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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⚠️ 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
SPIRE2_chr16_89823475_89876319	89834088	GCTCGCGG others(587): Show GCTCGCGGTTGGCCGTCGTAGAAGCATGGATAAGCATAGCCCGTGTGAAT CTGTGAACCTGCCTGCGCTCGCGGTTGGCCGTCGTAGAAGCCTGGATAAG CATAGCCCGTGTGAATCTGTGAACCTGCCTGTGCTCACGGTTGGCCGTCG TAGAAGCATGGATAAGCATAGCCCGTGTGAATCTGTGAACCTGCCCGCGC TCGCGGTTGGCCGTCGTAGAAGGCCCCATAAGCATAGCCCGTGTGAATCT GTGAACCTGCCTGTGCTCACGGTTGGCCGTCGTAGAAGCCTGGATAAGCA TAGCCCGTGTGAATCTGTGAACCTGCCCGCACTCGCGGTTGGCCATCGTA GAAGCCTGGATAAGCATAGCCCGTGTGAATCTGTGAACCTGCCCGCACTC GCGGTTGGCCATCGTAGAAGTGTGGATAAGCATAGCCCATGTGAATCTGT GAACCTGCCCGCATTCGCGGTTGGCCGTCGTAGAAGGCCCCATAAGCATA GCCCGTGTGAATCTGTGAACCTGCCCGCACTCGCGGTTGGCCGTTGTAGA AGCCTGGATAAGCATAGCCCGTGTGAATCTGTGAACCTGCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(30): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG01993.hp1 HG02071.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0018 a0003c0005 a0001c0001 a0001c0018 a0003c0005	a0001c0001t0001 a0001c0001t0010 a0001c0018t0012 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0018t0012 a0003c0005t0001	a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 others(30): Show a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0347 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0010g0348 a0001c0018t0012g0346 a0003c0005t0001g0295 a0003c0005t0001g0296 a0003c0005t0001g0297 a0003c0005t0001g0298 a0003c0005t0001g0299 a0003c0005t0001g0300 a0003c0005t0001g0301 a0003c0005t0001g0304 a0003c0005t0001g0309 a0003c0005t0001g0310 a0003c0005t0001g0311 a0003c0005t0001g0312	33	356	0.0927	-594	c.244 others(17): Show c.244+5319_244+5912del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIP13_chr5_887884_923120	897411	TCAGTCAG others(587): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02559.hp1 others(5): Show HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02818.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0010 a0001c0001t0002g0057 a0001c0001t0002g0058	8	402	0.0199	-594	c.388 others(16): Show c.388+683_388+1276del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	897873	GCAGTCAG others(587): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAG TCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGC CCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGG CTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACA GGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03942.hp2 HG03831.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	402	0.0050	-594	c.388 others(17): Show c.388+1211_388+1804del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBOX5_chr20_3102573_3164865	3104282	AAACTCCT others(587): Show AAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGG GATTACAGTGGCTCGATCTCGGCTCACTGCAACCTCTGCTTCCCAAGCTC AAGTGATTCTCTTGCCTTGGCCTTCTGAGTAGCTGGGACTACAGGCATGC ACCACCATGCCTGGCTAATTTTTGTATTTTTTTTAGAGACAGGGTCTCCC TGTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAATGATTCTCCCTC CTTGGCCTCCCAAAGAGTTGGAAGTACAGGCGTGAGCCACCACGCCCGGC TGTTTTTTTTGTTTGTTCTATTTTGTTTCTTAAGGTAGTCAAATCTATCA GTCTTTTTCCTTACTGAATCTGAATTTTTTTGTTTGTTTGTTTTAGATGG AGTTTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTCGGCTCC CTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCCACGTCAGCCTCCT GAGTAGCTGGGATTACAGGCACCCGCCACGACGCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02293.hp1 HG02572.hp2 others(5): Show HG02055.hp2 HG02293.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02886.hp1 HG02976.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0015 a0001c0002t0026 a0001c0002t0034 others(2): Show a0001c0001t0015 a0001c0002t0026 a0001c0002t0034 a0003c0004t0014 a0003c0004t0017	a0001c0001t0015g0356 a0001c0002t0026g0363 a0001c0002t0026g0364 others(4): Show a0001c0001t0015g0356 a0001c0002t0026g0363 a0001c0002t0026g0364 a0001c0002t0034g0362 a0003c0004t0014g0160 a0003c0004t0017g0009 a0003c0004t0017g0159	8	384	0.0208	-594	c.52 others(11): Show c.5230_*5823del	UBOX5	ENSG00000185019.17	transcript	ENST00000217173.7	protein_coding		3290		chr20	TogoVar
ADARB2_chr10_1172313_1742525	1237965	TACTCCCC others(586): Show TACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTT ACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTAC TCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCC CCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTA CTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0092 a0001c0001t0059g0092	1	106	0.0094	-593	c.136 others(19): Show c.1361+3573_1362-4121del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
DGKB_chr7_14140049_14907751	14211835	TTACTCTC others(586): Show TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC GTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTT GTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATT TACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCT CATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTT TACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTA CTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	148	0.0068	-593	c.212 others(21): Show c.2123-34277_2123-33685del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
