Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
TRIML1_chr4_188134441_188152743	188152258	G G	GGGGGTGA others(612): Show GGGGGTGAGAAGGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAG GGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAG GAGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAG AGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGG GGGGTGAGAAGGGAAGTGAGAGTGGGGGGTTGAGAAGGGGGAGTGAGAGA GAGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTG GGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGG GGGTTGAGAAGGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGG GGGGTGAGAAGCGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGG TTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	228	0.0044	619	c.48 others(630): Show c.4886_*4887insGGGGTGAGAAGGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGAGGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGA AGGGGAGTGAGAGAGGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGA AGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGGAGTGAGAGAGGGGGGGTGAGAAGGGAAGTGAGAGTGGGGGGTTGAGA AGGGGGAGTGAGAGAGAGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGGGTGAGAAGGGGAGTGAGAGTGGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGGGGTTGAGAAGGGGGAGTGAGAGAGAGGGTGAGAA GGGGAGTGAGAGTGGGGGGTGAGAAGCGGAGTGAGAGTGGGGGGTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGGG GAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTC	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4516		chr4	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(612): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATACTATTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	174	0.0058	619	c.41- others(636): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT ACTATTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(612): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATAATATAT AATATATAATATATATTATATATAATATATAATATATAATATATATTATA TATAATAATATAATATATAATATACATTATATAATAATATAATGTATATT ATATAATAATAATGTAATATATAACATATATTATATAATAATAATATAAG ATATATTATATAATTAATATAATATATAATATATATTATATAATAATAAT ATAAGATATATTATATAATTAATATAATATATAATATATATTATATAATT AATATAATATATAATATATATTATATAATAATAATATAATATATATAATA ATTATATAATATAGTATATAATATATATTATATAATAATAATATAATATA TATAATAATTATATAATATTAGAATATATATTATACAATAATAATATAAT ATATATTATACAATAATAATATAATATATATATAATTATATAATATAATA TATATAATAATAATATAATATAATATATAATATATATTATATAGTAATAA TATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	218	0.0046	619	c.55+ others(634): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTACTAT ATAATATATATTATATATTATATTATATTATTATTATATATATTATATTA TATAATTATATATATATTATATTATTATTGTATAATATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTATTATTATATAATATATATTATATATTATATTAATTATATAA TATATATTATATATTATATTAATTATATAATATATCTTATATTATTATTA TATAATATATATTATATATTATATTAATTATATAATATATCTTATATTAT TATTATATAATATATGTTATATATTACATTATTATTATATAATATACATT ATATTATTATATAATGTATATTATATATTATATTATTATATATAATATAT ATTATATATTATATATTATATATAATATATATTATATATTATATATTATA TAATATATATTATATATTATATATTATATTATATAATTATTATATATTGC ATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WDR7_chr18_56646359_57034792	57024900	A A	ACTATGAT others(612): Show ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTC ACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTA TGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGAT ATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATT CTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAG GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATG ATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGA ACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGA CAGGAATAGGGATATGTGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	144	0.0069	619	c.427 others(638): Show c.4270-2083_4270-2082insCAGGATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATT TCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGT TATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTA TGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGG AATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTC CCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATAGGGATATGT GAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(612): Show CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC TTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCC CTTTCCCCCCTTTCCCCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	246	0.0041	619	c.-10 others(636): Show c.-10-3217_-10-3216insTCCCCCTTCCCCCCTTCCCCCTTCCCCC TTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCC TTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZFAND3_chr6_37814727_38159624	37910346	C C	CCTAAGTA others(612): Show CCTAAGTAATTGTTTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAG AGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCC ACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTT TACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATG AACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCA CATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAG TCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCT TTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGAT GGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACA CTGACTTCCACAATGGTTGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0051 a0001c0001t0016g0051	1	318	0.0031	619	c.72- others(636): Show c.72-19600_72-19599insTTTTTTTTTTTTTTTTTTTTTTATTATA CTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACA GTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTT CAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTG CGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAA AGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTAT ATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTG GTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGC ATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGT AATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAA TCGCCACACTGACTTCCACAATGGTTGACTAAGTAATTGTT	ZFAND3	ENSG00000156639.12	transcript	ENST00000287218.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
