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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
ERC1_chr12_986223_1500931	1087784	ATTGTTGT others(256): Show ATTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTGT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCC CGTTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp1 HG02109.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0067 a0002c0002t0047 a0001c0001t0067 a0002c0002t0047	a0001c0001t0067g0121 a0002c0002t0047g0104 a0001c0001t0067g0121 a0002c0002t0047g0104	2	162	0.0124	-263	c.108 others(19): Show c.1086+4217_1086+4479del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18				INFO_REALIGN_3_PRIME	chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817800	GGTGAACC others(256): Show GGTGAACCCGCACTCCACACCTCCACACTCTAACGTGAACCCGCCCTCCA CTCCTCCACGCTCTAAGGTGAACTCACCCTCCACACCTCCACGCTCTAAG GTGAACCCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCAC TCCTCCACGCTCTAAGGTGAACCCCCCCCCACACCTCCACACTCTAAGGT GAACTCACCCTCCACTCCTCCACGCTCTAAGGTGAACCCACCCTCCACAC CTGTACGCTCTAAC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG02132.hp2 others(4): Show HG01106.hp1 HG01891.hp1 HG02132.hp2 HG02622.hp2 HG02809.hp2 HG02976.hp1 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0018 a0006c0010 a0001c0018 a0006c0010	a0001c0018t0019 a0006c0010t0006 a0006c0010t0046 others(1): Show a0001c0018t0019 a0006c0010t0006 a0006c0010t0046 a0006c0010t0047	a0001c0018t0019g0132 a0006c0010t0006g0011 a0006c0010t0006g0012 others(4): Show a0001c0018t0019g0132 a0006c0010t0006g0011 a0006c0010t0006g0012 a0006c0010t0006g0130 a0006c0010t0006g0131 a0006c0010t0046g0129 a0006c0010t0047g0134	7	308	0.0227	-263	c.134 others(16): Show c.134-1251_134-989del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23					chr12	TogoVar
GPLD1_chr6_24420832_24494578	24424100	TTTCCTGA others(256): Show TTTCCTGATTCTCAGGTGACTAAAAAGCTAGCATTCTATGTATTAACCTT ACAACAGACTCTGTAAGTTTGAGCTTTAAAAACCAAACTTTGACATAACC TTATTTCTTGTATTTGCCCCCTTTTTTTTATAAAAGGTGAATAAAAAGAA ATAATTTAATATCACCATTGTATGGATTCCTAATCAAGATTTCACGTTCT CAGCCCCTGAGACTAGTTTTCTTTGCTCTCTGTAATTAGAGCCTTTGGAA GCAAAGTTGAAAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03139.hp2 HG01255.hp1 HG03139.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0008 a0005c0006t0057 a0005c0006t0008 a0005c0006t0057	a0005c0006t0008g0133 a0005c0006t0057g0131 a0005c0006t0008g0133 a0005c0006t0057g0131	2	358	0.0056	-263	c.46 others(11): Show c.4669_*4931del		GPLD1	ENSG00000112293.15	transcript	ENST00000230036.2	protein_coding				1731		chr6	TogoVar
GZMM_chr19_539053_554922	540535	CCCCCCGG others(256): Show CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTT TAGAATCCGGAGGCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGG CTGGGATGGCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	398	0.0025	-263	c.-35 others(11): Show c.-3536_-3274del		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding				3517		chr19	TogoVar
MRS2_chr6_24397936_24431190	24424100	TTTCCTGA others(256): Show TTTCCTGATTCTCAGGTGACTAAAAAGCTAGCATTCTATGTATTAACCTT ACAACAGACTCTGTAAGTTTGAGCTTTAAAAACCAAACTTTGACATAACC TTATTTCTTGTATTTGCCCCCTTTTTTTTATAAAAGGTGAATAAAAAGAA ATAATTTAATATCACCATTGTATGGATTCCTAATCAAGATTTCACGTTCT CAGCCCCTGAGACTAGTTTTCTTTGCTCTCTGTAATTAGAGCCTTTGGAA GCAAAGTTGAAAGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG03139.hp1 HG01255.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0010 a0001c0002t0014g0010	2	432	0.0046	-263	c.40 others(9): Show c.407_*669del		MRS2	ENSG00000124532.15	transcript	ENST00000378386.8	protein_coding	11/11			407		chr6	TogoVar
NAV3_chr12_77825894_78218010	77980991	AGAGGTTA others(256): Show AGAGGTTATAACATATTTTCATACCGTATTTCACTAAAAGGATAAGTTAT CACAGTAACCTGTCCCAAATGCAATTCAGATGATATTTCAGCCACCCGGT TACTAAAAAGAAACACATGTGGATAAAAGCTGTTTCTGACTTATTTATGG ATTAGGCAATAACTGTTTTCAGTGAACTCTTAGCAAAAGGAGAACGTATT TTATGATATACTCTGCAGTGAGGACACTTTTTGCAAAATGCCTTTAATAT TTTTTAAGGACCAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0021 a0004c0017t0021	a0004c0017t0021g0176 a0004c0017t0021g0176	1	186	0.0054	-263	c.671 others(19): Show c.671+12290_671+12552del		NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	5/39					chr12	TogoVar
NFATC1_chr18_79390930_79534323	79521173	GTGTGTCC others(256): Show GTGTGTCCATGTGTGTGTGGGGGCATCAGCTGATATGTGTGTCTGTGTGT GGGGGGTGGAGCATCCACTGATGTGTGTCCATGTGTGTGTGGGGGCATCC GCTGATGTGTGTGTCTGTGTGTGTGGGGGGGGGCGTCTCCTGATGTGTGT GTCTGTGTGTGTGTGTGTAGGGGGGGAGCATCCACTGATGTGTGTGTGTG TGGGGAGCATCCACTGATGTGTGTGTCTGTGTGTGTGTGGGGGGCATCCA CTGATGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG04115.hp1 HG01934.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0024 a0001c0015t0002 a0001c0001t0024 a0001c0015t0002	a0001c0001t0024g0171 a0001c0015t0002g0067 a0001c0001t0024g0171 a0001c0015t0002g0067	2	322	0.0062	-263	c.278 others(19): Show c.2783-6349_2783-6087del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9				INFO_REALIGN_3_PRIME	chr18	TogoVar
