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
ABR_chr17_998519_1184981	1118768	T T	TCCTCCCC others(372): Show TCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCATTATCCCTG AACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCAT TATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCT CCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCC GAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAAC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCA GCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTC CCTCCCAGCGTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0022 a0001c0001t0009g0022	1	249	0.0040	379	c.246 others(396): Show c.246+6414_246+6415insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG TTCAGGGATAATGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGAG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119170	T T	TCCTCCCA others(372): Show TCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTG AGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCTT TATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTC CCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATTGCCTGAGCCT GAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCTTCCCAGCGTTATCC CTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAG CGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTT CTCCCCAGCGTTATCGCTGAGCCTGAGTTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02698.hp1 HG02683.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0089 a0001c0001t0001 a0001c0001t0089	a0001c0001t0001g0064 a0001c0001t0089g0297 a0001c0001t0001g0064 a0001c0001t0089g0297	2	145	0.0138	379	c.246 others(396): Show c.246+6012_246+6013insGAACTCAGGCTCAGCGATAACGCTGGGG AGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAA CGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTC AGGGATAACGCTGGGAAGAACTCAGGCTCAGGGTTAACGCTGGGAGGGAC TCAGGCTCAGGCAATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCT GGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGA TAAAGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGG CTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAG G	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(372): Show GTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAG GGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACC TGCGGGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCC AGGCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGC TGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGC GGGAGGGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGC ACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGG GTCCAGGCACACCTGCGGGAGGGCTAGGGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0042 a0001c0001t0013g0042	1	114	0.0088	379	c.61+ others(396): Show c.61+26221_61+26222insTCCCTAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGT GTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTC CCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCC CAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGC CTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAG CCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGG A	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(372): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0058 a0006c0016t0058	a0006c0016t0058g0096 a0006c0016t0058g0096	1	25	0.0400	379	c.259 others(400): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCC ATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1592973	G G	GGTCTCCT others(372): Show GGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTCCCCTTCGTCCA AGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCATCCAG CTTCCCTCGCCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCC CTCTGTCACCCAGCTTCCCTCACCCAAGCCACCCTCCATAGGTCTCCTCT CTGGCATGGTCCCCTCTGTCACCCAGCTCCCTTCGCCAAAGCCACCCTCC ATAAGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCACC CAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCC AGCTCCCTTCGCCAAAGCCACCCTCCATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02257.hp2 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0030 a0002c0002t0005 a0001c0001t0030 a0002c0002t0005	a0001c0001t0030g0034 a0002c0002t0005g0033 a0001c0001t0030g0034 a0002c0002t0005g0033	2	106	0.0189	379	c.100 others(400): Show c.100+144077_100+144078insTTATGGAGGGTGGCTTTGGCGAAG GGAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGT GGCTTGGGTGAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAG ACTTATGGAGGGTGGCTTTGGCGAAGGGAGCTGGGTGACAGAGGGGACCA TGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGGGTG ACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGCGA GGGAAGCTGGATGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGG GTGGCTTGGACGAAGGGGAGCTGGGTGACAGAGGGGACCATGCCAGAGAG GAGAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111297	C C	CACCACAG others(372): Show CACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	234	0.0043	379	c.401 others(396): Show c.401+8455_401+8456insACCACAGGCACCTCCCTCCTAATCCCAC CAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCAC CTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCC TCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC A	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(372): Show TTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTC TTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	123	0.0081	379	c.