ZNF469_chr16_88377959_88445753	88401469	A A	AGATGGAT others(612): Show AGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGAGTGGAT GGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGATACAT GGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATGGATGG ATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGGAT GCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATGGGTGG ATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGATGGAT GGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTGCATGG ATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGATTGGAT GGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGGATGGA TGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGGATACA AGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGTGGATG GATGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0078 a0078	a0078c0163 a0078c0163	a0078c0163t0001 a0078c0163t0001	a0078c0163t0001g0055 a0078c0163t0001g0055	1	354	0.0028	619	c.-19 others(640): Show c.-192+18235_-192+18236insCTGGGGTGGGTGGATGGGTGAGTG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGAG TGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGA TACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATG GATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGA TGGATGCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATG GGTGGATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGA TGGATGGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTG CATGGATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGAT TGGATGGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGG ATGGATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGG ATACAAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF469_chr16_88377959_88445753	88401518	G G	GATGGATG others(612): Show GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGAG TGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGATGGA TACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGCGAGTGGATG GATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGA TGGATGCATGGGTGGATGGATGGATGCATGGGTGGATGGATGGATACATG GGTGGATGAATAGGTAGATGGATGGATAGATGGGTGAGTGGATGGGTGGA TGGATGGATGGATGGATACATGGGTGGATGGGTAGATGGATGGGTGAGTG CATGGATGGATGGATATATGGGTAGATGGATGGGTGGATGGATGGGTGAT TGGATGGATGGATGGGTAGATGGATGGATGCATGGGTGGATGGATAGTGG ATGGATGGATGGTAGATGCATGCATGGGTGGATGGATGGTGGCTGGATGG ATACAAGGGTGGATGAATAGGTAGATGGATAGATGGGTGAGTGGGTGAGT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGCTGGG GTGGGTGGATGGGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19030.hp1 HG02572.hp1 NA19030.hp1	a0070 a0104 a0070 a0104	a0070c0097 a0104c0096 a0070c0097 a0104c0096	a0070c0097t0039 a0104c0096t0004 a0070c0097t0039 a0104c0096t0004	a0070c0097t0039g0197 a0104c0096t0004g0196 a0070c0097t0039g0197 a0104c0096t0004g0196	2	354	0.0057	619	c.-19 others(640): Show c.-192+18276_-192+18277insTTGGATGGATGGATGGATGGATGG ATGGATGGATGAGTGGATGGATGGTGGATGGATGGGTGGATGGATGGATG GTGGATAGATGGATACATGGGTGGATGAATAGGTAGATGGATGGATAGAT GGGCGAGTGGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGA GTGAATGGATGGATGGATGCATGGGTGGATGGATGGATGCATGGGTGGAT GGATGGATACATGGGTGGATGAATAGGTAGATGGATGGATAGATGGGTGA GTGGATGGGTGGATGGATGGATGGATGGATACATGGGTGGATGGGTAGAT GGATGGGTGAGTGCATGGATGGATGGATATATGGGTAGATGGATGGGTGG ATGGATGGGTGATTGGATGGATGGATGGGTAGATGGATGGATGCATGGGT GGATGGATAGTGGATGGATGGATGGTAGATGCATGCATGGGTGGATGGAT GGTGGCTGGATGGATACAAGGGTGGATGAATAGGTAGATGGATAGATGGG TGAGTGGGTGAGTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGCTGGGGTGGGTGGATGGGTGAGTGAATGGATGGATGG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(612): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATACGTATATATACATATATACGTATATATACGTATATA TACATATATACATGTATATATATATACGTATATATACATATATACATGTA TATATATATACGTATATACACATATATATACATGTATATATATGTGTATA TATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA19072.hp2 NA18982.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	383	0.0052	619	c.-42 others(630): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATACGTATATATACATATATACGT ATATATACGTATATATACATATATACATGTATATATATATACGTATATAT ACATATATACATGTATATATATATACGTATATACACATATATATACATGT ATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(613): Show CCGGGTTTTAAGTTTTCTTTCTTTTTTTTTTTTTTTTTTTTGGTCAAAGT TGCCATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTC ACATGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTC ATTTGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTG CAGATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATA GGTAGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTT CGTGAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTG ATACAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGA ATCACAGTGTTATATTTATTTCCACATATTCTATATTAATAATATAATTT TTAATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATG CAGCTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAG CTTTTATATTTAGATTTAAATATTTCAGTTGCATTTCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTACTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18906.hp1 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0017 a0001c0002t0005 a0001c0002t0017	a0001c0002t0005g0211 a0001c0002t0017g0161 a0001c0002t0005g0211 a0001c0002t0017g0161	2	358	0.0056	620	c.122 others(637): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAA AAAAAAGAAATGCAACTGAAATATTTAAATCTAAATATAAAAGCTATTTT TAAATGGCTGAAATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATAC TTATAGCAGTTATTGAATGAAAACTTAAAATACATGGAATTAAAAATTAT ATTATTAATATAGAATATGTGGAAATAAATATAACACTGTGATTCACAGA ACTGGCTGTACTATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATT TCTTAGTCTGTAAGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTG GAGATAATGCTCTCCTCTGATCACACAGTTGTTACTTACTACCTATGTGA CCTTTGGTAAAGTATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATG GGAATAATCATGTATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTAT GCATTTATATTAATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGA AACATATGTATTTATTTTTAATGATAATAAACAATTAATGGCAACTTTGA CCAAAAAAAAAAAAAAAAAAAAGAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ATP10A_chr15_25673712_25868327	25758393	A A	ACTCATTC others(613): Show ACTCATTCCCACCACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	300	0.0033	620	c.655 others(639): Show c.655-22253_655-22252insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGGTGGGAATGAGTTAGGGTGGAGCAGGTGGTGGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758393	A A	ACTCATTC others(613): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	300	0.0033	620	c.655 others(639): Show c.655-22253_655-22252insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(613): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCAT CACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCCACCCTAACTCAT TCCTATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0287 a0003c0013t0002g0287	1	300	0.0033	620	c.654 others(639): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTGGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGG TGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAG TTAGGGTGGAGCAGGTGGTGGGAATGAGTTAGGGTGGAGCAGGTGATGGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758781	A A	ACTCATTC others(613): Show ACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19030.hp2 HG03225.hp2 NA19030.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0007c0015t0001 a0001c0001t0001 a0007c0015t0001	a0001c0001t0001g0192 a0007c0015t0001g0026 a0001c0001t0001g0192 a0007c0015t0001g0026	2	300	0.0067	620	c.654 others(639): Show c.654+22237_654+22238insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGG TGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79336104	C C	CGTGCCCT others(613): Show CGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTG TGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCC CAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0291 a0001c0006t0004g0291	1	298	0.0034	620	c.202 others(637): Show c.2029-524_2029-523insGTGCCCTCCCTGGCACCAGGCGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGC CCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTC GCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCA GGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCC TCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCA CCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCA CCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGC CCGTCCCCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGG CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(613): Show GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCCCC TCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCAC CAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGC CCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTG CACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAG CACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	298	0.0034	620	c.202 others(637): Show c.2029-442_2029-441insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(613): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	391	0.0026	620	c.36 others(631): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(613): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18964.hp1 NA18982.hp2 others(4): Show NA18956.hp1 NA18964.hp1 NA18982.hp2 NA19005.hp1 NA19065.hp2 NA19067.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0009 a0001c0001t0001g0001 a0001c0002t0001g0009	7	391	0.0179	620	c.36 others(631): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(613): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAG GAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAG GGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGG AGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0049 a0002c0003t0001g0049	1	300	0.0033	620	c.-70 others(629): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAG TGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGG AGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGG AAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGGTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	284	0.0035	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACCCCACCCCTCCCCCACCCCACCCCACCCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGAGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	284	0.0035	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACTCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGATGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 NA18522.hp1 HG02622.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0055 a0001c0001t0001g0112 a0001c0001t0001g0114	3	284	0.0106	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCATCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00558.hp1 others(35): Show HG00140.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01243.hp2 HG01346.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02080.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02895.hp2 HG02965.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18945.hp2 NA18950.hp1 NA18967.hp2 NA18970.hp1 NA19007.hp2 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0007c0014t0001	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0019 others(35): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0277 a0001c0001t0004g0074 a0001c0001t0012g0230 a0007c0014t0001g0247	38	284	0.1338	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(613): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGTGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGG GGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGG GGAAGGATGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGG GTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	284	0.0035	620	c.712 others(637): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCATCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACACACACCCTTCCCCCACCCC ACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAAC CCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCA CCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(613): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTG CCACGGCCTACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0077 a0006c0012t0001g0077	1	284	0.0035	620	c.411 others(637): Show c.4112+679_4112+680insGGACAGGAAGGTAGGCCGTGGCAGGTGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGA GGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(613): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATATATAGTTTATATATACTATATATAA ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATAGTAGTTATATAT ACTACTATATATACTACTATATATAGTATATACTATATATACACTATATA TAGCATATATACTATATATACGCTATATATAGTAGTTATATATACTATAT ATACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGT TATATATACTATATATACTATATATAGTAGTTATATATACTATATATAGT TTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0250 a0001c0002t0011g0250	1	396	0.0025	620	c.349 others(635): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACTATATATACACTATATATAGTAGTTATACATACACTATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATAGTAGTTATAT ATACTACTATATATACTACTATATATAGTATATACTATATATACACTATA TATAGCATATATACTATATATACGCTATATATAGTAGTTATATATACTAT ATATACACTATACATACACTATATATAGTTTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTAGTTATATATACTATATATA GTTTATATATATACTATATATAGTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(613): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACTATATATACACTATATATAGTAGTTATACATACACTATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATATATAGTTTATATATACTATATATAA ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATAGTAGTTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATAGTAGTTATATAT ACTACTATATATACTACTATATATAGTATATACTATATATACGCTATATA TAGCATATATACTATATATACGCTATATATAGTAGTTATATATACTATAT ATACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGT TATATATACTATATATACTATATATAGTAGTTATATATACTATATATAGT TTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0232 a0001c0002t0018g0232	1	396	0.0025	620	c.349 others(635): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACTATATATACACTATATATAGTAGTTATACATACACTATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT AGTTATATATACTATATATACACTATATATAGTTTATATATACTATATAT AAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAG TATATACTATATATACACTATATATAGTAGTTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATAGTAGTTATAT ATACTACTATATATACTACTATATATAGTATATACTATATATACGCTATA TATAGCATATATACTATATATACGCTATATATAGTAGTTATATATACTAT ATATACACTATACATACACTATATATAGTTTATATATACTATATATAGTA GTTATATATACTATATATACTATATATAGTAGTTATATATACTATATATA GTTTATATATATACTATATATAGTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(613): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCTCTCCCCCTC CCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	256	0.0039	620	c.-45 others(641): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCACTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTC CTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(613): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTATATATTTATATATAAATAT ATATAATTTTATATATTATATATAATTTTATATATTATATATAAATATAT ATATAATTTATATATAAATATATAAATTATATATAAATATATATAATTTA TATATAAATATATATAATTTATATATATAAATAGATATAATTTTATATAT TTATTTATATAAATTTTATATATTTATATAAATAAATATATATTTATATA TAAAAATTTATATACAAATATATATAAATATATACAAATATATATATAAA TTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0011 a0001c0010t0003g0011	1	116	0.0086	620	c.56- others(637): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TATATATTTATATATAAATATATATAATTTTATATATTATATATAATTTT ATATATTATATATAAATATATATATAATTTATATATAAATATATAAATTA TATATAAATATATATAATTTATATATAAATATATATAATTTATATATATA AATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTATAT AAATAAATATATATTTATATATAAAAATTTATATACAAATATATATAAAT ATATACAAATATATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL23A1_chr5_178232618_178595393	178585731	C C	CACAGCCC others(613): Show CACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCT GGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATG GCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAATGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCT GGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTAATG CCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATGGC GCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACA GCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGG TAATGCCCTACAGCACTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGG ATGGCGCTGGGGTAATGCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0112 a0002c0003t0002g0112	1	236	0.0042	620	c.294 others(637): Show c.294+4172_294+4173insAGGGCATTACCCCAGCGCCATCCAGGGC TGTAGGGCATTACCCCAGCGCCATCCAGTGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTAGGG CATTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGC CATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCA TTACCCCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG GGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCC AGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGTG GAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCA TCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CRLF2_chrX_1185490_1217649	1198126	G G	GGGAAGGC others(613): Show GGGAAGGCAGGACACCCTCCCTCCCACCTTGAAGGCAGGACACCCTCCCT CCCACCTTCCAGGAAGGCAGGACACCCTCCCTCCCACCTTCCAGGAAGGC AGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCA CCTTCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGA CACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTC CCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACC CTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAG GAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCC CACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACA CCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGA AGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCT CCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGA CACCCTCCCTCCCACCTCCCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG06807.hp2 HG02976.