g0071 a0001c0001t0008g0169	2	301	0.0066	454	c.125 others(475): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCT CCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCT CCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCT CCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTT CACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(447): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGAGGGGAGT CGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGAGGGGAG GGGGGGTGGGAGGGGGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATG GGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAG GTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGGGAGGGGAAGGCGAGG GGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG GAGGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0283 a0002c0002t0001g0283	1	350	0.0029	454	c.248 others(469): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCTTCCCCT CGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTC CCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCC ACCCTCCCCCCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCA CCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTCCCCTC CCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACCTTCCCCTCCCCT CCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCT CACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCC TCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(447): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGA GGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAG GGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGG GGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGG GAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGG GAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp2 NA19240.hp2 others(1): Show HG00140.hp1 HG01361.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0139 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0142	4	350	0.0114	454	c.248 others(469): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCT CCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCC TCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTC CCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCT CCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCT CACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCC TCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(447): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGC GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	246	0.0041	454	c.-15 others(465): Show c.-1589_-1588insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC TGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTA GTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC TGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP8_chr22_44747575_44867784	44801141	G G	GGGGGCAC others(447): Show GGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCG CAGCTGTCCATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCCATGTGTGGG GGCGCCTCTCCCCGCAGCTGTCTATGTGTGAGGGGCGCCTCTCCCCGCAG CTGTCTTTGTGTGGGGGCACCTCTCCCCGCAGCTGTCTATGTGTGAGGGG CACCTCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCT GTCCATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCCATGTGTGGGGGCGC CTCTCCCCGCAGCTGTCCATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCC ATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCTATGTGTGAGGGGCGCCTC TCCCCGCAGCTGTCTTTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATG TGTGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0005 a0002c0020t0005	a0002c0020t0005g0047 a0002c0020t0005g0047	1	390	0.0026	454	c.80- others(467): Show c.80-717_80-716insCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGT CCATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCCATGTGTGGGGGCGCCT CTCCCCGCAGCTGTCCATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCCAT GTGTGGGGGCGCCTCTCCCCGCAGCTGTCTATGTGTGAGGGGCGCCTCTC CCCGCAGCTGTCTTTGTGTGGGGGCACCTCTCCCCGCAGCTGTCCATGTG TGAGGGGCACCTCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCC CGCAGCTGTCCATGTGTGGGGGCGCCTCTCCCCGCAGCTGTCCATGTGTG GGGGCGCCTCTCCCCGCAGCTGTCTATGTGTGAGGGGCGCCTCTCCCCGC AGCTGTCTTTGTGTGGGGGCACCTCTCCCCGCAGCTGTCTATGTGTGAGG GGCACCTCTCCCCGCAGCTGTC	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(447): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCACACTA CCCACCCCCATCACCCTCACTACCCATCACCCGCACACTACCCACCCCAT CACCCGCACACTACCCACCCCATCACCCGCACACTACCCAGGCCCATCAC CCCGCTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACG CCACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCAC CCACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCA CCCCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0073 a0003c0004t0002g0073	1	334	0.0030	454	c.147 others(471): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCACACTAC CCACCCCCATCACCCTCACTACCCATCACCCGCACACTACCCACCCCATC ACCCGCACACTACCCACCCCATCACCCGCACACTACCCAGGCCCATCACC CCGCTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCACGC CACCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCACC CACCCCATCACCCCCACGCCGCCCACCCCCATCACCCCCACGCCGCCCAC CCCATCACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP11A_chr13_112685038_112892168	112804357	C C	CCCTCCTT others(447): Show CCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTC TGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCC TCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCC CCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTC CTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCC TCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTT TTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTC CTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0164 a0001c0006t0001g0164	1	254	0.0039	454	c.163 others(469): Show c.163-593_163-592insTTCCTCCTTCCCTCCTTCACCTCCCTCCCC CCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCC CTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCT CCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTT CCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTT CCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCCCTC CTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCC CTCCTTCCCCTCCTTTTCCTCCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BCL11A_chr2_60452194_60558654	60467822	A A	ATGGTGGT others(447): Show ATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTAGTGATGGTGCTGGTGGTCATGGTACTTTGTGGTGATG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTAGTGATAAT GGTGGTGGTGGTGGTGATGGTGGTGATGGTACTGGTGGTGATGGTGGTGG TGGTAGTGATGGTGGTGGTTGTGGTGGTGGTGGTGATGCTACTGGTGGTG ATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTAGTGATGG TGGTGGTAATGGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTG GTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAAT GGTGG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0126 a0001c0001t0008g0126	1	262	0.0038	454	c.487 others(469): Show c.487+909_487+910insCCACCATTACCACCACCATCACTACCACCA CCACCATCACCACCAGTACCATCACCACCACCACCATCACTACCACCACC ACCACCACCACCACCATTACCACCACCATCACTACCACCACCACCATCAC TACCACCACCACCACCACCACCACCACCATCACCACCACCATCACTACCA CCACCACCATCACCACCAGTACCATCACCACCAGTAGCATCACCACCACC ACCACAACCACCACCATCACTACCACCACCACCATCACCACCAGTACCAT CACCACCATCACCACCACCACCACCATTATCACTACCACCACCACCACCA CCACCACCATCACCACCACCATCACCATCACCACAAAGTACCATGACCAC CAGCACCATCACTACCACCACCACCACCATCACCACCACCACCATTACCA CCACCATCACTACCACCACCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCCCCTCC others(447): Show CCCCCTCCTCCCCCCCACTCCTCTCCTCCCTCCTTCCCCCGACTCCTTCC CCTACTCATCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCGTCCCACTC CTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCTCCCCTCTTCTCCCC CACTCCTCCCCACCTCCTCTCCCCCTCCTTCTCCACTCCTCTCCCCTCCC ACTCCTCCCCCACTCCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCC ACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCT CCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACT CCTCT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	328	0.0031	454	c.178 others(469): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGA GTGGGGGAGGGAGTGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGA GGGGGAGAGGAGGTGGGGAGGAGTGGGGGAGAAGAGGGGAGAGCAGTGGG GGGAGGAGTGGGGGAGGAGGGGGAGGAGTGGGACGAGGAGGGGAGAGGAG TGGGGGAGGAGGGGAGATGAGTAGGGGAAGGAGTCGGGGGAAGGAGGGAG GAGAGGAGTGGGGGGGAGGAGGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(447): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCCTC TTCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCC CCTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTC TCCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACT CCTCTCCCCTCCCACTCCTCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCC ACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCT CCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACT CCTCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0114 a0001c0019t0001g0114	1	328	0.0031	454	c.178 others(469): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGA GTGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGTG GGGGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGGA GGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGA TGAGTAGGGGAAGGAGTCGGGGGAAGAGGGGGAGAGGAGTGGGGGGAGGA GGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(447): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCACCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCC ACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCT CCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACT CCTCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	328	0.0031	454	c.178 others(469): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGA GTGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGT GGTGGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGG AGGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAG ATGAGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGA GGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(447): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCC ACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCT CCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACT CCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(194): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0009 a0012 a0013	a0001c0001 a0001c0013 a0001c0014 others(6): Show a0001c0001 a0001c0013 a0001c0014 a0003c0009 a0003c0018 a0007c0007 a0009c0016 a0012c0015 a0013c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0013t0001 a0001c0014t0001 a0003c0009t0004 a0003c0018t0001 a0007c0007t0001 a0009c0016t0001 a0012c0015t0001 a0013c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0116 a0001c0001t0003g0010 a0001c0001t0009g0118 a0001c0013t0001g0054 a0001c0014t0001g0017 a0003c0009t0004g0070 a0003c0018t0001g0085 a0007c0007t0001g0018 a0007c0007t0001g0066 