H6PD_chr1_9229774_9276337	9259770	ACATTGTT others(586): Show ACATTGTTGTTACACCAGTGTTGTTATGTTGCTGTTGTTACGGTGGTGTT ATGTTGTTATGCTGGTGTTGTTTTGTTGTTGTTATGCTGGTGTTACGCCG GTGTTATGTTGTTGTTACACCAGTGTTATGTTGCTGTTGTTACGCCAGTG TTGTTACGTTGTTGTTATGCTGGTGGTGTTATGTTGCTGTTGTTACTCTG CTGTTATGTTGTTGTTACACTGGTATTATGTTACTGTTGTTATGTTGTTA TGCTGGTGTTGTTGCACTGCTGTTATGCTGGTGTTATGTTGTTACTCCGG TGTTGTTACGTTGCTGTTGTTACGCCGGTGTCGTTATGTTGTTACGCCAG TGTTGTTACGTTGCTGTTAGCTGGTGTTATATTGCTGTTGTTAAGCTGGT GTTATGTTGTTGTTATGCTGGTGTTGTTACATTGCTGTTGACACTGGTGT TGCTGTTGTTACGCCAGTGTTATGTCGTTACACCAGTGCTGTTATGTTGT CGTTACGCCAGTGCTGTTATGTTGCTGTTGTTACGCCAGTGTTGTTATAT TGTTGTTACACCAGTGTTATGTTGCTGTTGTTACACTGGTGTTG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	404	0.0025	-593	c.746 others(17): Show c.746-2194_746-1602del	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP5K_chr17_1489577_1521612	1500600	CGTGATCT others(586): Show CGTGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGATTACAGGCGTGAGC CACCGCGCCCGGCCACTGAAACATTTTATACCAGTATTATACGATTACAC TACATTGCAATTTTCTGTTTCCCACTCAGCATGTCACTTAGGTGTAAGCC CTGAAGGCAAGGACTTAGCTGTTGGAGTGTCCTGTGTATCCTCAGCATTA GCACAGATCCTGGCACACAGGTACTCAATAACCAGGTACACTTACTAAAA ACCCAAGCTGAAGCTCGTCCCTCAAAAATGTCCGTCTAATCTTAATGTTT ACAGCTCCATATACTCGCAGTTGGAAACACTATTTTTGTCTCCTTCTTTA TTCAACTGCTTTTTTTTTTTTTTTTTTTTAAGACGGAGTCTCGCTATCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTC CCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTAT AGGCGTTGAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACT GGGTTTCACCATGCTGGCCAGGCTGGTCTTGAACTCCTGACCTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0202 a0002c0003t0001g0202	1	420	0.0024	-593	c.777 others(17): Show c.777-3071_777-2479del	INPP5K	ENSG00000132376.20	transcript	ENST00000421807.7	protein_coding	7/11			chr17	TogoVar
PDE6C_chr10_93607537_93671010	93656595	GGTCTCAC others(586): Show GGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACAACCTCGGGTCA CTGCAATCTCGGCCTCCAAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGACTTCAGTCTCCCACCACCACATCTGGCTAATTTTTATA TTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTC CCGACCTCAACTGATCTGCCCACCTGGCCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCGTTGCACTGGGCCTGAATATTTAATTATTAAATAGTTCA ATGTGAAGACAAATACTAAGAATAATAAAATGGATATCCAAATATCTATA GCCTAAATTTAACAAATGCGAAATTTTGCCATATTTGCCTCAGATTTTGC TTTATAAGGAGAAAAAAACTAGTGATGCAATTGAGGTATTCCACCCCTAC TCCACTATGAAAAATCCCTTCCCTTCTTCCACAAAGATATCACCGTCTGA CGTTGATGTGTATTCATAATTTCCATCCATGTTTTTATATGGTATTGTTG TGTGTTGTTTTTTTTGTTTGGTTTCTTGGTTTTTTTGCGACGGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02132.hp1 HG02135.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0265 a0001c0001t0001g0354 a0001c0001t0001g0121 a0001c0001t0001g0265 a0001c0001t0001g0354	3	384	0.0078	-593	c.203 others(18): Show c.2036+752_2036+1344del	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
SENP2_chr3_185581295_185638551	185601265	GAACTCCT others(586): Show GAACTCCTGACCTCAGGTAATCCACCCACCTTGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCGCACCTGGCCTTACATTTTCTACTGTATTA TATGCCCATAGCATCTGATTTTGAAAATTGTTTTAGAAAGAATTGCCACT TACTTTATTCTCAACTTAAAAATATAATTATGCATACAGAAAAGTGCTGA AATTATAAGTGTACGTGGCCTGGTTAATTTTCATACACTGGTCATATCCA TCAGTTGTAAAATGTTATTATTAATAGTTTTCTTACTTTCCTTTGTAGAA TTTTTATTGCTTGGACATTAGACCTTCTAGATTGATCTAATTTTCCCATA CATTCTCTCCTTTTGTTGTTCTTGCTTTTTTTTTTTTTTTTTTTGAGATG GGGTCTTGCTCTGTCACCCAGGCAGTTTGGTGGCACAGTCTTGGCTCACT GCAGCCTCCGCCTCCTGGGTTCAAGCAATTTTCCCACCTCAGCCTCTTGA GTAGCTGGGCTTACAGGGGCGTGCCACCATGCCCAGCTATTTTTTGCATT TTTAGTAGACACAAGGTTTCACCATGTTGGCCAGGCCAGTCTCA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0062 a0001c0001t0031g0062	1	360	0.0028	-593	c.449 others(16): Show c.449+441_449+1033del	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
TUBGCP2_chr10_133273635_133313872	133291243	GTGTCCCC others(586): Show GTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGT CCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTC CCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCAT GTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCC TACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCT CCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTG TACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGT CCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGG AGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGT GTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp1 NA20300.hp2 HG02622.hp2 HG03471.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0022 a0002c0003 a0001c0002 a0001c0022 a0002c0003	a0001c0002t0007 a0001c0022t0001 a0002c0003t0002 a0001c0002t0007 a0001c0022t0001 a0002c0003t0002	a0001c0002t0007g0030 a0001c0022t0001g0124 a0002c0003t0002g0081 a0001c0002t0007g0030 a0001c0022t0001g0124 a0002c0003t0002g0081	3	284	0.0106	-593	c.121 others(18): Show c.1214+663_1214+1255del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