PIGN_chr18_62036164_62192056	62039774	GCCCATCC others(256): Show GCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCG CACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGC CCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCA CCCCATGTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCC CATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGGTGCCGCAC CCCATGTTTAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02071.hp1 HG02258.hp1 others(10): Show HG00673.hp1 HG02071.hp1 HG02258.hp1 HG03540.hp1 NA18944.hp1 NA18953.hp1 NA18961.hp1 NA18978.hp1 NA18995.hp2 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0036 a0001c0003t0072 a0004c0006t0031 others(7): Show a0001c0003t0036 a0001c0003t0072 a0004c0006t0031 a0004c0006t0057 a0004c0006t0066 a0004c0006t0093 a0004c0006t0134 a0004c0006t0135 a0004c0006t0136 a0004c0006t0137	a0001c0003t0036g0030 a0001c0003t0072g0026 a0004c0006t0031g0003 others(9): Show a0001c0003t0036g0030 a0001c0003t0072g0026 a0004c0006t0031g0003 a0004c0006t0031g0303 a0004c0006t0057g0299 a0004c0006t0057g0304 a0004c0006t0066g0009 a0004c0006t0093g0218 a0004c0006t0134g0310 a0004c0006t0135g0301 a0004c0006t0136g0298 a0004c0006t0137g0300	13	342	0.0380	-263	c.58 others(11): Show c.5819_*6081del		PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding				1389		chr18	TogoVar
SEC63_chr6_107862756_107963208	107934214	GCTGCCCA others(256): Show GCTGCCCAGTCTGGAAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCCCGT CTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCATCCCATCTAGGAAGTG AGGAGCGCCTCTTCCCGGCCGTCATCCCATCTAGGAAGTGAGGAGCGTCT CTGCCCGGCCGCCCATCGCCTGAGATGTGGGAAGCGTCTGTGCCCCGCGG CCCCGTCTGGGATGTGAGAGTGCCCGGCCGCGACCCCGTCTGGGAGGTGA GGAGCGTCTCTGCC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0314 a0001c0001t0014g0314	1	332	0.0030	-263	c.125 others(17): Show c.125-4963_125-4701del		SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20					chr6	TogoVar
SRD5A2_chr2_31517480_31585938	31533402	GAGTTTTG others(256): Show GAGTTTTGCGATGGGAAATGGCATGATATGTGTTTAAACAATCTCTCTGG CTACCATATAGAGAAAAGATCAGGGTAGAGGTGAGGGAGGGGAAGATGGG ATCATTACGAGGTCATTGCAGTAGGGAGAGGCCATGGCGATGTAGATTGT GGGAAGGGTTGTTAGCTGGGAAGTAGGTGAGAAGTGGGCAGATTCACTTA CCCAAGCTAAACCGTATGTCTGTGTACCACCCATCAGGGTATTCAGCACA GTAAATCAGATAGT	G G	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG03491.hp1 HG03491.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0265 a0005c0008t0001g0265	1	386	0.0026	-263	c.383 others(11): Show c.383_445+200del	p.Tyr others(19): Show p.Tyr128_Gly149delinsCys	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	2/5	383/765	128/254			chr2	TogoVar
SYTL3_chr6_158645054_158769871	158701247	AAGGAGTG others(256): Show AAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGA TGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTA GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTG TAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGG AGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGGGAGGAGCCATGG GGAGAGGGTCATGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG03486.hp1 others(1): Show HG02451.hp1 HG02622.hp2 HG03486.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0006 a0005c0007 a0001c0001 a0003c0006 a0005c0007	a0001c0001t0001 a0003c0006t0001 a0005c0007t0001 a0001c0001t0001 a0003c0006t0001 a0005c0007t0001	a0001c0001t0001g0015 a0001c0001t0001g0020 a0003c0006t0001g0058 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0003c0006t0001g0058 a0005c0007t0001g0045	4	292	0.0137	-263	c.395 others(17): Show c.395-5954_395-5692del		SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17				INFO_REALIGN_3_PRIME	chr6	TogoVar
TTLL8_chr22_50013575_50063298	50028623	CCCCCACA others(256): Show CCCCCACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCA CACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCC TCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACATACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCC CATCACGCTGTCCTAAAGACCCCCACATACCCTCGTAAAGACCCCCATCA CACCATCCTAAAGA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03579.hp1 NA20129.hp2 HG02976.hp2 HG03579.hp1 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0009c0009t0001 a0001c0001t0001 a0009c0009t0001	a0001c0001t0001g0001 a0009c0009t0001g0058 a0001c0001t0001g0001 a0009c0009t0001g0058	3	224	0.0134	-263	c.225 others(19): Show c.2251+1544_2251+1806del		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13					chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291353	CTCCGTGT others(256): Show CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG01257.hp2 HG00099.hp1 HG00423.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0009 a0001c0009t0002 a0001c0001t0001 a0001c0001t0009 a0001c0009t0002	a0001c0001t0001g0155 a0001c0001t0009g0122 a0001c0009t0002g0036 a0001c0001t0001g0155 a0001c0001t0009g0122 a0001c0009t0002g0036	3	284	0.0106	-263	c.121 others(18): Show c.1214+883_1214+1145del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17					chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291447	CTCCGTGT others(256): Show CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	284	0.0035	-263	c.121 others(18): Show c.1214+789_1214+1051del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17					chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291538	TCCCTCCG others(256): Show TCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCT ACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTC CGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGT ACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTC CCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGA GAGGGCAGCACGCG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	284	0.0035	-263	c.121 others(17): Show c.1214+698_1214+960del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17					chr10	TogoVar