-1- others(394): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(372): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCACTTTCCACCTCCCCCCTCACCT CCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTC CCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACC CTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCC CTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCATCCTGCACCTCCCCCCTCCACGCCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	92	0.0109	379	c.-37 others(390): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCACTTTCCA CCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCC CTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCA CCTCCCACCCTTACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCA TCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCT CCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(372): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 NA18975.hp1 HG02293.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0086 a0001c0001t0003g0073 a0001c0001t0003g0086	2	93	0.0215	379	c.-37 others(390): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCC CCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGC ACCTCCCACCCTTACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AHRR_chr5_316714_443285	318069	T T	TCCCTTGC others(372): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCCACCACC TCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCAC CCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCC CCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCC CTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCC ACCTCCCCCCTCCACCTCCCCCCTCACTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0147 a0005c0005t0014g0147	1	92	0.0109	379	c.-37 others(390): Show c.-3761_-3760insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTG CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3644		chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(372): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGGGGGAGGGGGGGGGGAGGAGGGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGG AGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGG AGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0291	1	183	0.0055	379	c.125 others(400): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCC TCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCCCTCCTCCCCCCCCCCTCCCCCCTCCTCCCC TTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCC TTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCAC CTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCC TCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(372): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATGAATATATATATCATATATTATATATGATATAT ATATCATATATGATATATATGAATATATATATCATATATGATATATATGA ATATATATATCATATATGATATATATGAATATATATATCATATATGATAT ATATGAATATATATATCATATATGATATATATATTCATATATATCATATA TGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0177 a0002c0001t0005g0177	1	268	0.0037	379	c.924 others(396): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATTCATATATATCATATATGAT ATATATATCATATATAATATATGATATATATATTCATATATATCATATAT GATATATATGAATATATATATCATATATGATATATATATTCATATATATC ATATATGATATATATATTCATATATATCATATATGATATATATATTCATA TATATCATATATGATATATATATTCATATATATCATATATGATATATATA T	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
AUTS2_chr7_69593475_70798506	70271409	A A	ACCTCTCT others(372): Show ACCTCTCTCTCCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	76	0.0132	379	c.660 others(400): Show c.660+136854_660+136855insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCTCTCTCC CTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(372): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGG AGCCTGCAGACAAACCCACACTCGACAGAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0242 a0001c0007t0005g0242	1	54	0.0185	379	c.297 others(396): Show c.297+8419_297+8420insGTCTGTCGAGTGTGGGTTTGTCTGCAGG CTCCCTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCGTCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCC GCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTC CCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCG CTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTC TGTGTGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTG TGTATCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTG T	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BIRC7_chr20_63230905_63245495	63235400	A A	AAGTGAGG others(372): Show AAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGGGAAGGGG AGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGG AGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGAGGAAGGG GGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGG GGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGGGGAAGTGGGGAAGGGGAAGGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	293	0.0034	379	c.