a0009c0016t0001g0071 a0012c0015t0001g0069 a0013c0017t0001g0038	197	328	0.6006	454	c.178 others(469): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGA GTGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGT GGGGGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGG AGGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAG ATGAGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGA GGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(447): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCCTCT TCCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCC CTCCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCT CCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTC CTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTC CCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTC TTCCTCCCACTCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCC ACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCT CCCCCACTCCTCTCCCCTCCTCCCCCACTCCTCTCCCCTCCTCCCCCACT CCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02109.hp2 others(5): Show HG00642.hp2 HG01891.hp1 HG02109.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp1 HG03195.hp1 NA18906.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0008	a0003c0012 a0004c0003 a0005c0005 others(1): Show a0003c0012 a0004c0003 a0005c0005 a0008c0008	a0003c0012t0002 a0004c0003t0001 a0005c0005t0001 others(1): Show a0003c0012t0002 a0004c0003t0001 a0005c0005t0001 a0008c0008t0001	a0003c0012t0002g0110 a0003c0012t0002g0111 a0004c0003t0001g0092 others(4): Show a0003c0012t0002g0110 a0003c0012t0002g0111 a0004c0003t0001g0092 a0005c0005t0001g0026 a0005c0005t0001g0112 a0008c0008t0001g0027 a0008c0008t0001g0028	8	328	0.0244	454	c.178 others(469): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGAGAGGAGAGG AGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGGGGAGGAGGG AGATGAGGAGTGGGGGGAGGAGGGGGAAGAGGGGGGAGGAGGGGACAGGA GTGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGGAGT GGGGGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGG AGGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAG ATGAGTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGA GGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(447): Show CCTCTGCCCTCCTCCCCCTTCCCCCTCCTCCCCCCACTCCTCTCCCTCTT CCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCCCT CCTCTCCCACTCCTCCCCCTCCTCCCCCACTCCTCCCCCCACTGCTCTCC CCTCTTCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTTCTCCACTCCTC TCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCCTCTTCCCC TCCTCCCCCCACTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTCCTCC CACTCCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACTCCT CCCCCACTCCTTCCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCCCAC TCCTCTCCCCTCCTCTCCCCCACTCCCCCCTCCTCCCCTCCTCCCCCACT CCTCT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	328	0.0031	454	c.178 others(469): Show c.178-662_178-661insAGAGGAGTGGGGGAGGAGGGGAGGAGGGGG GAGTGGGGGAGAGGAGGGGAGAGGAGTGGGGAGGAGTGGGGGGAAGAGAG GAGAGGAGTGGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGG AGTGGGGGAGGAGTGGGGGGGAGTGGGAGGAAGAGGGGAGAGGAGTGGGG AGGAGGGAGATGAGTGGGGGGAGGAGGGGAAGAGGGGGGAGGAGGGGACA GGAGTGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGGAGAGG AGTGGGGGAGGAGTGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGG GGAGGAGGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGG AGATGAGTAGGGGAAGGAGTCGGGGAAGAGGGAGAGGAGTGGGGGGAGGA GGGGGAAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(447): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAATAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGC ATGTG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	338	0.0030	454	c.300 others(471): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAATAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(447): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTC CTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCCTTTC TTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTT CCCTCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTC CTCCCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTC TCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTC CCCTCCTCTCCCCTCCCCTCCTCTCCTATCCTTTCTTCTCCTCTCCTCCC CTCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	118	0.0085	454	c.255 others(471): Show c.2556+667_2556+668insTCTCCTTTCTTCTCCTCTCCTCCCCTCC CTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCTCTCC TTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCC TCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTC ACCCCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCCCTCCTC TCTTCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCTCCTCTC CCCCGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCCTTCCTC ACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTC TCCTATCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCTCTCCTC CCTTCCCCTCCCCTCCCCTCCTCTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALN1_chr7_71774491_72417338	72114242	T T	TGGGAAGG others(447): Show TGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGTAAAAATAAAAGTGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0126 a0001c0001t0018g0126	1	142	0.0070	454	c.245 others(471): Show c.245-7949_245-7948insCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCACTTTTATTTTTACTCC CTTCCCTTCCCTTCCCTTCCCTTCCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(447): Show ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGTCGTCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC CACGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02717.hp2 HG01891.hp2 HG02630.