Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(236): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCC CCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCC CACGCCCACCCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCT TCCAAAGCGCCCCCACGCCCACCCCCCCACCCCCAATCCTACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	388	0.0026	243	c.83- others(258): Show c.83-2241_83-2240insGTGTAGGATTGGGGGTGGGGGGGTGGGCGT GGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTG GGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGG AGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTC ACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGG AAGATGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VRK2_chr2_58041806_58164871	58137172	T T	TCATATAT others(236): Show TCATATATATCATATATATATCATATATATCATATATGATACATATATAT ATGATACATGTATCATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATATATC TCATATATGATACATATATATCTCATATATGATACATATATATCATATAT GATACATATATATCATATATGATACATATATATCATATATGATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	340	0.0029	243	c.856 others(260): Show c.856+1989_856+1990insATATCATATATATCATATATGATACATA TATATATGATACATGTATCATATATGATACATATATATCATATATATGAT ACATATATATCTCATATATGATACATATATATCTCATATATGATACATAT ATATCTCATATATGATACATATATATCTCATATATGATACATATATATCA TATATGATACATATATATCATATATGATACATATATATCATATATGATAC ATATATATCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(236): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	242	0.0041	243	c.917 others(262): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(236): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03579.hp2 HG02486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	242	0.0083	243	c.917 others(262): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(236): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	242	0.0041	243	c.917 others(262): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGA GTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(236): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03540.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0024 a0001c0001t0001g0027	2	242	0.0083	243	c.917 others(262): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA AAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTAC TCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGA GTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATTATAT others(236): Show TATTATATATATTATATATATATATAATATATATATATTATATATATATA TAATATATATATAATATATATATAATATATATATTATATATATAATATAT ATATTATATATATATATTATATATATATTATATAATATAATATTATTATA TATTATATAATATATATATAATATATAATAATATATAATATATATAATAT ATATATTATATATATATATTATATATATATAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0107 a0004c0003t0003g0107	1	330	0.0030	243	c.37 others(254): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATAATATATATA TATAATATATATATTATATATATTATATATTATTATATATTATATATATA TTATATAATATATAATAATATTATATTATATAATATATATATAATATATA TATATAATATATATATTATATATATAATATATATATTATATATATATTAT ATATATATTATATATATATATAATATATATATATTATATATATATATAAT ATATATAAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
ZNF611_chr19_52697813_52740044	52732292	A A	ATAACTCA others(236): Show ATAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGTTATT CTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGT TATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATT GAGTTATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAG TATTGAGTTATTCTGAGTAACTCACAGTATTGAGTTATTCTGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01255.hp2 HG01069.hp1 HG01071.hp1 HG01255.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0277 a0002c0002t0002g0275 a0002c0002t0002g0276 a0001c0001t0005g0277 a0002c0002t0002g0275 a0002c0002t0002g0276	3	408	0.0074	243	c.-22 others(262): Show c.-221-2288_-221-2287insCTCAGAATAACTCAATACTGTGAGTT ACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATACTGTG AGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATAC TGTGAGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCA ATACTGTGAGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAA CTCAATACTGTGAGTTA	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5			chr19	TogoVar
