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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SGK3_chr8_66707781_66867022	66725418	AGTGTTTA others(590): Show AGTGTTTATCTCTTTGGGGTAGGGGATGAGAACTGGGTGGATAGGGATGG GTGGGAAGCCGACTTCTCACTATTTTTTTTTTTAACCCTGTGAATATGTA ACCCATTGTTAAAATAATGTTTAAAATCATGTCCCGGAGTTTCCTGACTT AAAAAATAGATCTATATATATCTAGCGTTCTTTTTCCATATAAAGTCATT AGTAAAGTTGTGTTTTAATTTTTTTTTTTTAAGAATGCATGTATAGTCTA GTCTCAAAGGACCAGTAGTAATTTGCAGGTGCCTTGCCATGGCTTTGTTC TCCTTCAGCACTCTCAAATGCTGTGACTAAGATTCATTATGAAGCCTTCC ATTAGGAAATTCTCATACTGCAAATACAGCCAAACCTTAAATTATTGCTG GCTTATTGGAAGAACCATTTAATTGAAGTTATCTGCGGTATTTTGCCAAC TGGATACTCAGTTGTTTCCTAATAAAAACTCTTAGATAATACCATTGCAA TTACTGCAACATCAGTTTATCTTCTCCCCATGATATCTTGTATCTTATCA TCATGGTTATAATTTACCTACTTAAGATGATATGAGTTTGGTGCTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	142	0.0070	-597	c.-12 others(21): Show c.-122+12586_-122+13182del	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16			chr8	TogoVar
SLC7A1_chr13_29504414_29600688	29558489	GTGAGGGG others(590): Show GTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAATGAGGGGGA GAGAATGTGAGTGATGGGGAGAGAATGTGAGTGGGGGGAGTGAATGTGAG TGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAATGAGGGGGA GAGAATGTGAGTGAGCGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGA GTGAGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGGGGGGAGA GAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGT GAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAG TGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAG AGAATGTGAGTGAGGCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGA GGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18970.hp1 NA19007.hp1 NA18944.hp2 NA18970.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0004 a0001c0022t0038 a0001c0002t0004 a0001c0022t0038	a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0022t0038g0138 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0022t0038g0138	3	330	0.0091	-597	c.-11 others(19): Show c.-114-5226_-114-4630del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
UBE4B_chr1_10027958_10186239	10133839	AGGGAGGT others(590): Show AGGGAGGTCGAGACCAGCCTGGGCAACATAGGGAGACCCTGTCTCTACAA AAAAAATAAAAAATTAGCCAGTATAGTGGCATAGACCTGTAGACCCAGTT ATTCAGGAGGCTGAAGTGGGAGGATCACTTAAGCCCGGGAGGTTGAGGCT GCAGTGAGCTATGTTTGCACCACTGCACTACAGCCTGGGCAACAGAGTAA AACCCTGTCTCAAAAAAAAAAAAGAAAGAAAGAAAGAAACATTTATTGTG TTTCTACTTACTAATTTTGAGCCTCAGGCAAATCACTTCAGGGTCTCTGA GTCTTTATTTCCTCCTGCATAAAATGTTAACAGCAGTATTACTGACCTGT AAGAATTATCGTGATGGTTCAGTAAAAGAATGTATAAAATGGCCAAGCGT GGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCCGAGACGGGCGTA TCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTTGCCGGGCGTGGTGGCGGGTGCCT GTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCACTTGAACCC	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	222	0.0045	-597	c.202 others(18): Show c.2026-1142_2026-546del	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNN2_chr19_1021608_1044065	1034476	GACCGGCA others(589): Show GACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCATGGGTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGG GTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG03225.hp1 others(1): Show HG02055.hp2 HG02615.hp1 HG03225.hp1 HG03688.hp1	a0001 a0001	a0001c0008 a0001c0011 a0001c0008 a0001c0011	a0001c0008t0019 a0001c0008t0020 a0001c0011t0004 a0001c0008t0019 a0001c0008t0020 a0001c0011t0004	a0001c0008t0019g0173 a0001c0008t0020g0172 a0001c0008t0020g0174 others(1): Show a0001c0008t0019g0173 a0001c0008t0020g0172 a0001c0008t0020g0174 a0001c0011t0004g0156	4	390	0.0103	-596	c.391 others(17): Show c.391-1648_391-1053del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
COLEC11_chr2_3590112_3649644	3590548	TCCCTCCC others(589): Show TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GAGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGC AGAGGGGTCCTCACTTCCCAGTAGGGGCGGCGGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	378	0.0027	-596	c.-46 others(11): Show c.-4646_-4051del	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4563		chr2	TogoVar
MBTPS1_chr16_84048763_84121942	84051163	CCGCATGT others(589): Show CCGCATGTGGGTAAGGAGAGCTACAAGGCCGCATATAGGTAAGGAGAGCT GCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAG GAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTG GGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGGCC GCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGG CAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTAAG GAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTG GGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCTGCAAGGCC GCATGTGAGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGC AAGGCCCACATGTGGGTAAGGAGAGTGGCAAGGCCCGCATGTGGGTAAGG AGAGCTACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTG GGTAAGGAGAGCTGCAAGGCCCCATGTGGGTAAGGAGAGCTGCAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02572.hp2 HG02630.hp1 others(6): Show HG01433.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG03195.hp1 HG03225.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0006 a0009c0016t0006 a0001c0001t0006 a0009c0016t0006	a0001c0001t0006g0027 a0001c0001t0006g0189 a0001c0001t0006g0190 others(6): Show a0001c0001t0006g0027 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0195 a0001c0001t0006g0196 a0009c0016t0006g0200	9	424	0.0212	-596	c.26 others(11): Show c.2690_*3285del	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2599		chr16	TogoVar
