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
KIAA1671_chr22_24947716_25202448	25000189	TTTTTTTT others(296): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCGCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp1 HG01884.hp2 HG03453.hp1	a0001 a0005 a0001 a0005	a0001c0079 a0005c0011 a0001c0079 a0005c0011	a0001c0079t0005 a0005c0011t0004 a0001c0079t0005 a0005c0011t0004	a0001c0079t0005g0059 a0005c0011t0004g0010 a0001c0079t0005g0059 a0005c0011t0004g0010	2	254	0.0079	-303	c.-20 others(21): Show c.-207-25425_-207-25123del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIF9_chr3_47222998_47287799	47234542	TGTGCCCA others(296): Show TGTGCCCAGCATTTTTTTTTTCTTTTTTTTTGAGATAGAGTTTCGCTTTA TTGCACAGGCTGGAGTAAAGTGGTGTGATCTTGGCTCACTGCAACCTCTA CCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGAA TTACAGACATGTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGA GACAGGGTTTCATCATGTTGCCCAGGCTGGTCTTGAACTCCTGACCTCAA GTGATCCACCCACCTCAGCCGCCCAAAGTGCTGGGATTACAGGCGTGAGC CACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG03209.hp1 others(1): Show HG01891.hp2 HG02451.hp1 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0291 a0001c0002t0001g0007 a0001c0002t0001g0291	4	334	0.0120	-303	c.232 others(17): Show c.2322+668_2322+970del	KIF9	ENSG00000088727.14	transcript	ENST00000684063.1	protein_coding	20/20			chr3	TogoVar
KLHL29_chr2_23380179_23713606	23580308	CTTGCAGT others(296): Show CTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAG TGAGACTCTGTCTCATAAAAAAGATCTAGCCCATTAGGCCAGGCGCGGTG GCTCACACCTGTAATCCCAGTGCTTTAGGAGGCCGAGGCAGGTGGATCAC AAGGTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAACCTTGTCTC TACTAAGAATACAAAAAATTAGCTTAGCGTGGTGGCAGGCGCCTGTAGTC CTAGCTACTCAGGAGGCTGAGGCAACAGGATTGCTTGAACCCAGGAGGAG GAGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp1 others(81): Show HG00099.hp1 HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02622.hp2 HG02717.hp1 HG02738.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18984.hp2 NA18995.hp2 NA19003.hp2 NA19011.hp1 NA19074.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0015 a0001c0017 a0001c0020 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0025 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0018 a0001c0002t0026 a0001c0003t0002 a0001c0003t0011 a0001c0003t0020 a0001c0004t0002 a0001c0004t0005 a0001c0005t0007 a0001c0005t0013 a0001c0005t0014 a0001c0006t0008 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0009t0004 a0001c0011t0003 a0001c0015t0006 a0001c0017t0002 a0001c0020t0002 a0002c0010t0005	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0034 others(81): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0002g0064 a0001c0001t0002g0091 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0122 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0159 a0001c0001t0019g0013 a0001c0001t0025g0144 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0011 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0043 a0001c0002t0002g0090 a0001c0002t0002g0105 a0001c0002t0002g0153 a0001c0002t0003g0002 a0001c0002t0003g0068 a0001c0002t0003g0076 a0001c0002t0003g0102 a0001c0002t0005g0123 a0001c0002t0005g0127 a0001c0002t0005g0132 a0001c0002t0009g0083 a0001c0002t0012g0046 a0001c0002t0015g0141 a0001c0002t0018g0009 a0001c0002t0026g0142 a0001c0003t0002g0004 a0001c0003t0002g0010 a0001c0003t0011g0074 a0001c0003t0011g0112 a0001c0003t0020g0160 a0001c0004t0002g0008 a0001c0004t0005g0134 a0001c0005t0007g0001 a0001c0005t0007g0110 a0001c0005t0007g0147 a0001c0005t0013g0133 a0001c0005t0014g0139 a0001c0006t0008g0125 a0001c0006t0008g0128 a0001c0007t0001g0030 a0001c0007t0002g0085 a0001c0008t0001g0036 a0001c0008t0002g0084 a0001c0009t0001g0012 a0001c0009t0001g0117 a0001c0009t0004g0145 a0001c0011t0003g0048 a0001c0011t0003g0104 a0001c0015t0006g0156 a0001c0017t0002g0016 a0001c0020t0002g0040 a0002c0010t0005g0135 a0002c0010t0005g0140	84	160	0.5250	-303	c.285 others(19): Show c.285+17885_285+18187del	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
LRRC74A_chr14_76821408_76875304	76821724	ACGCCCCG others(296): Show ACGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCTGGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTG GGGGGATCAGCACCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00621.hp2 HG01257.hp1 others(53): Show HG00099.hp2 HG00621.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp1 HG02738.hp1 HG02818.hp2 HG02897.hp1 HG03130.hp2 HG03471.hp1 HG03516.hp1 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18985.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA20805.hp2 NA20905.