YBEY_chr21_46281342_46302751	46293100	TCCCGCGG others(586): Show TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACAC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	404	0.0025	-593	c.339 others(17): Show c.339+1641_339+2233del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADGRA1_chr10_133082924_133136675	133136066	TTCTGGTC others(585): Show TTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTTGTCTCTGGGTCTCTGTGG GGGGGTCTGGTCTCTGGGTCCCTGTGGAGGCGGCTGGTCTCTGGGTCCCT GTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTC TGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTCTG GGTCCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTC TCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGG GTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTT CTGGTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCCTGTGGGG GGGTTCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTG TGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCC CTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGG TCCCTTTGGGGGGGTCCTGGTCTCTGGGTCCCTGTGGGGGCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00639.hp2 others(33): Show HG00323.hp1 HG00408.hp1 HG00639.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp2 HG02486.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG03927.hp1 HG04228.hp1 NA18962.hp1 NA18970.hp2 NA18971.hp1 NA18999.hp2 NA19002.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0018	a0001c0001t0002 a0001c0003t0004 a0001c0003t0009 others(11): Show a0001c0001t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0015 a0001c0003t0026 a0001c0003t0041 a0001c0003t0042 a0001c0004t0004 a0001c0004t0009 a0001c0004t0015 a0001c0004t0032 a0001c0004t0056 a0001c0009t0004 a0001c0018t0004	a0001c0001t0002g0076 a0001c0003t0004g0001 a0001c0003t0004g0008 others(28): Show a0001c0001t0002g0076 a0001c0003t0004g0001 a0001c0003t0004g0008 a0001c0003t0004g0203 a0001c0003t0004g0205 a0001c0003t0004g0232 a0001c0003t0004g0233 a0001c0003t0004g0236 a0001c0003t0004g0238 a0001c0003t0004g0240 a0001c0003t0004g0244 a0001c0003t0009g0242 a0001c0003t0009g0295 a0001c0003t0009g0299 a0001c0003t0015g0059 a0001c0003t0015g0068 a0001c0003t0026g0224 a0001c0003t0026g0230 a0001c0003t0041g0026 a0001c0003t0042g0029 a0001c0004t0004g0007 a0001c0004t0004g0119 a0001c0004t0004g0148 a0001c0004t0004g0193 a0001c0004t0009g0281 a0001c0004t0009g0305 a0001c0004t0015g0142 a0001c0004t0032g0009 a0001c0004t0056g0312 a0001c0009t0004g0004 a0001c0018t0004g0237	36	368	0.0978	-592	c.65 others(11): Show c.6556_*7147del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4392		chr10	TogoVar
ATP10A_chr15_25673712_25868327	25757885	CCTAACTC others(585): Show CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGACCACCTGATCCACCCTAACTCATTCCAATCACCTGCT CCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	300	0.0033	-592	c.655 others(19): Show c.655-22336_655-21745del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	TCAGGTGC others(585): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04204.hp1 HG00738.hp1 HG04204.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0039 a0003c0006t0002 a0003c0006t0039	a0003c0006t0002g0153 a0003c0006t0039g0148 a0003c0006t0002g0153 a0003c0006t0039g0148	2	248	0.0081	-592	c.226 others(19): Show c.2268-3997_2268-3406del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137567844	ACTCTGTC others(585): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	340	0.0029	-592	c.641 others(17): Show c.641-3282_641-2691del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GALNT9_chr12_132191372_132334589	132304873	ACACACCC others(585): Show ACACACCCTCACCGGGGCACACCCTCGCCCGGACACGCCCTCACCGGGGC ACACCCTCACCCAGACACGCCCTCACCCAGACACGCCCTCACCCGGGCAC ACCCTCACCCGGGCACACCCTCACCCGGGCACATCCTCACCGGGGCACAC CCTCACCCAGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCC TCACCTGGGCACACCCTCACCCGGGCACAGCCTCACCCAGACACGCCCTC ACCCGGGCACAGCCTCGCCCGGGCACACCCTCGCCTGGGCACAGCCTCGC CCGGGCACACGCTCACCCAGACACACCCTTGCCCGGGCACACCCTCGCCC GGACACACCCTCACCCGGGCACAGAATCGCCCAGACACACCCTCACCGGG GCACACCCTCGCCCGGACACGCCCTCACCGGGGCACACCCTCACCCAGAC ACGCCCTCACCCAGACACGCCCTCACCCGGGCACACCCTCACCCGGGCAC ACCCTCACCCGGGCACATCCTCACCGGGGCACACCCTCACCCGGGCACAC CCTCACCCGGGCACAGAATCGCCCAGACACAGCCTGACCTGGG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0176 a0001c0008t0002g0176	1	183	0.0055	-592	c.239 others(19): Show c.239-19035_239-18444del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