TUBGCP5_chr15_22994177_23044569	23040988	GGGCGGGG others(256): Show GGGCGGGGGGAACTTCTTAACCCCACCTGGCCAGAGGTGCTGGGGGTGAC TTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCA CCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTG CTGGGGGGTATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACATCAT AACCCCACTTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCC GGAGGTGCTGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0265 a0002c0004t0002g0265	1	351	0.0029	-263	c.-17 others(11): Show c.-1708_-1446del		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding				1420		chr15	TogoVar
WWC2_chr4_183094257_183325777	183184874	TACTATTC others(256): Show TACTATTCCAAATAGGAGGACTGTTAAGCCATTATCTGTTTAAATATTTC ATCGTTTTCATAACAGAGATACTTGTAAAGCCTTCAGGTTTATTTTTAAC TTGAGCTTGTTTTCCACTTCTCCATCACCTGGTTGGATTAGGGATCCAAT CTAATTTACGTCTTTTAAACAATAGCACTCAAGGTGAACTTCTGGTCCCT GAAGTTTACCGATCAGTATTACCTCAGAACTTAGAGATGTAAATCCTCAG GTCCTTCCCAAATC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	242	0.0041	-263	c.132 others(17): Show c.132-8724_132-8462del		WWC2	ENSG00000151718.16	transcript	ENST00000403733.8	protein_coding	1/22					chr4	TogoVar
ZNF484_chr9_92839182_92883038	92872231	CAAAAAAA others(256): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAAAGCAGAGGCAATAAAAGA GAGTCAGAGAAAGATGCGACTACAAAAGAGTGGTCAGAGAGATACAATGT TGATGGCTTTGAAGTTGGAGGAAAGGGCCACAAACTGAAATGTGAGCACC CACTAGAAGCTAGAAAAGTCAGAAAATAGAAACAGATTCTTTCAGGTTGC GGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAA TCTCTGCCTCAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01243.hp1 others(18): Show HG00642.hp1 HG00735.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp1 HG02145.hp1 HG02647.hp1 HG02809.hp1 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 NA18967.hp2 NA19030.hp2 NA19043.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0061 a0001c0001t0001g0158 a0001c0001t0001g0187 others(15): Show a0001c0001t0001g0061 a0001c0001t0001g0158 a0001c0001t0001g0187 a0001c0001t0002g0028 a0001c0001t0002g0190 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0005g0030 a0001c0001t0005g0055 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0014g0056	21	402	0.0522	-263	c.15+ others(15): Show c.15+2521_15+2783del		ZNF484	ENSG00000127081.14	transcript	ENST00000375495.8	protein_coding	2/4					chr9	TogoVar
ABR_chr17_998519_1184981	1118134	CCCCCAGC others(255): Show CCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGC CTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTA ACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCC CAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGA GTCCTCCCAGCATTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0300 a0001c0001t0010g0300	1	337	0.0030	-262	c.246 others(17): Show c.246+6787_246+7048del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22					chr17	TogoVar
ADAMTS2_chr5_179105853_179350461	179313714	ACACTCAC others(255): Show ACACTCACACCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCA GAGGGGACGCACAAGCATTCACACTCATGCACACACACACTCACACCGAG ACAGAGGAGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGGGGACGCACAC GCATTCACACTCGTGCACACACACACTCACATCGAGACAGAGGAGGGCCT GGCCGGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCGT GCACACACACACT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0096 a0003c0096	a0003c0096t0002 a0003c0096t0002	a0003c0096t0002g0248 a0003c0096t0002g0248	1	276	0.0036	-262	c.534 others(19): Show c.534+29791_534+30052del		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21					chr5	TogoVar
ADARB1_chr21_45069580_45231560	45133747	GGTGTGTG others(255): Show GGTGTGTGCCCGACGGTGTGTGCGCCCGATGGGTGTGTGTGCCCGACAGT GGTGTGTGCGCCCGATGGGTGTGTGTGCCCGACAGTGGTGTGTGCGCCCG CCGGGTGTGCGCCCGACGGGGGTGTGTGCCCGACAGTGGTGTGTGCGCCC GACGGGGGTGTGTGCCCGACAGTGGTGTGTGCGCCCGACGGGGGTGTGTG CCCGACAGTGGTGTGTGCGCCCGACGGGGGTGTGTGCCCGACTGGTGTGT GCGCCCGACGGGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0048 a0001c0002t0038g0048	1	350	0.0029	-262	c.-48 others(17): Show c.-48+5188_-48+5449del		ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	2/10				INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1238368	TACTCCCT others(255): Show TACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTC CCCTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACTCCC CTCTGCCTCCCGGTGTTCACTCCCCCTCTCCCTCCCGGTGTTTACTCCCC TCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTC TCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	106	0.0094	-262	c.136 others(19): Show c.1361+3501_1361+3762del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9					chr10	TogoVar