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0067 a0001c0001 a0001c0067	a0001c0001t0001 a0001c0001t0016 a0001c0067t0016 a0001c0001t0001 a0001c0001t0016 a0001c0067t0016	a0001c0001t0001g0350 a0001c0001t0016g0283 a0001c0067t0016g0279 a0001c0001t0001g0350 a0001c0001t0016g0283 a0001c0067t0016g0279	3	410	0.0073	454	c.-22 others(471): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGC CTCCCCCACGTCGTCGCCTCCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(447): Show GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCG CGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0149 a0001c0003t0003g0149	1	288	0.0035	454	c.303 others(473): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTC TCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTC CTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTT CTCCCCGCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCTCC others(447): Show CCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCTCCCCCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCTCCCCCTCCCTCC CCTCCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCCTCTCCCTCCCCTCTCCCCTCCCTCCCCTCTCCCTCCCCTCCCCCTC CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCT CCTCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	256	0.0039	454	c.-45 others(475): Show c.-455+14572_-455+14573insTCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCC CTCCCCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCT CCCCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCTCTCCCTCCCCTCTCCCCTCCCTCCCCTCTCCCT CCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCTTCCCCTCCTCTCCCCTCCCCTCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960376	C C	CATATATG others(447): Show CATATATGTGTGTGTGTGCACATACATATATACATATATGTGTGTATGTG TGCACATACATATATACATATATGTGTGTATGTGTGCACATACATATATA CATGTATGTGTGTATGTGTGCACATACGGTATATACATATATGTGTGTAT GTGTGCACATACGGTATATACATATATGTGTGTATGTGTGCACATACGGT ATATACATATATGTGTGTATGTGTGCACATACGGTATATACATATATGTG TGTATGTGTGCACATACGGTATATACATATATGTGTGTATGTGTGCACAT ACGGTATATACATATATGTGTGTATGTGTGCACATACGGTATATACATAT ATGTGTGTATGTGTACACATACGGTATATACATATATGTGTGTATGTGTA CACATACGGTATATACATATATGTGTGTATGTGTACACATACGGTATATA CATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp2 HG02818.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0041 a0001c0001t0010 a0001c0001t0041	a0001c0001t0010g0069 a0001c0001t0041g0079 a0001c0001t0010g0069 a0001c0001t0041g0079	2	168	0.0119	454	c.253 others(473): Show c.253-58904_253-58903insATATGTATATACCGTATGTGTACACA TACACACATATATGTATATACCGTATGTGTACACATACACACATATATGT ATATACCGTATGTGTACACATACACACATATATGTATATACCGTATGTGC ACACATACACACATATATGTATATACCGTATGTGCACACATACACACATA TATGTATATACCGTATGTGCACACATACACACATATATGTATATACCGTA TGTGCACACATACACACATATATGTATATACCGTATGTGCACACATACAC ACATATATGTATATACCGTATGTGCACACATACACACATATATGTATATA CCGTATGTGCACACATACACACATACATGTATATATGTATGTGCACACAT ACACACATATATGTATATATGTATGTGCACACATACACACATATATGTAT ATATGTATGTGCACACACACACATATAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDHR2_chr5_176544342_176600824	176591689	A A	ATGATGGT others(447): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGAC GATGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0217 a0003c0002t0001g0217	1	344	0.0029	454	c.373 others(471): Show c.3734+278_3734+279insTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGA TGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK19_chr6_110604978_110820469	110773343	C C	CAAAAAAA others(447): Show CAAAAAAAAAAAAAAAAAGAGAGACTCATTAAGAAGGTCTCCATAGCAGG GCGTGGTGGCCAATGCCTATAATCTTAGCACTTTGGGAGGCTAAGGCGGG CAGATCGCTTGAGCCCAGGGGCTCAAGGCCAGCCTGGGCAACATGGGGAA ACCCCGTCTCTTAAAAAAAAAAAAAAAAGGTCTCTATAAAAACATATTTT ACAAGTGTGTGGGATGAGAACTAACTACAGGCAGATCACGAGGTCAAGAG ATCAAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTAATAAAAATA CAAAAATTAGCTGGGCGTGATGGTGCGTGTCTGTAGTTCCAGCTACTTGG GAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCCAAGATCGCACCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTG TCTCA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19090.hp1 NA18974.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0248 a0001c0001t0007g0234 a0001c0001t0003g0248 a0001c0001t0007g0234	2	300	0.0067	454	c.129 others(473): Show c.129-27143_129-27142insTGAGACAGAGTCTTGCTCTGTTGCCA GGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTG GGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTACAGA CACGCACCATCACGCCCAGCTAATTTTTGTATTTTTATTAGAGATGGGGT TTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCGTGATCTGCC TGTAGTTAGTTCTCATCCCACACACTTGTAAAATATGTTTTTATAGAGAC CTTTTTTTTTTTTTTTTAAGAGACGGGGTTTCCCCATGTTGCCCAGGCTG GCCTTGAGCCCCTGGGCTCAAGCGATCTGCCCGCCTTAGCCTCCCAAAGT GCTAAGATTATAGGCATTGGCCACCACGCCCTGCTATGGAGACCTTCTTA ATGAGTCTCTCTTTTTTTTTTTTTTTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	1/12			chr6	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(447): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	388	0.0026	454	c.487 others(471): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(447): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCC TTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCT CTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTC CTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02486.hp2 NA20129.hp2 HG02145.hp2 HG02486.