IL3RA_chrX_1331785_1387689	1366247	GGTGAGCC others(585): Show GGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGA GCGGGGTGCGCGGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGAGCCGG GTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAG CGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGG TGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCC CGGGTGAGCGGGGTGCGCGGGGTGAGCCCGGTGAGCCGGGTGCGCGGGGT GAGCCGGGTGCGCGGGGTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGCG GTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAG CGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGG TGCGCGGGGTGAGCGGGGTGCGCGGAGTGAGCGGGGTGCGCGGGGTGCGC GGCGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGT GCGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGC	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	115	0.0087	-592	c.874 others(17): Show c.874+1020_874+1611del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366272	CGGGTGAG others(585): Show CGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGT GAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTG CGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGG GGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGCGCGGGGTGA GCCCGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCCGG GTGAGCGGGGTGAGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCGCG GGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTG AGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGG AGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGC GCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCGGG GTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGCGGGGTGAGCG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	115	0.0087	-592	c.874 others(17): Show c.874+1026_874+1617del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
YBEY_chr21_46281342_46302751	46293563	CGTGCCCG others(585): Show CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACG CAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	404	0.0025	-592	c.339 others(17): Show c.339+2130_340-1979del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADAMTS2_chr5_179105853_179350461	179277417	GCGAGACC others(584): Show GCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCCCC CGAGACCAAAGGCTGACCCCCCACCCGAGACCAAAGGCTGACACCCCCCA GAGACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAAA CCAAAGGCTGACCCCCCACCCGAGACCAAAGGCTGACACCCCCCAGAGAC CAAAGGCTGACCCCCCCGAGACCAAAGGCTGACACCCCCCAGAGACCAAA GGCTGACACCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCT GAACCCCCCCGAGACCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACC GCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCC CCCGAGACCAAAGGCTGAACCCCCCGTGAGACCAAAGGCTGACCCCCCCT GAGACCAAAGGCTGACCCCCCTGCGAGACCAAAGGCTGACCCCCCCCCGA GACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACCCCCTCCAAGACC AAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0002 a0014c0038t0002	a0014c0038t0002g0219 a0014c0038t0002g0219	1	276	0.0036	-591	c.535 others(17): Show c.535-4944_535-4354del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1235645	CCTCCCGG others(584): Show CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTG ATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCAC CACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCT GTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCCA GTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCT GAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGG CCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACG GCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCA GCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGT GAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGA ACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	106	0.0094	-591	c.136 others(19): Show c.1362-2391_1362-1801del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ARHGAP28_chr18_6724716_6920716	6910930	CGCCTCCC others(584): Show CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGG GATTACAGGCGCCCATCACCACGCCCGGCTAATTTTGCTAGAGATGGGGT TTCACTGAGTTTGCCAGGATGGTCCCGATCTCCTGACCTTGTGATCCGCC CACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTC GGCCAGCTCTTGGTAGTTTTGTTTGAGACTTCAGCATACATTTCAAGCAC ACTGCACGTAAAGACTTTCGAATACGTTTGCCCCAGGAAATGATCTTTTA GTTGTTACCATTTTGGGATTTCCTGCCCATGGGCTTTACGTCCATAGTAA AGAAACAAAATGACCATTCCTAAAATGAACTTGACTTGAATCTTCTCTAG CTCTGGTCAAGTACCTATCTATAAAACCACTGGAGGACATGTATTAGCAT ATAAATGATGAGTTTATATGCTAATATACCTGAAACAAGTTCTTGCCATA TTTTTCTTTTCTTTTCTTTTCTTTGAGACGGGATCTCACTCTGTCACCCA GGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03540.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0212 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0212	3	248	0.0121	-591	c.209 others(18): Show c.2096-1122_2096-532del	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASB5_chr4_176208673_176274222	176218671	TATATATA others(584): Show TATATATATATTTGTATGATATATAAATATATATATATTTGTATGATATA TACATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATGTATGATATATAAATATATATTTGTATGATATATAAATATATATATT TGTATGATATATAAATATATATATTTGTATGATATATAAATATATATATT TGTATGATATATAAATATATATGTATGATATATAAATATATATTTGTATG ATATATAAATATATATATTTGTATGATATATAAATATATATGTATGATAT ATAAATATATATTTGTATGATATATAAATATATATATTTGTATGATATAT AAATATATATATATTTGTATGATATATAAATATATATATATATTTGTATG ATATATATATTTGTATGATATATAAATATATATTTGTATGACATATAAAT ATATATTTGTATGACATATAAATATATATATTTGTATGACAGATAAATAT ATATATTTGTATGATATATAAATATATATGTATGATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 NA18906.hp1 HG02809.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149	3	410	0.0073	-591	c.670 others(17): Show c.670+1893_671-1663del	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