AMPH_chr7_38378704_38636373	38406759	TCTCTCTC others(255): Show TCTCTCTCTCTCTCTCTCGTGCTGGATGCCTGCTTTCTCTCCTACTGCCC AAAACTCAAGGTTTTGGGACTTAACACCAGTGGCCTCTTGGGGGTTCTCA GGCCTTTGGCATCACACAGAGCTTCATTGTCAGCTTCCCTGGTTTGAAGC TTTCAGACTTAGGCTGAGCCTTGCTACTGGTTTCTCTCTGTCCCCAGCTT GCAGATGGCCAATCGTGGGACTTTGCCTTGTAATTGCATAAGCCAATTTT CCCTAATAGACTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	288	0.0035	-262	c.139 others(21): Show c.1398+10804_1398+11065del		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20					chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132758948	TGTGGCAC others(255): Show TGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGC ACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCG GGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCAC CCACGTGGCAGAGTGGATCACGCAGAGTGGCACCCCGGGGCACCCACGTG GCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAG TGGATCATGCAGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01106.hp1 others(8): Show HG00140.hp2 HG00733.hp2 HG01106.hp1 HG01346.hp1 HG01928.hp2 HG01993.hp1 HG02148.hp2 HG02572.hp1 HG02622.hp2 HG02809.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(8): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0003c0003t0001g0124 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0337	11	350	0.0314	-262	c.181 others(17): Show c.181+2408_181+2669del		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12					chr12	TogoVar
ARHGEF10_chr8_1818926_1963641	1850081	GGGCAAAT others(255): Show GGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAA ATGCTGAGGAGGGTGTGGGGCGGCCACGTGGACACAGAGGGCAAATGCTG AGGAGGGCGTGGGGCGGCCACATGGGCATGGATGGCAAATGCTAAGGAGG GCGTGGGGCAGTCGCGTGGACACAGACGGCAAATGCTGAGGAGGGTGTGG GGCGGCCGCGTGGGCATGGACGGCAAATGCTGAGGAGGGCGTGGGGCAAC CGTGTGGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp1 HG02257.hp2 others(7): Show HG01934.hp1 HG02257.hp1 HG02257.hp2 HG02572.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 others(3): Show a0001c0003 a0001c0005 a0001c0007 a0001c0046 a0001c0047 a0001c0123	a0001c0003t0003 a0001c0003t0035 a0001c0003t0051 others(5): Show a0001c0003t0003 a0001c0003t0035 a0001c0003t0051 a0001c0005t0018 a0001c0007t0003 a0001c0046t0001 a0001c0047t0009 a0001c0123t0001	a0001c0003t0003g0362 a0001c0003t0035g0180 a0001c0003t0051g0118 others(7): Show a0001c0003t0003g0362 a0001c0003t0035g0180 a0001c0003t0051g0118 a0001c0005t0018g0337 a0001c0007t0003g0143 a0001c0046t0001g0332 a0001c0046t0001g0333 a0001c0047t0009g0331 a0001c0047t0009g0334 a0001c0123t0001g0335	10	363	0.0276	-262	c.37+ others(15): Show c.37+6655_37+6916del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888922	TGGGGTGA others(255): Show TGGGGTGAGGGGTCTGTGACGAGACACTGAGTGGGGTGAGGGGTCTGCGA GGAGACACTGAGGTGTGAGGGGTCTACAAGGAGTCACGGAGTGCAGTGAG AGTTGTGAGGAAACATGGAGTGGGGTGCGGGTCATGAGGAGACAGTGATT GGGGTGAGGGGTCCGTGAGGAGACACTGAGTGGGGTGTGAGGGGTCTGTG AGGAGACACTGTGAGTGGGGTGAGGGTTGTGAGGAGACGCTGAGTTGGGG GGTTGTGAGGAGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp1 others(9): Show HG00423.hp1 HG00544.hp1 HG00621.hp1 HG02132.hp1 HG03669.hp1 NA18951.hp2 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18975.hp1 NA19012.hp1	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0018	a0001c0009 a0002c0032 a0002c0054 others(8): Show a0001c0009 a0002c0032 a0002c0054 a0002c0060 a0002c0061 a0002c0078 a0002c0080 a0002c0081 a0002c0152 a0014c0107 a0018c0083	a0001c0009t0069 a0002c0032t0004 a0002c0054t0002 others(8): Show a0001c0009t0069 a0002c0032t0004 a0002c0054t0002 a0002c0060t0012 a0002c0061t0025 a0002c0078t0002 a0002c0080t0022 a0002c0081t0003 a0002c0152t0002 a0014c0107t0004 a0018c0083t0002	a0001c0009t0069g0302 a0002c0032t0004g0173 a0002c0054t0002g0020 others(9): Show a0001c0009t0069g0302 a0002c0032t0004g0173 a0002c0054t0002g0020 a0002c0054t0002g0023 a0002c0060t0012g0284 a0002c0061t0025g0292 a0002c0078t0002g0036 a0002c0080t0022g0035 a0002c0081t0003g0133 a0002c0152t0002g0019 a0014c0107t0004g0135 a0018c0083t0002g0244	12	363	0.0331	-262	c.118 others(19): Show c.1182+3217_1182+3478del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112803981	CCCCTCAT others(255): Show CCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTC TCTGCCCTCCTTCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCC CCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTC CCCCCATCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCA TCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01071.hp1 others(24): Show HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02074.hp2 HG02148.hp1 HG02148.hp2 HG02735.hp2 HG03017.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp2 NA18944.hp1 NA19010.