SCUBE1_chr22_43192280_43348372	43199142	TTTCTAGG others(589): Show TTTCTAGGAGCCTGGCACACAGGAGGTGCTCAGTAAATGTTTGCGAAATG ACTCAACTTATTTCAGTATCTTATTTTTTCTGCTGGGGGTGGTGGAGGCA CCGGAATAATATTCAACTCCAAAAATGTAAATTAAGCATCGGTATGGCTT AAACAGGCCAGGGGCCTCCTGCCGTGGACAAGCCCAGGGGACAGGCTTCA CTGAGACGCTGCCTGCGGATGGTGCGTCTCTTAAGAACGAGCGTGCATGA AAAGGGGGGCCATTCAGACAGAAAACTACGCTCGTTAGAGGTAGGGGAAA TGGCTTCTCTCCCAAGGCCTTCAAATTTGGCCTCTTGTGCCATCCTTGTC TGGGGATGTTTTGGCCCGTGTTTCAGCTCTACTTTATCTGTGTGTCCTAA GCCAATGGGTAGCTGGAGAGAAAGCTGCCTGAGGCCTCCACCGTGGGCCC ACCGTGAGCCCTGCAGCCTGGGCCACCATGGAGGTGGGGGAGGACTGGGC CACACTGTACCCTTGGGGATCCAGCGTTTCGGAAACTGGTCATCGCCTTG CCAGCGTGACCTGTGTGGGGCAGGGGCACTGAGGCTGGGGAGCGTAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp1 HG02818.hp2 HG02922.hp1 others(5): Show HG02004.hp1 HG02818.hp2 HG02922.hp1 HG03486.hp1 HG03579.hp2 HG04204.hp1 NA19043.hp1 NA20905.hp1	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0008 a0004c0028 a0015c0033 a0001c0008 a0004c0028 a0015c0033	a0001c0008t0009 a0001c0008t0020 a0004c0028t0009 others(2): Show a0001c0008t0009 a0001c0008t0020 a0004c0028t0009 a0004c0028t0087 a0015c0033t0009	a0001c0008t0009g0115 a0001c0008t0009g0200 a0001c0008t0009g0248 others(5): Show a0001c0008t0009g0115 a0001c0008t0009g0200 a0001c0008t0009g0248 a0001c0008t0020g0030 a0001c0008t0020g0091 a0004c0028t0009g0044 a0004c0028t0087g0273 a0015c0033t0009g0061	8	280	0.0286	-596	c.42 others(11): Show c.4259_*4854del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22	4259		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280857	CCTCCTCC others(589): Show CCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCT CCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCC TCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCC TTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCA GCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCA GTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCT ATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCT CCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCT GTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTC ACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTC ACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACC TCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCAT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0025 a0002c0009t0025	a0002c0009t0025g0070 a0002c0009t0025g0070	1	280	0.0036	-596	c.484 others(18): Show c.484+9593_484+10188del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDHA_chr5_213320_262082	261486	CCAGAGCA others(589): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG AGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCT CCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCA TTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGC CTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTAC CGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGTGAGCTCCGCCCTC CCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGT GTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGT CACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGA GCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0101 a0002c0003t0004g0101	1	266	0.0038	-596	c.50 others(11): Show c.5067_*5662del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4405		chr5	TogoVar
SGSM2_chr17_2332501_2386054	2356278	GTTGGGGC others(589): Show GTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAG TTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA TTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGAT TGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGTT GGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGATT GGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0101 a0001c0025t0001g0101	1	422	0.0024	-596	c.134 others(17): Show c.134-5352_134-4757del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP11A_chr13_112685038_112892168	112766810	ACTGTGGG others(588): Show ACTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGC TGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCAC TGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGG TGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTG TGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATC GGGGGCCCCTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCT GTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTG GGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTG GGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGG GGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0077 a0001c0006t0001g0077	1	254	0.0039	-595	c.40- others(17): Show c.40-18244_40-17650del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864489	CACAGTAA others(588): Show CACAGTAATTCAGTGCAGCCCGTGCAGCTTCCCAGCGGGGTCCATCACCA CCTGCGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCCATC ACCACCTGCACAGTAATTCAGTGCGGCCCATACAGCTTCCCAGCGGGGTC CATCACCACATGGGCAGTAATTCAGTGCGGCCCATGCAGCTTCCCAGCGG GGTCCATCACCACCTGCGCAGTAATTCAGTGCAGCACGTGCAGCTTCCCA GCGGGGTCCATCACCACCTGCACAGTAATTCAGTGCGGCCCATGCAGCTT CTCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGCCCATGCA GCTTCCCAGCGGGATCCATCACCACCTGCGCAGTAATTCAGTGCAGGCCT GCGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCG GCCCATGCAGCTTCTCAGCAGGGTCCATCACCACCTGCACAGTAATTCAG TGCAGCCCGCGCAGCTTCCCAGTGGGGACCATCACCACGTGCGCAATAAT TCAGCGTAGCACGTGCAGCTTCCCAGCGGGATCCATCACCACATGG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01169.hp2 HG01243.hp2 others(6): Show HG00733.hp2 HG01169.hp2 HG01243.hp2 HG02155.hp1 HG02523.hp2 NA18950.hp2 NA18978.hp2 NA19085.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0003c0007	a0001c0001t0001 a0001c0001t0010 a0001c0006t0077 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0006t0077 a0001c0011t0001 a0003c0007t0005	a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0104 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0010g0095 a0001c0001t0010g0122 a0001c0006t0077g0159 a0001c0011t0001g0003 a0003c0007t0005g0205	9	254	0.0354	-595	c.299 others(19): Show c.2991+1915_2991+2509del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29			chr13	TogoVar