DCC_chr18_52335197_53540899	53085994	TCTCCTTC others(584): Show TCTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCT TCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCT TCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTT CTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTT CTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTT CTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTC TTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02486.hp1 HG02572.hp2 others(2): Show HG02080.hp2 HG02486.hp1 HG02572.hp2 HG03471.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0025	a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 others(2): Show a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 a0002c0001t0005 a0002c0025t0001	a0001c0002t0002g0005 a0001c0003t0001g0058 a0002c0001t0001g0044 others(2): Show a0001c0002t0002g0005 a0001c0003t0001g0058 a0002c0001t0001g0044 a0002c0001t0005g0088 a0002c0025t0001g0015	5	114	0.0439	-591	c.126 others(21): Show c.1261+19831_1261+20421del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
IL3RA_chrX_1331785_1387689	1366263	GGGGTGAG others(584): Show GGGGTGAGCCGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGT GAGCCGGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCG GGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTG AGCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGG GGTGAGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGTGC GCGGGGTGAGCCCGGTGAGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGG GTGAGCCGGGTGAGCGGGGTGAGCGGGGTGCGCGGTGCGCGGGGTGAGCG GGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTG CCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGG GGTGCGCGGAGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGC GCGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGG GTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCGC	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	115	0.0087	-591	c.874 others(17): Show c.874+1015_874+1605del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
P2RX5_chr17_3668227_3701155	3685946	ACACAGCG others(584): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	362	0.0028	-591	c.981 others(17): Show c.981+1475_981+2065del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144531387	GGGCTAGA others(583): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp2 HG03209.hp2 HG02055.hp2 HG02809.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0150 a0001c0001t0004g0155 a0001c0001t0004g0158 a0001c0001t0004g0150 a0001c0001t0004g0155 a0001c0001t0004g0158	3	246	0.0122	-590	c.298 others(17): Show c.2980+328_2981-517del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
BANP_chr16_87946434_88082316	87999371	CGTCTCCA others(583): Show CGTCTCCATGCACGCACGTGCGCGGCTGGACTTACCTGTCCTTCCAGACA CCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTTACCTGTCCT TCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTTA CCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGC TGGACTTACCTGTCCTTCCAGACGCGTCTCCATACACGCACGTGCGCGGC TGTACTTACCTGTCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGC TGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACG TGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGCCCGCACG TGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATGCACGCACG TGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCACG TGCACGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATG CACGCACGTGCGCGGCTGGACTTACCTGTCCTTCCAGACGT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0010 a0002c0018t0010	a0002c0018t0010g0114 a0002c0018t0010g0114	1	352	0.0028	-590	c.363 others(17): Show c.363-4896_363-4307del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
C8orf82_chr8_144520733_144534111	144531387	GGGCTAGA others(583): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0012 a0002c0004t0005g0012	1	398	0.0025	-590	c.-30 others(11): Show c.-3061_-2472del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2277		chr8	TogoVar
