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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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
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(699): Show CCCCCACTCTCCTCATTCTACCCCCCACAAGCATTGCTCCAACCCTCCCC CACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCA CTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTC TCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCC TCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCA TTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTAC CCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCC CCAACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCC ACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACA AGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAAGCAT CACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCT CCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATAGCTC CAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACTGCTC CAACCCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0032 a0003c0001t0001g0032	1	280	0.0036	706	c.89- others(719): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTTGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTT GGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAG CAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCT ATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT GTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTG GGGGGTAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3976675	C C	CCACGCAG others(699): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0030 a0030	a0030c0073 a0030c0073	a0030c0073t0001 a0030c0073t0001	a0030c0073t0001g0015 a0030c0073t0001g0015	1	116	0.0086	706	c.199 others(725): Show c.1994+2130_1994+2131insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(699): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTTGTGAT TGTGATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGA AGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTG ATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATG GTGGTGATGGTGGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGG TGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGAT GGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGA TGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAA GGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTG GTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTG ATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTGGTGGTGGTG ATGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	150	0.0067	706	c.914 others(723): Show c.914-2395_914-2394insAAGGGGGTGATGGTGGTGATTGTGATGG TTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGCGATGGTGGTGATGGTGGTGATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGG GTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTA ATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTG GTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGT GATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTGGT GGTGGTGATGGTGATGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(699): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTTGTGAT TGTGATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGA AGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTG ATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGCGATG GTGGTGATGGTGGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGAT GGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGG TGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATG GTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGAT GGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGA TGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAA GGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTG GTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTG ATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTGGTGGTGGTG ATGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0074 a0001c0001t0053g0074	1	158	0.0063	706	c.860 others(723): Show c.860-2395_860-2394insAAGGGGGTGATGGTGGTGATTGTGATGG TTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGTGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGCGATGGTGGTGATGGTGGTGATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGGTGATGGTGATGGTGGTGATTGTGGTGGTGGTGATGTGG GTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTA ATATGGGTGATGGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTG GTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGT GATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTGGT GGTGGTGATGGTGATGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(699): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATAAAATATATATG TTTTATATGTATATATACATATAAAATATATATACATATGTTTTATATGT ATATATATACATATAAAACATATATACATATGTTTTATATGTGTATATAT ACATAGAAAATATATATAATATATATACATATGTTTTATATGTATATATA TACATAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	300	0.0033	706	c.626 others(723): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATATGTTTT ATATGTATATATACATATAAAATATATATACATATGTTTTATATGTATAT ATATACATATAAAACATATATACATATGTTTTATATGTGTATATATACAT AGAAAATATATATAATATATATACATATGTTTTATATGTATATATATACA TAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A7_chr5_1045384_1117063	1072941	G G	GAGCCCCC others(699): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACT TATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGT GAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACG GGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0079 a0001c0006t0011g0078 a0001c0006t0011g0079	2	118	0.0170	706	c.224 others(723): Show c.2241+691_2241+692insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGG GGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATA AGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGC ATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGT GCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGG CTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGG GGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGC TCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGG GCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTG GGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC35F3_chr1_233899676_234329511	234064779	C C	CTAGGGCC others(699): Show CTAGGGCCATAAATTTTTTTTTTTTTTTTTTTTTTAATTAAATAATCATC AAATATTTATTAACTATTACTCTGTGTAGAGTAATCCTTTATGCCTTTAT TTTTTTTTATTTTATTTATTTATTTTTTTTTTTTTTAAATTTATTTTTTT ATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATA GGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTC TGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCC TGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCC TTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTT AACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTA AGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAG AACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCA ACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCG CAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACA CCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	158	0.0063	706	c.283 others(727): Show c.283+159035_283+159036insTTTTTTTTTTTTTTTTTTTTAATT AAATAATCATCAAATATTTATTAACTATTACTCTGTGTAGAGTAATCCTT TATGCCTTTATTTTTTTTTATTTTATTTATTTATTTTTTTTTTTTTTAAA TTTATTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTG GCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGA ACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGT GTTTGTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACG AGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCC TTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAG GGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGGAATTTT TCTTAGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACA CAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCGCC TTTCTATTCCGCAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGC TGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGTAGGGCCATAAATT	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280137	T T	TATATATA others(699): Show TATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATAT ATAATATATATAGTATATATTATATATTGTATATAATATATATAGTATAT ATTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAT TATATATTGTATATATAATATATATATTGTATATATTATATATTGTATAT ATAATATATATATTGTATATATTATATATTGTATATATAATATATATATT GTATATATTATATATTGTATATATAATATATATATTGTATATATTATATA TTGTATATATAATATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATATTGTATATATTATATATTGTATATATAA TATATATATTGTATATATTATATATTGTATATATAATATATATATTGTAT