-69 others(388): Show c.-697_-696insAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGG GAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAG GGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGA GGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGAGTGGGAGGAGGA AGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAGGGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		504		chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1204746	T T	TCCCAGAT others(372): Show TCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGAT CAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCG GGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGG TGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGC CGGGGAGGGGTGGGAGCCGCGGGTGGGGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	281	0.0071	379	c.245 others(396): Show c.2451+320_2451+321insCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCC G	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CGATCAGT others(372): Show CGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGT GCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01516.hp1 others(7): Show HG00639.hp1 HG00733.hp1 HG01516.hp1 HG01891.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG03041.hp2 HG03486.hp1 NA18906.hp2	a0002 a0003 a0002 a0003	a0002c0008 a0002c0010 a0002c0035 others(4): Show a0002c0008 a0002c0010 a0002c0035 a0002c0108 a0002c0109 a0002c0135 a0003c0107	a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 others(5): Show a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0002c0035t0001 a0002c0108t0025 a0002c0109t0001 a0002c0135t0040 a0003c0107t0004	a0002c0008t0001g0172 a0002c0008t0001g0316 a0002c0008t0002g0232 others(7): Show a0002c0008t0001g0172 a0002c0008t0001g0316 a0002c0008t0002g0232 a0002c0010t0001g0019 a0002c0035t0001g0155 a0002c0035t0001g0288 a0002c0108t0025g0143 a0002c0109t0001g0117 a0002c0135t0040g0282 a0003c0107t0004g0171	10	40	0.2500	379	c.245 others(396): Show c.2452-117_2452-116insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGG GGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGCGGGTGGGGACCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG G	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(372): Show CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCTCTCTCTCTTTC TTTCACCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCG CCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0096 a0005c0007t0006g0096	1	22	0.0455	379	c.482 others(396): Show c.482+1368_482+1369insCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT TCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCT TCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCT CTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTC C	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(372): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGA GGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0026 a0001c0001t0030g0026	1	66	0.0152	379	c.104 others(398): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(372): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTCC TTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCT TCTTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0270 a0002c0003t0003g0270	1	189	0.0053	379	c.774 others(394): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTCCTTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCT TCTTTCCTTCTTTCCTTCTTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDC73_chr1_193117031_193259815	193162111	T T	TATTATAT others(372): Show TATTATATTGTATATAATATATATCATATTATATTGTATATAATATATAT CATATTATATTGTATATAATATATATCATATTATATTGTATATAATATAT ATCATATTATATTGTATATAATATATATCATATTATATTGTATATAATAT ATATCATATTATATTGTATATAATATATATCATATTATATTGTATATAAT ATATATCATATTATATTGTATATAATATATATCATATTATATTGTATATA ATATATATCATATTATATTGTATATAATATATATCATATTATATTGTATA TAATATATATCATATTATATTGTATATAATATATATCATATTATATTGTA TATAATATATATCATATTATATTGTATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	270	0.0037	379	c.972 others(396): Show c.972+9669_972+9670insTATATTGTATATAATATATATCATATTA TATTGTATATAATATATATCATATTATATTGTATATAATATATATCATAT TATATTGTATATAATATATATCATATTATATTGTATATAATATATATCAT ATTATATTGTATATAATATATATCATATTATATTGTATATAATATATATC ATATTATATTGTATATAATATATATCATATTATATTGTATATAATATATA TCATATTATATTGTATATAATATATATCATATTATATTGTATATAATATA TATCATATTATATTGTATATAATATATATCATATTATATTGTATATAATA TATATCATATTATATTGTATATAATATATATCATATTATATTGTATATAA T	CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFAP61_chr20_20047532_20365698	20357035	C C	CTGAGGGG others(372): Show CTGAGGGGAGGTGGTCACAGTGTGAGAGGAGGTGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAG ATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG02717.hp1 others(2): Show HG01891.hp1 HG02572.