CNST_chr1_246561456_246673595	246620038	CACACTCT others(583): Show CACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATGGGCTC TGGGAACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGG GCTCTGGGAACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACG ATGGGCTCTGGGCACACTACAGGGAGGACGGCTTCATCGTGGTGCATACA CACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCA TACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCAGTCGTG CATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAGT CGTGCATACACACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTT CAGTCGTGCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGC TTCATCGTGGTGCATACACACGATGGGCTCTGGGAACACTACAGGGAGGA CGGCTTCATCGTGGTGCATACACACGATGGGCTCTGGGCACACTACAGGG AGGACGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0116	1	320	0.0031	-590	c.380 others(16): Show c.380-1313_380-724del	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1405077	CGTGTATT others(583): Show CGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTG TATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTG AGCGCTCCCTCATCGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCG CCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCC TTGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGT CCTCCAGAGTCGTACTAACTGAGCGCTCCCACCTTGTCCTCCAGAGTCGC GTAACTCAGCGCTTACTGAGCGCCACCTCCTTGCCCTCCAGAGTCGTGTA TTGAGTGCGCACTGAGCGCCACCTCCTCATCCTCCAGGGTA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03486.hp2 NA20300.hp2 HG01361.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0006 a0001c0002t0023 a0001c0009t0012 a0001c0002t0006 a0001c0002t0023 a0001c0009t0012	a0001c0002t0006g0011 a0001c0002t0023g0005 a0001c0009t0012g0006 a0001c0002t0006g0011 a0001c0002t0023g0005 a0001c0009t0012g0006	3	40	0.0750	-590	c.107 others(19): Show c.107-96267_107-95678del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	170910	GCAGCACC others(583): Show GCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGG CCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGG AGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGG CCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAG GCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCC AGGCTGCAGAGGGCGGCACCAGGGGCCGGGCCAGGTTGCAGAGGGGAGCA CCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGC TGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACC AGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTG CAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0251 a0001c0002t0035g0251	1	339	0.0030	-590	c.453 others(17): Show c.453+1037_453+1626del	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8			chr17	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(583): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp2 NA18981.hp2 others(3): Show NA18953.hp1 NA18953.hp2 NA18981.hp2 NA18999.hp1 NA19004.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0007 a0004c0004t0001 a0001c0001t0001 a0001c0001t0007 a0004c0004t0001	a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0078 others(3): Show a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0078 a0001c0001t0007g0231 a0004c0004t0001g0137 a0004c0004t0001g0209	6	340	0.0177	-590	c.641 others(16): Show c.641-1036_641-447del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567106	ACTCTGTC others(583): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	340	0.0029	-590	c.641 others(17): Show c.641-2542_641-1953del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GAL3ST2_chr2_241771822_241809287	241805655	GACCTCCG others(583): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	314	0.0032	-590	c.14 others(11): Show c.1490_*2079del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1369		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805672	CTCCCCCC others(583): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 NA19002.hp1 NA19063.hp2 HG03041.hp1 NA19002.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0001 a0002c0002t0001g0008 a0002c0002t0002g0127 a0001c0001t0002g0001 a0002c0002t0001g0008 a0002c0002t0002g0127	3	314	0.0096	-590	c.15 others(11): Show c.1507_*2096del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1386		chr2	TogoVar
INPP5A_chr10_132532787_132788480	132771646	GGCAGCCG others(583): Show GGCAGCCGCCCCGCGAAGAGTGGGACAGACACTCAGCACTGACACAGAGG CCACGGCAGCCACCCCATGAAGAGTGGGACAGACACTCAGCACTGACACA GAGGCCACAGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGCACTGA CACGGAGGCCCAGGCAGCCGCCCCGTGAAGAGTGGGGCACTCAGCACTGA CACGGAGGCCACAGCAGCCACCCCGCGAAGAGTGGGACAGACACTCAGCA CTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTC AGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGAC ACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGAC GGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTG GGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCACGAGG AGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGAT GAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	204	0.0049	-590	c.977 others(17): Show c.977+5807_978-5429del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITSN2_chr2_24197864_24365536	24324263	ATTTTTTT others(583): Show ATTTTTTTTAAAAAGCTGCTCTAACATACATGGGTATATATACCCCCGGG CAGTGATGGACTCTACTGCTATCCTAAGACAAAAGAGAGTTCTGCTGCAT CAAGATTGATGCACCAATGCTCATCACAGTATGATGCTTTCTTATATATA TTACTATCTCCTGACATTTCCTTGGCTATGTGTTTTCACAGGGGCTAAAC TCAACCCATCTGTTTGTTTACTGCTTAGTTCCTCATGTCTCCAATCAGTA ATCTTGACACCTTCATATTCATTCATTCAGTAAATGTTTATGGGGTACAA AGATGAATAAAATGAACCACTTGCCTGGGCACAGCCCAGCACTTCAGAAG GCTAGGGCAGGAGGATCACTTGAGCCCAGGAGTTGAGACCAGCCTGGTCA ACATAGTGAGACCCCTATCTCTAAAAAAAAAATTCTTTTAAGTAGCTGGT CTTGGTGGCACATGTCTGTAGTCCCAGTTACTCTGGAGGCTGAGGCAGAA GGAATTGCTTGAGCCTGGAGGTTGAGATTGCAGTGAGCAATGTTCATGCC ACTGTACTCCAGGCTGGGTTGACAGAGTAAGACCCTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 HG02109.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0106 a0001c0001t0001g0107	2	224	0.0089	-590	c.31+ others(15): Show c.31+3199_31+3788del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