HMGCLL1_chr6_55429373_55584192	55476940	CTGCTCTT others(588): Show CTGCTCTTAAATCAAATTATGAATTCGCTGTCCTTATGTGTAAGCCTTGT TTATAAAAATTATGGGCAAAAATCCTTTGGGTATATACCCAGTAATGGGA TGGCTGGGTCAAATGGTATTTCTATGTAACAAACCTGCACATTGTGCACA TGTACCCCAGAACTTAGAGTATTTTATATATATCATATATATATAATAGA TATAATATATATATTATATATTATAATATAATATATATTATATTTATATA TTATATATTATATAATATATATTATATTATAATATATAATATATATTATA TTTATATAATATATAATATATATTATATAATATATATTATATATTATATA TAAAATAATATATATTATATATATAATATATATTATATTATATAATATAT ATTATATTTAGATAATATATATTATATTAATATAATATATATTATCTAAA TATAATATATATTATCTAAATATATATTATCTTAATATATATTATATATT ATATATATAATATATTACATATAATATATAATATATATATTATATTACAT ATACATATTACATATATTATATATGTAATTACATATATATATAATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp2 HG01106.hp2 others(46): Show HG00558.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01361.hp2 HG01515.hp1 HG01943.hp2 HG01952.hp2 HG02027.hp1 HG02040.hp1 HG02129.hp2 HG02976.hp1 HG03239.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18951.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18983.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19064.hp2 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0001 a0001c0001t0002 a0001c0001t0018	a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0073 others(45): Show a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0134 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0283 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0316 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0002g0044 a0001c0001t0002g0086 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0176 a0001c0001t0002g0234 a0001c0001t0002g0246 a0001c0001t0002g0256 a0001c0001t0002g0276 a0001c0001t0002g0294 a0001c0001t0002g0315 a0001c0001t0018g0235	49	334	0.1467	-595	c.795 others(19): Show c.795+17884_795+18478del	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
ITSN2_chr2_24197864_24365536	24324258	ATTAAATT others(588): Show ATTAAATTTTTTTTAAAAAGCTGCTCTAACATACATGGGTATATATACCC CCGGGCAGTGATGGACTCTACTGCTATCCTAAGACAAAAGAGAGTTCTGC TGCATCAAGATTGATGCACCAATGCTCATCACAGTATGATGCTTTCTTAT ATATATTACTATCTCCTGACATTTCCTTGGCTATGTGTTTTCACAGGGGC TAAACTCAACCCATCTGTTTGTTTACTGCTTAGTTCCTCATGTCTCCAAT CAGTAATCTTGACACCTTCATATTCATTCATTCAGTAAATGTTTATGGGG TACAAAGATGAATAAAATGAACCACTTGCCTGGGCACAGCCCAGCACTTC AGAAGGCTAGGGCAGGAGGATCACTTGAGCCCAGGAGTTGAGACCAGCCT GGTCAACATAGTGAGACCCCTATCTCTAAAAAAAAAATTCTTTTAAGTAG CTGGTCTTGGTGGCACATGTCTGTAGTCCCAGTTACTCTGGAGGCTGAGG CAGAAGGAATTGCTTGAGCCTGGAGGTTGAGATTGCAGTGAGCAATGTTC ATGCCACTGTACTCCAGGCTGGGTTGACAGAGTAAGACCCTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02897.hp1 HG02647.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0105 a0001c0001t0001g0030 a0001c0001t0001g0105	2	224	0.0089	-595	c.31+ others(15): Show c.31+3199_31+3793del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
OR2W3_chr1_247890587_247901531	247893461	TTTGGTCT others(588): Show TTTGGTCTTTGATGATGGTGATGTACAGATGGGTTTTTGGTGTGGATGTC CTTTCTGTTTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGG TCTGTTGGAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGG GTGCCTCCCAGTTAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGA GGAGGCAGTCTGCCCGTTCTCAGATCTCCAGCTGCATGCTGGGAGAACCA CTGCTCTCTTCAAAGCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTA CTGCTGTCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACA GAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCT TCCAGGCTGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCC TCCCCCAGCCTCGCTGCTGCCTTGCAGTTTGATCTCAGACTGCTGTGCTA GCAATCAGCGAGATTGCATGGGCGTAGGACCCTCCGAGCCAGGTGTGGGA TATAGTCTCGTGGTGCGCCGTTTTTTAAGCCGGTCTGAAAAGCGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(91): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02293.hp2 HG02486.hp2 HG02735.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0000 a0001 a0002 others(7): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0000c0005 a0000c0028 a0001c0002 others(11): Show a0000c0005 a0000c0028 a0001c0002 a0001c0003 a0001c0031 a0002c0001 a0003c0004 a0004c0006 a0005c0008 a0005c0013 a0006c0007 a0007c0009 a0008c0010 a0009c0012	a0000c0005t0000 a0000c0028t0000 a0001c0002t0000 others(11): Show a0000c0005t0000 a0000c0028t0000 a0001c0002t0000 a0001c0003t0000 a0001c0031t0000 a0002c0001t0000 a0003c0004t0000 a0004c0006t0000 a0005c0008t0000 a0005c0013t0000 a0006c0007t0000 a0007c0009t0000 a0008c0010t0000 a0009c0012t0000	a0000c0005t0000g0000 a0000c0028t0000g0000 a0001c0002t0000g0000 others(11): Show a0000c0005t0000g0000 a0000c0028t0000g0000 a0001c0002t0000g0000 a0001c0003t0000g0000 a0001c0031t0000g0000 a0002c0001t0000g0000 a0003c0004t0000g0000 a0004c0006t0000g0000 a0005c0008t0000g0000 a0005c0013t0000g0000 a0006c0007t0000g0000 a0007c0009t0000g0000 a0008c0010t0000g0000 a0009c0012t0000g0000	94	388	0.2423	-595	c.-21 others(11): Show c.-2125_-1531del	OR2W3	ENSG00000238243.3	transcript	ENST00000360358.3	protein_coding		2125		chr1	TogoVar
TLL1_chr4_165868237_166109457	166083164	GGAACTTT others(588): Show GGAACTTTCTTCACAGTTCATGGATTGATACCCCTTTTTCTTTAGGCAGG GTGGGAAAATAAGAAAGAAAGAATTTTTTTTCTTTTTTAAATTTATGTTC TCATTGACAGATAAAATTGCATGTATTTACCATGTACAATGTGATATATT GAAGTATATGTACATTGTTTAATGACTAAATTTAGCTAATTAATATATGT ATTATTCATGTTTTGATCATATTTGTGGGGAAAAAACACTTAACATCCAC TATCTTAGCATTTTTAAGAGTATATTATTAACTATAAGTCACCATGTTGT ATGATAGTTCTATTGAATTTATTCCTTCCATCTAACTGAAATTTTGTATT TTTTGACTGACATCTACTCAACCCTTTCCCATCTCAACCACCCTAGCCTT TGGTCAACACCATTCAACTCTCTGCTTCTTTAAGTTTGATCATTTTAGAT TCCACATGTAAGTGTGACCATGTAGTATTTATCTTTCTGTGCCTGGCTTG CTTTATTTAACATAATGTCCTGCGGTTTCACCCATGTTGTTACAAATGAC AAGATTTCCTTCATTTTGTGGCTGAATATTCCTCCACTGTGTATAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp2 others(62): Show HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG01099.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18952.hp2 NA18953.hp2 NA18966.hp2 NA18967.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18988.hp1 NA18989.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19075.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0001t0054 a0001c0001t0072 a0001c0001t0075 a0001c0003t0001 a0002c0002t0005 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0002t0013 a0002c0002t0043 a0002c0002t0074 a0005c0020t0012	a0001c0001t0001g0062 a0001c0001t0001g0093 a0001c0001t0001g0102 others(62): Show a0001c0001t0001g0062 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0125 a0001c0001t0002g0175 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0003g0048 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0004g0229 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0239 a0001c0001t0004g0250 a0001c0001t0007g0126 a0001c0001t0009g0213 a0001c0001t0009g0215 a0001c0001t0009g0231 a0001c0001t0015g0197 a0001c0001t0021g0209 a0001c0001t0054g0003 a0001c0001t0072g0246 a0001c0001t0075g0248 a0001c0003t0001g0166 a0002c0002t0005g0127 a0002c0002t0005g0195 a0002c0002t0005g0201 a0002c0002t0006g0031 a0002c0002t0006g0059 a0002c0002t0006g0098 a0002c0002t0006g0103 a0002c0002t0006g0168 a0002c0002t0008g0044 a0002c0002t0008g0049 a0002c0002t0008g0113 a0002c0002t0010g0217 a0002c0002t0010g0223 a0002c0002t0010g0230 a0002c0002t0010g0237 a0002c0002t0013g0210 a0002c0002t0013g0224 a0002c0002t0013g0225 a0002c0002t0013g0240 a0002c0002t0013g0247 a0002c0002t0043g0204 a0002c0002t0074g0226 a0005c0020t0012g0154	65	250	0.2600	-595	c.244 others(19): Show c.2442+5135_2442+5729del	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	18/20			chr4	TogoVar