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp2	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0004c0025 a0015c0037 a0001c0001 a0004c0025 a0015c0037	a0001c0001t0005 a0004c0025t0005 a0015c0037t0005 a0001c0001t0005 a0004c0025t0005 a0015c0037t0005	a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 others(2): Show a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 a0004c0025t0005g0140 a0015c0037t0005g0138	5	173	0.0289	379	c.351 others(398): Show c.3514-3171_3514-3170insGGGAGGTGGTCACAGTGTGAGAGGAG GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357035	C C	CTGAGGGG others(372): Show CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAG ATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0007 a0009c0014t0007	a0009c0014t0007g0006 a0009c0014t0007g0006	1	169	0.0059	379	c.351 others(398): Show c.3514-3171_3514-3170insGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357749	C C	CACTGAGG others(372): Show CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGG GGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGCGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTC ACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0013 a0002c0002t0006g0013	1	44	0.0227	379	c.351 others(398): Show c.3514-2460_3514-2459insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGT CATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTC ATAGTGTGCGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ATA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(372): Show GGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGG GAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGA CGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAA GGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGATGGGAGG GGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGG GAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGG GGAGGGGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0286 a0001c0004t0001g0286	1	183	0.0055	379	c.637 others(394): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCC TTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCG TCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTC CCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(372): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATACATATGATATATAT CAGATATATATATCATATATATCATTTGTATCATATATATATCATATATA TCATATGTATCATATATATCATGTATATATCATATATATCATATATATCA TATATGTATTCATATATATCATATATATTCATATATAATATATATTCATA TATCATATATATTCATATATATCATATATATTCATATATATATCATATAT ATTCATATATCATATATATTCATATATATC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG04184.hp1 HG06807.hp2 HG03225.hp1 HG04184.hp1 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0006 a0002c0003 a0002c0004 a0002c0006	a0002c0003t0020 a0002c0004t0001 a0002c0006t0003 a0002c0003t0020 a0002c0004t0001 a0002c0006t0003	a0002c0003t0020g0071 a0002c0004t0001g0068 a0002c0006t0003g0094 a0002c0003t0020g0071 a0002c0004t0001g0068 a0002c0006t0003g0094	3	131	0.0229	379	c.267 others(396): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATACATATGATATATATCAGATATATATATCATATATATCATTTGTAT CATATATATATCATATATATCATATGTATCATATATATCATGTATATATC ATATATATCATATATATCATATATGTATTCATATATATCATATATATTCA TATATAATATATATTCATATATCATATATATTCATATATATCATATATAT TCATATATATATCATATATATTCATATATCATATATATTCATATATATCA T	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COQ8A_chr1_226935294_226992544	226960342	G G	GTGGTGGT others(372): Show GTGGTGGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGTCAGTGGTACTT GGTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGGTGGTGGTGGT ACTTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGGCAG TGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGTGGTACTT GGTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGGTGGT GGAGATACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACT TGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGTGGTA GTGGCGGTGGTACTTGGTGGTGGTGGTGCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02083.hp1 HG01934.hp2 HG02083.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0009 a0002c0009t0009	a0002c0009t0009g0046 a0002c0009t0009g0046	2	408	0.0049	379	c.-9- others(394): Show c.-9-1027_-9-1026insCTTGGTGGTGGTGGTGGTACTTGGTGGTGT CAGTGGTACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTG GTGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTACTT GGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGG TGGTGGTACTTGGTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGC TTGGTGGTGGTGGAGATACTTGGTGGTGGTGATGGTACTTGGTGGTGGTG GTGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGT ACTTGGTGGTAGTGGCGGTGGTACTTGGTGGTGGTGGTGCTTGGTGGTG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226960345	G G	GTGGTGCT others(372): Show GTGGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGTCAGTGGTACTTGGT GGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACT TGGTGGTGGTGGTGGTACTTGGTGGTGATGGTACTTGGTGGTGGTGGTGG TACTTGGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGT GGTGGTGGTGGTACTTGGTGGTGGTGGCGGTGGTACTTGGTGGTGCTGGT GGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGATGGTACTTGGTGG TGGTGGTGGTGGTACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTG GCGGTACTTGGTGGTAGTGGCGGTGGTACT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0315 a0002c0004t0008g0315	1	410	0.0024	379	c.