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0001 a0001c0002t0001g0005	3	354	0.0085	454	c.69 others(465): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCC TCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCC CCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTC CTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(447): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATTAAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATTAAAATAAATA TTTATTTTAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATT TTATT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	402	0.0025	454	c.80- others(469): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATTAAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATTAAAATAAATATTTA TTTTAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATT AAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTAT TTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHST13_chr3_126519155_126548291	126539875	A A	ACACACCC others(447): Show ACACACCCCAAACCACACATGGACCCTCCACACACCACACACACACCACA CATTCCACACAAGCACACTACACCACACAAGCACACCACACGCATACCAC ACAAAAATGCCACACATTCCCACACACCACAAACACACCACCCACATGAC ACACACTACACACACACCACACACCATATATGCCACACACAACACACACA ACACACGCTACACACACACCCCATACACACACACCACACACACCAGACAC ACACAAACACCACACACACCAGACACAACACACAACACACACACACCACA GGTGTGCACCACACACACACATGCACAGACATACCACCTACCAAAAGTGT GCACCACACGCACCACGTGCATACCAACACACACCACACACACCATACAG ACACACCACACACACACCACACACACTCCATACACATACAACACACAACA CACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0117 a0003c0005t0001g0117	1	364	0.0028	454	c.181 others(471): Show c.181-1853_181-1852insCCCAAACCACACATGGACCCTCCACACA CCACACACACACCACACATTCCACACAAGCACACTACACCACACAAGCAC ACCACACGCATACCACACAAAAATGCCACACATTCCCACACACCACAAAC ACACCACCCACATGACACACACTACACACACACCACACACCATATATGCC ACACACAACACACACAACACACGCTACACACACACCCCATACACACACAC CACACACACCAGACACACACAAACACCACACACACCAGACACAACACACA ACACACACACACCACAGGTGTGCACCACACACACACATGCACAGACATAC CACCTACCAAAAGTGTGCACCACACGCACCACGTGCATACCAACACACAC CACACACACCATACAGACACACCACACACACACCACACACACTCCATACA CATACAACACACAACACACACCACAC	CHST13	ENSG00000180767.11	transcript	ENST00000319340.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLPTM1L_chr5_1312752_1350099	1333643	G G	GACTACTG others(447): Show GACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACAC ACGGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAA GGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTA TACACACCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAG GATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGGACTA CTGTATACACATTGGATGAGGATAAGGGGGACTACTGTATACACACCGGA TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCAGATGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGACAAG CGGGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18941.hp2 NA18939.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	370	0.0054	454	c.891 others(469): Show c.891+645_891+646insTCCCGCTTGTCCTCATCCGGTGTGTCTACA GTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGT ATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCC TTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGT GTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGTAGTC CCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCAT CCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAG TAGTCCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTATC CTCATCCGGTGTGTATACAGTAGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333664	T T	TGAGGATA others(447): Show TGAGGATAAGGGGGGACTACTGTATACACACGGGATGAGGATAAGGGGGG ACTACTGTATACACATTGGATGAGGATAAGGGGGGACTACTGTATACACA CCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGTAT ACACACGGGATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGG ATAAGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACT GTATACACACGGGATGAGGATAAGGGGGGACTACTGTATACACATTGGAT GAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGA CTACTGTAGACACACCGGATGAGGACAAGCGGGAACTACTGTATACACAC CGGAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18981.hp1 NA18993.hp2 others(1): Show NA18954.hp2 NA18981.hp1 NA18993.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0256 a0001c0001t0001g0283 a0001c0001t0001g0001 a0001c0001t0001g0256 a0001c0001t0001g0283	4	370	0.0108	454	c.891 others(469): Show c.891+624_891+625insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCC CCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCG GTGTGTATACAGTAGTCCCCCTTATCCTCATCCAATGTGTATACAGTAGT CCCCCCTTATCCTCATCCCGTGTGTATACAGTAGTCCCCCCTTATCCTCA TCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACA GTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTAT CCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGT ATACAGTAGTCCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL21A1_chr6_56051590_56252580	56098162	T T	TATATATA others(447): Show TATATATAAATATATATATATAAATATATATAAATATATAACTATATAAA TAAATATATATAAATATATAAATATATAAAAATATATATAAATATATATG TAAATATATAAATATATATAAATATATATAAGTATATAAATATATATATA AATATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAA TATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAG TATATATAAATATATATAAATATATATAAGTATATATAAATATATAAAAA TATATATAAGTATATATAAATATATATAAATATATATAAATATATGCAAA TATATATAAATATATATAAATAGATATATAAATAGATATAAATAGATATA