ATATTATATATTGTATATATAATATATATATTGTATATATTATATATTGT ATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0116 a0001c0004t0001g0116	1	156	0.0064	706	c.176 others(723): Show c.176-5096_176-5095insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATATATTATATATACAATATATAATATATACAATATATATATTATA TATACAATATATAATATATACAATATATATATTATATATACAATATATAA TATATACAATATATATATTATATATACAATATATAATATATACAATATAT ATATTATATATACAATATATAATATATACAATATATATATTATATATACA ATATATAATATATACAATATATATATTATATATACAATATATAATATATA CAATATATATATTATATATACAATATATAATATATACAATATATAATATA TACTATATATATTATATACAATATATAATATATACTATATATATTATATA CAATATATAATATATACTATATATATTATATATACAATATAAAATATATA TAATATATATTAGATATACAATATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46170550	T T	TGGAGGAG others(699): Show TGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCT CCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTG AGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACATCCTCTG TGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGAG GAGCCCCCTACTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGC TCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACAT CCTCTGTGGATGGGGAGGAGCTTCCCTGCTCTGTGAACATCCTCTGTGGA TGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGC CTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTG TGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTC TGTGGATGGGGAGGAGCCCCCTACTCTGTGAACATCCTCTGTGGATGGGG AGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCC TGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGA ACATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAACATCCTCTG TGGATAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0168 a0003c0004t0007g0169 a0003c0004t0007g0168 a0003c0004t0007g0169	2	251	0.0080	706	c.194 others(723): Show c.194-1893_194-1892insCTATCCACAGAGGATGTTCACAGAGCAG GGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGGAGGCTCCT CCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCAC AGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGTTC ACAGAGTAGGGGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGA GGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGGGGCTCCTCCCC ATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGG ATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGTTCACAGA GCAGGGAAGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGAGGCT CCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCC ACAGAGGATGTTCACAGAGTAGGGGGCTCCTCCCCATCCACAGAGGATGT TCACAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAG GAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCC CCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGA GGATGTTCACAGAGCAGGGGGCTCCTCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(699): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCCCACCATCTCCCATCCTATC CACCCCCCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCACCAT CTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCC ACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATC CACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACT ATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACC ATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCA CCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCC ATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCC ATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACAC TGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCC ATCCACC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0033 a0001c0001t0032g0033	1	258	0.0039	706	c.113 others(725): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCC CCCACCATCTCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCA CCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCCT ATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCT ATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCAT CCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACC CGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATAT CCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACC GTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCACC CACCCACCTATCCTATTCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TARDBP_chr1_11007654_11030492	11011336	A A	AAGGGAGG others(699): Show AAGGGAGGGAAGGGAGGAAAGGAAGGGAAGGAAAGGAAAGAAAGGAAAGA AAAGATAGAAAAGAAAGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTA ACACGGTGAAACCCCGTCTCTATTAAAAACACAAAAAAATTAGCCGGGCG TGGTGGCGGGCGCCTGTGGTCCCAGCTACTCAGTAGGCTGAGGCAGGAGA ATAGAGTGAACCTGGGAGGCGGAGCGTGCAGTGAGCCGAGATAGCGCCAC TGCAGTCCAGCCTGGGCAAAAGAGCGAGACTCCATCTCAAAAAAAAGAAA AAAGAAAAAAAAAAGAAATGTGAAACAAAGGCCGGGCGTGGTGGCACTTT GGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCC TGGCCAACAGGGGTTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCAT GCCTGTAGACCCAACTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CGGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCACC TTAGGCAACAGAGGGAGTCTGAAAAAAAGGAAGAGAAAAGAAAGAGAGAG AGAGAGAAAGAGAGAGAGGTAGGGAGGAAGGAAGGTGGGAAGGGAGGGAA GGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA18906.hp2 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	360	0.0056	706	c.-14 others(717): Show c.-1420_-1419insAGGGAGGGAAGGGAGGAAAGGAAGGGAAGGAAAG GAAAGAAAGGAAAGAAAAGATAGAAAAGAAAGGTGGCTCGTGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAACACAAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTCAGTA GGCTGAGGCAGGAGAATAGAGTGAACCTGGGAGGCGGAGCGTGCAGTGAG CCGAGATAGCGCCACTGCAGTCCAGCCTGGGCAAAAGAGCGAGACTCCAT CTCAAAAAAAAGAAAAAAGAAAAAAAAAAGAAATGTGAAACAAAGGCCGG GCGTGGTGGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCAGG AGTTTGAGACCAGCCTGGCCAACAGGGGTTAAAAATACAAAAATTAGCCG GGCATGGTGGTGCATGCCTGTAGACCCAACTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCGGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTG CCACTGCACTCCACCTTAGGCAACAGAGGGAGTCTGAAAAAAAGGAAGAG AAAAGAAAGAGAGAGAGAGAGAAAGAGAGAGAGGTAGGGAGGAAGGAAGG TGGGAAGGGAGGGAAGGGGGGG	TARDBP	ENSG00000120948.19	transcript	ENST00000240185.8	protein_coding		1317		chr1	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(699): Show CTATTATATATATAATATACCTATTATATATATAATATACCTATTATATA TATAATATACCTATTATATATATAATATACCTATTATATATAATATACCT ATTATATATAAAATATACCTATTATATATAATATACCTATTATATACATT ATATATAATATACCTATTATATGCATTATATATAATATACCTATTATATG CATTATATATAATATACCTATTATATGCATTATATATAATATACCTATTA TATGCATTATATATAATATACCTATTATATGCATTATATATAATATACCT ATTATATGCATTATATAATATATTATATATAATATGCATATTATATGTAT TATATATTATATATTATATATATAATATACATATTATATGTATTATATAT AATATATTATATATATAATATACATATTATATGTATTATATATTATATAT AATATACATATTATATATTATATATTATATACATATTATATATTATATAT TATATACATATTATATATTATATATTATATACATATTATATATTATATAC ATATTATATATTATATATTATATACATATTATACATTATATATATCTAAA ATATATAATACACATTATATATTATATAATACACATTATATATTATATAT AATACACATTATATATTATATATAATACACATTATATATTATATAATACA CATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG03098.hp1 HG00642.hp2 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0281 a0001c0004t0004g0282 a0001c0004t0004g0281 a0001c0004t0004g0282	2	360	0.0056	706	c.62 others(717): Show c.6215_*6216insTATAATGTGTATTATATAATATATAATGTGTATT ATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATAT AATATATAATGTGTATTATATATTTTAGATATATATAATGTATAATATGT ATATAATATATAATATATAATATGTATATAATATATAATATGTATATAAT ATATAATATATAATATGTATATAATATATAATATATAATATGTATATAAT ATATAATATATAATATGTATATTATATATAATATATAATACATATAATAT GTATATTATATATATAATATATTATATATAATACATATAATATGTATATT ATATATATAATATATAATATATAATACATATAATATGCATATTATATATA ATATATTATATAATGCATATAATAGGTATATTATATATAATGCATATAAT AGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCATA TAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATG CATATAATAGGTATATTATATATAATGTATATAATAGGTATATTATATAT AATAGGTATATTTTATATATAATAGGTATATTATATATAATAGGTATATT ATATATATAATAGGTATATTATATATATAATAGGTATATTATATATATAA TAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(699): Show CTATTATATATATAATATACCTATTATATATATAATATACCTATTATATA TATAATATACCTATTATATATATAATATACCTATTATATATAATATACCT ATTATATATAAAATATACCTATTATATATAATATACCTATTATATGCATT ATATATAATATACCTATTATATGCATTATATATAATATACCTATTATATG CATTATATATAATATACCTATTATATGCATTATATATAATATACCTATTA TATGCATTATATATAATATACCTATTATATGCATTATATATAATATACCT ATTATATGCATTATATAATATATTATATATAATATGCATATTATATGTAT TATATATTATATATTATATATATAATATACATATTATATGTATTATATAT AATATATTATATATATAATATACATATTATATGTATTATATATTATATAT AATATACATATTATATATTATATATTATATACATATTATATATTATATAT TATATACATATTATATATTATATATTATATACATATTATATATTATATAC ATATTATATATTATATATTATATACATATTATACATTATATATATCTAAA ATATATAATACACATTATATATTATATAATACACATTATATATTATATAT AATACACATTATATATTATATATAATACACATTATATATTATATAATACA CATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03579.hp1 HG02622.