LRRC24_chr8_144517388_144532033	144531387	GGGCTAGA others(583): Show GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC GAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCA CAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCT AGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	398	0.0025	-590	c.-50 others(11): Show c.-5077_-4488del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4355		chr8	TogoVar
NDUFV2_chr18_9097699_9139341	9111498	GGCTCACT others(583): Show GGCTCACTGCAACCTCTGCATCCTGAGTTCAAGCGATTCTCCTGCCTCAG CCTCCTGGTTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATT TTTGTATTTTTAGTAGGGATGGGGTCTCATCATGTTGGCTAGGCTGGTCT CGAACTCATGACCTCAGGTGATCCGTCCGCCTCAGCCTCCTAAAGTGATG GGATTACAGGCATGAGCTACTGTGCCCGGCCTGAAGTACATCTTTTAATG CTCTCAAGAACCCTATGAAGTACATGCCGTTATTTTTCTGTTTTTATAAA TGAGGAAACAGGCTCTAGAGCTGAGCTTTTAGCCATTTTGCTATATTGTC TCTCCATACATAGGATATTTATGGAATATTAGATAACAGTGATACATCCC ACCTTCAGAGGTGCTAGAATGTGGAAAATGTGTTTATTAGAAATGATGAA ATTGACATTTCATATACTAGAACGTGTTTGGTGTTGGTCATCTTTTACAC CACACTCAGCATCAGAAGGGTTTTTTTTTTTTTTTTTTTGATAGAGAATC TCGCTCTGTCGCCCAGGCAGGAATGCAGTGGCTCGATCTCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp2 HG03209.hp2 others(1): Show HG02922.hp2 HG03098.hp2 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0085 a0001c0001t0001g0179 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0003g0182	4	368	0.0109	-590	c.55- others(15): Show c.55-6324_55-5735del	NDUFV2	ENSG00000178127.13	transcript	ENST00000318388.11	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEU4_chr2_241804193_241822413	241805655	GACCTCCG others(583): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0073 a0001c0004t0001g0073	1	319	0.0031	-590	c.-36 others(11): Show c.-3622_-3033del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3537		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805672	CTCCCCCC others(583): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTCCCTC CCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA19057.hp1 NA19063.hp2 HG03041.hp1 NA19057.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0002t0001g0122 a0001c0004t0001g0016 a0001c0001t0001g0009 a0001c0002t0001g0122 a0001c0004t0001g0016	3	319	0.0094	-590	c.-36 others(11): Show c.-3605_-3016del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3520		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805711	CTCCCCCC others(583): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0115 a0001c0005t0001g0115	1	319	0.0031	-590	c.-35 others(11): Show c.-3566_-2977del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3481		chr2	TogoVar
PERM1_chr1_970198_987093	977269	CGCCTGCC others(583): Show CGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCC CGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCT CCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGG AACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCC CCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACC GCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCAC CAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTG CCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGG AACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCA ACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA20129.hp2 HG00099.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	408	0.0049	-590	c.214 others(18): Show c.2149+1022_2150-646del	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977269	CGCCTGCC others(583): Show CGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCC CGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCT CCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGG AACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCC CCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACC GCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCAC CAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTG CCCCCACCGACCAACCCCGGGAACCGCCTCCCACCCCCACCAACCCCGGG AACCGCCTCCCAATCCCCCCAACCCCGGGAACTGCCTCCCACCCCCACCA ACCCCGGGAACCGCCTCCCAATCCCCCCAACCCCGGGAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 NA20129.hp1 HG00099.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0001 a0001c0001t0001g0050	2	422	0.0047	-590	c.26 others(11): Show c.2695_*3284del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1405		chr1	TogoVar