AATAGATATATAAATACATATATAAATAGATATAAATACATATATAAATA TATAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0058 a0001c0001t0008g0058	1	264	0.0038	454	c.181 others(473): Show c.1812+3309_1812+3310insTTATATATTTATATATGTATTTATAT CTATTTATATATGTATTTATATATCTATTTATATCTATTTATATCTATTT ATATATCTATTTATATATATTTATATATATTTGCATATATTTATATATAT TTATATATATTTATATATACTTATATATATTTTTATATATTTATATATAC TTATATATATTTATATATATTTATATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATTTATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATTTATATATTTACATATATATTTATATATATTT TTATATATTTATATATTTATATATATTTATTTATATAGTTATATATTTAT ATATATTTATATATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098162	T T	TATATATA others(447): Show TATATATAAATATATATATATAAATATATATAAATATATAACTATATAAA TAAATATATATAAATATATAAATATATAAAAATATATATAAATATATATG TAAATATATAAATATATATAAATATATATAAGTATATAAATATATATATA AATATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAA TATATATAAATATATATAGGTATATAAATATATATATAAATATATATAAG TATATATAAATATATATAAATATATATAAGTATATATAAATATATAAAAA TATATATAAGTATATATAAATATATATAAATATATATAAATATATGCAAA TATATATAAATATATATAAATAGATATATAAATAGATATAAATAGATATA AATAGATATATAAATACATATATAAATAGATATAAATACATATATAAATA TATAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	264	0.0038	454	c.181 others(473): Show c.1812+3309_1812+3310insTTATATATTTATATATGTATTTATAT CTATTTATATATGTATTTATATATCTATTTATATCTATTTATATCTATTT ATATATCTATTTATATATATTTATATATATTTGCATATATTTATATATAT TTATATATATTTATATATACTTATATATATTTTTATATATTTATATATAC TTATATATATTTATATATATTTATATATACTTATATATATTTATATATAT ATTTATATACCTATATATATTTATATATATTTATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATTTATATATTTACATATATATTTATATATATTT TTATATATTTATATATTTATATATATTTATTTATATAGTTATATATTTAT ATATATTTATATATATATATTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CROCC2_chr2_240901336_240998311	240923836	C C	CCCCCACA others(447): Show CCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCC AGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAA CCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCACACT GACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGCCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCC CCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCAG TCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCC AGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAA CCCGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	350	0.0029	454	c.488 others(471): Show c.488+1195_488+1196insACACTAACCCAGTCCCCACACTAACCCA GCCCCCAACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACT AACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCC CAACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAG CCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCG GCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCAACACTAAC CCAGCCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924110	C C	CGCAGTCC others(447): Show CGCAGTCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACAC TGACCCGGCCCCCAACACTGACCCAGCCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCC CCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGG CCCCCCACACTAACCCGGCCCCCCACACTGACCCAGTCCCCACACTAACC CGGCCCCCACACTGACCCGGTCCCCACACTAACCCGGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACT AACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCAC ACTAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0122 a0012c0013t0001g0122	1	350	0.0029	454	c.488 others(471): Show c.488+1465_488+1466insGCAGTCCCCCACACTAACCCAGTCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCAACACTGACCCAGCCC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCAGT CCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCG GCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACT GACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCGGTCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTGACCCGGCCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCC CACACTAACCCGGCCCCCCACACTAA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
DHX9_chr1_182834347_182892982	182852939	C C	CTTTGAGG others(447): Show CTTTGAGGGATAAACTTTTTTAAATGCATGTAATAAACTTAGAGTTAATA GTCAGTGCTAGCTGCTATTTTTACTTATTTGGCGTTTTCATCAATAGTTA CCTTATTTCCATCACTAGTCCTAGCAGGTAGCTATCTCTTCAGAGTCATA TTTATCAAAGAAATGGTTTTATCATTTAATCTGTTGTTACATATGTAACA AGTTTAAAACAAAGCTATATTGATAATATAGGCTAAATTATCAGCCACTT CCTGTAATTCAACACTAAGATAGCTTCCCCCCTGCATATTAGCCTCAGAA TTTGTAGTTGGAACCTATACTTCAGTGATATAACACTTTTCAAGTAAGCC ATGGACTTTTCAGGCTTCTTTCCAGATTGAAACCATGAATTTCTAAACAT GGAGGGCCAAAATATAAATTAGGATAGTTTTTTTGTTTTTTTTGTTTTTT TTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0043	1	276	0.0036	454	c.365 others(469): Show c.365-364_365-363insGAGGGATAAACTTTTTTAAATGCATGTAAT AAACTTAGAGTTAATAGTCAGTGCTAGCTGCTATTTTTACTTATTTGGCG TTTTCATCAATAGTTACCTTATTTCCATCACTAGTCCTAGCAGGTAGCTA TCTCTTCAGAGTCATATTTATCAAAGAAATGGTTTTATCATTTAATCTGT TGTTACATATGTAACAAGTTTAAAACAAAGCTATATTGATAATATAGGCT AAATTATCAGCCACTTCCTGTAATTCAACACTAAGATAGCTTCCCCCCTG CATATTAGCCTCAGAATTTGTAGTTGGAACCTATACTTCAGTGATATAAC ACTTTTCAAGTAAGCCATGGACTTTTCAGGCTTCTTTCCAGATTGAAACC ATGAATTTCTAAACATGGAGGGCCAAAATATAAATTAGGATAGTTTTTTT GTTTTTTTTGTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHX9_chr1_182834347_182892982	182852939	C C	CTTTGAGG others(447): Show CTTTGAGGGATAAACTTTTTTAAATGCATGTAATAAACTTAGAGTTAATA GTCAGTGCTAGCTGCTATTTTTACTTATTTGGCGTTTTCATCAATAGTTA CCTTATTTCCATCACTAGTCCTAGCAGGTAGCTATCTCTTCAGAGTCATA TTTATCAAAGAAATGGTTTTATCATTTAATCTGTTGTTACATATGTAACA AGTTTAAAACAAAGCTATATTGATAATATAGGCTAAATTATCAGCCACTT CCTGTAATTCAACACTAAGATAGCTTCCCCCCTGCATATTAGCCTCAGAA TTTGTAGTTGGAACCTATACTTCAGTGATGTAACACTTTTCAAGTAAGCC ATGGACTTTTCAGGCTTCTTTCCAGATTGAAACCATGAATTTCTAAACAT GGAGGGCCAAAATATAAATTAGGATAGTTTTTTTGTTTTTTTTGTTTTTT TTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02976.hp1 others(6): Show HG02451.hp2 HG02622.hp2 HG02976.hp1 HG03195.