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0132 a0001c0004t0004g0189 a0001c0004t0004g0132 a0001c0004t0004g0189	2	360	0.0056	706	c.62 others(717): Show c.6215_*6216insTATAATGTGTATTATATAATATATAATGTGTATT ATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATAT AATATATAATGTGTATTATATATTTTAGATATATATAATGTATAATATGT ATATAATATATAATATATAATATGTATATAATATATAATATGTATATAAT ATATAATATATAATATGTATATAATATATAATATATAATATGTATATAAT ATATAATATATAATATGTATATTATATATAATATATAATACATATAATAT GTATATTATATATATAATATATTATATATAATACATATAATATGTATATT ATATATATAATATATAATATATAATACATATAATATGCATATTATATATA ATATATTATATAATGCATATAATAGGTATATTATATATAATGCATATAAT AGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCATA TAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATG CATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATAT AATAGGTATATTTTATATATAATAGGTATATTATATATAATAGGTATATT ATATATATAATAGGTATATTATATATATAATAGGTATATTATATATATAA TAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAATAT others(699): Show TATAATATACCTATTATATACATTATATATAATATACCTATTATATGCAT TATATATAATATACCTATTATATGCATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATAATATATTATATATAATATGCATATTATATGTATTAT ATATTATATATTATATATATAATATACATATTATATGTATTATATATTAT ATATTATATATATAATATACATATTATATGTATTATATATTATATATTAT ATATATAATATACATATTATATATTATATATTATATACATATTATATATT ATATATTATATACATATTATATATTATATACATATTATATATTATATATT ATATACATATTATACATTATATATATCTAAAATATATAATACACATTATA TATTATATAATACACATTATATATAATATATAATACACATTATATATTAT ATATAATACACATTATATATTATATAATACACATTATATATTATATATAA TACACATTATATATTATATATAATACACATTATATATTATATATAATACA CATTATATATTATATATAATACACATTATATATTATATAATACACATTAT ATATTATATATAATACACATTATATATATAATACACATTATATATTATAT ATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	360	0.0028	706	c.62 others(717): Show c.6207_*6208insGTATTATATATAATATATAATGTGTATTATATAT ATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATAATG TGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTA TTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTAT ATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATATTA TATATAATGTGTATTATATAATATATAATGTGTATTATATATTTTAGATA TATATAATGTATAATATGTATATAATATATAATATATAATATGTATATAA TATATAATATGTATATAATATATAATATATAATATGTATATAATATATAA TATATAATATGTATATTATATATATAATATATAATATATAATACATATAA TATGTATATTATATATATAATATATAATATATAATACATATAATATGTAT ATTATATATATAATATATAATATATAATACATATAATATGCATATTATAT ATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCATAT AATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGC ATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATA ATGTATATAATAGGTATATTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3373		chr20	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(699): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTGTCT CTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTGTC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	256	0.0039	706	c.924 others(723): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACA GAGAGAGACAGAGAGAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGA GAAAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGA GAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(699): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACAACACCACACACCACACACACACCACCACACACCACCACACA CCACACACACCACCACACACACACCACCACACACACACCACACACCACAC ACACATACACCACCACACACCACCACACACACCACACACACAACACACAC CACCACACACACCACCACACACACACCACACACCATACACACACTACCAC ACACCACCACACACCACCACACACACACCACACACACAGCACCACACACA CACCACCACACACAACACACACCACACACACCACCACACACATACCACCA CACACACCACCACACACATACACACCACACCACCACCACATACATACACA CCACACACCACCACACACATACACACCACACACCACCACACACATACACA CCACACACACTACCACCGCATACATACACACCACACACGCCACCACATAC ATACCACACACACATACACACCACCCACACACCACCACACACACCACCAC CACACACATACACACCACACACACCACCACACACACACCACCACATACAT ACACACCACACACATACCACCACACACACACCATCACGCACACCACCACA TACACACACCACAGACATACCACCACACACATACCATCACACACCACTAC GCACACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0030 a0030	a0030c0100 a0030c0100	a0030c0100t0064 a0030c0100t0064	a0030c0100t0064g0114 a0030c0100t0064g0114	1	244	0.0041	706	c.537 others(723): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGTGTATGTGTGTGGTGGTGGTGTGTGTGGTGGTG TGTGGGTGGTGTGTATGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGT GTGTATGTATGCGGTGGTAGTGTGTGTGGTGTGTATGTGTGTGGTGGTGT GTGGTGTGTATGTGTGTGGTGGTGTGTGGTGTGTATGTATGTGGTGGTGG TGTGGTGTGTATGTGTGTGGTGGTGTGTGTGGTGGTATGTGTGTGGTGGT GTGTGTGGTGTGTGTTGTGTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGT GGTGTGTGTGTGGTGGTGTGTGGTGGTGTGTGGTAGTGTGTGTATGGTGT GTGGTGTGTGTGTGGTGGTGTGTGTGGTGGTGTGTGTTGTGTGTGTGGTG TGTGTGGTGGTGTGTGGTGGTGTATGTGTGTGTGGTGTGTGGTGTGTGTG TGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGGTGGT GTGTGTGTGGTGTGTGGTGTTGTGTGTGTGGTGGTGTGTGTGGTGGTGTG TGTGTGGTGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(699): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAATG TATAATGTATATATACATTATACATACGTAAATGTATAATGTATAATGTA TATATACATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATG TATATATACATTATACATACGTAAATGTATAATGTATATATACATTATAC ATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAT ATATACATTATACATACGTAAATGTATATATATACATTATACATACGTAA ATGTATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19087.hp1 HG00544.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	388	0.0052	706	c.-23 others(723): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATGTATATATACATTATACATTATACATTT ACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATACA TGTATATATACATTATACATTTACGTATGTATAATACATGTATATATACA TTATACATTTACGTATGTATAATACATGTATATATACATATATACATTTA CGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATAA TACATGTATATATACATATATACATTTACGTATGTATAATACATGTATAT ATACATATATACATTTACGTATGTATAATACATGTATATATACATATATA CATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT GTATAATACATGTATATATACATATATACATTTACGTATGTATAATACAT GTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870460	A A	ACACCCCA others(699): Show ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACACCACACACACCACACACCACA CACACACCACACACCCCACACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCATACACACCACACACCCCA CACACACCACACACCCCACACACCCCACACACCATACACACCACACACCA TACACACCACACACCCCACACACACCACACCCCATACACACCACACACCC CACACACACCACACACACCACACACCCCACACACCATACACACCACACCC CACACACACCACACACCCCACACACACCACACCCCATACACACCACACCC CACACACACCACACCCCACACACACCACACCCCACACACCCCACACACAC CACACACCCCACACACCATACACACCACACCCCACACACACCACACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCA TACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	338	0.0030	706	c.35 others(725): Show c.35+21730_*35+21731insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACAC CACACACACCACACACCACACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACACCCCACACACACCACACACCCCACACACCCCACAC ACCATACACACCACACACCATACACACCACACACCCCACACACACCACAC CCCATACACACCACACACCCCACACACACCACACACACCACACACCCCAC ACACCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACAC CCCACACACCCCACACACACCACACACCCCACACACCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACCCCATACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(699): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTATATATTTAGTTTATAAGTACATATTTATA TATTTAGTTTATAAGTACATATTTATATATTTAATTTATAAGTATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAA TTTATAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0198 a0001c0001t0018g0198	1	250	0.0040	706	c.82+ others(721): Show c.82+5617_82+5618insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATA TATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATA AGTACATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAATT TATAAGTATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATAT ATTTATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(699): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTATATATTTAGTTTATAAGTACATATTTATA TATTTAGTTTATAAGTACATATTTATATATTTAATTTATAAGTATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAA TTTATAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0209 a0001c0001t0031g0209	1	250	0.0040	706	c.82+ others(721): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATA TATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATA AGTACATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAATT TATAAGTATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATAT ATTTATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCTCC others(699): Show CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCC TCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCC TCCTCCT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	274	0.0037	706	c.200 others(723): Show c.2004+708_2004+709insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCCCCCTCCTCCTCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VSIG1_chrX_108040065_108084184	108040899	C C	CAGAAAAA others(699): Show CAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTCCATGTGAGCCTGG GAAAGGGATTACATGTGTGAGTGAATGAATGGGACTTTTTTTCCTCTGTA TCCTTGTTTGTCCTTTGAAAACCATTTACTATCAAAATGTATTACTTTTG TAATTTTTAAGTTAAAAATGAGGGATAAATCAGATATCACATATTTCTGA AAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCATATTTGTTACATTACA ATCACACCGTGCCATTGTGTGGTGTGATAGGAACAGCTTCTAATGCGTGC TATGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCCTCAGTTTTCTTAT ATAGAAAATGTAGGTATACCTGACTTATTTGTTGTATTGGAAAGCTACAT GTTCATTGAACCATTGTCAATAATATTGAAAAACTGGAAACCATCTAAGA ATTTACCAATAAGAGAATGATTAAATAAATTGAGGTACATTCATATCATG AAATACCATGCAGCCTTAACATGGACAAGGTTGATCTATAGATGCAGTTG GACCCAGTGACAGAAAGAGAGAATAAAAATACCTTTTTTAAGGGAGAAAA GCAAATTATAGAACAAAATGTACAGTATTATCATCTTTATGTTTTAAAAA ACCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCATGTGTA CATGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	281	0.0036	706	c.