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0096 a0001c0002t0005g0052 a0001c0002t0002g0096 a0001c0002t0005g0052	2	167	0.0120	620	c.646 others(635): Show c.646+435_646+436insTGGGAGGTGGGAGGGAGGGTGTCCTGCCTT CGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGT GTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGG GAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCC TTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGG GTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGT GGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTG CCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGA GGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTT CCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGAAGGTGGGAGGGA GGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTG GAAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGAAGGTGGGAGGGAGGGT GTCCTGCCTTCAAGGTGGGAGGGAGGGTGTCCTGCCTTCC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15932745	G G	GAGAGGAA others(613): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGCAGAGAAATGAGTGAGTGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGTGGG CAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0021 a0001c0004t0002g0021	1	386	0.0026	620	c.198 others(637): Show c.198+1465_198+1466insGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTGCCCACTCACTCATTTCTCTGCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCACTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933272	A A	ATGAGTGA others(613): Show ATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0088 a0002c0001t0088	a0002c0001t0088g0181 a0002c0001t0088g0181	1	386	0.0026	620	c.198 others(635): Show c.198+938_198+939insCTCCTCTCCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933365	G G	GAGAGGAA others(613): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0093 a0002c0001t0093	a0002c0001t0093g0183 a0002c0001t0093g0183	1	386	0.0026	620	c.198 others(635): Show c.198+845_198+846insGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT CCTCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(613): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCC AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	345	0.0029	620	c.150 others(641): Show c.1503+10124_1503+10125insAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTGGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGA CGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGT GACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(613): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG03209.hp1 HG02818.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198	3	345	0.0087	620	c.150 others(640): Show c.1503+9505_1503+10124dupAGCCAGGACTCAGAGTGACCGAGTG TGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAG AGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGA GCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGT GTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCT CCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTG ACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAG TGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGC CAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGT GAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCC TCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGAC GCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTG ACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DIDO1_chr20_62872743_62931505	62875268	A A	ACCCCCAC others(613): Show ACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC GCACCCCCACCCCCACCCGCACCCCCCACCCCCACCCGCACCCGCACCCC CACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCA CCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC CCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCA CCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACC CGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCC CACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACC CGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCG CACCCCCACCCCCACCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	320	0.0031	620	c.39 others(631): Show c.3964_*3965insGTGGGGGTGGGGGTGGGGGTGCGGGTGAGGGTGG GGGTGAGGGTGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGG GTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGC GGGTGCGGGTGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGG GTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGT GGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGC GGGTGGGGGTGGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2474		chr20	TogoVar
DIP2C_chr10_269201_694668	323255	G G	GGCGAGAG others(613): Show GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGG GTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGG TGCGGGGCTCCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGT GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGG GGTGCGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGG GTGCGGGGGTGCGGGGCTCCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0044 a0001c0014t0001g0044	1	88	0.0114	620	c.392 others(639): Show c.3924+3750_3924+3751insTGGAGCCCCGCACCCCCGCACCCCCG ACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCA CCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCAC CCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACC CCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCC CCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCC CGACTGACTGTTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCCC GACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCG CACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGC ACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGA GCCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTCGCCGGAG CCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608556	C C	CCACACAC others(613): Show CCACACACACACACACCCCCCCCCACACACACACCCCCCCCACACACACG