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
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(616): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTGTATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACATGTATATATATATACGTATATATACATATATA CATGTATATATATACGTATATACACATATATATACATGTATATATATGTG TATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	183	0.0055	623	c.-42 others(634): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTGTATATAT ACGTATATATACATATATACGTATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACATGTATATATATATACGT ATATATACATATATACATGTATATATATACGTATATACACATATATATAC ATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(616): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACGTATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACATGTATATATATACGTATATATACATATATACA TGTATATATATATACGTATATACACATATATATACATGTATATATATGTG TATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	183	0.0055	623	c.-42 others(634): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACGTATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACATGTATATATATACGTAT ATATACATATATACATGTATATATATATACGTATATACACATATATATAC ATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(617): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	209	0.0048	624	c.49- others(639): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(617): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGTCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01257.hp2 HG01258.hp1 HG01123.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0130 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0002g0130 a0001c0001t0003g0128 a0001c0001t0003g0129	3	204	0.0147	624	c.61+ others(639): Show c.61+6419_61+6420insGGGGGGGTGGACTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTG ATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGAT GTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGG ACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAG GTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGT GATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGA TGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(617): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp2 HG02015.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0077 a0001c0001t0004 a0001c0001t0077	a0001c0001t0004g0258 a0001c0001t0077g0290 a0001c0001t0004g0258 a0001c0001t0077g0290	2	203	0.0099	624	c.61+ others(639): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGA CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGG TGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTG ATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGAT GTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGG ACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAG GTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGT GATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGA TGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173303	T T	TCCACCCC others(617): Show TCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTC CACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCA CCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCACC CAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACAC ATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCA GTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGT CCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCC ACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCG CCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACAT CACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTC AGTCCACTCAACACATCACCTCAGC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19063.hp1 NA18954.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0089 a0001c0001t0004g0301 a0001c0001t0001g0089 a0001c0001t0004g0301	2	308	0.0065	624	c.61+ others(639): Show c.61+6363_61+6364insGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGG GGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCT GAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGA GGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTT GGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGG GCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGC TGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTG AGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(617): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAA GGAAAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGG AAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAGAGATGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAGA GATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGA AAGGAGAGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAG GAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGA GGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGG GAGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0015 a0001c0005t0009g0015	1	25	0.0400	624	c.259 others(645): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTT CCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCT TTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCAT CTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTC CTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTC TCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATC TCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(617): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATACACGTATATACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACATATATATACACGTATATATA CGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACG TGTACACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACACACGTATATACG TATACGTGTACACACACATACACGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	112	0.0089	624	c.48- others(641): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACATATATATACACGT ATATATACGTATACGTGTACACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATATAC GTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATATACGTATACGTGTACACACACACGTATATACGT ATACGTGTACACACACACGTATATACGTATACGTGTACACACACACACGT ATATACGTATACGTGTACACACACATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(617): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTATATATATATATAAACT ATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATA TATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATA TATATATAAACTATATATATAGTTTATATATATATACTATATATATAGTT TATATATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATATACT ATATATATAGTTTATATATATATATACTATATATATAGTTTATATATATA TATACTATATATATAGTTTATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0301 a0001c0001t0038g0301	1	164	0.0061	624	c.331 others(643): Show c.3314-1170_3314-1169insATATATAAACTATATATATAGTATAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATAAACTATATATATAGTATATATATATAAACTATATA TATAGTATATATATATATAAACTATATATATAGTATATATATATATATAA ACTATATATATAGTATATATATATAAACTATATATATAGTTTATATATAT