-9- others(394): Show c.-9-1027_-9-1026insCTTGGTGGTGGTGGTGGTACTTGGTGGTGT CAGTGGTACTTGGTGGTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTG GTGGTGATGGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGATGGTACTT GGTGGTGGTGGTGGTACTTGGTGGTGGCAGTGGTACTTGGTGGTGGTACT TGGTGGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGGCGGTGGTAC TTGGTGGTGCTGGTGGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGGTG ATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGTGGTGGTACTTGGTGGT ACTTGGTGGTGGTGGCGGTACTTGGTGGTAGTGGCGGTGGTACTTGGTG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89587744	G G	GCCCCCGT others(372): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGA TACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCG TGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGCCCCCGTGTCACCCACAGAAACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0014 a0002c0004t0014	a0002c0004t0014g0300 a0002c0004t0014g0300	1	216	0.0046	379	c.927 others(394): Show c.927+656_927+657insACAGATACACGGCCCCCGTGTCAGCCACAG ATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCG TGTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGAAACACGGCCCC CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(372): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCC CCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	54	0.0185	379	c.101 others(396): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC C	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(372): Show ATATATTATATATTATATGTATATTATGTATACATAATATTTATATATTA TATGTATATTATGTATACATAATATATTATATATTATATGTATATTATGT ATACATAATATTTATATATTATATGTATATTATGTATACATAATATATTA TATATTATATGTATATTATGTATACATAATATATTATATATTATATGTAT ATTATGTATACATAATATATTATATATTATATGTATATTATGTATACATA ATATTTATATATTATATGTATATTATGTATACATAATATATTATATATTA TATGTATATTATGTATACATAATATTTATATATTATATGTATATTATGTA TACATAATATATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	85	0.0118	379	c.896 others(396): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAAATATTATGTATACATAATATACA TATAATATATAATATATTATGTATACATAATATACATATAATATATAAAT ATTATGTATACATAATATACATATAATATATAATATATTATGTATACATA ATATACATATAATATATAATATATTATGTATACATAATATACATATAATA TATAATATATTATGTATACATAATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT A	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
DCLK2_chr4_150073445_150262438	150251007	A A	ATCCCCCA others(372): Show ATCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCC CACACCACACATCCCCCACACCACACATCCCCCACACCCCCAAATCCCCC ACACCCCCCACATCTCCCCACACCCCCCACATCCCCCACACCCCCCACAT CCCCCACACCCCCCACATCCCCCACACCACACATCCCCCACACCCCCCAC ATCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCC CACACCACACATCCCCCACACCACACATCCCCCACACCCCCAAATCCCCC ACACCCCCCACATCCCCCACACCCCCCACACATCCCCCACACCCCCCACA TCCCCCACACCCCCCACATCCCCCACACCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0072 a0002c0002t0006g0072	1	22	0.0455	379	c.207 others(398): Show c.2073+1323_2073+1324insTCCCCCACACCCCCACACACCCCCCA CACCACACATCCCCCACACCCCCCACACCACACATCCCCCACACCACACA TCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCACACCCCC CACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACAC CACACATCCCCCACACCCCCCACATCCCCCACACCCCCACACACCCCCCA CACCACACATCCCTCACACCCCCCACACCACACATCCCCCACACCACACA TCCCCCACACCCCCAAATCCCCCACACCCCCCACATCCCCCACACCCCCC ACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACA CCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DIP2C_chr10_269201_694668	478243	G G	GGAGAAGA others(372): Show GGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGA AGTTGGGAGGGGAGGGGAGGGGAGGGGAGATGAAGGGAGGGGAGAGGAGG GGAGGGGAGAAGAAGGGAGGGGAGGGGTGGGGAGGGGAGGGGAGGGGAGA AGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GGGAGAAGAAGGGAGGGAGGGGAGGGGAGGGGAGAGAAGGGAGGGAGAAG AAGGGAGGGGAGAAGAAGGAGGGGAGAGAAGAAGGGAGGGGAGAAGAAGG GAGGGTGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAGAAGGGAGG GGAGAAGAAGGGAGGGAGAAGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0009 a0001c0019t0006g0009	1	85	0.0118	379	c.158 others(396): Show c.158-5695_158-5694insTCCTCCCTTCTTCTCCCTCCCTTCTTCT CCCCTCCCTTCTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCACCC TCCCTTCTTCTCCCCTCCCTTCTTCTCTCCCCTCCTTCTTCTCCCCTCCC TTCTTCTCCCTCCCTTCTCTCCCCTCCCCTCCCCTCCCTCCCTTCTTCTC CCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCC CTTCTCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCTTCTTCTCCCCT CCCCTCCTCTCCCCTCCCTTCATCTCCCCTCCCCTCCCCTCCCCTCCCAA CTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCT C	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608557	C C	CCACACAC others(372): Show CCACACACACACACGCCCCCCCACACACACACACGCCCCCCCCACACACA CACACGCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCC CCCACACACACACATCCCCCCCACACACACACATCCCCCCCACACACACA CATCCCCCCCCACACACACACATCCCCCCCCACACACACATCCCCCCCCA CACACACATCCCCCCACACACACACACATCCCCCCACACACACACATCCC CCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACACACAC ACATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCA CACACACACATCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0002 a0001c0022t0003g0002	1	71	0.0141	379	c.85+ others(396): Show c.85+80936_85+80937insATGTGTGTGTGTGGGGGGGATGTGTGTG TGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGAT GTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGG GGGGGATGTGTGTGTGTGGGGGGATGTGTGTGTGTGTGGGGGGATGTGTG TGTGGGGGGGGATGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGA TGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTG GGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGCGTG TGTGTGTGTGGGGGGGGCGTGTGTGTGTGTGGGGGGGCGTGTGTGTGTGT G	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACATG others(372): Show CATACATGTATATATACACATATATACATACATGTATATATACACATATA TACATACATGTATATATACACATATATACATACATGTATATATACACATA TATACATACATGTATATATACACATATATACATACATGTATATATACACA TATATACATACATGTATATATACACATATATACATACATGTATATATACA CATATATACATACATGTATATATACACATATATACATATATGTATATATA CACATATATACATATATGTATATATACACATATATACATATATGTATATA TACACATATATACATATATGTATATATACACATATATACATATATGTATA TATACACATATATACATATACACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0015 a0001c0003t0023g0015	1	64	0.0156	379	c.-15 others(400): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATATATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATGTATGTA TATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACA TGTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACATG others(372): Show CATACATGTATATATACACATATATACATACATGTATATATACACATATA TACATACATGTATATATACACATATATACATACATGTATATATACACATA TATACATACATGTATATATACACATATATACATACATGTATATATACACA TATATACATACATGTATATATACACATATATACATATATGTATATATACA CATATATACATATATGTATATATACACATATATACATATATGTATATATA CACATATATACATATATGTATATATACACATATATACATATATGTATATA TACACATATATACATATATGTATATATACACATATATACATATATGTATA TATACACATATATACATATACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG02486.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0002 a0001c0001t0003 a0001c0004t0002	a0001c0001t0003g0076 a0001c0004t0002g0035 a0001c0001t0003g0076 a0001c0004t0002g0035	2	65	0.0308	379	c.-15 others(400): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATATATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATATATGTA TATATGTGTATATATACATATATGTATATATGTGTATATATACATGTATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACA TGTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACATG others(372): Show CATACATGTATATATACACATATATACATACATGTATATATACACATATA TACATACATGTATATATACACATATATACATACATGTATATATACACATA TATACATACATGTATATATACACATATATACATATATGTATATATACACA TATATACATATATGTATATATACACATATATACATATATGTATATATACA CATATATACATATATGTATATATACACATATATACATATATGTATATATA CACATATATACATATATGTATATATACACATATATACATATATGTATATA TACACATATATACATATATGTATATATACACATATATACATATATGTATA TATACACATATATACATATACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0037 a0001c0002t0008g0037	1	64	0.0156	379	c.-15 others(400): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATATATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATATATGTA TATATGTGTATATATACATATATGTATATATGTGTATATATACATATATG TATATATGTGTATATATACATATATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACA TGTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DNAJB6_chr7_157332004_157422439	157411220	T T	TTCCCTGC others(372): Show TTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTG AGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGG GAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCAC GGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCAC TGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGG GGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCC ACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGC ACTGAGCGGGGTGGGGGAGGCTCCCCAGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	90	0.0111	379	c.898 others(396): Show c.898+1245_898+1246insGCTCCCCACGGTTCCCTGCACTGAGCGG GGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGC TCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTC CCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGC GGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAG GCTCCCCACGGTTCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGT TCCCTGCACTGAGCGGGGTGGGGGAGGCTCCCCACGGTTCCCTGCACTGA GCGGGGTGGGGGAGGCTCCCCAGGATCCCTGCACTGAGCGGGGTGGGGGA G	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4EBP2_chr10_70399145_70433618	70407972	C C	CGGGCGGG others(372): Show CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTCC CCACCTCCCTCCCGGAAGGGGTGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0129 a0001c0002t0033g0129	1	27	0.0370	379	c.145 others(396): Show