ZNF611_chr19_52697813_52740044	52732319	A A	ATAACTCA others(236): Show ATAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGTTATT CTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGT TATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATT GAGTTATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAG TATTGAGTTATTCTGAGTAACTCACAGTATTGAGTTATTCTGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02155.hp1 HG02735.hp2 others(6): Show HG00609.hp1 HG02155.hp1 HG02735.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18954.hp2 NA18962.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0002 a0002c0002t0006	a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 others(6): Show a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0006g0278	9	408	0.0221	243	c.-22 others(262): Show c.-221-2315_-221-2314insCTCAGAATAACTCAATACTGTGAGTT ACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATACTGTG AGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATAC TGTGAGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCA ATACTGTGAGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAA CTCAATACTGTGAGTTA	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5			chr19	TogoVar
ABHD12B_chr14_50867053_50909970	50870991	A A	AAGAAAGA others(237): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0352 a0001c0005t0004g0352	1	376	0.0027	244	c.-11 others(255): Show c.-1184_-1183insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1061		chr14	TogoVar
ACTRT3_chr3_169761921_169774561	169771338	A A	AATTATGT others(237): Show AATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAA ATATAAAAAATTATGTTTATATATCATAAATATAAAAATTTATGTTTATA TATCATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAA TTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATA AATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	418	0.0024	244	c.-18 others(255): Show c.-1819_-1818insAATTTTTATATATTTATTATATATAAACATAAAT TTTTATATATTTATTATATATAAACATAAATTTTTATATATTTATTATAT ATAAACATAAATTTTTATATATTTATTATATATAAACATAAATTTTTATA TATTTATGATATATAAACATAAATTTTTATATTTATGATATATAAACATA ATTTTTTATATTTATGATATATAAACATAATTTTTTATATTTATGATATA TAAACATAAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1778		chr3	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(237): Show TTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	218	0.0046	244	c.32- others(257): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAA GAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(237): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0013 a0003c0003t0002g0013	1	218	0.0046	244	c.32- others(257): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(237): Show TACACATATGTGTATATATGTATATATACACACATATATACACATATGTG TATATGTATATATACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACATATATACACATATG TGTATATGTATATGTACACATATATACACATATGTGTATATGTATATGTA CACATATATACACATATGTGTATATGTATATGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0135 a0001c0001t0057g0135	1	169	0.0059	244	c.48- others(261): Show c.48-70914_48-70913insCATATGTGTATATATGTATATATACACA CATATATACACATATGTGTATATGTATATATACACATATATACACATATG TGTATATGTATATGTACACATATATACACATATGTGTATATGTATATGTA CACATATATACACATATGTGTATATGTATATGTACACATATATACACATA TGTGTATATGTATATGTACACATATATACACATATGTGTATATGTATATG TACACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581331	T T	TATACACG others(237): Show TATACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0005 a0001c0003t0028g0005	1	169	0.0059	244	c.48- others(261): Show c.48-70667_48-70666insTACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581390	A A	ATACGTGT others(237): Show ATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTAT ACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTCTACGTGT ACACACATATACACGTATACGTCTACGTGTACACACATATACACG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0025 a0001c0001t0055g0025	1	169	0.0059	244	c.48- others(261): Show c.48-70607_48-70606insCGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATACACGTATACGTGTACACA CATATACACGTCTACGTGTACACACATATACACGTATACGTCTACGTGTA CACACATATACACGTA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AK3_chr9_4704556_4746202	4714112	A A	ACACCTCC others(237): Show ACACCTCCACATATACACACCTCCACATAAACACACCTCCACATATACAC ACCTACACATACGCCTACACATATACGCCTACACATATACGCCTACACAT ATACACACCTCCACATATACACACCTCCACATATACGCCTACACATATAC GCCTACACATATACACACCTCCACATATACACACCTCCACATATATGCCT ACACATATACGCCTACACATATACGCCTACACATATACACACCTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01981.hp2 HG02615.hp2 others(9): Show HG01099.hp1 HG01981.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02886.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0027 a0001c0001t0067 others(1): Show a0001c0001t0011 a0001c0001t0027 a0001c0001t0067 a0001c0001t0076	a0001c0001t0011g0018 a0001c0001t0011g0019 a0001c0001t0011g0020 others(9): Show a0001c0001t0011g0018 a0001c0001t0011g0019 a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0011g0115 a0001c0001t0011g0116 a0001c0001t0011g0195 a0001c0001t0011g0301 a0001c0001t0027g0100 a0001c0001t0027g0239 a0001c0001t0067g0209 a0001c0001t0076g0441	12	462	0.0260	244	c.564 others(261): Show c.564-1017_564-1016insGAGGTGTGTATATGTGTAGGCGTATATG TGTAGGCGTATATGTGTAGGCATATATGTGGAGGTGTGTATATGTGGAGG TGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGGAGGTGTGTA TATGTGGAGGTGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTG TAGGCGTATGTGTAGGTGTGTATATGTGGAGGTGTGTTTATGTGGAGGTG TGTATATGTGGAGGTG	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(237): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGGG GAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGAG GGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18960.hp2 HG03098.