TMEM132D_chr12_129066726_129909025	129855560	GGGGGAAC others(588): Show GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCAGGGGAACGG GATGGGTGCCCTTGTTACGGAGTCCGGGGGAACGGGATGGCTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCC CTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTAT AACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	94	0.0106	-595	c.79+ others(17): Show c.79+47106_79+47700del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TRPM2_chr21_44348621_44447644	44409672	GTGTAGCC others(588): Show GTGTAGCCTTGTAGTGAGTTTTGACCACACTGTCTTGGTTGGCGTAGACT TGTAGTAAGTTTTGACCACACTGTCTTGGTGTAGCCTTGTAGTAAGTTTT GACTGCACTCTCTTGGTTGGCATAGCCTTGTAGTAAGTTTTGACCGCACT GTCTTGGTGAGCGTAGCCTTGTAGTAAGTTTTGACCACACTGTCTTGGCG TAGACTTGTAGTAAGTTTTGACCGCACTGTCTTGGCGTAGCCTTGTAGTA AGTTTTGATCGTGCTGTCTTGGTTGGCGTAGCCTTGTAGTAAGTTTTGAC CTCACTCTCTTGGTTGGCGTAGCCTTGTAGTAAGTTTTGACCTCACTGTC TTGGTTGGCGTAGCCTTGTAGTAAGTTTTGATCGCGCTGTCTTGGTGAGC GTAGCCTTGTAGTAAGTTTTGACCACACTGTCTTGGTGAGCGTAGCCTTG TAGTAAGTTTTGACCGCACTGTCTTGGTGAGCGTAGCCTTGTAGTAAGTT TTGATCGCGCTGTCTTGGTTGGCATAGCCTTGTAGTAAGTTTTGACCGCA CTGTCTTGGTTGGCGTAGCCTTGTAGTGAGTTTTGACTGCACTGTC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp1 HG01099.hp1 others(16): Show HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01884.hp2 HG01981.hp2 HG02004.hp2 HG02273.hp1 HG02647.hp2 HG02698.hp1 HG03688.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18945.hp1 NA18966.hp2 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA20805.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0006 a0001c0010 others(3): Show a0001c0001 a0001c0006 a0001c0010 a0001c0012 a0006c0011 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0006t0002 a0001c0010t0001 a0001c0012t0001 a0006c0011t0001 a0009c0015t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0039 a0001c0001t0004g0021 a0001c0001t0006g0031 a0001c0001t0007g0017 a0001c0006t0002g0024 a0001c0010t0001g0028 a0001c0012t0001g0008 a0006c0011t0001g0010 a0009c0015t0002g0002	19	44	0.4318	-595	c.296 others(19): Show c.2962+2909_2962+3503del	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr21	TogoVar
VCX3A_chrX_6528618_6540118	6532732	CCACACAC others(588): Show CCACACACCACCTATTCCTTCCTTCTTTCCTTTCTCCCTCCCCACACACC TCCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTC CCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCT CCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02300.hp2 others(8): Show HG01074.hp1 HG01884.hp2 HG02300.hp2 HG02630.hp1 HG02809.hp1 HG02922.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG04199.hp1 NA18522.hp1	a0001 a0002 a0016 others(2): Show a0001 a0002 a0016 a0019 a0029	a0001c0001 a0002c0003 a0016c0017 others(2): Show a0001c0001 a0002c0003 a0016c0017 a0019c0026 a0029c0031	a0001c0001t0004 a0001c0001t0007 a0002c0003t0004 others(3): Show a0001c0001t0004 a0001c0001t0007 a0002c0003t0004 a0016c0017t0004 a0019c0026t0004 a0029c0031t0004	a0001c0001t0004g0003 a0001c0001t0007g0029 a0002c0003t0004g0009 others(4): Show a0001c0001t0004g0003 a0001c0001t0007g0029 a0002c0003t0004g0009 a0002c0003t0004g0010 a0016c0017t0004g0025 a0019c0026t0004g0024 a0029c0031t0004g0026	11	74	0.1487	-595	c.41 others(10): Show c.418_*1012del	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		885		chrX	TogoVar
ADARB2_chr10_1172313_1742525	1235638	CCCTCTGC others(587): Show CCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTT TCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGA GAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCC CACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGA TTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGAC GTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGT AGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGG CGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGA GTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCAC CAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGG GCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0082	1	106	0.0094	-594	c.136 others(19): Show c.1362-2387_1362-1794del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ANKMY1_chr2_240474422_240562988	240538660	GCAGTGAG others(587): Show GCAGTGAGGCACTGACGGGCACCTCCCCCAGTGGCCCTGGCGTGCGATCC ACTAGGCAAAGCCAGCTGAGCTCCTGAATCTAGTGGGGTCTTGGAGAACT TTTGTGTCTAGCTAAAGGATTGTAAATGCACCAGTCAGCACTCTGTGTCT AGCTCAAGGTTTGTAAGTGCACCAATCAGCACTCTGTGTCTAGCTTGGGG TTTGTGGATGCACCAATCAGTACTCTGTATCTAGCTAATCTGGTGGGGAC TTGGAGAACTTTTATGTCTAGCTAGAGGATTGTAAATGCACCAATCAGCA CTCTGTGTCTTGCTCAGGGATTGTAAACGCACCAATCAGCACTTTGTCAA AATGGACCGATCAGCTCTCTGTAAAATGGACCAATCAGCAGGATGTGGGT GGGGTCAGATAAGGGAATAAACGCAGGCTGCCTGAGGCAGCCAGTGGCAA CCCACTGGGGTCCCCTTCCACACTGTGAAAGCTTTGTTCTTTCGCTCTTT GCAATACATCTTTCTGCTGCTCACTCTTTGGGTCCGCACTGCGTTTATGA GCTGTTAACACTCACCGCAAAGGTCTGCAGCTTCACTCCTGAGGC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0303 a0001c0006t0002g0303	1	320	0.0031	-594	c.481 others(17): Show c.481-9745_481-9152del	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	4/17			chr2	TogoVar
ATP11A_chr13_112685038_112892168	112766828	GATGTGGG others(587): Show GATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAG TGCTGGGAGCCCCTGTGGAAAGGTGGGGAGATGTGGGGGTGTTGGGGGCC CCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAA GGTGGGGAGGATGTAGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGGAGG ATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTG TTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCC CCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGCCCCTGTAGGAAG GTAGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGAT GTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTT GGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCT GTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGT GGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01069.hp1 others(9): Show HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01243.hp2 HG01496.hp2 HG02738.hp1 HG04184.hp1 HG04184.hp2 NA19077.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0002c0010 a0003c0012 a0010c0037	a0001c0001t0001 a0001c0005t0020 a0002c0003t0002 others(3): Show a0001c0001t0001 a0001c0005t0020 a0002c0003t0002 a0002c0010t0022 a0003c0012t0005 a0010c0037t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0108 others(9): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0193 a0001c0005t0020g0144 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0183 a0002c0010t0022g0072 a0003c0012t0005g0207 a0010c0037t0001g0076	12	254	0.0472	-594	c.40- others(17): Show c.40-18306_40-17713del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29			chr13	TogoVar