ATAAACTATATATATAGTTTATATATATATATACTATATATATAGTATAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTTTATATATATATATACTATATATATAGTATATATATATAAACTATATA TATAGTATATATATATAAACTATATATATAGTATATATATAAACTATATA TATAGTATATATATAAACTATATATATAGTATATATATATAAACTATATA TATAGTATATATATAGTATATATATACTATATATAGTATATATATATAAA CTATATATAGTATATATATATAAACTATATATATAGTATATATAAACTAT ATATATAGTATATATATATAAACTATATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79145733	G G	GGCTGCAT others(617): Show GGCTGCATGTCGGGGGAGCTGGCGGTGTGGAGAGTGACTGAAGGTGCAGG CTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGCT GCATGTCGGGGGAGCTGCCGGTGTGGAGAGTGACTGAAGGTGCAAGCTGC ATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCAT GTCGGGGGAGCTGGCAGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGT CGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCG GGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGGG GGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGGGGG AGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAG CTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCC GGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGG CGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGCG GTGTGCACAGTGACTGAAGGTGCAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0002 a0014c0034t0002	a0014c0034t0002g0229 a0014c0034t0002g0229	1	296	0.0034	624	c.726 others(641): Show c.726+1893_726+1894insGCGGTGTGGAGAGTGACTGAAGGTGCAG GCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGC TGCATGTCGGGGGAGCTGCCGGTGTGGAGAGTGACTGAAGGTGCAAGCTG CATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCA TGTCGGGGGAGCTGGCAGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATG TCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTC GGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGG GGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGGGG GAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGA GCTGGCGGTGTGCAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGC CGGCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTG GCGGTGTGGAGAGTGACTGAAGGTGCAGGCTGCATGTCGGGGGAGCTGGC GGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1190878	C C	CTTACTCA others(617): Show CTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTCGGGGTC TCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTCGGGGT CTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG TTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCA GGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TTGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCAC ACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGG CACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTC AGGCACACTCGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCT CAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCC TCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTG GCCTCAGGCACACTCAGGGTTTTGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG06807.hp1 NA19030.hp2	a0002 a0012 a0051 a0002 a0012 a0051	a0002c0012 a0012c0024 a0012c0062 others(2): Show a0002c0012 a0012c0024 a0012c0062 a0012c0131 a0051c0061	a0002c0012t0002 a0012c0024t0001 a0012c0024t0002 others(3): Show a0002c0012t0002 a0012c0024t0001 a0012c0024t0002 a0012c0062t0001 a0012c0131t0002 a0051c0061t0002	a0002c0012t0002g0332 a0012c0024t0001g0303 a0012c0024t0002g0334 others(3): Show a0002c0012t0002g0332 a0012c0024t0001g0303 a0012c0024t0002g0334 a0012c0062t0001g0108 a0012c0131t0002g0331 a0051c0061t0002g0330	6	336	0.0179	624	c.300 others(641): Show c.300-4093_300-4092insTACTCAGCAGGCTGGCCTGGCTGTGTGG CCTCCGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTG GCCTCCGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGT GGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTG TGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGG CTGTGTGGCCTCAGGCACACTTGGGGTCTCTGACCCAGTAGGCTGGCCTG GCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCT GGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGG CCTGGTTGTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGC TGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGTAGG CTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAG GCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAG CAGGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCAGGGTTTTGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(617): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTG TGAGAAGGCTCAGGCATTGATCAGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0087 a0001c0001t0088g0087	1	9	0.1111	624	c.565 others(641): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(617): Show ATATATATATAATTATATATATATAATTATATATATAATTTATATATATA TAATTATATATATAATTTTATATATATATAATTATATATATTTATATATA TATAATTATATATATATATAAAATTATATATATAATTATATATATTATAT ATAATTATATATATAATTTTATATATATAATTATATATATTTATATATAT ATATATAATTATATATATATATAAAATTATATATATAATTATATATATAT TATATATAATTATATATATATATTATATATAATTTTATATATATAATTAT ATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAA TTTTATATATATAATTATATATATAATTTTATATATATATAATTATATAT ATAATTTTATATATATATAATTATATATATAATTTTATATATATATAATT ATATATATAATTTTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTATATATATAATTTTATATATATAATTATATAT ATAATTTTATATATATATAATTATATATATAATTTTATATATATAATTAT ATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0175 a0001c0001t0007g0175	1	94	0.0106	624	c.907 others(639): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(617): Show ATATATATAATTATATATACAATTTTATATATATATAATTATATATATAT AATTATATATATAATTTTATATATATAATTATATATATAATTTTATATAT ATAATTATATATATAATTTTATATATATATAATTTTATATATAATTTTAT ATATAATTTTATATATAATTATATATATAATTTTATATATAATTATATAT ATAATTTTATATATAATTATATATATAATTTTATATATAATTATATATAT AATTTTATATATATATAATTATATATATTATATAATTTTATATATATAAT TATATATATTATATAATTATATATATAATTTTATATATATATAATTATAT ATACAATTTTATAATATATATAATTATATATACAATTTTATAATATATAT AATTATATATACAATTATATATATATATAATTATATATATATAATTGTAT ATATAATTTTATATATATAATTATATATAATTTTATATATATATAATTAT ATATATAATTATATATATATAATTATATATATTTATATATATATATAATT ATATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTAT ATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0162 a0003c0003t0001g0162	1	249	0.0040	624	c.907 others(639): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATTATAAAATTGTATATATA ATTATATATATATAAAATTATATATATAATTATATAATATATATAATTAT ATATATAAAATTATATAATATATATAATTATATATATATAAAATTATATA TATAATTATATATAAAATTATATATATAATTATATATAAAATTATATATA TAATTATATATAAAATTATATATATAATTATATATAAAATTATATATAAA ATTATATATAAAATTATATATATATAAAATTATATATATAATTATATATA TAAAATTATATATATAATTATATATATAAAATTATATATATAATTATATA TATATAATTATATATATATAAAATTGTATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(617): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCACGG GGAGGGGGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATC CTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGG GGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAG GAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGG GGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATC CTCACGGGGAAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGG GATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCCTCATGGGGAG GGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCAC AGGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0050 a0001c0005t0009g0050	1	5	0.2000	624	c.234 others(645): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTCA TGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCATGAGGAGGGGGGAT CCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGG GAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGG AAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCA GGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCC TCCTCAGGGGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGA GGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGG GGAGGGGATCCTCATGGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCT TGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(617): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACA CTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTC CCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCTG CCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	56	0.0179	624	c.-29 others(635): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(617): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACA CTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTC CCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG CCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	56	0.0179	624	c.-29 others(635): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CD3G_chr11_118339344_118360161	118355934	T T	TATGTGTG others(617): Show TATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACA CATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACA CACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATA CACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCA TACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACG CATACACACATATGTGTGTGTATACGCATACACACATGTGTGTGTATACG CATACACACATGTGTGTGTATACGCATACACACATGTGTGTGTATACGCA TACACACATGTGTGTGTATACGCATACACACATGTGTGTGTATACGCATA CACACATATGTGTGTGTGTATACGCATACACACATATGTGTGTGTGTATA CGCATACACACATATGTGTGTGTGTATACGCATACACACATATGTGTGTG TGTATACGCATACACACATATGTGTGTGTGTATACGCATACACACATATG TGTGTGTGTATACGCATACACACATATGTGTGTGTGTATACGCATACACA TATGTGTGTATGCGTATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	435	0.0023	624	c.28 others(635): Show c.2834_*2835insATGTGTGTGTATACGCATACACACATATGTGTGT GTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGT GTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGT GTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATAT GTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACAT ATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACAC ATGTGTGTGTATACGCATACACACATGTGTGTGTATACGCATACACACAT GTGTGTGTATACGCATACACACATGTGTGTGTATACGCATACACACATGT GTGTGTATACGCATACACACATATGTGTGTGTGTATACGCATACACACAT ATGTGTGTGTGTATACGCATACACACATATGTGTGTGTGTATACGCATAC ACACATATGTGTGTGTGTATACGCATACACACATATGTGTGTGTGTATAC GCATACACACATATGTGTGTGTGTATACGCATACACACATATGTGTGTGT GTATACGCATACACATATGTGTGTATGCGTATACACACAC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		774		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(617): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03471.hp2 HG02647.hp1 HG03471.hp2	a0002 a0005 a0002 a0005	a0002c0012 a0005c0040 a0002c0012 a0005c0040	a0002c0012t0077 a0005c0040t0002 a0002c0012t0077 a0005c0040t0002	a0002c0012t0077g0272 a0005c0040t0002g0032 a0002c0012t0077g0272 a0005c0040t0002g0032	2	67	0.0299	624	c.-25 others(635): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(617): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0006 a0005c0010t0006	a0005c0010t0006g0256 a0005c0010t0006g0256	1	66	0.0152	624	c.-25 others(635): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(617): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0043 a0006c0011t0002g0043	1	66	0.0152	624	c.-25 others(635): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(617): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0002 a0005c0010t0002	a0005c0010t0002g0156 a0005c0010t0002g0156	1	66	0.0152	624	c.-25 others(635): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(617): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0111 a0001c0004t0111	a0001c0004t0111g0330 a0001c0004t0111g0330	1	66	0.0152	624	c.-25 others(635): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(617): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0002 a0003c0023t0002	a0003c0023t0002g0002 a0003c0023t0002g0002	1	66	0.0152	624	c.-25 others(635): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(617): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAGGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCAGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0035 a0035	a0035c0059 a0035c0059	a0035c0059t0001 a0035c0059t0001	a0035c0059t0001g0213 a0035c0059t0001g0213	1	58	0.0172	624	c.141 others(641): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAGGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCAGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966203	A A	GATATTAG others(617): Show GATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01928.hp1 HG03239.hp2 others(3): Show HG00558.hp2 HG01928.hp1 HG03239.hp2 NA18962.hp1 NA18971.hp1 NA20752.hp1	a0002 a0008 a0011 others(1): Show a0002 a0008 a0011 a0021	a0002c0002 a0008c0009 a0011c0012 others(2): Show a0002c0002 a0008c0009 a0011c0012 a0011c0062 a0021c0022	a0002c0002t0001 a0008c0009t0001 a0011c0012t0001 others(2): Show a0002c0002t0001 a0008c0009t0001 a0011c0012t0001 a0011c0062t0001 a0021c0022t0001	a0002c0002t0001g0162 a0002c0002t0001g0171 a0008c0009t0001g0163 others(3): Show a0002c0002t0001g0162 a0002c0002t0001g0171 a0008c0009t0001g0163 a0011c0012t0001g0143 a0011c0062t0001g0172 a0021c0022t0001g0001	6	126	0.0476	624	c.141 others(641): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTT AAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAA GAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA AATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA TATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63			chrX	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(617): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	8	0.1250	624	c.217 others(639): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(617): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	8	0.1250	624	c.217 others(639): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLCN5_chrX_49917596_50104230	50057375	G G	GTCCTGGA others(617): Show GTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTAT CCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACT ATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATA CTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGA TACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATA GATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGA TAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTG GATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCC TGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCT CCTGGATAGATACTATCCAGGACTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	16	0.0625	624	c.164 others(643): Show c.164-12182_164-12181insATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCT GGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTC CTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTC TCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGAC TCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGG ACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCA GGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATC CAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTA TCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATAC TATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAG	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(617): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATAAAAATATATA TAAATATATAAAAAAATATAAATATATATAAATATATAAATATATGTAAA TATATATAAATATATATATAAATATATATATAAATATATATATATATAAA TATATATATAAATATATATATAAATATATATATAAATATATATATAAATA TATATAAATATATAACTATATAAATAAATATATATAAATATATAAATATA TAAAAATATATATAAATATATATGTAAATATATAAATATATATAAATATA TATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATA AATATATATAAATATATATAAGTATATAAATATATATATAAATATATATA AGTATATAAATATATATATAAATATATATAAGTATATAAATATATATATA AATATATATAAGTATATATAAATATATATAAGTATATATAAATATATAAA AATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	119	0.0084	624	c.181 others(643): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATTTATATACTTATATATATTTATAT ATATTTATATATATTTATATATTTACATATATATTTATATATATTTTTAT ATATTTATATATTTATATATATTTATTTATATAGTTATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATATATTTATATATATATTTATATATATATTTATATATAT TTACATATATTTATATATTTATATATATTTATATTTTTTTATATATTTAT ATATATTTTTATATATATTTATATATTTATAAATATATATATATTTATAT ATTTATAAATATATTTATATTTATATATATTTACATATATATTTAGAATT ACATATTTATATATATATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AGGGGGAA others(617): Show AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0295 a0002c0002t0002g0295	1	216	0.0046	624	c.85- others(641): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481528	C C	CTCCGTTG others(617): Show CTCCGTTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACAC TGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCC CTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTC CGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCT CTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAG ACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCT CTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGA CACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCG TGCTGGAGACACACAGTTCTGTCCT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0112 a0003c0026t0001g0112	1	328	0.0030	624	c.275 others(641): Show c.2759-967_2759-966insTTCTGTCCTTCCGTTGCTGGAGACACAC TGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCC CTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGG AGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTC CGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACTGCT CTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAG ACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCT CTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGA CACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCG TGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481916	C C	CTCCGTTG others(617): Show CTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTG GAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCT TCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACT GTTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCTGTCCCTC CGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTT CTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCG TGCTGGAGACACACTGTTCTGTCCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0060 a0007c0060	a0007c0060t0015 a0007c0060t0015	a0007c0060t0015g0264 a0007c0060t0015g0264	1	346	0.0029	624	c.275 others(641): Show c.2759-595_2759-594insTGCTGGAGACACACTGTTCTGTCCCTCC GTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCT CTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAG ACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCCTCC GTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTT CTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGA CACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACACACTGTTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCTGTGCTGGAGACA CACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTG CTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGT CCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACA CTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
CPNE4_chr3_131528569_132040014	131978428	T T	TTATATAT others(617): Show TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATTTATATATATATTTATATATATTTATATATATTTAT ATATTTATATATATTTATATATTTATATATATATTTATATATATTTATAT ATTTATATATATATTTATATATATTTATATATTTATATATATATTTATAT ATATTTATATATTTCTATATATATTTATATATTTATATATATTTATATAT ATTTATATATATATTTATATATTTATATATATTTTTATATATTTATATAT ATATTTATATATTTATATATATATTTATATATTTATATATATTTATATAT ATTTATATATTTATATATATTTATATATATTTATATATATTTATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0064 a0001c0001t0008g0064	1	42	0.0238	624	c.-2+ others(641): Show c.-2+56138_-2+56139insTAAATATATATATAAATATATATATAAA TATATATAAATATATATAAATATATATAAATATATATAAATATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATAAATATATATAAATATATATAAATATATATAAATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATAAATATATA TATAAATATATAAAAATATATATAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATAGAAATATATAAATATATA TAAATATATATATAAATATATAAATATATATAAATATATATATAAATATA TAAATATATATAAATATATATATAAATATATAAATATATATAAATATATA AATATATATAAATATATATAAATATATATATAAATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587808	C C	CCCCCGTG others(617): Show CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTTACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCGCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTAC CCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0165 a0001c0002t0004g0165	1	336	0.0030	624	c.927 others(639): Show c.927+710_927+711insGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTATAAC others(617): Show ACTATAACCATCACCACCATCACTGCTATAATCACCACCACCACCACCAT CACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCA CCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACC ACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCACCAC CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTA TAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACC ACCACCACCACCACCACCACCACTATAATCATTACCACTATAACCACCAC TACCACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCA TCATCATCACCACCACTACCACTACTATAACCATCACCACCATCACTGCT ATAACCACCACCACCACCACTATAACCACCACCACCACCACCACCACCAC