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0187 a0001c0001t0014g0137 a0001c0001t0004g0187 a0001c0001t0014g0137	2	356	0.0056	244	c.667 others(259): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCT CTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCT CTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(237): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGAGAGGGG GAGAGGGGGAAGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGAGAG GGGGGAGGGGAGAGGGGAGAGAGAAGGGAGGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0291 a0001c0001t0015g0291	1	356	0.0028	244	c.667 others(259): Show c.667-817_667-816insTCTCCCCTCCCCCCCCTCCCTTCTCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTC CCCCTTCCCCCTCTCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTC CCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCT CTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCTCTCCCCCCT CTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89398375	G G	GCTGTGAA others(237): Show GCTGTGAAACAGCTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTG ACATGAGGGACACTGTGAAACAGGTGAAGACTACCTGTGATCTCAGCACT CTGGAAGGCTGACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTG ATCTCAGCACTCTGGAAGGCTGACATGAGGGACACTGTGAAACAGGTGAA GATTACCTGTGATCTCAGCACTCTGGAAGGCTGACATGAGGGACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG03130.hp1 others(2): Show HG02723.hp1 HG02896.hp2 HG03130.hp1 HG03486.hp2 NA20300.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0022 a0002c0002 a0010c0029 others(1): Show a0001c0022 a0002c0002 a0010c0029 a0010c0037	a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0010c0029t0001 a0010c0037t0001	a0001c0022t0001g0263 a0002c0002t0001g0219 a0002c0002t0002g0220 others(2): Show a0001c0022t0001g0263 a0002c0002t0001g0219 a0002c0002t0002g0220 a0010c0029t0001g0136 a0010c0037t0001g0141	5	310	0.0161	244	c.-60 others(263): Show c.-60+19908_-60+19909insTGTCCCTCATGTCAGCCTTCCAGAGT GCTGAGATCACAGGTAATCTTCACCTGTTTCACAGTGTCCCTCATGTCAG CCTTCCAGAGTGCTGAGATCACAGGTAATCTTCACCTGTTTCACAGTGTC CCTCATGTCAGCCTTCCAGAGTGCTGAGATCACAGGTAGTCTTCACCTGT TTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAA TCTTCAGCTGTTTCACAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89398375	G G	GCTGTGAA others(237): Show GCTGTGAAACAGGTGAAGATTACCTGTGACCTCAGCACTCTGGGAGGCTG ACATGAGGGACACTGTGAAACAGGTGAAGATTACCTGTGACCTCAGCACT CTGGAAGGCTGACATGAGGGACACTGTGAAACAGCTGAAGATTACCTGTA ACCTCAGCACTCTGGAAGGCTGACATGAGGGACGCTGTGAAACAGATGAA GATTACCTGTGACCTCAGCACTCTGGGAGGCTGACATGAGGAACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0225 a0001c0006t0001g0225	1	310	0.0032	244	c.-60 others(263): Show c.-60+19908_-60+19909insTGTTCCTCATGTCAGCCTCCCAGAGT GCTGAGGTCACAGGTAATCTTCATCTGTTTCACAGCGTCCCTCATGTCAG CCTTCCAGAGTGCTGAGGTTACAGGTAATCTTCAGCTGTTTCACAGTGTC CCTCATGTCAGCCTTCCAGAGTGCTGAGGTCACAGGTAATCTTCACCTGT TTCACAGTGTCCCTCATGTCAGCCTCCCAGAGTGCTGAGGTCACAGGTAA TCTTCACCTGTTTCACAG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANO10_chr3_43360848_43627011	43550707	T T	TAAGAAAT others(237): Show TAAGAAATCTAAGACTTCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	224	0.0045	244	c.166 others(261): Show c.1669-860_1669-859insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG AAGTCTTAGATTTCTT	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	10/12			chr3	TogoVar
API5_chr11_43306996_43349529	43335390	C C	CAAAACTT others(237): Show CAAAACTTAATACGAGGGGTCGGGGGGAGGGGGGAGGGATAGCATTGGGA GATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTA AAACTTAGAATATAATAAAAAAAAAAAAAAGAAAGGAAAAAAAAAAATAA ATAAATAAATAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01255.hp2 others(5): Show HG00639.hp2 HG01106.hp2 HG01255.hp2 HG01981.hp2 HG02148.hp2 HG02300.hp2 HG02683.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0175 a0001c0001t0001g0176 others(5): Show a0001c0001t0001g0113 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186	8	384	0.0208	244	c.135 others(259): Show c.1355+51_1355+52insGGGTCGGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAATATAATAAAAAAAAAAAAAAGAAAGGAAAAAAAAAA ATAAATAAATAAATAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAACTTAATACGAG	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