RETNLB_chr3_108750638_108762410	108752945	AGACACAA others(583): Show AGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTG ATGCAAAAATCCTCAATAAAATACTGGCAAGCCGAATCCAGCAGCACATC AAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGG CTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAG CCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCCTTT GACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTAT TGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAG CCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACT GGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTT GGAAGTTCTGGCCAGGGCAATTAGGCAGGAGAAGGAAATAAAGGGTATTC AATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGACGACATGATT GTGTATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 NA20129.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0017 a0001c0001t0004g0018	2	452	0.0044	-590	c.22 others(11): Show c.2243_*2832del	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2692		chr3	TogoVar
RETREG2_chr2_219173275_219190475	219187601	GGAGGCTG others(583): Show GGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCTGGCC AACATAATGAAACCCTGTGTCTACCAAAAATACAAACATTAGCCAAGAGT GGCGGTGCACACCTGTAATCCTAGCCACTGGAGAGGCTGAGGCCAGAGAA TCGCTTGAACCTGAGAGGAAGAAGTTGCAGTGAGCCGAGATCATGCCATT GCACTCCAGGCTGGGTGACAGGAGCAAAACTCCCTCTTGGGGAAAAAAAA AAAAGGGGGAAGTCTCTGAGGCTGGGTGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGTCAAGGTGGGCGGATCACCTGAGGTCAAGAATTTA AGACCAGCCTGGCGCCACAACATGGTGAAACCCCGTCTCTACTAAAAATA CAAAAACTAGCCAAGAGTGGTGGTGGCGTGCTCCTGTAATCCCAGCTACT GGGGAGGTGGAGGCATGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCA GTGAGCCAAGATCACCCAACTGCACTCCAGCCTGGGCGACAAAGTGAGGC TCTGTCTCAAAAACAAAACAAAAGTAATCCCAGCACTTTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(138): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0002 a0002c0001 a0005c0007 others(1): Show a0001c0002 a0002c0001 a0005c0007 a0009c0016	a0001c0002t0038 a0001c0002t0039 a0002c0001t0001 others(16): Show a0001c0002t0038 a0001c0002t0039 a0002c0001t0001 a0002c0001t0005 a0002c0001t0010 a0002c0001t0023 a0002c0001t0025 a0002c0001t0041 a0002c0001t0042 a0002c0001t0043 a0002c0001t0044 a0002c0001t0045 a0002c0001t0046 a0002c0001t0047 a0002c0001t0048 a0002c0001t0049 a0005c0007t0001 a0005c0007t0005 a0009c0016t0005	a0001c0002t0038g0001 a0001c0002t0039g0001 a0002c0001t0001g0001 others(25): Show a0001c0002t0038g0001 a0001c0002t0039g0001 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0010 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0005g0002 a0002c0001t0005g0010 a0002c0001t0005g0012 a0002c0001t0005g0015 a0002c0001t0010g0002 a0002c0001t0023g0002 a0002c0001t0025g0002 a0002c0001t0041g0019 a0002c0001t0042g0002 a0002c0001t0043g0002 a0002c0001t0044g0002 a0002c0001t0045g0002 a0002c0001t0046g0002 a0002c0001t0047g0002 a0002c0001t0048g0002 a0002c0001t0049g0002 a0005c0007t0001g0002 a0005c0007t0005g0002 a0009c0016t0005g0002	141	430	0.3279	-590	c.49 others(11): Show c.4973_*5562del	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding		2127		chr2	TogoVar
TBCD_chr17_82747065_82950914	82764777	GCTCATAG others(583): Show GCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGC GGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGT GCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGC TTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGT CTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02717.hp2 HG02109.hp1 HG02486.hp2 HG02717.hp2	a0002 a0002	a0002c0007 a0002c0011 a0002c0023 a0002c0007 a0002c0011 a0002c0023	a0002c0007t0035 a0002c0011t0002 a0002c0023t0037 a0002c0007t0035 a0002c0011t0002 a0002c0023t0037	a0002c0007t0035g0004 a0002c0011t0002g0002 a0002c0023t0037g0003 a0002c0007t0035g0004 a0002c0011t0002g0002 a0002c0023t0037g0003	3	318	0.0094	-590	c.333 others(15): Show c.333+716_334-900del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38			chr17	TogoVar
ANKRD33B_chr5_10559070_10662816	10639082	AGTTGCGC others(582): Show AGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAG CGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCG CGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGA CGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGAT GTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGG TTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCG GGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGGGTTGCGCG GCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACG CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGT TAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTT GCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp2 HG01516.hp1 others(1): Show HG00733.hp1 HG01361.hp2 HG01516.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0066 a0001c0001t0001g0277 a0001c0004t0002g0040 others(1): Show a0001c0001t0001g0066 a0001c0001t0001g0277 a0001c0004t0002g0040 a0001c0004t0002g0229	4	324	0.0124	-589	c.637 others(17): Show c.637+1004_637+1592del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)