CCDC77_chr12_396644_447642	421231	AATACACA others(587): Show AATACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCA TGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGT TCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTC CATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACAC ACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCAT TACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01952.hp1 HG02647.hp1 HG01891.hp2 HG01952.hp1 HG02647.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0002 a0003c0003t0004 a0001c0001t0004 a0003c0003t0002 a0003c0003t0004	a0001c0001t0004g0213 a0003c0003t0002g0374 a0003c0003t0004g0212 a0001c0001t0004g0213 a0003c0003t0002g0374 a0003c0003t0004g0212	3	432	0.0069	-594	c.413 others(17): Show c.413+2597_413+3190del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP46_chr10_132803392_132947570	132914028	CCCCGAGG others(587): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCC GAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19060.hp2 NA18952.hp2 NA19060.hp2	a0001 a0053 a0001 a0053	a0001c0001 a0053c0068 a0001c0001 a0053c0068	a0001c0001t0002 a0053c0068t0002 a0001c0001t0002 a0053c0068t0002	a0001c0001t0002g0031 a0053c0068t0002g0012 a0001c0001t0002g0031 a0053c0068t0002g0012	2	246	0.0081	-594	c.212 others(18): Show c.2121-1364_2121-771del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CNN2_chr19_1021608_1044065	1034392	CGGTGTCT others(587): Show CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGT GTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG GAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGT GGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	390	0.0026	-594	c.390 others(17): Show c.390+1697_391-1144del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6			chr19	TogoVar
DLGAP2_chr8_732628_1713476	990849	AGACCCCC others(587): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCACCTTACCCGGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTG CACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTACCCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02071.hp2 HG01496.hp1 HG02071.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0004 a0001c0012 a0002c0004	a0001c0012t0004 a0002c0004t0003 a0001c0012t0004 a0002c0004t0003	a0001c0012t0004g0036 a0002c0004t0003g0009 a0001c0012t0004g0036 a0002c0004t0003g0009	2	40	0.0500	-594	c.73+ others(17): Show c.73+82991_73+83584del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH7_chr9_137549444_137583925	137567312	ACTCTGTC others(587): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01169.hp1 others(5): Show HG01074.hp1 HG01109.hp2 HG01169.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02293.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0278 a0001c0001t0002g0279 others(4): Show a0001c0001t0002g0018 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0289 a0001c0001t0002g0296	8	340	0.0235	-594	c.641 others(17): Show c.641-2752_641-2159del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ERC1_chr12_986223_1500931	1121843	CTCTATCT others(587): Show CTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTAT CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCT CTATCTATCTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0074 a0001c0001t0071g0074	1	162	0.0062	-594	c.156 others(19): Show c.1569+5812_1569+6405del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAL3ST2_chr2_241771822_241809287	241805446	CTCCCCCC others(587): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	314	0.0032	-594	c.12 others(11): Show c.1281_*1874del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1160		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805560	TCCCCCCT others(587): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	314	0.0032	-594	c.13 others(11): Show c.1395_*1988del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1274		chr2	TogoVar
GRTP1_chr13_113319163_113369130	113346222	CTGAGAAC others(587): Show CTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGATCCGGGAGG ACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGAC CCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACCTCTGTGGCT GAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCAGACCTGGGAAGACAT CTGTGGCCGAGAACAGACCCAGGAGGACCTCTGTGGACAAGAGCAGACCC GGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAA GAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCT CTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCC GGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGA GCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCT GTGGCTGAGAGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGG GAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19091.hp1 NA18966.