c.145+3496_145+3497insCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGTGGGGGGATGACCCC CCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCTC CCCACCTCCCTCCCGGAAGGGGTGGCTGGCTGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC C	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EXD3_chr9_137301896_137428162	137355563	G G	GGAGGAAG others(372): Show GGAGGAAGGAGGATGGAGGAAGGAGGAAGCAGGACGGAGGAAGGAGGATG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGG AGGAAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGA GGAAGGAGGACGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGA AAGGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGG AAGGAGAAAGGAGGAAGGAGGACGGAGGAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0019 a0018c0016t0001g0019	1	63	0.0159	379	c.757 others(394): Show c.757+704_757+705insTTCCTCCGTCCTCCTTCCTCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTT CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCGTCCTCCTTCC TCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTCCT CCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CATCCTCCTTCCTCCGTCCTGCTTCCTCCTTCCTCCATCCTCCTTCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FLT3_chr13_27998274_28105576	27999036	C C	CATATAAA others(372): Show CATATAAATATATATGTATATACATATAAATATATATGTATATACATATA AATATATATGTATATAAATATATATGTATGTATATTATATACATATAAAT ATATATATTTATATACATATAAATATATATTTACATACATATAAATATAT ATTTACATACATATAAATATATATATTTATATACATATAATACATATACA TATATACATATAAATATATATTTATATACATATAAATATATATATATACA TATAAATATATATTTATATACATATAAATATATATATACATATAAATATA TATATATTTATATACATATAAAATATATATATTTATATATATATTTATAT ACATATAAATATATAATTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0249 a0005c0007t0001g0249	1	225	0.0044	379	c.50 others(390): Show c.5015_*5016insTTATATGTATATAATTATATATTTATATGTATAT AAATATATATATAAATATATATATTTTATATGTATATAAATATATATATA TTTATATGTATATATATATTTATATGTATATAAATATATATTTATATGTA TATATATATATTTATATGTATATAAATATATATTTATATGTATATATGTA TATGTATTATATGTATATAAATATATATATTTATATGTATGTAAATATAT ATTTATATGTATGTAAATATATATTTATATGTATATAAATATATATATTT ATATGTATATAATATACATACATATATATTTATATACATATATATTTATA TGTATATACATATATATTTATATGTATATACATATATATTTATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4237		chr13	TogoVar
FOXJ3_chr1_42171548_42340235	42222034	G G	GAGGAGGA others(372): Show GAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGGA GAAGGAGAAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	273	0.0037	379	c.528 others(396): Show c.528+5848_528+5849insTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCT TCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCC T	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXP1_chr3_70949708_71588728	71435561	A A	AGGAAGGG others(372): Show AGGAAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGGCGGGAGGGACGGAG GGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAAGAAGGGAC GGAGGGAGGGAAGAAGGGACGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0042 a0001c0001t0021g0042	1	79	0.0127	379	c.-16 others(400): Show c.-168+57864_-168+57865insCCCTCCCTCCGTCCCTTCTTCCCT CCCTCCGTCCCTTCTTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTCCCGCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC CTTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCCCTCCC others(372): Show CCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCC CCCCACCCATCCCTCTCCTCCCGCCCCCCCCTCCAGCCTACCCCTCCCCC CGCCCACCCCTCCTCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACC TCTCCTCCCGCCTCCCCCCCCCAGCCTACCCCCCTCCCCCGCCCACCCCC CTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCG CCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCC CTCCAGCCTACCCCTCCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTAC CCCTCCCCCCGCCCCACCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0002 a0010c0024t0002	a0010c0024t0002g0000 a0010c0024t0002g0000	1	114	0.0088	379	c.33 others(390): Show c.3310_*3311insCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCT CCAGCCTACCCCTCCCCCCACCCATCCCTCTCCTCCCGCCCCCCCCTCCA GCCTACCCCTCCCCCCGCCCACCCCTCCTCCGCCCCCCTCCAGCCTACCC CTCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCCAGCCTACCCCCCT CCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCC CACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACC CACTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACTTCTCCC GCCCCCCCAGCCTACCCCTCCCCCCGCCCCACCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACAATGT others(372): Show TACAATGTATATATAATGTATATATACAATGTATATATAATGTATATATA ATTTATATATACAATGTATATATAATTTATATATACATTGTATATATAAA TTATATATACAATGTATATATAATTTATATATACAATGTATATATAATTT ATATATACATTGTATATACAATTTATATATACATTGTATATACAATTTAT ATATACATTGTATATACAATTTATATATACATTGTATATACAATTTATAT ATACATTGTATATACAATTTATATATAAATTGTATATACAATGTATATAT AAATTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAA ATTGTATATACAATGTATATATAAATTATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0068 a0001c0001t0060g0068	1	151	0.0066	379	c.976 others(396): Show c.976-2634_976-2633insACAATGTATATATAATGTATATATACAA