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0002c0010 a0003c0008 a0003c0012 a0006c0034	a0001c0001t0001 a0001c0002t0002 a0001c0004t0006 others(14): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0006 a0001c0004t0028 a0001c0004t0029 a0001c0005t0001 a0001c0005t0071 a0002c0003t0002 a0002c0003t0007 a0002c0003t0009 a0002c0003t0027 a0002c0010t0001 a0002c0010t0040 a0003c0008t0005 a0003c0008t0011 a0003c0012t0005 a0006c0034t0031	a0001c0001t0001g0085 a0001c0001t0001g0156 a0001c0001t0001g0225 others(24): Show a0001c0001t0001g0085 a0001c0001t0001g0156 a0001c0001t0001g0225 a0001c0002t0002g0021 a0001c0004t0006g0058 a0001c0004t0006g0132 a0001c0004t0028g0246 a0001c0004t0029g0060 a0001c0005t0001g0223 a0001c0005t0071g0125 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0089 a0002c0003t0002g0113 a0002c0003t0002g0118 a0002c0003t0007g0185 a0002c0003t0009g0143 a0002c0003t0009g0226 a0002c0003t0009g0232 a0002c0003t0009g0242 a0002c0003t0027g0233 a0002c0010t0001g0239 a0002c0010t0040g0221 a0003c0008t0005g0249 a0003c0008t0011g0020 a0003c0012t0005g0243 a0006c0034t0031g0075	27	254	0.1063	-262	c.163 others(15): Show c.163-970_163-709del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29				INFO_REALIGN_3_PRIME	chr13	TogoVar
CADPS2_chr7_122313411_122891460	122705707	CATATATT others(255): Show CATATATTATATAATATATCATATATTATATAATATATAATATATATAAT ATATAATATATGATATATTATATAATATATATCATATATAATATAATATA TATGATATATAATAATATATATTTATATATAATATATATTATATAACATA TTATACATATTATATATAATATAATATAATAAATATAATATAATATATAA TATATTATATAATATAATATATAATATATTATATAATATAATATATAATA TATATATAATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01070.hp1 others(66): Show HG00280.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18953.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18999.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0007t0002 a0001c0010t0001 a0003c0009t0006	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0002g0008 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0003g0022 a0001c0001t0003g0031 a0001c0001t0003g0037 a0001c0001t0003g0042 a0001c0001t0003g0094 a0001c0001t0003g0100 a0001c0001t0003g0113 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0004g0099 a0001c0001t0008g0118 a0001c0001t0009g0029 a0001c0002t0001g0044 a0001c0002t0001g0069 a0001c0002t0002g0016 a0001c0002t0002g0060 a0001c0002t0002g0097 a0001c0002t0003g0116 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0003t0001g0011 a0001c0003t0001g0027 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0041 a0001c0003t0001g0085 a0001c0003t0001g0104 a0001c0003t0001g0110 a0001c0003t0001g0115 a0001c0003t0002g0023 a0001c0003t0002g0108 a0001c0003t0002g0112 a0001c0003t0005g0079 a0001c0004t0001g0111 a0001c0004t0002g0013 a0001c0004t0002g0015 a0001c0004t0002g0093 a0001c0007t0002g0039 a0001c0010t0001g0120 a0003c0009t0006g0122	69	126	0.5476	-262	c.453 others(19): Show c.453+30986_453+31247del		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29					chr7	TogoVar
CDH4_chr20_61247261_61945617	61945355	CGCCCCCT others(255): Show CGCCCCCTCTCACCGACGACGAGGAGCACTGCGACTGTCTGCACCGTGGC CGCCCCTTCTCACTGACGATGAGGAGCACTGCGACTGTCTGCACCGTGGC CGCCCTTTCTGACTGATGATAAGGAACATTGCGACTGTCTGCACCGTGGC TGCCCCTTCTCACCAACGCTGAGGAGCACTGCAACCATCTGCACCGTGGC CGCCCCTTCTCACCGATGATGAGGAACATTGAGACTGTCTGCCCCGTGGC TGCCCCTTCTCAC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	106	0.0094	-262	c.84 others(11): Show c.8413_*8674del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding				4739		chr20	TogoVar
CDK12_chr17_39456486_39539544	39498946	TCTTTCTT others(255): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	260	0.0039	-262	c.242 others(19): Show c.2420-2303_2420-2042del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					chr17	TogoVar
CDK12_chr17_39456486_39539544	39498947	CTTTCTTT others(255): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	260	0.0039	-262	c.242 others(19): Show c.2420-2299_2420-2038del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
CXCL10_chr4_76016118_76028497	76027457	TACAGATA others(255): Show TACAGATAAATGTCATCAAAAAATGGTAAAGGGGGAAGCCAACCAACCAG TCAGAAAAATTGGTAGACTCATAGGGGTGATAATGCCGTGTTAGGATTCT ATAAAATCTGGTCCTCAGTTTTTCCAGTCCAGAAATTCTCATTTTTTCCT AATCATCCAGGGTAAGCATATTCTCAGAGAGTTAACTCTGCTAACCAAAT CTCAGATAGACTAAGATGAAAATTAAAAGACAGTGTATCCATTACAATCC ATTACATTTGATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(326): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0003g0008 a0001c0001t0006g0012 a0001c0001t0007g0013 a0001c0001t0008g0014 a0001c0002t0001g0011	329	424	0.7759	-262	c.-42 others(11): Show c.-4288_-4027del		CXCL10	ENSG00000169245.6	transcript	ENST00000306602.3	protein_coding				3961		chr4	TogoVar
DHRS12_chr13_51762993_51809163	51775059	AGTATTCT others(255): Show AGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC ATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTC CTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCT ACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTACT ACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAG TATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0090 a0004c0007t0001g0090	1	420	0.0024	-262	c.364 others(17): Show c.364-1287_364-1026del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8					chr13	TogoVar