-42 others(717): Show c.-4232_-4231insAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGT TCCATGTGAGCCTGGGAAAGGGATTACATGTGTGAGTGAATGAATGGGAC TTTTTTTCCTCTGTATCCTTGTTTGTCCTTTGAAAACCATTTACTATCAA AATGTATTACTTTTGTAATTTTTAAGTTAAAAATGAGGGATAAATCAGAT ATCACATATTTCTGAAAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCAT ATTTGTTACATTACAATCACACCGTGCCATTGTGTGGTGTGATAGGAACA GCTTCTAATGCGTGCTATGGTGACCTTGGGAAAAGCACAGCACTTTTGAG CCTCAGTTTTCTTATATAGAAAATGTAGGTATACCTGACTTATTTGTTGT ATTGGAAAGCTACATGTTCATTGAACCATTGTCAATAATATTGAAAAACT GGAAACCATCTAAGAATTTACCAATAAGAGAATGATTAAATAAATTGAGG TACATTCATATCATGAAATACCATGCAGCCTTAACATGGACAAGGTTGAT CTATAGATGCAGTTGGACCCAGTGACAGAAAGAGAGAATAAAAATACCTT TTTTAAGGGAGAAAAGCAAATTATAGAACAAAATGTACAGTATTATCATC TTTATGTTTTAAAAAACCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTTTGTGCATGTGTACATGCAT	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding		4165		chrX	TogoVar
VSIG1_chrX_108040065_108084184	108041553	C C	CGTGTGTG others(699): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCATGTGTACATGCA TAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTCCATGTGAGCCTGG GAAAGGGATTACATGTGTGAGTGAATGAATGGGACTTTTTTTCCTCTGTA TCCTTGTTTGTCCTTTGAAAACCATTTACTATCAAAATGTATTACTTTTG TAATTTTTAAGTTAAAAATGAGGGATAAATCAGATATCACATATTTCTGA AAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCATATTTGTTACATTACA ATCACACCGTGCCATTGTGTGGTGTGATAGGAACAGCTTCTAATGCGTGC TATGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCCTCAGTTTTCTTAT ATAGAAAATGTAGGTATACCTGACTTATTTGTTGTATTGGAAAGCTACAT GTTCATTGAACCATTGTCAATAATATTGAAAAACTGGAAACCATCTAAGA ATTTACCAATAAGAGAATGATTAAATAAATTGAGGTACATTCATATCATG AAATACCATGCAGCCTTAACATGGACAAGGTTGATCTATAGATGCAGTTG GACCCAGTGACAGAAAGAGAGAATAAAAATACCTTTTTTAAGGGAGAAAA GCAAATTATAGAACAAAATGTACAGTATTATCATCTTTATGTTTTAAAAA ACCTCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG02109.hp2 others(6): Show HG01081.hp1 HG01109.hp1 HG02109.hp2 HG02486.hp1 HG02723.hp2 HG02922.hp1 HG03471.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 others(6): Show a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063	9	281	0.0320	706	c.-35 others(717): Show c.-3578_-3577insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGT GCATGTGTACATGCATAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGT TCCATGTGAGCCTGGGAAAGGGATTACATGTGTGAGTGAATGAATGGGAC TTTTTTTCCTCTGTATCCTTGTTTGTCCTTTGAAAACCATTTACTATCAA AATGTATTACTTTTGTAATTTTTAAGTTAAAAATGAGGGATAAATCAGAT ATCACATATTTCTGAAAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCAT ATTTGTTACATTACAATCACACCGTGCCATTGTGTGGTGTGATAGGAACA GCTTCTAATGCGTGCTATGGTGACCTTGGGAAAAGCACAGCACTTTTGAG CCTCAGTTTTCTTATATAGAAAATGTAGGTATACCTGACTTATTTGTTGT ATTGGAAAGCTACATGTTCATTGAACCATTGTCAATAATATTGAAAAACT GGAAACCATCTAAGAATTTACCAATAAGAGAATGATTAAATAAATTGAGG TACATTCATATCATGAAATACCATGCAGCCTTAACATGGACAAGGTTGAT CTATAGATGCAGTTGGACCCAGTGACAGAAAGAGAGAATAAAAATACCTT TTTTAAGGGAGAAAAGCAAATTATAGAACAAAATGTACAGTATTATCATC TTTATGTTTTAAAAAACCTCGT	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding		3511		chrX	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(699): Show GGGAAAGGAAGGGAGGGGAGGGGAGGGAGGGAGAAAAGGGAAGTGAGAGG AAGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAG GGAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGG GAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGGAGGGAAGG GGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGG GGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGG AGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAGGGGAGGGAGAGGA GGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAG GGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGGGAGGG GAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAG GGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAA GGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAA GAAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0003 a0009c0026t0003	a0009c0026t0003g0078 a0009c0026t0003g0078	1	290	0.0035	706	c.205 others(725): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCC CTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCT CCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCTCTCCCTCCCCTCCCT CCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTC CCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCC TCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCC CCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCC CTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCT CCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCT CCCTCCCTCCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(699): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTGATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATA TTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATT ACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTT TTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTAT ACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAG ATACAAC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	432	0.0023	706	c.209 others(723): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTGA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAGCATATCTGTTGATC CAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACT AATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCT TCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCT TATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAG ATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(699): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAACTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATA TTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATT ACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTT TTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTAT ACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAG ATACAAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0205 a0001c0001t0012g0205	1	432	0.0023	706	c.209 others(723): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAACTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAGCATATCTGTTGATC CAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACT AATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCT TCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCT TATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAG ATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(699): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT AGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATA TTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATT ACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTT TTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTAT ACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAG ATACAAC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0046 a0003c0003t0003g0046	1	432	0.0023	706	c.209 others(723): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATAGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAGCATATCTGTTGATC CAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACT AATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCT TCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCT TATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAG ATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(699): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATA TTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATT ACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTT TTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTAT ACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAG ATACAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(277): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0002c0002t0001 a0003c0003t0003 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(243): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0376 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0004g0371 a0001c0001t0004g0372 a0001c0001t0004g0373 a0001c0001t0004g0374 a0001c0001t0004g0375 a0001c0001t0008g0231 a0001c0001t0008g0241 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0013g0270 a0001c0001t0016g0251 a0001c0001t0017g0298 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0194 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0351 a0002c0002t0001g0353 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0060 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0075 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0080 a0005c0005t0001g0285	280	432	0.6482	706	c.209 others(723): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAGCATATCTGTTGATC CAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACT AATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCT TCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCT TATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAG ATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(699): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCATTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAGTCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATA TTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATT ACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTT TTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTAT ACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAG ATACAAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0083 a0002c0002t0004g0083	1	432	0.0023	706	c.209 others(723): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCATTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAGT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAGCATATCTGTTGATC CAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACT AATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCT TCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCT TATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAG ATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(699): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCGTTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGAGAGGCTAAA ACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAATC GTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAAA AAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATA TTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATT ACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTT TTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTAT ACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAG ATACAAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18987.hp1 NA18967.hp2 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0180 a0002c0002t0002g0186 a0002c0002t0002g0180 a0002c0002t0002g0186	2	432	0.0046	706	c.209 others(723): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCGTTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGCATAGTGGTGGGTACCTGTAATC CCAGCTACTCGAGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTTG AGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACAA AAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGCATATCTGTTGATC CAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACT AATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCT TCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCT TATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAG ATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(699): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCGTTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAAA ACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAATC GTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAAA AAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATA TTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATT ACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTT TTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTAT ACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAG ATACAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(51): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01516.hp2 HG01928.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02293.hp1 HG02523.hp1 HG02717.hp2 HG02735.hp2 HG03239.hp1 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19009.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19062.hp1 NA19070.hp1 NA19074.hp2 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0002t0021 a0002c0007t0002 a0002c0002t0002 a0002c0002t0021 a0002c0007t0002	a0002c0002t0002g0007 a0002c0002t0002g0013 a0002c0002t0002g0018 others(44): Show a0002c0002t0002g0007 a0002c0002t0002g0013 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0126 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0135 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0172 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0379 a0002c0002t0021g0020 a0002c0007t0002g0018	54	432	0.1250	706	c.209 others(723): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCGTTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGCATAGTGGTGGGTACCTGTAATC CCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTTG AGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACAA AAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAAGCATATCTGTTGATC CAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACT AATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCT TCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCT TATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAG ATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF138_chr7_64789428_64838680	64829559	T T	TTTGACCT others(699): Show TTTGACCTCTTCTGCCCTTGTCTTGTTAATATTCGCATGGAATGTCTACT TCCATCTTGCCGTTTTTATTCTTTTGTTATCATGACACTGCAACTGACTT GTAAAAAGTCAAGTTGGATCTTGGTTTTTAAATGTTTTATATGAATTTAT TGATGGAAAGTATGTCTATTGAGGCCAGGCATGGTAGCTCACACATGTAA TCCCCACACTTTGGTGGTGGGTGGATCACCTGAGGTCAGAAGTTTGAGAC CAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAATACAAAAAGT AGCTGGGCATAGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGCTAA AACAAGAGAATTGCTTGAACCAGGAGGTTGAGGTTACAGTGGGTTGAAAT CGTGCCATTGCACTCTAGCCTGGGTGACAAAAGTAAAACTCCATCTCAAA AAAAAAAAAAAAAAGCATATCTGTTGATCCAAAAGTTAATTTTATATATA TTTAAGTAATTTTCTGAGAAAGACTTACTAATGTTATTTCATTGTTTATT ACATCTTTCTCATTTTCTTTTTTCTGTCTTCCTTTGTGTCTTTTTTATTT TTTTTACCGATATGCTTTCATTTCTGTCTTATTTTCTTTTGTGTATCTAT ACAGGTATTTTTCTTCTTGTACCTTGGAGATTACATAAAACTTCTAAAAG ATACAAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0127 a0001c0001t0011g0127	1	432	0.0023	706	c.209 others(723): Show c.209-1892_209-1891insTTGACCTCTTCTGCCCTTGTCTTGTTAA TATTCGCATGGAATGTCTACTTCCATCTTGCCGTTTTTATTCTTTTGTTA TCATGACACTGCAACTGACTTGTAAAAAGTCAAGTTGGATCTTGGTTTTT AAATGTTTTATATGAATTTATTGATGGAAAGTATGTCTATTGAGGCCAGG CATGGTAGCTCACACATGTAATCCCCACACTTTGGTGGTGGGTGGATCAC CTGAGGTCAGAAGTTTGAGACCAGCCTGGCCAATATGGTGAAAACCCATC TCTACTAAAAATACAAAAAGTAGCTGGGCATAGTGGTGGGTACCTGTAAT CCCAGCTACTCGGGAGGCTAAAACAAGAGAATTGCTTGAACCAGGAGGTT GAGGTTACAGTGGGTTGAAATCGTGCCATTGCACTCTAGCCTGGGTGACA AAAGTAAAACTCCATCTCAAAAAAAAAAAAAAAAAGCATATCTGTTGATC CAAAAGTTAATTTTATATATATTTAAGTAATTTTCTGAGAAAGACTTACT AATGTTATTTCATTGTTTATTACATCTTTCTCATTTTCTTTTTTCTGTCT TCCTTTGTGTCTTTTTTATTTTTTTTACCGATATGCTTTCATTTCTGTCT TATTTTCTTTTGTGTATCTATACAGGTATTTTTCTTCTTGTACCTTGGAG ATTACATAAAACTTCTAAAAGATACAAC	ZNF138	ENSG00000197008.10	transcript	ENST00000307355.12	protein_coding	3/3			chr7	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCCTCCC others(699): Show CCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCT CCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCCTCCCCTCCCCCTTC TTCCTCCCCTTCCCCTCCCCTCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCTCCTCCCTCCCCCCCTCCCCTCC CCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCTTCCTCCTCCCCTTCCCTT CCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCTCCCCTCCCCTCCCCTACCCTCCTCC CTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCC CCCTCCTCCCTCCCCCTCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCTTCCCCTCCCTCCCC TCCCCCTCTCCTCCCCCTCCTCTTCCCTCTCCTCCCCTCCCCCCCTCCCC CTTCTCCCCTCTCCCCTCCCTCCCCTTCCCTTCTCCTCCCCCTCCTCCCT CCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCG TCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCTT CCCCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	322	0.0031	706	c.4-1 others(719): Show c.4-1380_4-1379insCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCT TCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCC CTCCCCTCCCCCTTCTTCCTCCCCTTCCCCTCCCCTCCCCTTCCTCCTCC CCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCTCCTCCCT CCCCCCCTCCCCTCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCTTCC TCCTCCCCTTCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCT TCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCTCCTCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC TTCCCCTCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCTCTCCTCC CCTCCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCTCCCCTTCCCTTCTC CTCCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCC TCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTC CCTCCCCTCTCCCTTCCCCTCACC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADAMTS16_chr5_5135330_5325304	5305263	A A	ACACATCC others(700): Show ACACATCCCACACACACACACATCCTACATCACACACACATCCCACACCA CACACACACTTCCCACACCACACACACACACTTCCCACACCACACACACA CTCACACATCCCACACCACACACATCCCACACCACACACACACATACCGC ACACACACATACCACACCACACACACACATCCCACACCACACACACATCC CACACCACACACACATACCACACCACACACACACACATCCCACACCACAC ACACACCCCACACCACACACACACATCCCACACCACACACATCCACACCA CACACACACACATCCCACACCAGACACACACATCCCACACACACATCCCA CAACACACATACACATCCCACATCACACACACACATCCCACACACACATC CCACACCACACACACACATCCCACACACACACACCCACCACACACACACA TCCCACACCACACACACAATCCCACACCACACACACACACAATCCCACAC CACACACACACACATCCCACACCACACACACATCCCACGCCACACACACA CACATCCCACACCACACACACATCCCACACCACACACATCCACACCACAC ACACACATCCCACACCACACATACACACACACATCCCATACCACACACAT CCCACACCACACACACATCCCACACCACACACACATCCCACACCACACAC ACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0001 a0004c0034t0001	a0004c0034t0001g0262 a0004c0034t0001g0262	1	332	0.0030	707	c.318 others(726): Show c.3187-1241_3187-1240insCACATCCCACACACACACACATCCTA CATCACACACACATCCCACACCACACACACACTTCCCACACCACACACAC ACACTTCCCACACCACACACACACTCACACATCCCACACCACACACATCC CACACCACACACACACATACCGCACACACACATACCACACCACACACACA CATCCCACACCACACACACATCCCACACCACACACACATACCACACCACA CACACACACATCCCACACCACACACACACCCCACACCACACACACACATC CCACACCACACACATCCACACCACACACACACACATCCCACACCAGACAC ACACATCCCACACACACATCCCACAACACACATACACATCCCACATCACA CACACACATCCCACACACACATCCCACACCACACACACACATCCCACACA CACACACCCACCACACACACACATCCCACACCACACACACAATCCCACAC CACACACACACACAATCCCACACCACACACACACACATCCCACACCACAC ACACATCCCACGCCACACACACACACATCCCACACCACACACACATCCCA CACCACACACATCCACACCACACACACACATCCCACACCACACATACACA CACACATCCCATACCACACACATCCCACACCACACACACATCCCACACCA CACACACATCCCACACCACACACACACACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(700): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATGATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATAAT ATATTATATATTCTCATATAATATATTATATATTCTCATATAATATATTA TATATGCTCATATATAATATATTATATATGCTCATATATAATATATTATA TATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATA TGCTCATATATAATATATTATATATGCTCATATATAATATATTATATATG CTCATATATAATATATTATATATGCTCATATATAATATATTATATATGCT CATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0000 a0001c0001t0016g0000	1	416	0.0024	707	c.10 others(720): Show c.10504_*10505insTATATATGAGCATATATAATATATTATATATG AGCATATATAATATATTATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATGAGAATATATA ATATATTATATGAGAATATATAATATATTATATGAGAATATATATTATAT ATGAGAATATATAATATATATGAGAATATATATAATATGTCATATATGAG AATATATATTATATATGAGAATATATATTATATAAATGAGAAAATATATA TTATATATTAGAATATATACATCATATATGAGTATATATATAATATATGA GAATATATATAATATATGAGTATATATTATATATATGAGAATATATATTA TATATGAGAATATATATATTATATATATGAGAATATATAATATATATATA TGAGAATATATATTATATATATGAGTATATATAATATATATGAGAATATA TATTATATGTATATAATATATATAATATATAATATATAATATATAATATA TAATATATACATATATACATATAATATATAAACATATAATATATAATATA TACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(700): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCA CTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACA CTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACACT TCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACC ACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGA GCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCC GTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTA GCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACA CATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	246	0.0041	707	c.-18 others(718): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGT CACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCAC GGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTA AATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAG GGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCT CGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687515	C C	CGTGACCA others(700): Show CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGG CGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACA CACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAACA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTC CCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0011	1	246	0.0041	707	c.-19 others(718): Show c.-1912_-1911insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGG GAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCC AGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGG GGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTC ACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAA GTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGT GTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1670		chr8	TogoVar
BRF1_chr14_105204286_105306001	105236468	A A	AGCTGGGG others(700): Show AGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAA CAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGC CCAGCTGGGGGCGGGCAGCCCCGTGGCCCCCTCAGGAGCAACAAACCTAG CATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAAGCTG GGGGCGCGCGGGCGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAAC AACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCC CAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCTCAGGAGCAA CAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGC CCAGCTGGGGGGCGGGGGACAGCTGGCAGCCCCGTGGCACCCTCAGGAGC AACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTC GCCCAGCTGGGGGGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGAGC AACAACCCTAGCATCTCAGGAGAGAGAGGCACACCACTGTCCGCGTAGTC GCCCAGCTGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCAACCCTCAGGA GCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAG TCGCCCAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	72	0.0139	707	c.694 others(724): Show c.694+4796_694+4797insGTGGGCGACTACGCGGACAGTGGTGTGG CCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTTGCCACGGGG CTGCCAGGCTGTCCCCCGCCCCAGCTGGGCGACTACGCGGACAGTGGTGT GCCTCTCTCTCCTGAGATGCTAGGGTTGTTGCTCTGAGGGTGCCACGGGG CTGCCAGGCTGTCCCCCCCCCCAGCTGGGCGACTACGCGGACAGTGGTGT GGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGG GCTGCCAGCTGTCCCCCGCCCCCCAGCTGGGCGACTACGCGGACAGTGGT GTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGTGCCACGG GGCTGCCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGG TGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCAC GGGGCTGCCAGGCTGTCGCCCGCGCGCCCCCAGCTTGGGCGACTACGCGG ACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTTGTTGCTCCTGAG GGGGCCACGGGGCTGCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGT GTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACG GGGCTGCCAGGCTGTCCCCCGCCCCCAGC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C11orf24_chr11_68256338_68276973	68264684	C C	CTATCCAT others(700): Show CTATCCATCCATCCACCCACCCACCCCATCCATCCACCCACTCATCCATC CATCCATCCATCCATCCTTCTATCCATCTACTCATCTGTCCATCCATCCA TCCATCCACCCACCCATCCACCCACCCACTCTTCCATCCATCCATCCACC CACTATTCTATACATCTACTCATCTGTCCATCCATAGGTTCACTCATCCA TCCATCCATCCATCTACCCACCCACCCATCCATCTATCCACTATTCTATT CATCTATTCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCACTCATCCACTTTTCCATCCATCTACTCATC TGTCCATCCACCCACCCATGCATCCATCCATCCACCCACCTGTCCATCCA CCCATCCACCCACCCACCCGTCCATCCACCCACCCATCCGTCCATCCACC CATCCATCCACCCACCCCCACCCACCCATCCATCCATCCACCCACCCACC CACCCATCCACCCACCCACTCACCCATCCATCCATCCATCCACCCATCCA TCCATCCATCCATCCACCCATCCATCCATCCACCCACCCATCTATCCATC CATCCATCCACCCACCCACCCACCCATACACTCATCCATCCATCCATCCA TCCATCCATCCATCCATCCACCCATCCATCCATCCATCCACCCACCCACC CACACACT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	400	0.0025	707	c.-99 others(722): Show c.-99-819_-99-818insAGTGTGTGGGTGGGTGGGTGGATGGATGGA TGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGAGTG TATGGGTGGGTGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGGTGGATGGATGGATGGATGGATGGGTGGATGGATGGATG GATGGGTGAGTGGGTGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGGA TGGGTGGGTGGGGGTGGGTGGATGGATGGGTGGATGGACGGATGGGTGGG TGGATGGACGGGTGGGTGGGTGGATGGGTGGATGGACAGGTGGGTGGATG GATGGATGCATGGGTGGGTGGATGGACAGATGAGTAGATGGATGGAAAAG TGGATGAGTGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGACAGATGAATAGATGAATAGAATAGTGGATAGATGGA TGGGTGGGTGGGTAGATGGATGGATGGATGGATGAGTGAACCTATGGATG GACAGATGAGTAGATGTATAGAATAGTGGGTGGATGGATGGATGGAAGAG TGGGTGGGTGGATGGGTGGGTGGATGGATGGATGGATGGACAGATGAGTA GATGGATAGAAGGATGGATGGATGGATGGATGGATGAGTGGGTGGATGGA TGGGGTGGGTGGGTGGATGGATGGATA	C11orf24	ENSG00000171067.11	transcript	ENST00000304271.11	protein_coding	2/3			chr11	TogoVar