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0204 a0001c0001t0001g0205	2	288	0.0069	-594	c.466 others(17): Show c.466-1857_466-1264del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346351	CCCAGGAG others(587): Show CCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGC TGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAGGACC TCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAA AGAGCAGACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACC TGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAG AGCAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCAAAGAGCAGACCCG GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGGACAAG AGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTC TGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGAT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	288	0.0035	-594	c.466 others(17): Show c.466-1986_466-1393del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSTA2_chr6_52745087_52768475	52761464	TTTGTCCG others(587): Show TTTGTCCGTAGAACTCTAGTAGGAATAAGATTTTATATGAATCCAGACTT ATATCAAATCTGTCATATGATGGCTCTCTGTTTCTCTCTCTCTTTGCTTT TTAGCTCCTGTACAGAGGTCAATGATATTCACTAATCAGCCCACCTGGAT TAACAGGAAGTTTTCAGTGAATGTCCAAGCAGTGGGGCACATCGGTAACA CAGCCTTGCTTAGCCCCATGAGGTCATGTAGTCCCATGGTTCTCAACCAG GGGGATTTTGTTCCTCTGCTCCAGAGGACATTGAGCAAGGTCTAGAGACA TTTTGGGTTGCTATATCTGCAGAGAGGGAGGGGGGCTACAAATCAGATAG GTAGAGGGCAGGGATGTGTGGGGAAAAGAAAGAGAGATCAGACTGTTACT ATGTCTATGTAGAAAGAAGTAGACATAAGAGACTCCATTTTGTTCTGTAC TAAGAGAAATTCTTCTGCCTTGAGATGCTGTTAATCTGTAACCCTACCCC CAGCCCTGTGCTCACAGAAACATGTACTGTGTGGACTCAAGGTTTAATGG ATTTAGGGCTATGGAGGATGTGCTTTGTAAACAAATGCCTGAAGG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG00741.hp2 others(14): Show HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02148.hp1 HG02273.hp1 NA18946.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0124 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126	17	440	0.0386	-594	c.-31 others(17): Show c.-31+1386_-31+1979del	GSTA2	ENSG00000244067.3	transcript	ENST00000493422.3	protein_coding	1/6			chr6	TogoVar
INPP5A_chr10_132532787_132788480	132771775	GGGACGGA others(587): Show GGGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGCCCCGTGAA GAGTGGGGCACTCAGCACTGACACGGAGGCCACAGCAGCCACCCCGCGAA GAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGA TGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCAC CCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAG CCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACA GCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGC CACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAG AGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGAC ACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCAC TGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCA GCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	204	0.0049	-594	c.978 others(17): Show c.978-5891_978-5298del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
LGI1_chr10_93752936_93803159	93786144	GAGGGCCT others(587): Show GAGGGCCTGAAACCGCATGAGAGTTTTCTAGGAAACAGGCAGCTCCCCGC TGCAGGAGGTCTTGTGAAAGACATTTGCATGACCTGACCACTCAGGCCCC CGAGTTCGGTAATTCCTAATCTAACCCTGTAGGTAGCTTTGGAACTTGAC AAATGCAGCCAAACGATTGATTTCGAATGACTGAACCCTCATTGGACAGA ACCATAGATATATACAAATACTAAGCAACAGGATCCTTTCAAAAAGTCAA CTTTATTCTTTGTTTCTTCTGATTATAAAATAATAATACATGCTTGATGA TAAAAACTCACAACATAAATATGTATTTACACAGAAAAGTGAAAGATTCC AGTAACCCTACACCTACCTCATTTTTAAAATCTCCTACAAAATATTCCGT GTTACATATGGACCATAGTTTATTTACATGATCCCTTATATCTCTTTGTT GTTGTTGTTGTTGTTGTTTTTGAAACAAGGTCTCACTCTGTCACCCAGGC TGGAGTGCAGTGGTATGATCATGGCTCACTGCAGCCTCAAGTTCTAGGCT CAAGCCATCCTCCAACCTCAGCCTCCCAGAGTAACTAGGACCACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(285): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0007 a0001c0001 a0001c0003 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(225): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0157 a0001c0001t0003g0001 a0001c0003t0001g0067 a0001c0003t0001g0068 a0004c0007t0001g0057	288	376	0.7660	-594	c.432 others(17): Show c.432-3954_432-3361del	LGI1	ENSG00000108231.14	transcript	ENST00000371418.9	protein_coding	4/7			chr10	TogoVar
MCF2L_chr13_112964214_113104742	113068180	AGCTGGAG others(587): Show AGCTGGAGTGCCAGCTACTTGGAGGCAGAGGTCGCAGTGAGCCGAGATTG CACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGGAGGCAGAGGTCG CAGTGAGCCGAGATTGCACCTGGGTGGTGCAACGCTGGAGTGCCAGCTAC TCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTGCCAGCTACTCGGAGGCAGAGGTCGCA GTGAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACTC GGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAGCT GGAGTCCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACC TGGGTGGTGCACAGCTGGAGTGCCAGCTACTTGGAGGCAGAGGTCGCAGT GAGCCGAGATTGCACCTGGGTGGTGCACAGCTGGAGTCCCAGCTACGCGG AGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCAAC	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	116	0.0086	-594	c.882 others(17): Show c.882-1860_882-1267del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
NEU4_chr2_241804193_241822413	241805446	CTCCCCCC others(587): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGG CAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	319	0.0031	-594	c.-38 others(11): Show c.-3831_-3238del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3746		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805560	TCCCCCCT others(587): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	319	0.0031	-594	c.-37 others(11): Show c.-3717_-3124del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3632		chr2	TogoVar
PCBP3_chr21_45638725_45947450	45923781	TGAGTGGA others(587): Show TGAGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGC GAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGC ACACGTAAGATCAGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCG AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGA ACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGT GCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGGTCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCG TGGGTAGAAACAGCACACGTAAGGTCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGC GTGAGGAGATGCGAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0215 a0001c0002t0009g0215	1	292	0.0034	-594	c.718 others(17): Show c.718-6068_718-5475del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PPP6R2_chr22_50338327_50450090	50344686	CCCCCTAG others(587): Show CCCCCTAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCC TCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGT CAGTGCCCCCTCCAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTCTAGTCA GTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGC CCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCC CCCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCCCAGTCAGTGCCTCCTCC AGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAG TGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCC CCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAG TCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCCCCTCCAGTCAG TTCCCCCCCAAGTCAGTGCCCCCTCCAGTCAGTTCCCCCAGTCAGTGCCC CCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0008 a0009c0016t0008	a0009c0016t0008g0221 a0009c0016t0008g0222 a0009c0016t0008g0221 a0009c0016t0008g0222	2	340	0.0059	-594	c.