DHRSX_chrX_2214506_2505976	2279199	TGGGGGAA others(255): Show TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAA	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	50	0.0200	-262	c.388 others(19): Show c.388+12041_389-12253del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6					chrX	TogoVar
DLGAP2_chr8_732628_1713476	1239299	AGTTCTCT others(255): Show AGTTCTCTCACATGGCACCGTGCCTAGTTCTGTCTCACATGGGGCCGTGT CTAGTTCTCTCACATGGCGCCGTGTCTAGTTCTCTCACGTGGTGCCGTGT CTAGTTCTCTCACATGGCGCCATGTCTAGTTCTCTCTCACATGGTGCTAT GTCTAGATCTCTCTCACACATAGCGTCATGTCTAGTTCTGTCTCACACAG AGCATCGTGTCTAGTTCTCTCACATGGTGCCGTGTCTAGTTCTCTCACAT GGCGCCGTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG02922.hp1 others(6): Show HG01891.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03486.hp1 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0022 a0001c0003t0013 others(6): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0013 a0001c0003t0024 a0002c0001t0002 a0002c0001t0005 a0002c0007t0008 a0003c0005t0002 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0013g0007 others(6): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0013g0007 a0001c0003t0024g0003 a0002c0001t0002g0032 a0002c0001t0005g0035 a0002c0007t0008g0040 a0003c0005t0002g0031 a0004c0008t0016g0029	9	40	0.2250	-262	c.74- others(17): Show c.74-19536_74-19275del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
DOC2B_chr17_137789_186650	171238	GGAGAGCA others(255): Show GGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCGGCACCAGGGGCCG GGCCAGGTTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGG AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCC AGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGCAGCACCAGGGGCCGGGCCAG GCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp1 HG03098.hp1 others(1): Show HG02257.hp2 HG02895.hp1 HG03098.hp1 HG03540.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0012 a0002c0006t0012	a0002c0006t0012g0028 a0002c0006t0012g0249 a0002c0006t0012g0274 a0002c0006t0012g0028 a0002c0006t0012g0249 a0002c0006t0012g0274	4	339	0.0118	-262	c.453 others(17): Show c.453+1037_453+1298del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8					chr17	TogoVar
DPH7_chr9_137549444_137583925	137567228	TGTCTGTG others(255): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	340	0.0029	-262	c.641 others(17): Show c.641-2336_641-2075del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
DPH7_chr9_137549444_137583925	137567256	TGTCTGTG others(255): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp2 HG02040.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	340	0.0059	-262	c.641 others(17): Show c.641-2364_641-2103del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8					chr9	TogoVar
EHMT1_chr9_137614005_137841127	137818748	GCGCCGTG others(255): Show GCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGACTGAGGGGCGCCATGTACCGAGACCGTAGAG AGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTA CCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAG AGAGGCCGATTGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0129 a0001c0003t0001g0129	1	170	0.0059	-262	c.354 others(17): Show c.3540+611_3540+872del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819128	GCGCCGTG others(255): Show GCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAG AGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTA CCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAG AGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	170	0.0059	-262	c.354 others(18): Show c.3540+991_3540+1252del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					chr9	TogoVar
F13A1_chr6_6139084_6325662	6277107	TAAGACTG others(255): Show TAAGACTGACACTGTGCAGGAGATCGAGACCATCCCGGCTAAAACGGTGA AACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(196): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0006 a0001c0009 others(21): Show a0001c0001 a0001c0006 a0001c0009 a0002c0002 a0002c0013 a0003c0003 a0003c0015 a0003c0024 a0004c0004 a0004c0011 a0004c0016 a0005c0005 a0006c0014 a0006c0025 a0006c0026 a0007c0007 a0007c0022 a0008c0010 a0009c0008 a0010c0012 a0011c0018 a0012c0027 a0013c0023 a0014c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0006t0001 a0001c0006t0002 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0013t0001 a0002c0013t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0015t0001 a0003c0015t0002 a0003c0024t0002 a0004c0004t0002 a0004c0004t0003 a0004c0004t0006 a0004c0004t0008 a0004c0004t0009 a0004c0011t0003 a0004c0016t0003 a0004c0016t0006 a0005c0005t0002 a0006c0014t0002 a0006c0014t0003 a0006c0025t0006 a0006c0026t0002 a0007c0007t0002 a0007c0022t0002 a0008c0010t0002 a0009c0008t0003 a0010c0012t0001 a0011c0018t0002 a0012c0027t0003 a0013c0023t0001 a0014c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(195): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0125 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0199 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0251 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0004g0044 a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0001t0004g0082 