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp1 NA19000.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0026 a0001c0001t0002g0049 a0001c0001t0002g0222 others(5): Show a0001c0001t0002g0026 a0001c0001t0002g0049 a0001c0001t0002g0222 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0136 a0001c0002t0001g0150 a0001c0002t0001g0191	9	276	0.0326	454	c.365 others(469): Show c.365-364_365-363insGAGGGATAAACTTTTTTAAATGCATGTAAT AAACTTAGAGTTAATAGTCAGTGCTAGCTGCTATTTTTACTTATTTGGCG TTTTCATCAATAGTTACCTTATTTCCATCACTAGTCCTAGCAGGTAGCTA TCTCTTCAGAGTCATATTTATCAAAGAAATGGTTTTATCATTTAATCTGT TGTTACATATGTAACAAGTTTAAAACAAAGCTATATTGATAATATAGGCT AAATTATCAGCCACTTCCTGTAATTCAACACTAAGATAGCTTCCCCCCTG CATATTAGCCTCAGAATTTGTAGTTGGAACCTATACTTCAGTGATGTAAC ACTTTTCAAGTAAGCCATGGACTTTTCAGGCTTCTTTCCAGATTGAAACC ATGAATTTCTAAACATGGAGGGCCAAAATATAAATTAGGATAGTTTTTTT GTTTTTTTTGTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHX9_chr1_182834347_182892982	182852939	C C	CTTTGAGG others(447): Show CTTTGAGGGATAAACTTTTTTAAATGCATGTAATAAACTTAGAGTTAATA GTCAGTGCTAGCTGCTATTTTTACTTATTTGGCGTTTTCATCAATAGTTA CCTTATTTCCATCACTAGTCCTAGCAGGTAGCTATCTCTTCAGAGTCATA TTTATCAAAGAAATGGTTTTATCATTTAATCTGTTGTTACATATGTAACA AGTTTAAAACAAAGCTATATTGATAATATAGGCTAAATTATCAGCCACTT CCTGTAATTCAACACTAAGATAGCTTCCCCCCTGCATATTAGCCTCAGAA TTTGTAGTTGGAACCTATACTTCAGTGATGTAACACTTTTCAAGTAAGCC ATGGACTTTTCAGGCTTCTTTCCAGATTGAAACCATGAATTTCTAAACAT GGAGGGCCAAAATATAAATTAGGATAGTTTTTTTGTTTTTTTTTGTTTTT TTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp2 HG03195.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0214 a0001c0004t0001g0215	2	276	0.0073	454	c.365 others(469): Show c.365-364_365-363insGAGGGATAAACTTTTTTAAATGCATGTAAT AAACTTAGAGTTAATAGTCAGTGCTAGCTGCTATTTTTACTTATTTGGCG TTTTCATCAATAGTTACCTTATTTCCATCACTAGTCCTAGCAGGTAGCTA TCTCTTCAGAGTCATATTTATCAAAGAAATGGTTTTATCATTTAATCTGT TGTTACATATGTAACAAGTTTAAAACAAAGCTATATTGATAATATAGGCT AAATTATCAGCCACTTCCTGTAATTCAACACTAAGATAGCTTCCCCCCTG CATATTAGCCTCAGAATTTGTAGTTGGAACCTATACTTCAGTGATGTAAC ACTTTTCAAGTAAGCCATGGACTTTTCAGGCTTCTTTCCAGATTGAAACC ATGAATTTCTAAACATGGAGGGCCAAAATATAAATTAGGATAGTTTTTTT GTTTTTTTTTGTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DHX9_chr1_182834347_182892982	182852939	C C	CTTTGAGG others(447): Show CTTTGAGGGATAAACTTTTTTAAATGCGTGTAATAAACTTAGAGTTAATA GTCAGTGCTAGCTGCTATTTTTACTTATTTGGCGTTTTCATCAATAGTTA CCTTATTTCCATCACTAGTCCTAGCAGGTAGCTATCTCTTCAGAGTCATA TTTATCAAAGAAATGGTTTTATCATTTAATCTGTTGTTACATATGTAACA AGTTTAAAACAAAGCTATATTGATAATATAGGCTAAATTATCAGCCACTT CCTGTAATTCAACACTAAGATAGCTTCCCCCCTGCATATTAGCCTCAGAA TTTGTAGTTGGAACCTATACTTCAGTGATGTAACACTTTTCAAGTAAGCC ATGGACTTTTCAGGCTTCTTTCCAGATTGAAACCATGAATTTCTAAACAT GGAGGGCCAAAATATAAATTAGGATAGTTTTTTTGTTTTTTTTTTTTTTT TTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	276	0.0036	454	c.365 others(469): Show c.365-364_365-363insGAGGGATAAACTTTTTTAAATGCGTGTAAT AAACTTAGAGTTAATAGTCAGTGCTAGCTGCTATTTTTACTTATTTGGCG TTTTCATCAATAGTTACCTTATTTCCATCACTAGTCCTAGCAGGTAGCTA TCTCTTCAGAGTCATATTTATCAAAGAAATGGTTTTATCATTTAATCTGT TGTTACATATGTAACAAGTTTAAAACAAAGCTATATTGATAATATAGGCT AAATTATCAGCCACTTCCTGTAATTCAACACTAAGATAGCTTCCCCCCTG CATATTAGCCTCAGAATTTGTAGTTGGAACCTATACTTCAGTGATGTAAC ACTTTTCAAGTAAGCCATGGACTTTTCAGGCTTCTTTCCAGATTGAAACC ATGAATTTCTAAACATGGAGGGCCAAAATATAAATTAGGATAGTTTTTTT GTTTTTTTTTTTTTTTTTTTTTTT	DHX9	ENSG00000135829.17	transcript	ENST00000367549.4	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1017180	G G	GTGACCAG others(447): Show GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGAG ACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGATGC CTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGACGACGCC TCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTATGAC CAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCTCC ACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGT GTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	454	c.73+ others(473): Show c.73+109230_73+109231insTGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAG ACGATGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTG TGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGA CGACGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCACTGTGTGTATGACCAGGACAGACGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619428	C C	CCCCCCCT others(447): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCATG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	250	0.0040	454	c.-10 others(473): Show c.-107+5714_-107+5715insCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EBF2_chr8_25836725_26050413	26005369	T T	TATATAAT others(447): Show TATATAATATATATAATATATAATTATATAAAATATATAATATATTATAT ATTATATATATTATATAAATATATAATATATTATATATAATTATATAAAT ATATAATATATTACATATAATTATATATATAATATATTTTATATATTAAA TTATATATAATATATATTATATATATAATTTATATATATAAAATATATTA TATATTATATAAATATATATATTTTATATATATAAAATATATATTTTATA ATATATAATATAGAAATATATATTATATAATATATAATTATATATAATTA TATATTATATAATATATATTTCTATATTATATATTTATAATGTATAATAT ATAAATATATTATAAATATATATTATATACTATATAATGCATTATAAATA TATTATATTTATATATTATAAATATATTACATATTTATATATTATATATA TAATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp2 HG01346.hp1 others(3): Show HG01081.hp1 HG01109.hp2 HG01346.hp1 HG01496.hp1 HG03654.