CCCCCCCCCACACACACATCCCCCCCCCCACACACACATCCCCCCCCACA CACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATC CCCCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACA CACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATC CCCCCCCACACACACACATCCCCCCCCCCACACACACATCCCCCCCCCCA CACACATCCCCCCCCCCACACACACATCCCCCCCCACACACACACATCCC CCCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCACACAC ACACATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCC CACACACACACATCCCCCCCACACACACACATCCCCCCCCACACACACAC ATCCCCCCCCACACACACACATCCCCCCCCACACACACATCCCCCCCCAC ACACACACATCCCCCCCCCCACACACACATCCCCCCCCCCCACACACACA TCCCCCCCCCCACACACACAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	88	0.0114	620	c.85+ others(637): Show c.85+80937_85+80938insATGTGTGTGTGGGGGGGGGGATGTGTGT GTGGGGGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGTGGGGG GGGATGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTG TGTGGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGA TGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTG GGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGT GTGTGTGTGGGGGGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGGGGGG GGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGG GGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGG GGGGATGTGTGTGTGGGGGGGGGGATGTGTGTGTGGGGGGGGGCGTGTGT GTGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(613): Show TAATTATATTATATATAATATATAATATATATAATATATAATATATAAAA TATATAATATATTATATATTATATATATTATATAAATATATAATATATTA TATATAATTATATAAATATATAATATATTACATATAATTATATATTATAT ATTATATATAATATATAATTATATGTAATATATTATATATATAATTATAT ATATATTATATATATAATATATTTTATATATTAAATTATATATAATATAT ATTATATATATAATTTATATATATAATATATATTATATATTATATAAATA TATATATTTTATATATATAAAATATATATTTTATAATATATAATATAGAA ATATATATTATATAATATATAATTATATATAATTATATATTATATAATAT ATATTTCTATATTATATATTTATAATGTATAATATATAAATATATTATAA ATATATATTATATACTATATAATGCATTATAAATATATTATATTTATATA TTATAAATATATTACATATTTATATATTATATATATAATATATATATTAT ATATTATAAATATATTTTATAAAATATAATATATATATTATTATTATATT TTATAAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0220 a0001c0001t0042g0220	1	220	0.0046	620	c.551 others(639): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATAATAATATATATATTATATTTTATAAAATATATTTATAATATATAAT ATATATATTATATATATAATATATAAATATGTAATATATTTATAATATAT AAATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATA ATATATTTATATATTATACATTATAAATATATAATATAGAAATATATATT ATATAATATATAATTATATATAATTATATATTATATAATATATATTTCTA TATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTT ATATAATATATAATATATATTATATATATAAATTATATATATAATATATA TTATATATAATTTAATATATAAAATATATTATATATATAATATATATATA ATTATATATATAATATATTACATATAATTATATATTATATATAATATATA ATATATAATTATATGTAATATATTATATATTTATATAATTATATATAATA TATTATATATTTATATAATATATATAATATATAATATATTATATATTTTA TATATTATATATTATATATATTATATATTATATATAATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(613): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGATGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGG GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0212 a0001c0001t0012g0212	1	248	0.0040	620	c.62- others(637): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGATGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGAT GAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCA GGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGA GGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(613): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGG GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(46): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00642.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01978.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02647.hp2 HG02735.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp1 NA18906.hp2 NA18951.hp1 NA18983.hp1 NA19065.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0030 a0001c0001t0043 a0001c0001t0045 a0001c0001t0049 a0001c0001t0051 a0001c0001t0055 a0001c0002t0001 a0001c0002t0005 a0001c0002t0011 a0001c0002t0017 a0001c0002t0035 a0001c0005t0001 a0001c0006t0022	a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0103 others(46): Show a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0002g0033 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0136 a0001c0001t0002g0152 a0001c0001t0002g0169 a0001c0001t0003g0094 a0001c0001t0003g0194 a0001c0001t0004g0109 a0001c0001t0004g0168 a0001c0001t0005g0035 a0001c0001t0007g0055 a0001c0001t0012g0037 a0001c0001t0015g0084 a0001c0001t0015g0112 a0001c0001t0016g0012 a0001c0001t0016g0069 a0001c0001t0027g0229 a0001c0001t0030g0111 a0001c0001t0043g0115 a0001c0001t0045g0187 a0001c0001t0049g0228 a0001c0001t0051g0135 a0001c0001t0055g0108 a0001c0002t0001g0014 a0001c0002t0001g0073 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0125 a0001c0002t0001g0182 a0001c0002t0005g0036 a0001c0002t0011g0095 a0001c0002t0011g0138 a0001c0002t0017g0096 a0001c0002t0035g0056 a0001c0005t0001g0091 a0001c0006t0022g0105	49	248	0.1976	620	c.62- others(637): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGAT GAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCA GGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGA GGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(613): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGG GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGTGCAGGG GAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0008g0065 a0001c0001t0008g0066	2	248	0.0081	620	c.62- others(637): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGAT GAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCA GGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGA GGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGT GAGGTGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EVC2_chr4_5557439_5713559	5706337	G G	GATAGATA others(613): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18988.hp1 NA18990.hp1 NA18952.hp2 NA18988.hp1 NA18990.hp1	a0003 a0005 a0003 a0005	a0003c0006 a0005c0008 a0005c0009 a0003c0006 