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0013 a0003c0014 others(1): Show a0003c0003 a0003c0013 a0003c0014 a0004c0006	a0003c0003t0001 a0003c0003t0002 a0003c0013t0001 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0013t0001 a0003c0014t0001 a0004c0006t0001	a0003c0003t0001g0011 a0003c0003t0001g0335 a0003c0003t0001g0336 others(52): Show a0003c0003t0001g0011 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0337 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0345 a0003c0003t0001g0347 a0003c0003t0001g0348 a0003c0003t0001g0352 a0003c0003t0001g0353 a0003c0003t0001g0356 a0003c0003t0001g0357 a0003c0003t0001g0358 a0003c0003t0001g0362 a0003c0003t0001g0364 a0003c0003t0001g0365 a0003c0003t0001g0366 a0003c0003t0001g0368 a0003c0003t0001g0373 a0003c0003t0001g0374 a0003c0003t0001g0383 a0003c0003t0001g0391 a0003c0003t0001g0392 a0003c0003t0002g0333 a0003c0003t0002g0334 a0003c0003t0002g0339 a0003c0003t0002g0343 a0003c0003t0002g0344 a0003c0003t0002g0346 a0003c0003t0002g0349 a0003c0003t0002g0350 a0003c0003t0002g0351 a0003c0003t0002g0354 a0003c0003t0002g0355 a0003c0003t0002g0359 a0003c0003t0002g0360 a0003c0003t0002g0363 a0003c0003t0002g0378 a0003c0003t0002g0380 a0003c0003t0002g0384 a0003c0003t0002g0385 a0003c0003t0002g0388 a0003c0003t0002g0390 a0003c0003t0002g0393 a0003c0013t0001g0338 a0003c0013t0001g0387 a0003c0014t0001g0386 a0004c0006t0001g0369 a0004c0006t0001g0370 a0004c0006t0001g0371 a0004c0006t0001g0372 a0004c0006t0001g0381 a0004c0006t0001g0389	56	408	0.1373	-303	c.-49 others(11): Show c.-4973_-4671del	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4683		chr14	TogoVar
MINK1_chr17_4828340_4903061	4830385	TTTTTTTT others(296): Show TTTTTTTTTTTTTTTTTTTTTGAGACGTTGTCTTGCTCTGTCACCCAGGC TGGAGTGCAGTGGCACGTTCTCGGCTCACTGCAACCTCTGCCTCCCGGGT TCAAGCGATTCTTCTGCATCGGCATCCCGAATAGCTGGGATTACAGGCGC CTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTC ACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTC GTCTCGGCCTCCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACC CGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18951.hp2 NA18948.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0031 a0001c0001t0029 a0001c0001t0031	a0001c0001t0029g0132 a0001c0001t0031g0088 a0001c0001t0029g0132 a0001c0001t0031g0088	2	360	0.0056	-303	c.-31 others(11): Show c.-3198_-2896del	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding		2954		chr17	TogoVar
MPPED1_chr22_43407014_43512848	43496574	GTGGTGGT others(296): Show GTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGAT GGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGG TGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTG GTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGAGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTAGTGGTGGTGGAGGTAGTGGTGGTG GAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0229 a0001c0001t0005g0229	1	250	0.0040	-303	c.633 others(17): Show c.633-1648_633-1346del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTA3_chr2_42563632_42761946	42605296	GCTGGCCG others(296): Show GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCCGGAC GGGGCGGCTGGCGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGG GCGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(228): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0002c0002 a0003c0005 a0004c0008 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0003t0001 a0001c0004t0001 a0001c0007t0010 a0001c0010t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0011 a0003c0005t0002 a0004c0008t0003 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(228): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0031 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0244 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0287 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0094 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0202 a0001c0001t0003g0218 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0233 a0001c0001t0003g0283 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0305 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0004g0003 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0104 a0001c0001t0004g0208 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0268 a0001c0001t0004g0282 a0001c0001t0005g0022 a0001c0001t0005g0127 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0254 a0001c0001t0005g0262 a0001c0001t0006g0227 a0001c0001t0006g0269 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0007g0049 a0001c0001t0007g0072 a0001c0001t0008g0242 a0001c0001t0008g0243 a0001c0001t0008g0261 a0001c0001t0008g0299 a0001c0001t0009g0085 a0001c0001t0010g0267 a0001c0001t0010g0276 a0001c0001t0012g0143 a0001c0001t0012g0249 a0001c0001t0013g0303 a0001c0001t0015g0183 a0001c0001t0016g0246 a0001c0001t0018g0306 a0001c0001t0020g0206 a0001c0001t0021g0159 a0001c0001t0022g0292 a0001c0001t0023g0148 a0001c0001t0024g0147 