API5_chr11_43306996_43349529	43335390	C C	CAAAACTT others(237): Show CAAAACTTAATACGAGGGGTCGGGGGGAGGGGGGAGGGATAGCATTGGGA GATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTA AAACTTAGAATATAATAAAAAAAAAAAAAAGAAAGGAAAAAAAAAAATAA ATAAATAAATAAAAAATAAAAAATAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG04228.hp2 NA20752.hp2 HG01515.hp2 HG04228.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0179 a0001c0001t0001g0201 a0001c0001t0001g0207	3	384	0.0078	244	c.135 others(259): Show c.1355+51_1355+52insGGGTCGGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAATATAATAAAAAAAAAAAAAAGAAAGGAAAAAAAAAA ATAAATAAATAAATAAAAAATAAAAAATAAAAAAAAAAAAAAAAAAAAAA AAACTTAATACGAG	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCGTGA others(237): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACA CTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	246	0.0041	244	c.-15 others(255): Show c.-1553_-1552insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTG CTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAG TGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGEF7_chr13_111110310_111310732	111221399	A A	ATATCTAT others(237): Show ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATAT AGATATATATGTCTATATATATCTATATAGATATATATAGACATATATAT CTATATAGATATATATAGACATATATATCTATATAGATATCTATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	274	0.0037	244	c.670 others(261): Show c.670+3520_670+3521insATCTATATAGATATATATGTCTATATAT ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATAGACATATATATCTATATAGATATATATAGACATATATATCT ATATAGATATCTATGT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ASB5_chr4_176208673_176274222	176218370	A A	AATATATA others(237): Show AATATATATTTGTATGACATATAAATATATATATTTGTATGACATATAAA TATATATATTTGTATGACATATAAATATATATGTATGATATATAAATATA TATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATA TATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATA TATTTGTATGATATATAAATATATATATTTGTATGATATATAAAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG03453.hp1 HG01433.hp1 HG02109.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0303 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0303	3	410	0.0073	244	c.671 others(261): Show c.671-1362_671-1361insATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATTTATATATCATACATATATATTTATATG TCATACAAATATATATATTTATATGTCATACAAATATATATATTTATATG TCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72198308	A A	AGGGGAGG others(237): Show AGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGA GGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGG GGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	216	0.0046	244	c.311 others(261): Show c.311-1320_311-1319insCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCATCTC CCCTCCCCTCCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCT CTTCCCTCCCCCTTCCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCAT CTCCTTCCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASMT_chrX_1610059_1648081	1624508	G G	GGCAGATG others(237): Show GGCAGATGCTGGGAGGTGGGGGCTGACCCCAGGCAGATGCTGGAGGTGGG GGCTGCACCCAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATG CTGGGAGGTGGTGCTGCACCCAGGCAGATGCTGGAGGTGGGGGCTGCCCC CAGGCAGATGCTGGGAGGTGGTGGCTGACCACAGGCAGATGCTGGGAGGT GGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGGCTGACCCCA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0093	1	223	0.0045	244	c.374 others(259): Show c.374+152_374+153insAGGTGGGGGCTGCACCCAGGCAGATGCTGG GAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTGCTGCACCCAG GCAGATGCTGGAGGTGGGGGCTGCCCCCAGGCAGATGCTGGGAGGTGGTG GCTGACCACAGGCAGATGCTGGGAGGTGGGGGCTGCCCCCAGGCAGATGC TGGGAGGTGGTGGCTGACCCCAGCAGATGCTGGGAGGTGGGGGCTGACCC CAGGCAGATGCTGG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10A_chr15_25673712_25868327	25757917	A A	ACTCATTC others(237): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	300	0.0033	244	c.655 others(263): Show c.655-21777_655-21776insGGTGGAGCAGGTGATCGGAATGAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGA GCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758292	C C	CCACCTGC others(237): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	300	0.0033	244	c.655 others(263): Show c.655-22152_655-22151insATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCA GGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGA GTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(237): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCCACCTCCC CCACCCCCCCACCCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCC ACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	254	0.0039	244	c.39+ others(261): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCC ACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(237): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	252	0.0040	244	c.251 others(263): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