a0001c0001t0004g0138 a0001c0001t0004g0153 a0001c0001t0004g0225 a0001c0001t0004g0246 a0001c0001t0007g0257 a0001c0001t0007g0263 a0001c0001t0010g0279 a0001c0001t0014g0093 a0001c0006t0001g0203 a0001c0006t0002g0005 a0001c0006t0002g0007 a0001c0009t0001g0060 a0001c0009t0001g0072 a0001c0009t0001g0168 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0073 a0002c0002t0001g0099 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0124 a0002c0002t0001g0131 a0002c0002t0001g0144 a0002c0002t0001g0189 a0002c0002t0001g0197 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0231 a0002c0002t0001g0283 a0002c0002t0002g0020 a0002c0002t0002g0043 a0002c0002t0002g0171 a0002c0002t0002g0178 a0002c0002t0002g0224 a0002c0002t0002g0236 a0002c0002t0004g0081 a0002c0002t0004g0277 a0002c0013t0001g0057 a0002c0013t0001g0169 a0002c0013t0002g0242 a0003c0003t0001g0003 a0003c0003t0001g0054 a0003c0003t0001g0110 a0003c0003t0001g0114 a0003c0003t0001g0116 a0003c0003t0001g0185 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0215 a0003c0003t0001g0288 a0003c0003t0002g0068 a0003c0003t0002g0115 a0003c0003t0002g0157 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0004g0069 a0003c0003t0004g0209 a0003c0003t0005g0055 a0003c0003t0005g0058 a0003c0003t0005g0085 a0003c0015t0001g0091 a0003c0015t0002g0286 a0003c0024t0002g0071 a0004c0004t0002g0074 a0004c0004t0002g0077 a0004c0004t0002g0105 a0004c0004t0002g0275 a0004c0004t0003g0019 a0004c0004t0003g0042 a0004c0004t0003g0062 a0004c0004t0003g0166 a0004c0004t0003g0186 a0004c0004t0003g0259 a0004c0004t0006g0080 a0004c0004t0006g0137 a0004c0004t0008g0006 a0004c0004t0009g0012 a0004c0011t0003g0079 a0004c0011t0003g0108 a0004c0016t0003g0271 a0004c0016t0006g0075 a0005c0005t0002g0046 a0005c0005t0002g0097 a0005c0005t0002g0101 a0005c0005t0002g0122 a0005c0005t0002g0146 a0005c0005t0002g0192 a0005c0005t0002g0270 a0006c0014t0002g0070 a0006c0014t0003g0213 a0006c0014t0003g0214 a0006c0025t0006g0067 a0006c0026t0002g0287 a0007c0007t0002g0034 a0007c0007t0002g0155 a0007c0007t0002g0217 a0007c0022t0002g0127 a0008c0010t0002g0001 a0008c0010t0002g0086 a0008c0010t0002g0184 a0009c0008t0003g0061 a0009c0008t0003g0176 a0009c0008t0003g0177 a0010c0012t0001g0226 a0010c0012t0001g0234 a0011c0018t0002g0113 a0012c0027t0003g0112 a0013c0023t0001g0056 a0014c0020t0001g0128	199	292	0.6815	-262	c.320 others(19): Show c.320-10560_320-10299del		F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	3/14					chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805408	TCCCCCCT others(255): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0002 a0008c0015t0002	a0008c0015t0002g0131 a0008c0015t0002g0131	1	314	0.0032	-262	c.12 others(11): Show c.1243_*1504del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1122		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805525	TCCCCCCT others(255): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	314	0.0032	-262	c.13 others(11): Show c.1360_*1621del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding				1239		chr2	TogoVar
HBQ1_chr16_175459_186179	185341	AAAAAGTG others(255): Show AAAAAGTGAAAACATGGGACTCCTATCGCAGACTCTGACAGCAGAACCTG GTGTGGGTTATTTGGGAGGAGGGAGGGAGGAGGGAGAAAGGAAGAGCTGT TGTGGGTGCTATCAGCGAAACTGCACCGGGGGCATGAAGCTCAGTTTGGT CAGCACCACCTGGCAGGTGTACCAAAAGCCCACCCGACTGTCCCTGCACG GTAGAGAGGCAGGAGCGCCTCTCCCTGCACGGATGGTGCCCCGGAGGCTA CCAGGGGCGGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG03209.hp1 HG00738.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	384	0.0052	-262	c.42 others(11): Show c.4234_*4495del		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding				4163		chr16	TogoVar
JAKMIP3_chr10_132060946_132189858	132161208	GACCTCTC others(255): Show GACCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGG GGGGCCTCTCCCTGTGTGATGCTGGGGTGGTCTCTCCCTGTGTGATGCTG GGGTGGTCTCTCCCTGTGTGATGTTGGGGGGGCGGTCTCCCTGTGTGATG CTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTC TTACTGGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTG TGATGCAGGCGGT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0002 a0001c0040t0002	a0001c0040t0002g0025 a0001c0040t0002g0025	1	158	0.0063	-262	c.222 others(19): Show c.2221-2000_2221-1739del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					chr10	TogoVar
LMF1_chr16_848634_975984	960534	ACACGGGA others(255): Show ACACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCAC GACCCAGACACAGACTCACGGTGACAACACGGGATCACGACCCAGACAGA CTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACA GCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCAC GACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGA CTCACGGTGACAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(110): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp1 HG01361.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02818.