CFAP46_chr10_132803392_132947570	132888753	T T	TCACCCCT others(700): Show TCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCC TGCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCT GCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCT GCACCTGCCACCTTCACCCCTGCAGCCTGCACCTGCCACCTTCACCCCTG CCGCCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTG CACCCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCT GCCGCCTGCACCCCTGCCGCCTTCACCCCTGCCACCTTCACCCCTGCCGC CTGCACCCCTGCCGCCTGCACCCCTGCCACCTGCACCCCTGCCACCTTCA CCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGC CGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTGC ACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCCTG CCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTT CACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCT GCCGCCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp2 HG02109.hp1 others(17): Show HG00544.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03669.hp2 HG03927.hp1 NA18522.hp2 NA19004.hp2 NA20300.hp1 NA20905.hp2	a0008 a0009 a0023 others(7): Show a0008 a0009 a0023 a0024 a0028 a0029 a0045 a0051 a0062 a0071	a0008c0009 a0008c0097 a0009c0018 others(10): Show a0008c0009 a0008c0097 a0009c0018 a0009c0021 a0023c0058 a0024c0036 a0024c0060 a0028c0027 a0029c0100 a0045c0059 a0051c0105 a0062c0093 a0071c0098	a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 others(11): Show a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 a0009c0018t0001 a0009c0021t0001 a0023c0058t0001 a0024c0036t0001 a0024c0060t0001 a0028c0027t0002 a0029c0100t0002 a0045c0059t0001 a0051c0105t0001 a0062c0093t0001 a0071c0098t0002	a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 others(17): Show a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0008c0097t0001g0118 a0009c0018t0001g0172 a0009c0018t0001g0228 a0009c0021t0001g0243 a0009c0021t0001g0244 a0023c0058t0001g0154 a0024c0036t0001g0169 a0024c0060t0001g0173 a0028c0027t0002g0028 a0028c0027t0002g0077 a0029c0100t0002g0019 a0045c0059t0001g0167 a0051c0105t0001g0239 a0062c0093t0001g0121 a0071c0098t0002g0023	20	246	0.0813	707	c.330 others(726): Show c.3305-2795_3305-2794insCAGGCGGCAGGGGTGAAGGCGGCAGG GGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAG GTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAG GGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAA GGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCA GGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGC AGGTGGCAGGGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTG GCAGGGGTGAAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGTGGCAGG TGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGCGGCAGGGGTGAAG GTGGCAGGTGCAGGCGGCAGGGGTGAAGGCGGCAGGGGTGAAGGTGGCAG GTGCAGGCTGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGG TGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGG TGAAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAGGGGTGAAGGC GGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGG GTGAAGGTGGCAGGTGCAGGCGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(700): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCT GGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAG GGGAGGAAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGG GGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0022 a0001c0007t0022	a0001c0007t0022g0033 a0001c0007t0022g0033	1	168	0.0060	707	c.-26 others(716): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCAGCTCCCCTTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCA GCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCC TCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCC TCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCT GCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(700): Show GGGAGGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGGAGCAGGGGAGGGGG AGGAGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCT GGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGGAGGAGGGGGAGCAGG GGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAG GGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAG GAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAGG GGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0082 a0001c0001t0009g0082	1	168	0.0060	707	c.-26 others(716): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTC CTCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCCTC CCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCTG CTCCCCCTCCTCCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(700): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATAAAAATATA TATAAATATATAAAAAATATAAATATATATAAATATATAAATATATGTAA ATATATATAAATATATATATAAATATATATATAAATATATATATAAATAT ATATATAAATATATATATAAATATATATATAAATATATATATAAATATAT ATATAAATATATATATATAAATATATATAAATATATAACTATATAAATAA ATATATATAAATATATAAATATATAAAAATATATATAAATATATATGTAA ATATATAAATATATATAAATATATATAAATATATATAAGTATATAAATAT ATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTAT ATAAATATATATATAAATATATATAAGTATATAAATATATATAAATATAT ATAAGTATATAAATATATATATAAATATATATAAGTATATATAAATATAT ATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTATAT ATAAATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0234 a0012c0017t0001g0234	1	264	0.0038	707	c.181 others(726): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATATTTATATATATTTACATATATTTATATAT TTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATATT TATATATTTATAAATATATATATATTTATATATTTATAAATATATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATTTA TATTTATATATATTTACATATATATTTAGAATTACATATTTATATATATA TTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(700): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATATATTTATAAATATATAAATATATATATATTTATA AATATATAAATATATATATATTTATAAATATATAAATATATATATATTTA TAAATATATAAATATATATAAAAATATATATAAATATATAAAAAATATAA ATATATATAAATATATAAATATATGTAAATATATATAAATATATATATAA ATATATATATAAATATATATATAAATATATATATAAATATATATATATAA ATATATATAAATATATAACTATATAAATAAATATATATAAATATATAAAT ATATAAAAATATATATAAATATATATGTAAATATATAAATATATATAAAT ATATATAAATATATATAAGTATATAAATATATATAAATATATATAAGTAT ATAAATATATATATAAATATATATAAGTATATAAATATATATATAAATAT ATATAAGTATATAAATATATATAAATATATATAAGTATATAAATATATAT ATAAATATATATAAGTATATATAAATATATAAAAATATATATAAGTATAT ATAAATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	264	0.0038	707	c.181 others(726): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATTTATATACTTATATATATTTATATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATTTATATACTTATATATATTTATATATATTTATATATATTTATAT ATTTACATATATATTTATATATATTTTTATATATTTATATATTTATATAT ATTTATTTATATAGTTATATATTTATATATATTTATATATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATATTTATAT ATATTTACATATATTTATATATTTATATATATTTATATTTTTTATATATT TATATATATTTTTATATATATTTATATATTTATAAATATATATATATTTA TATATTTATAAATATATATATATTTATATATTTATAAATATATATATATT TATATATTTATAAATATATATATATTTATATATTTATAAATATATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATTTA TATTTATATATATTTACATATATATTTAGAATTACATATTTATATATATA TTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CTDP1_chr18_79674803_79759503	79684967	T T	TGCGGTGC others(700): Show TGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGA CCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCTCCTTACGGGGTGTG AGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGG TTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGG TGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTAC AGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGACCTCGTGGTCTCTAC TCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGA GGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCC CCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTG GTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTATGGGGTGTGAGGTCCT GGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCT GCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGG ACCTCGTGGTCTCTAGTCCCGGTTTCTCCGCGGTGCTCCTTACGGAGTGT GAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTAGTCCCG GTTTCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02615.hp2 others(2): Show HG01255.hp2 HG02109.hp1 HG02615.hp2 HG02886.hp2 NA20300.hp2	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0001c0018 a0010c0030 others(1): Show a0001c0001 a0001c0018 a0010c0030 a0011c0032	a0001c0001t0001 a0001c0018t0001 a0010c0030t0001 others(1): Show a0001c0001t0001 a0001c0018t0001 a0010c0030t0001 a0011c0032t0001	a0001c0001t0001g0084 a0001c0018t0001g0085 a0001c0018t0001g0086 others(2): Show a0001c0001t0001g0084 a0001c0018t0001g0085 a0001c0018t0001g0086 a0010c0030t0001g0082 a0011c0032t0001g0083	5	378	0.0132	707	c.314 others(724): Show c.314+4713_314+4714insCCCTTACGGGGTGTGAGGTCCTGGTGAG GATCAGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCT CCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTG GTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCT GGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCT GCGGTGCCCCTTACAGGGTGTGAGGTCCTGGTGAGGATCAGTGCAGGGAC CTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGA GGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTACTCCCGGT TTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGGAGGACGGT GCAGGGACCTCGTGGTCTCTACTCCCGGTTTCTCTGCGGTGCCCCTTATG GGGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGTGGTCTCTA CTCCCGGTTTCTCTGCGGTGCCCCTTACGGGGTGTGAGGTCCTGGTGAGG AGGACGGTGCAGGGACCTCGTGGTCTCTAGTCCCGGTTTCTCCGCGGTGC TCCTTACGGAGTGTGAGGTCCTGGTGAGGAGGACGGTGCAGGGACCTCGT GGTCTCTAGTCCCGGTTTCTCCGCGGTGC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(700): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGGGGAGGGGAGGGGGGGGAGGGGGAGGGGGG AGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGA AGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGG GAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAG GGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGG AGGGGAGG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0198 a0001c0001t0010g0198	1	216	0.0046	707	c.923 others(726): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCC CCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCCTCCCCCCCTCCCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCACTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCT TCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(700): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGGGGA GGAGGGGGAGGAGGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGG GAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGA AGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGG GAGGAGGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0028 a0028	a0028c0200 a0028c0200	a0028c0200t0001 a0028c0200t0001	a0028c0200t0001g0046 a0028c0200t0001g0046	1	252	0.0040	707	c.118 others(726): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCTCCCTCCTCCTTC CTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCCTC TTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCTC CTCCCCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCC TCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCT CCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCT CCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(700): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGG GAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGA GGAGGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGAGGAG GGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGA GGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGAGGAGGAGGGAGGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAAGGA GGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGGAGGAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0040 a0040	a0040c0187 a0040c0187	a0040c0187t0002 a0040c0187t0002	a0040c0187t0002g0168 a0040c0187t0002g0168	1	252	0.0040	707	c.118 others(726): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTC CCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCT CCTCCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCTC CCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTC CTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCC CTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCC CTCCTCCCTCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTC CTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
FERMT1_chr20_6069845_6128030	6125413	C C	CTGTCCTA others(700): Show CTGTCCTAGGCTTTTTTTTTTTTTTTTTTTTTTAGGGGGTTTTATTTTTT TATTATTTTTTTATTTTTATTTATTTATTTATTTATTTTTTTTATTATAC TCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTA TACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATT AGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAG TCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTC AATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGC GATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAA GGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATA TGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGG TTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCA TGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTA ATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAAT TGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACA GTGTAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02257.hp2 others(3): Show HG01243.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG03516.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0002 a0002c0011 others(1): Show a0001c0003 a0002c0002 a0002c0011 a0004c0007	a0001c0003t0003 a0002c0002t0026 a0002c0011t0016 others(3): Show a0001c0003t0003 a0002c0002t0026 a0002c0011t0016 a0002c0011t0059 a0002c0011t0060 a0004c0007t0001	a0001c0003t0003g0298 a0002c0002t0026g0302 a0002c0011t0016g0204 others(3): Show a0001c0003t0003g0298 a0002c0002t0026g0302 a0002c0011t0016g0204 a0002c0011t0059g0300 a0002c0011t0060g0301 a0004c0007t0001g0148	6	368	0.0163	707	c.-26 others(718): Show c.-2659_-2658insTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACT ATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAG ACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCC ATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGA AACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCA TATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGA GGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTG CAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAATAAATAAATAA ATAAATAAAAATAAAAAAATAATAAAAAAATAAAACCCCCTAAAAAAAAA AAAAAAAAAAAAAGCCTAGGACA	FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding		2384		chr20	TogoVar
FLT4_chr5_180596506_180654600	180635750	T T	TGGGTGGA others(700): Show TGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGGGTGGATG GGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGG TGGACGGATGGATGGATGAAGTATGGGTGGATGGGTGGGTGGGTGGATGC ATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGAT GCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGACGGATGGATGG ATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAA GTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGCATGG AAGTATGGGTGGATGGGTGGGTGAGTGGGTGGATGGAAGTATGGGTGGAT GGGTGGGTGGATGGGTGGATGGATGCATGTATGGAAGTATGGATGGATGA GTGGATGGGTGGGTGGGTGGATGCATAGATGGATGGAAGTATGGGTGGAT GGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAGTAAGGGTGGATGG GTGGATGGGTGGGTGAGTGGGTGGATGCATGGATGGATGGAAGTATGGGT GGATGGGTGGATGGGTGGGTGGGTAGGTGGATGGATGCATGGATTGAAGT ATGGGTGGATGGGTGGGTGGGTGGGTGGGTGGATGGATGGATGCATGGAT GGAAGTAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0298 a0002c0003t0003g0298	1	388	0.0026	707	c.59- others(722): Show c.59-3973_59-3972insGTACTTCCATCCATGCATCCATCCATCCAC CCACCCACCCACCCACCCATCCACCCATACTTCAATCCATGCATCCATCC ACCTACCCACCCACCCATCCACCCATCCACCCATACTTCCATCCATCCAT GCATCCACCCACTCACCCACCCATCCACCCATCCACCCTTACTTCCATCC ATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCAT CTATGCATCCACCCACCCACCCATCCACTCATCCATCCATACTTCCATAC ATGCATCCATCCACCCATCCACCCACCCATCCACCCATACTTCCATCCAC CCACTCACCCACCCATCCACCCATACTTCCATGCATCCATGCATCCATCC ACCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCAC CCACCCACCCATCCACCCATACTTCCATCCATCCATCCGTCCACCCACCC ATCCACCCATACTTCCATCCATCCATGCATCCATCCACCCACCCACCCAC CCATCCACCCATACTTCCATCCATCCATGCATCCACCCACCCACCCATCC ACCCATACTTCATCCATCCATCCGTCCACCCACCCATCCACCCATACTTC CATCCATCCATGCATCCACCCACCCACCCATCCACCCATACTTCCATCCA TCCATCCGTCCACCCACCCATCCACCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar

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