-14 others(19): Show c.-148+1141_-148+1734del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000503	AATCAGCC others(587): Show AATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGG GAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGA ATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGG AGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTA TCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGA GTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAAT CAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAG TGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATC AGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGT GCAGGTCCAAGCACCAGGCTGAAGTGAGGCTCGTGGAGGTAACAGTATCA GCCTCAGGGCCTTCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTG CAGGTCCAAGCTCCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp2 HG02004.hp1 others(6): Show HG01070.hp2 HG01106.hp2 HG02004.hp1 HG02109.hp2 HG03098.hp2 HG04115.hp1 HG04228.hp2 NA18985.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0002c0003	a0001c0001t0003 a0001c0001t0049 a0001c0001t0097 others(6): Show a0001c0001t0003 a0001c0001t0049 a0001c0001t0097 a0001c0002t0029 a0001c0005t0030 a0001c0005t0039 a0001c0009t0020 a0002c0003t0060 a0002c0003t0108	a0001c0001t0003g0159 a0001c0001t0049g0202 a0001c0001t0097g0095 others(6): Show a0001c0001t0003g0159 a0001c0001t0049g0202 a0001c0001t0097g0095 a0001c0002t0029g0056 a0001c0005t0030g0196 a0001c0005t0039g0001 a0001c0009t0020g0138 a0002c0003t0060g0170 a0002c0003t0108g0102	9	218	0.0413	-594	c.120 others(19): Show c.1200+2207_1200+2800del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000668	ACCAGGCT others(587): Show ACCAGGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCT TCCTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCA CCAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTT CCTGATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCAC CAGGCTGAAGTGGGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTC CTGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACC AGGCTGAAGTGAGGCTCGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCC TGATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCA GGCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCT GATGCCGGAGAAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAG GCTGAAGTGAGGCTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTG ATGCCGGAGAAGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01361.hp1 HG02451.hp2 others(5): Show HG01358.hp1 HG01361.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02970.hp1 HG03486.hp2 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0002c0008 a0002c0012	a0001c0001t0077 a0001c0001t0089 a0001c0001t0139 others(5): Show a0001c0001t0077 a0001c0001t0089 a0001c0001t0139 a0001c0002t0117 a0001c0004t0017 a0001c0010t0056 a0002c0008t0130 a0002c0012t0110	a0001c0001t0077g0006 a0001c0001t0089g0081 a0001c0001t0139g0045 others(5): Show a0001c0001t0077g0006 a0001c0001t0089g0081 a0001c0001t0139g0045 a0001c0002t0117g0123 a0001c0004t0017g0002 a0001c0010t0056g0018 a0002c0008t0130g0135 a0002c0012t0110g0040	8	218	0.0367	-594	c.120 others(19): Show c.1200+2405_1200+2998del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000781	GGGCTCGT others(587): Show GGGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAG AAGGGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGG GGCTCGTGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGA AGGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAG GCTCGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAA GGGACAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGG CTGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAG GGGCAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGAGGC TGGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGG GACAGAAGAAGCAGGGAGTGCAGGTCCAAGCTCCAGGCTGAAGTGAGGCT GGTGGAGGTAACAGTATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGG ACAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	218	0.0046	-594	c.120 others(19): Show c.1200+2460_1200+3053del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114083824	ACGGGGAA others(587): Show ACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	67	0.0149	-594	c.56- others(16): Show c.56-10581_56-9988del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086362	CCGGGGAA others(587): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCC TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	67	0.0149	-594	c.56- others(17): Show c.56-13119_56-12526del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114086661	CTCCCTTC others(587): Show CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	67	0.0149	-594	c.56- others(17): Show c.56-13418_56-12825del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RPTOR_chr17_80539838_80971368	80743695	CCCTGGCT others(587): Show CCCTGGCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAGC AGAGCCCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACGAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTA TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01167.hp1 others(7): Show HG00140.