B4GALNT4_chr11_364499_387117	374808	A A	AAGGGAGG others(237): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGAAGGGAGGGAGGAAGGGAG GGAGGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	184	0.0054	244	c.784 others(259): Show c.784-642_784-641insGAGGAGGAAGGGAGGGAGGAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGAAGGGAGGGAG GAAGGGAGGGAGGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(237): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	184	0.0054	244	c.784 others(259): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375125	A A	AAGGGAGG others(237): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAGGAAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0130 a0001c0003t0001g0130	1	184	0.0054	244	c.784 others(259): Show c.784-310_784-309insGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGAGGGAGGGAGGA GGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(237): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAAGGA GAGGGGGGAGGGGGATGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGA GGGGGAGGGGAGGGGGAGGGGAAGAGGGGGGAGGGGGAGGGGGAGAGGGG GAGGGGAGGGGGGAGAGGGGGGGAGGGGAGAGGGGGAGGGAGATGGACTG GGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	298	0.0034	244	c.51+ others(257): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCCAGTCCATCTCCCTCCCCCTCTCCCCTCCCCCCCTCT CCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCCTCTTCCCCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCCATC CCCCTCCCCCCTCTCCTTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCC CCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(237): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGAG GGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACT GGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18982.hp2 NA19009.hp2 NA18947.hp1 NA18982.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0122 a0001c0003t0008g0123 a0001c0003t0008g0124 a0001c0003t0008g0122 a0001c0003t0008g0123 a0001c0003t0008g0124	3	298	0.0101	244	c.51+ others(257): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCAT CCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCC CCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(237): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAGAG GGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACT GGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	298	0.0034	244	c.51+ others(257): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCATC CCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCC CCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCL11A_chr2_60452194_60558654	60467615	A A	ATGGTGCT others(237): Show ATGGTGCTGGTGGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTAGTGATAATGGTGGTGGTGGTGGTG ATGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGCTACT GGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGG TAATGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	262	0.0038	244	c.487 others(261): Show c.487+1116_487+1117insCCACCACCATCACTACCACCACCACCAC CACCACCACCACCATTACCACCACCATCACTACCACCACCACCATCACCA CCAGTACCATCACCACCAGTAGCATCACTACCACCACCACCATCACCACC AGTACCATCACCACCATCACCACCACCACCACCATTATCACTACCACCAC CACCACCACCACCACCATCACCACCACCATCACCATCACCACAAAGTACC ATGACCACCAGCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
C10orf90_chr10_126419997_126675693	126564899	T T	TATATATT others(237): Show TATATATTATATATAATATATAATATGTATTATATATAATATATATTATA TATTATATAAAATATATATTATATAAAATATATATTATATATAATATAAT ATATATTATATATAATATATATTATATATTATATAAAATATATATTATAT ATAATATATATTATATATTATATAATATATATTATATATAATATATAAAA TATATAATATATAATATATATTATATATAATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0174 a0003c0002t0002g0174	1	218	0.0046	244	c.314 others(263): Show c.314-50961_314-50960insTATATATTTTATATATTATATATAAT ATATATTATATATTATATATTTTATATATTATATATAATATATATTATAT AATATATAATATATATTATATATAATATATATTTTATATAATATATAATA TATATTATATATAATATATATTATATTATATATAATATATATTTTATATA ATATATATTTTATATAATATATAATATATATTATATATAATACATATTAT ATATTATATATAATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C7orf50_chr7_992006_1143247	1067707	A A	ACCCAGAG others(237): Show ACCCAGAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGCAGTGCAC CCCAGAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGGAGTGCACC CCAGAGGTGAGGGTTTGGGGCACAGTCTGTTGGTGGAGGCTGGAGTACAT CCAGAGGTGCGGGTTTGGGGCACAGTCTGTTGGAGGCTGGAATACACCCA GAGGTGAGGGTTTGGGGCACAGTCTTCACACAGGCTGGAGTGCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG02083.hp2 others(6): Show HG00438.hp1 HG00609.hp1 HG02083.hp2 HG02155.hp2 NA18952.hp1 NA18962.hp2 NA19064.hp1 NA19080.