TATAATCATTACCACTATAACCACCACTACCACCACTACCACTATGATAA CCATCACCAACACCACTATAACCACCATCATCATCACCACCACTACCACT ACTATAACCATTACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0122 a0001c0002t0041g0122	1	45	0.0222	624	c.724 others(643): Show c.724-10675_724-10674insCAGTGATGGTGGTAATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGTTGGTGATGGT TATCATAGTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAG TGGTGGTGGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATA GCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGAT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTAT AGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGG TGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTG GTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGT GGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGA TGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DOCK8_chr9_209865_470255	400959	C C	CCACCACC others(617): Show CCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACCACCACC ACCTCCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCAC CACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCA CCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCACC ACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCTC CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCTCCACCAC CAGCACTTCCACCATCACCACCTCCTTCACCATCACCACCTCCACCACCT CCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCATC GCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATAT CACTACCTCCTCCACCATCACCACCATCACCTCCACCACCACCACCACCT CCACCATCACCACCTCCTCCACCAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0051 a0051	a0051c0085 a0051c0085	a0051c0085t0003 a0051c0085t0003	a0051c0085t0003g0198 a0051c0085t0003g0198	1	218	0.0046	624	c.323 others(643): Show c.3234+1710_3234+1711insACCACCACCACCTCCACCACCACCAC CACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCA CCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCC TTCACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTC CACCACCACCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCA CCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACC ACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCAC CACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTA TCACCTCCAATATCACTACCTCCTCCACCATCACCACCATCACCTCCACC ACCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCTCC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99928107	G G	GTGGTGGT others(617): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGAGGTG GTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGTGGAGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	152	0.0066	624	c.190 others(643): Show c.1909+7245_1909+7246insTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGG TGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM120B_chr6_170301758_170412067	170399739	T T	TCTTAGGA others(617): Show TCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAATAGTAGTGAGTG GGAAGGTAGAACTATGTCATAACTCTAGGAGTGAGTGAACGAAAAGAGTG AGAACTCTGTCATAACTCATTAGGAGTGAGTGGGGAAGGTAGAACTATGT CAGAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGA GAAAGGTAGAACTATGTCATAACCTTAGGAGTGAGTGGGGAAGGTAGAAC TATGTCATTAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAA CCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAAGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTG GGGAAGGTAGAACTATGTCATAACC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	157	0.0064	624	c.269 others(643): Show c.2692+4176_2692+4177insAAAGGTAGAACTATGTCATAATAGTA GTGAGTGGGAAGGTAGAACTATGTCATAACTCTAGGAGTGAGTGAACGAA AAGAGTGAGAACTCTGTCATAACTCATTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCAGAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGAGAAAGGTAGAACTATGTCATAACCTTAGGAGTGAGTGGGGAAG GTAGAACTATGTCATTAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTAT GTCATAACCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTT AGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTG GGGAAGGTAGAACTATGTCATAACTCTTAAGAGTGAGTGAGAAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTCTTAGAAGTGAGTGGGGAAAGGTAGAACTATGTCATAACTCTTAGGA GTGAGTGGGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
GALR1_chr18_77244848_77282900	77252920	C C	CCACCATC others(617): Show CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCACCATCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0295 a0001c0001t0057g0295	1	354	0.0028	624	c.666 others(641): Show c.666+1708_666+1709insCCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCATCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(617): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	624	c.31 others(635): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTT GGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGG GGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTG TGTTAGACGCGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTCGTG TTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAG ACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGAC GCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGG AGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTG GGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGA CTCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCG TTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	331	0.0030	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAAC CCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCC TCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCAC CGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACCG CGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCG TCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGTC TAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCTA ACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAAC ACGAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGAAC GAGCCCTCCACGTCTAACACGAACGAGTCCACCGCGTCTAACACAACACG AACGAGTCCACCGCGTCTAACACGAACGAGTCCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACACGGTGGACTCGTTCG TGTTAGACGCGGTGGACTCGTTCGTGTTAGACGTGGAGGGCTCGTTCGTG TTAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAG ACGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGG AGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTG GGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGA CTCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCG TTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	331	0.0030	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAAC CCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCC TCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCAC CGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACCG CGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCG TCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGTC TAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCTA ACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGAAC GAGCCCTCCACGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGA GTCCACCGTGTCTAACACAACACGAACGAGTCCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTG TGTTAGACACGGTGGACTCGTTCGTGTTAGACGCCGTGGACTCGTTCGTG TTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAG ACGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGC GGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGG TGGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTG GGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGG TTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCG TTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	331	0.0030	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAGT CCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCCC ACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCAC CGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCCG CGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCG TCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGTC TAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTA ACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGAAC GAGTCCACGGCGTCTAACACGAACGAGTCCACCGTGTCTAACACAACACG AACGAGTCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTG TGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTG TTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAG ACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGC GGTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGG AGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTG GGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGA CTCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGTTCG TTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGGTTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02083.hp2 NA18970.hp1 others(2): Show HG02071.hp1 HG02083.hp2 NA18970.hp1 NA18972.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0173 a0001c0001t0001g0199 others(2): Show a0001c0001t0001g0082 a0001c0001t0001g0173 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0209	5	335	0.0149	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAAC CCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCC TCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCAC CGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACCG CGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCG TCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGTC TAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCTA ACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACAC GAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGAAC GAGTCCACCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACAACACG AACGAGTCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55032975	T T	TAGACGCG others(617): Show TAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTG TGTTAGACACGGTGGACTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTG TTAGACGTGGAGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTT AGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAG ACGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGC GGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGG TGGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTG GGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGG TTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATT CGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCG TTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACGCGGTGGGTTCGTTC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	331	0.0030	624	c.35- others(637): Show c.35-438_35-437insGAACGAACCCACCGCGTCTAACACGAACGAGT CCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCCC ACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCAC CGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCCG CGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCG TCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGTC TAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTA ACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAAC ACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACAC GAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGA ACGAGCCCGCCGCGTCTAACACGAACGAGCCCTCCACGTCTAACACGAAC GAGTCCACCGCGTCTAACACGAACGAGTCCACCGTGTCTAACACAACACG AACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAGA CGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCG GTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGGT GGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGG GCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGAGGGT TCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	265	0.0038	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCA CCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCC GCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGC GTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGT CTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACA CGAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAGA CGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCG GTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGGT GGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGG GCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGGT TCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	265	0.0038	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCA CCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCC GCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGC GTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGT CTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACA CGAACGAACCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGCGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCG GTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGA GGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGG GTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	265	0.0038	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGC GTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCTCCGCGT CTAACACGAACGAACCCACCGCGTCTAACACCAACGAGCCCACCGCGTCT AACACGAACGAGCCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACA CGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(617): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACG CGGTGGGCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCG GTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGGT GGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGG GCTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGAC TCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTT CGTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0197 a0011c0014t0001g0197	1	265	0.0038	624	c.35- others(637): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCA CCGCGTCTAACACGAACGAATCCACCGCGTCTAACACGAACGAGTCCACC GCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGC GTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGT CTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACA CGAACGAGCCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar

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