a0005c0008 a0005c0009	a0003c0006t0002 a0005c0008t0001 a0005c0009t0002 a0003c0006t0002 a0005c0008t0001 a0005c0009t0002	a0003c0006t0002g0270 a0005c0008t0001g0288 a0005c0009t0002g0256 a0003c0006t0002g0270 a0005c0008t0001g0288 a0005c0009t0002g0256	3	292	0.0103	620	c.228 others(637): Show c.228+1948_228+1949insGTATCTATCTATGTATGTATGTATGTAT GTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTATGT ATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCT ATGTATCTATCTGTGTATGTATCTATCTATCTATGTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTATCT ATCTATGTATGTATGTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATGTATCTATCTATGTATGTATCTATCT ATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATCTAT GTATCTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGT ATCTATCTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTAT CTATCTATCTATCTATCTATGTATCTATGTATCTATCTAGCTATCTATCT ATGTATGTATCTATGTATCTATCTATCTATCTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5706337	G G	GATAGATA others(613): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATACATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19010.hp2 NA18950.hp2 NA19010.hp2	a0003 a0005 a0003 a0005	a0003c0019 a0005c0008 a0003c0019 a0005c0008	a0003c0019t0001 a0005c0008t0001 a0003c0019t0001 a0005c0008t0001	a0003c0019t0001g0280 a0005c0008t0001g0281 a0003c0019t0001g0280 a0005c0008t0001g0281	2	292	0.0069	620	c.228 others(637): Show c.228+1948_228+1949insGTATCTATCTATGTATGTATGTATGTAT GTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTATGT ATCTATCTATCTATCTATGTATCTATCTATGTATGTATCTATCTATCTAT CTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTATCT ATGTATCTATCTGTGTATGTATCTATCTATCTATGTATCTATCTATCTAT CTATGTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTATCT ATCTATGTATGTATGTATCTATCTATGTATCTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATGTATCTATCTATGTATGTATCTATCT ATCTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATGTAT CTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCT ATCTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTAT CTATCTATCTATCTATCTATGTATCTATGTATCTATCTAGCTATCTATCT ATGTATGTATCTATGTATCTATCTATCTATCTATCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706337	G G	GATAGATA others(613): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18990.hp2 NA18952.hp2 NA18990.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0015 a0002c0005 a0003c0015	a0002c0005t0001 a0003c0015t0002 a0002c0005t0001 a0003c0015t0002	a0002c0005t0001g0019 a0003c0015t0002g0018 a0002c0005t0001g0019 a0003c0015t0002g0018	2	369	0.0054	620	c.-50 others(631): Show c.-5044_-5043insATAGATAGATAGATAGATAGATAGATACATAGAT ACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAG ATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAG ATAGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATAGAT ACATAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATAC ATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATACAT ACATAGATAGATACATAGACAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGAT AGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGAT AGATAGATACATACATACATAGATAGATAGATAGATACATAGATAGATAG ATACATACATACATACATACATACATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4863		chr4	TogoVar
EVC_chr4_5706201_5819305	5706337	G G	GATAGATA others(613): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATACATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0003 a0008c0013t0003	a0008c0013t0003g0050 a0008c0013t0003g0050	1	369	0.0027	620	c.-50 others(631): Show c.-5044_-5043insATAGATAGATAGATAGATAGATAGATACATAGAT ACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT ACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGAT ACATAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATAC ATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATACAT ACATAGATAGATACATAGACAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGAT AGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATAGATAGATACATACATAGATAGATACATAGATAGAT AGATAGATACATACATACATAGATAGATAGATAGATACATAGATAGATAG ATACATACATACATACATACATACATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4863		chr4	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(613): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG02145.hp1 HG02647.hp1	a0007 a0017 a0007 a0017	a0007c0013 a0017c0037 a0007c0013 a0017c0037	a0007c0013t0002 a0017c0037t0004 a0007c0013t0002 a0017c0037t0004	a0007c0013t0002g0041 a0017c0037t0004g0046 a0007c0013t0002g0041 a0017c0037t0004g0046	2	306	0.0065	620	c.953 others(635): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGG GTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTA GATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(613): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0016 a0016	a0016c0035 a0016c0035	a0016c0035t0004 a0016c0035t0004	a0016c0035t0004g0069 a0016c0035t0004g0069	1	306	0.0033	620	c.953 others(635): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGG GTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTA GATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(613): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0285 a0007c0013t0002g0285	1	306	0.0033	620	c.953 others(635): Show c.953-287_953-286insTTTTTTTTTTTTTTTATTTATTTATTTATT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACG TGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCC CGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATG TGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGG TTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATC CATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTA TTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTG GACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATA AACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGG GTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTA GATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar

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Search Results (Total: 10000 hits)