TGTATATATAATGTATATATAATTTATATATACAATGTATATATAATTTA TATATACATTGTATATATAAATTATATATACAATGTATATATAATTTATA TATACAATGTATATATAATTTATATATACATTGTATATACAATTTATATA TACATTGTATATACAATTTATATATACATTGTATATACAATTTATATATA CATTGTATATACAATTTATATATACATTGTATATACAATTTATATATAAA TTGTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATT GTATATACAATGTATATATAAATTGTATATACAATGTATATATAAATTAT A	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GNE_chr9_36209441_36263448	36248775	T T	TGGCCTAT others(372): Show TGGCCTATAAACCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT GATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	371	0.0027	379	c.164 others(394): Show c.164+416_164+417insGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATC AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTGGTTTATAGGCC	GNE	ENSG00000159921.20	transcript	ENST00000642385.2	protein_coding	2/11			chr9	TogoVar
GNE_chr9_36209441_36281978	36248775	T T	TGGCCTAT others(372): Show TGGCCTATAAACCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT GATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0153 a0001c0001t0007g0153	1	353	0.0028	379	c.257 others(394): Show c.257+416_257+417insGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATC AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTGGTTTATAGGCC	GNE	ENSG00000159921.20	transcript	ENST00000396594.8	protein_coding	2/11			chr9	TogoVar
GPR157_chr1_9095305_9134102	9116190	A A	AATATAAT others(372): Show AATATAATTATATATATTATATATATAATATAATTATATATATTATATAT ATAATATAATTATATATATTATATATATAATATAATTATATATATTATAT ATATAATATAATTATATATATTATATATATAATATAATTATATATATTAT ATATATAATATAATTATATATATTTATATTATATATATTATATATAATAT AATTATATATATTTATATTATATATATATTATATTATATATAATTATATA TAATTATATATATATTATATTATATATAATTATATATAATTATATTATAT ATATTATATGTAATATAATTATATATATTTATATTATATATTATATATAA TATAATTATATATATAATTATAATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0021 a0001c0001t0021g0021	1	396	0.0025	379	c.384 others(396): Show c.384-4702_384-4701insATATATATTATAATTATATATATAATTA TATTATATATAATATATAATATAAATATATATAATTATATTACATATAAT ATATATAATATAATTATATATAATTATATATAATATAATATATATATAAT TATATATAATTATATATAATATAATATATATATAATATAAATATATATAA TTATATTATATATAATATATATAATATAAATATATATAATTATATTATAT ATATAATATATATAATTATATTATATATATAATATATATAATTATATTAT ATATATAATATATATAATTATATTATATATATAATATATATAATTATATT ATATATATAATATATATAATTATATTATATATATAATATATATAATTATA T	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
HMBOX1_chr8_28885395_29058262	28960219	A A	AATATTTA others(372): Show AATATTTAGGCTGTAAATTTTAAAACATTAATAATATGAATTTTAAAATA TTAAAGTCTTTAAGGCCATACATTTACTTTTGAATGCAACTTTTGTTGGG TCATTTGGGTTTTCTTTTTTTTTTTTTTCCTTAAGACGGAGTCTTGCTCT GTCACCCAGGCTGGAATGCAGTGGCGCTCACTGCAACCCCTGCTTCCCAG GTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCGCA CGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGTGGTGGAGCTTCA CTGTGTTGGCCAGGCTGGTCTCAAACTTCTGACTGCATGATCTGCCCTCC TCGGCCTCCCAAAGTGCTAGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02886.hp2 others(5): Show HG02280.hp1 HG02572.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014	a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0324 others(5): Show a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0006g0116 a0001c0001t0008g0121 a0001c0001t0014g0117 a0001c0001t0014g0118	8	340	0.0235	379	c.-57 others(396): Show c.-57-3590_-57-3589insATTTAGGCTGTAAATTTTAAAACATTAA TAATATGAATTTTAAAATATTAAAGTCTTTAAGGCCATACATTTACTTTT GAATGCAACTTTTGTTGGGTCATTTGGGTTTTCTTTTTTTTTTTTTTCCT TAAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCGCTCAC TGCAACCCCTGCTTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCTGAGT AGCTGGGCTTACAGGCGCACGCCACCACACTCAGCTAATTTTTGTATTTT TAGTAGTGGTGGAGCTTCACTGTGTTGGCCAGGCTGGTCTCAAACTTCTG ACTGCATGATCTGCCCTCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCA T	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMBOX1_chr8_28885395_29058262	28960219	A A	AATATTTA others(372): Show AATATTTAGGCTGTAAATTTTAAAACATTAATAATATGAATTTTAAAATA TTAAAGTCTTTAAGGCCATACATTTACTTTTGAGTGCAACTTTTGTTGGG TCATTTGGGTTTTCTTTTTTTTTTTTTTCCTTAAGACGGAGTCTTGCTCT GTCACCCAGGCTGGAATGCAGTGGCGCTCACTGCAACCCCTGCTTCCCAG GTTCAAGCAATTCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCGCA CGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGTGGTGGAGCTTCA CTGTGTTGGCCAGGCTGGTCTCAAACTTCTGACTGCATGATCTGCCCTCC TCGGCCTCCCAAAGTGCTAGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	333	0.0030	379	c.-57 others(396): Show c.-57-3590_-57-3589insATTTAGGCTGTAAATTTTAAAACATTAA TAATATGAATTTTAAAATATTAAAGTCTTTAAGGCCATACATTTACTTTT GAGTGCAACTTTTGTTGGGTCATTTGGGTTTTCTTTTTTTTTTTTTTCCT TAAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCGCTCAC TGCAACCCCTGCTTCCCAGGTTCAAGCAATTCTGCCTCAGCCTCCTGAGT AGCTGGGCTTACAGGCGCACGCCACCACACTCAGCTAATTTTTGTATTTT TAGTAGTGGTGGAGCTTCACTGTGTTGGCCAGGCTGGTCTCAAACTTCTG ACTGCATGATCTGCCCTCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCA T	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr8	TogoVar

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