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01361.hp2 HG01517.hp1 HG01934.hp2 HG02258.hp1 HG02683.hp1 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0011 others(4): Show a0001c0004 a0001c0010 a0001c0011 a0001c0015 a0001c0021 a0001c0027 a0001c0033	a0001c0004t0014 a0001c0004t0023 a0001c0010t0056 others(7): Show a0001c0004t0014 a0001c0004t0023 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0015t0046 a0001c0021t0079 a0001c0027t0016 a0001c0027t0096 a0001c0033t0023	a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0010t0056g0183 others(7): Show a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0047g0076 a0001c0015t0046g0079 a0001c0021t0079g0005 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0033t0023g0075	10	196	0.0510	-594	c.655 others(18): Show c.655-10299_655-9706del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744358	CTGTCCTG others(587): Show CTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACT AGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCC TGGTTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACT GTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAG CACAGCCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTTA CGAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTG GCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGT CCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCA CTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACT AGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGC TACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGTTACTAGCAG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0020 a0002c0063t0020	a0002c0063t0020g0001 a0002c0063t0020g0001	1	196	0.0051	-594	c.655 others(17): Show c.655-9651_655-9058del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar
SCML4_chr6_107697154_107829313	107710136	GATGAGAG others(587): Show GATGAGAGCTAAGTTTGAGAGCTCTTCCTTGTCTCTCATCCAAGATATAA TCACCAAGAGCTATAAAGAGGTTTTGGATAACAAAAGCTTCCTGACTTGG GCATTTAACAAGACACACTGTAGAATTCCCAGCCACAACTAGGTCCAAGA TTCAGAATCAAGAAACGAAGTCAATCTGATATTGCTATTACAACCCAAAT GCCTCCTGTGGTTGGATTTTTATTTGATAGGGCCTGGCATTGGGTGAGGG ATGGAGACAATTTAGCTAGAAAAAGAAGAATGAGAACAGCATTGTATGTG AGGAGGTGAAGCGGACAAAAGCATGGCAAGAGCTGATTAATTAAAGAGTT TGTGTAGGGGCCAGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG GAGGCAGAGGTGGGCGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCCA GTCAATATGGTGAAACCCCGTCCCTACTAAAAATACAAAAATTAGCTGGG TGTGGCGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTCGA GAATCGCTTGAACCTGGGAGGTGGAGGTTGCATTGAGCCGAGATC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp1 others(179): Show HG00140.hp1 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0011 a0002c0004 a0002c0014 a0002c0016 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0002t0009 a0001c0002t0010 a0001c0003t0012 a0001c0003t0015 a0001c0005t0005 a0001c0005t0011 a0001c0005t0017 a0001c0005t0018 a0001c0005t0030 a0001c0008t0001 a0001c0008t0008 a0001c0009t0001 a0001c0009t0006 a0001c0011t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0006 a0002c0004t0009 a0002c0004t0014 a0002c0004t0020 a0002c0004t0028 a0002c0014t0011 a0002c0016t0011 a0004c0013t0006	a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0070 others(179): Show a0001c0001t0001g0010 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0170 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0093 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0080 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0126 a0001c0001t0003g0189 a0001c0001t0004g0054 a0001c0001t0004g0110 a0001c0001t0004g0146 a0001c0001t0004g0172 a0001c0001t0004g0188 a0001c0001t0004g0191 a0001c0001t0004g0196 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0208 a0001c0001t0004g0215 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0222 a0001c0001t0004g0233 a0001c0001t0004g0246 a0001c0001t0006g0022 a0001c0001t0006g0025 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0071 a0001c0001t0006g0077 a0001c0001t0006g0094 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0122 a0001c0001t0006g0138 a0001c0001t0006g0157 a0001c0001t0008g0169 a0001c0001t0008g0176 a0001c0001t0008g0183 a0001c0001t0008g0190 a0001c0001t0008g0203 a0001c0001t0008g0213 a0001c0001t0008g0223 a0001c0001t0008g0226 a0001c0001t0008g0229 a0001c0001t0008g0239 a0001c0001t0008g0244 a0001c0001t0010g0083 a0001c0001t0010g0084 a0001c0001t0013g0011 a0001c0001t0013g0050 a0001c0001t0013g0068 a0001c0001t0013g0118 a0001c0001t0013g0120 a0001c0001t0013g0124 a0001c0001t0013g0156 a0001c0001t0014g0009 a0001c0001t0014g0042 a0001c0001t0014g0125 a0001c0001t0014g0128 a0001c0001t0019g0075 a0001c0001t0019g0137 a0001c0001t0021g0013 a0001c0001t0023g0112 a0001c0001t0024g0088 a0001c0001t0025g0119 a0001c0001t0027g0143 a0001c0002t0009g0104 a0001c0002t0010g0008 a0001c0002t0010g0049 a0001c0002t0010g0129 a0001c0002t0010g0134 a0001c0002t0010g0148 a0001c0003t0012g0107 a0001c0003t0012g0130 a0001c0003t0012g0131 a0001c0003t0012g0132 a0001c0003t0012g0133 a0001c0003t0012g0135 a0001c0003t0012g0136 a0001c0003t0012g0144 a0001c0003t0015g0123 a0001c0003t0015g0160 a0001c0003t0015g0161 a0001c0003t0015g0162 a0001c0005t0005g0181 a0001c0005t0011g0061 a0001c0005t0011g0081 a0001c0005t0011g0098 a0001c0005t0011g0099 a0001c0005t0011g0102 a0001c0005t0011g0171 a0001c0005t0017g0195 a0001c0005t0017g0224 a0001c0005t0018g0205 a0001c0005t0018g0212 a0001c0005t0030g0079 a0001c0008t0001g0003 a0001c0008t0001g0069 a0001c0008t0001g0250 a0001c0008t0008g0111 a0001c0009t0001g0139 a0001c0009t0006g0063 a0001c0009t0006g0066 a0001c0011t0001g0004 a0001c0011t0001g0072 a0002c0004t0001g0020 a0002c0004t0002g0237 a0002c0004t0003g0034 a0002c0004t0003g0090 a0002c0004t0004g0184 a0002c0004t0004g0225 a0002c0004t0004g0236 a0002c0004t0005g0241 a0002c0004t0006g0028 a0002c0004t0009g0095 a0002c0004t0009g0096 a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0004t0020g0243 a0002c0004t0028g0086 a0002c0014t0011g0027 a0002c0016t0011g0024 a0004c0013t0006g0037	182	250	0.7280	-594	c.974 others(17): Show c.974-2719_974-2126del	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	6/7			chr6	TogoVar
SCUBE1_chr22_43192280_43348372	43280861	CTCCTCAG others(587): Show CTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTC CTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTT TGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGG CCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCA TCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCA CCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCC TGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTG TCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCA TCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCT CCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCT CCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCC TCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCT	C C	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0181 a0001c0004t0004g0181	1	280	0.0036	-594	c.484 others(18): Show c.484+9591_484+10184del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)