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(11): Show a0001 a0002 a0004 a0005 a0007 a0008 a0010 a0015 a0018 a0019 a0020 a0021 a0023 a0024	a0001c0001 a0001c0003 a0001c0005 others(22): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0013 a0001c0018 a0001c0022 a0001c0026 a0001c0053 a0001c0055 a0002c0007 a0002c0051 a0004c0029 a0005c0027 a0007c0028 a0008c0061 a0010c0056 a0015c0066 a0018c0058 a0019c0057 a0020c0059 a0021c0062 a0023c0063 a0024c0064	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0017 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0011t0001 a0001c0013t0001 a0001c0018t0001 a0001c0022t0001 a0001c0026t0001 a0001c0053t0002 a0001c0055t0002 a0002c0007t0001 a0002c0051t0001 a0004c0029t0003 a0005c0027t0001 a0007c0028t0004 a0008c0061t0003 a0010c0056t0009 a0015c0066t0001 a0018c0058t0001 a0019c0057t0001 a0020c0059t0002 a0021c0062t0008 a0023c0063t0001 a0024c0064t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(110): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0293 a0001c0001t0002g0135 a0001c0001t0002g0229 a0001c0001t0003g0196 a0001c0001t0013g0191 a0001c0001t0017g0162 a0001c0003t0001g0131 a0001c0003t0001g0133 a0001c0003t0001g0144 a0001c0003t0001g0176 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0001g0186 a0001c0003t0001g0195 a0001c0003t0001g0202 a0001c0003t0001g0237 a0001c0005t0001g0129 a0001c0005t0001g0130 a0001c0010t0001g0279 a0001c0011t0001g0155 a0001c0011t0001g0156 a0001c0011t0001g0157 a0001c0011t0001g0158 a0001c0011t0001g0159 a0001c0011t0001g0217 a0001c0013t0001g0168 a0001c0018t0001g0152 a0001c0022t0001g0241 a0001c0026t0001g0234 a0001c0026t0001g0235 a0001c0053t0002g0031 a0001c0055t0002g0137 a0002c0007t0001g0141 a0002c0007t0001g0142 a0002c0007t0001g0148 a0002c0007t0001g0149 a0002c0007t0001g0172 a0002c0007t0001g0182 a0002c0051t0001g0206 a0004c0029t0003g0193 a0004c0029t0003g0203 a0005c0027t0001g0032 a0007c0028t0004g0265 a0008c0061t0003g0210 a0010c0056t0009g0136 a0015c0066t0001g0153 a0018c0058t0001g0236 a0019c0057t0001g0154 a0020c0059t0002g0199 a0021c0062t0008g0212 a0023c0063t0001g0187 a0024c0064t0001g0139	113	294	0.3844	-262	c.194 others(17): Show c.194-6130_194-5869del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10					chr16	TogoVar
LUC7L_chr16_183990_234449	185341	AAAAAGTG others(255): Show AAAAAGTGAAAACATGGGACTCCTATCGCAGACTCTGACAGCAGAACCTG GTGTGGGTTATTTGGGAGGAGGGAGGGAGGAGGGAGAAAGGAAGAGCTGT TGTGGGTGCTATCAGCGAAACTGCACCGGGGGCATGAAGCTCAGTTTGGT CAGCACCACCTGGCAGGTGTACCAAAAGCCCACCCGACTGTCCCTGCACG GTAGAGAGGCAGGAGCGCCTCTCCCTGCACGGATGGTGCCCCGGAGGCTA CCAGGGGCGGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG03209.hp1 HG00738.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0039 a0001c0001t0001g0040	2	350	0.0057	-262	c.35 others(11): Show c.3595_*3856del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding				3648		chr16	TogoVar
MFN2_chr1_11975444_12018508	11993068	ACCAGTCT others(255): Show ACCAGTCTCAAGAGCTTTTTCATCTTGCAGAACTGAAGCTTGTATTATAG CCATTAAACAATAACTCCCTGTCCCACATGTCCCTTGCCCTGGCCACCAC CATTCTACTTTCTGTCCCTATGAATTTGACTATTCTAGATGTCTCACGTA AGTGGAATCATACAGTATTTGTTTTTTTTTCTCCATTCATAAAACTTTTA TTCCACTTACATGAATTTAATACACGTGTTCTTAACAATTGTGCTTGTAT TGTTCATGAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG04228.hp2 NA18952.hp2 others(6): Show HG02083.hp2 HG04228.hp2 NA18952.hp2 NA18967.hp2 NA18970.hp1 NA18990.hp1 NA18994.hp2 NA19082.hp2 NA19090.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0009 a0001c0004 a0001c0008 a0001c0009	a0001c0004t0004 a0001c0008t0004 a0001c0009t0002 a0001c0004t0004 a0001c0008t0004 a0001c0009t0002	a0001c0004t0004g0034 a0001c0004t0004g0265 a0001c0004t0004g0267 others(5): Show a0001c0004t0004g0034 a0001c0004t0004g0265 a0001c0004t0004g0267 a0001c0004t0004g0269 a0001c0004t0004g0271 a0001c0008t0004g0268 a0001c0008t0004g0270 a0001c0009t0002g0266	9	394	0.0228	-262	c.311 others(15): Show c.311+379_311+640del		MFN2	ENSG00000116688.18	transcript	ENST00000235329.10	protein_coding	4/18					chr1	TogoVar
MYO16_chr13_108624611_109213005	108849551	GTAACTTA others(255): Show GTAACTTATCCATACTGGGTTATTTGCCCCTAGACTGCCTTCCTCCAAAT CCTGTTGAATTTCCTCTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTAACTTATCCATACTGGGTTATTTGTGCCTAGACT GCCTTCTTCCAAATCCTGTTGAATTTCCTCTTTTTTTTTTTTTAACTCAT CCATACTGGGTTATTTGCCCCTAGACTGCCTTCCTCCAAATCCTGTTGAA TTTCCTCTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG02280.hp1 HG03041.hp1	a0001 a0021 a0001 a0021	a0001c0005 a0021c0035 a0001c0005 a0021c0035	a0001c0005t0001 a0021c0035t0001 a0001c0005t0001 a0021c0035t0001	a0001c0005t0001g0069 a0021c0035t0001g0146 a0001c0005t0001g0069 a0021c0035t0001g0146	2	152	0.0132	-262	c.124 others(19): Show c.1248+5060_1248+5321del		MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	10/34				INFO_REALIGN_3_PRIME	chr13	TogoVar
MYOM2_chr8_2040046_2150456	2085521	CACTGTTG others(255): Show CACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCC CACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCC CCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTG GCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTTTG TGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0122 a0002c0015t0001g0122	1	403	0.0025	-262	c.164 others(17): Show c.1644+137_1644+398del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36				INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 10000 hits)