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0032 a0001c0001t0002 a0001c0002t0001 a0001c0002t0032	a0001c0001t0002g0111 a0001c0002t0001g0108 a0001c0002t0001g0109 others(3): Show a0001c0001t0002g0111 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0149 a0001c0002t0032g0151	6	220	0.0273	454	c.551 others(473): Show c.551+27715_551+27716insTATTATATATATAATATATAAATATG TAATATATTTATAATATATAAATATAATATATTTATAATGCATTATATAG TATATAATATATATTTATAATATATTTATATATTATACATTATAAATATA TAATATAGAAATATATATTATATAATATATAATTATATATAATTATATAT TATATAATATATATTTCTATATTATATATTATAAAATATATATTTTATAT ATATAAAATATATATATTTATATAATATATAATATATTTTATATATATAA ATTATATATATAATATATATTATATATAATTTAATATATAAAATATATTA TATATATAATTATATGTAATATATTATATATTTATATAATTATATATAAT ATATTATATATTTATATAATATATATAATATATAATATATTATATATTTT ATATAATTATATATTATATATATTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
FGF22_chr19_634879_649373	642425	C C	CGGGCTGG others(447): Show CGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGG GGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGGTCCC TGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCCTGGGGTGGTG TGAGCTCTGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGT GAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCG GGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGG GGTCCCTGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCCTGGG GTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTG AGCTGTGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGA GGGCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0112 a0003c0003t0003g0112	1	434	0.0023	454	c.215 others(469): Show c.215-800_215-799insCTCCATATGGGGTGGTGTGAGCTGTGAGGG CCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTG GGGGGTCCCTGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCCT GGGGTGGTGTGAGCTCTGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGT GTGAGCTGTGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTG TGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCC GGGCTGGGGGGTCCCTGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGG CTCCCTGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCATATGG GGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGT GAGCTGTGAGGGCTGGGCTGGGGG	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
FMN2_chr1_240086883_240480187	240185147	T T	TCCCCTTC others(447): Show TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA ACTTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0086 a0001c0086	a0001c0086t0002 a0001c0086t0002	a0001c0086t0002g0174 a0001c0086t0002g0174	1	174	0.0058	454	c.193 others(473): Show c.1931-3038_1931-3037insTACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT AACTTCCCCCTTCTCTTTCTCCCTCCTA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(447): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACATACACTGTATATGTATATATAGTGTATATATACACTATACAC TGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATAT ATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATAT ACACTATATATACACTATATAGTGTATATATAGTATATATATACTGTATA TATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	204	0.0049	454	c.114 others(473): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATGTGTATATATACACTATATATACATATA CAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTATA TATACACTATATATACACTATATATGTATATATATACATATATAGTGTAT ATATAGTGTATATATACTATATATATAGTGTATATATACTATATATATAG TGTATATACACTATATATATAGTGTATATATACTATATATAGTGTATATA TACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALNT17_chr7_71127144_71718599	71679927	T T	TCCTCCCT others(447): Show TCCTCCCTCTATCCCTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCGCTC TCTCTTTCTCCCTCCTGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCTCTTCCTCCCTCCTCCTCTCCCTTCCTCCCTCCCTCTC TCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTC TCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCGCTCTCTCTTCCTC CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTC TCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	76	0.0132	454	c.150 others(473): Show c.1500+2630_1500+2631insATCCCTTCCTCCTCCCTCTCTCCCTT CCTCCCTCCCGCTCTCTCTTTCTCCCTCCTGCTCTCTCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCTCCTCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCC GCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCTCT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(447): Show TATATATAAATATATAAATATACATTTATATATAAATATATATAAATATA CATTTATATATAAATATATATAAATATACATTTATATATAAATATATATA AATATACATTTATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02257.hp1 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0059 a0001c0002t0002 a0001c0002t0059	a0001c0002t0002g0188 a0001c0002t0059g0169 a0001c0002t0002g0188 a0001c0002t0059g0169	2	208	0.0096	454	c.-97 others(471): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATATAAATATACATTTATATATAAATATATATAAATATACATTTA TATATAAATATATATAAATATACATTTATATATAAATATATATAAATATA CATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTA TTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCACATATA AATATATATAAATATACATGTATATTTATTCACATATAAATATATATAAA TATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar

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