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0026 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067	9	326	0.0276	244	c.130 others(263): Show c.130-57565_130-57564insATGCACTCCAGCCTGTGTGAAGACTG TGCCCCAAACCCTCACCTCTGGGTGTATTCCAGCCTCCAACAGACTGTGC CCCAAACCCGCACCTCTGGATGTACTCCAGCCTCCACCAACAGACTGTGC CCCAAACCCTCACCTCTGGGGTGCACTCCAGCCTGTGTGAAGACTGTGCC CCAAACCCTCACCTCTGGGGTGCACTGCAGCCTGTGTGAAGACTGTGCCC CAAACCCTCACCTCTGGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1B_chr9_137872782_138129619	138126343	T T	TGGCCGCC others(237): Show TGGCCGCCAGAAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCC TGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAG CAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCTCAAGGCCAA GACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGG CGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0017 a0008c0019t0025 a0008c0019t0017 a0008c0019t0025	a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126 a0008c0019t0017g0124 a0008c0019t0017g0125 a0008c0019t0025g0126	3	248	0.0121	244	c.43 others(255): Show c.4344_*4345insGGCCGCCAGAAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCTCAAGGCCAAGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCG GCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTG CAGTGCCCCC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		1725		chr9	TogoVar
CACNA1I_chr22_39565753_39694735	39596170	G G	GGGGGGCA others(237): Show GGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGGGAG CAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGG GCGGAGAGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAG GGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAG ATGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp2 HG01106.hp1 others(6): Show HG00733.hp1 HG01071.hp2 HG01106.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG02451.hp2 HG02572.hp1 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0006c0015	a0001c0001t0002 a0001c0001t0038 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0001t0038 a0001c0002t0002 a0001c0002t0004 a0001c0009t0004 a0002c0003t0001 a0006c0015t0002	a0001c0001t0002g0162 a0001c0001t0038g0161 a0001c0002t0002g0179 others(6): Show a0001c0001t0002g0162 a0001c0001t0038g0161 a0001c0002t0002g0179 a0001c0002t0004g0190 a0001c0009t0004g0132 a0002c0003t0001g0159 a0002c0003t0001g0163 a0006c0015t0002g0188 a0006c0015t0002g0225	9	236	0.0381	244	c.237 others(261): Show c.237-1954_237-1953insCAGGGCGGAGAGAGATGGGGAGCAGGGC GGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAG AGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGAT GGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGG GCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGGGGCAGGGC GGAGGGAGATGGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(237): Show TATATACATATATATACACGTATATATATGTATATACATATATATACACG TATATATATGTATATACATATATATACACGTATATATATGTATATACATA TATACGTGTATATATATGTATATACATATATATACGTGTATATATATGTA TATACATATATATACACGTATATATATGTATATACATATATATACACGTA TATATATGTATATACATATATATACGTGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0073 a0001c0005t0009g0073	1	164	0.0061	244	c.125 others(263): Show c.125-88284_125-88283insGTATATACATATATATACACGTATAT ATATGTATATACATATATATACGTGTATATATATGTATATACATATATAT ACGTGTATATATATGTATATACATATATATACACGTATATATATGTATAT ACATATATATACACGTATATATGTATATACATATATATACGTGTATATAT ATGTATATACATATATATACGTGTATATATATGTATATACATATATATAC GTGTATATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(237): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	410	0.0024	244	c.-22 others(261): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCG TCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(237): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	410	0.0024	244	c.-22 others(261): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(237): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTC TCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	410	0.0024	244	c.-22 others(255): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCR9_chr3_45881543_45908174	45890306	T T	TATATATA others(237): Show TATATATATATTTATATAAATATATATAACATATATATATTTATATAAAT ATATATATAACATATATATATTTATATAAATATATATATGTTATATATAT ATTTATATAAATATATATATAACATATATATATTTATATAAATATATATA ACATATATATATTTATATAAATATATATATAACATATATATATTTATATA AATATATATATAACATATATATATTTATATAAATATATATATAAC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0064 a0001c0001t0013g0064	1	424	0.0024	244	c.-29 others(261): Show c.-29+3678_-29+3679insACATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATGTTATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATAACATAT ATATATTTATATAAATATATATATAACATATATATATTTATATAAATATA TATATAACATATATATATTTATATAAATATATATATAACATATATATATT TATATAAATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	442	0.0023	244	c.27 others(255): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar

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