a0001c0001t0025g0006 a0001c0001t0027g0308 a0001c0001t0028g0181 a0001c0003t0001g0115 a0001c0004t0001g0027 a0001c0007t0010g0277 a0001c0010t0002g0210 a0002c0002t0004g0272 a0002c0002t0004g0295 a0002c0002t0007g0005 a0002c0002t0011g0020 a0002c0002t0011g0270 a0003c0005t0002g0293 a0004c0008t0003g0307 a0005c0009t0001g0171	231	312	0.7404	-303	c.191 others(17): Show c.191-4151_191-3849del	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTDH_chr8_97639184_97735260	97733007	CAGTGCAG others(296): Show CAGTGCAGTGGCGCAACCTCGGCTCACTGCAACTTCCACCTCCTGGGTTC AAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGCCA GCCACCAACACCTGACTAATTCTTGTATTTTAGTAGAGATGGGGTTTCAC CATGTTGGCCAGGCTGGTCTCAAACTGCTGGCCTCATGTGATCCACTCAC CTTGACCTCCCAAAGTGCTGGGATAATAGGCGTGAGCCACCATGCTTGGC AATTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTATCTCCCAGG CTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG02922.hp1 others(1): Show HG02145.hp2 HG02647.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0022 a0001c0005t0022 a0001c0005t0085 a0001c0001t0022 a0001c0005t0022 a0001c0005t0085	a0001c0001t0022g0192 a0001c0005t0022g0193 a0001c0005t0022g0195 others(1): Show a0001c0001t0022g0192 a0001c0005t0022g0193 a0001c0005t0022g0195 a0001c0005t0085g0194	4	370	0.0108	-303	c.83 others(11): Show c.8338_*8640del	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding		2748		chr8	TogoVar
NANS_chr9_98051732_98088077	98061351	CCTGTAAT others(296): Show CCTGTAATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACC TGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGTGCTCCAGCC TGGGCAACAGAACAAGAGTCCATCTCAAATTAAAAAAAAAAAAAAAAAAG GCCAGGCGCGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAG ACAGGCAGGTCACGAGGTCAAGAGATCAAGATCATCCTGGCCAACATGGT GAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGCGTGGTGGCAT GCGT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0040 a0004c0011t0001g0040	1	318	0.0031	-303	c.348 others(15): Show c.348+360_348+662del	NANS	ENSG00000095380.11	transcript	ENST00000210444.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
NPR2_chr9_35786591_35814731	35803099	TCTGAACA others(296): Show TCTGAACATATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp1 others(143): Show HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA19000.hp2 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 a0001c0002 a0001c0005 a0002c0003	a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0005t0001 a0002c0003t0001	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0008 others(41): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0004g0008 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0034 a0001c0002t0008g0009 a0001c0005t0001g0006 a0002c0003t0001g0003	146	416	0.3510	-303	c.188 others(17): Show c.1887+309_1887+611del	NPR2	ENSG00000159899.16	transcript	ENST00000342694.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
NRK_chrX_105817539_105963610	105947164	TGAAATAC others(296): Show TGAAATACGGTGCAACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA GAAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG00735.hp1 others(84): Show HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18961.hp1 NA18975.hp2 NA19004.hp1 NA19030.hp2 NA19070.hp1 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0006 a0010	a0002c0002 a0002c0009 a0003c0003 others(5): Show a0002c0002 a0002c0009 a0003c0003 a0003c0011 a0004c0004 a0005c0007 a0006c0008 a0010c0015	a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 others(8): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0009t0005 a0003c0003t0003 a0003c0011t0003 a0004c0004t0003 a0005c0007t0003 a0006c0008t0002 a0010c0015t0010	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0043 others(83): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0005g0199 a0002c0002t0005g0202 a0002c0002t0005g0208 a0002c0002t0005g0210 a0002c0002t0005g0211 a0002c0002t0011g0201 a0002c0002t0013g0003 a0002c0009t0005g0209 a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0009 a0003c0003t0003g0010 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0019 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0040 a0003c0003t0003g0212 a0003c0003t0003g0213 a0003c0011t0003g0037 a0004c0004t0003g0014 a0004c0004t0003g0015 a0004c0004t0003g0016 a0004c0004t0003g0018 a0004c0004t0003g0020 a0004c0004t0003g0021 a0004c0004t0003g0022 a0005c0007t0003g0017 a0006c0008t0002g0042 a0010c0015t0010g0176	87	219	0.3973	-303	c.435 others(18): Show c.4353+717_4353+1019del	NRK	ENSG00000123572.17	transcript	ENST00000243300.14	protein_coding	26/28		INFO_REALIGN_3_PRIME	chrX	TogoVar
NT5M_chr17_17298373_17352663	17316025	GATTACAG others(296): Show GATTACAGGCATGAGCCACCATGCCCGGCCTTTTTTTTTTTTTTAAATGA GACAGAATCTCACTCTGTCCCCCAGGCTGTAGTGTAGTGGTGCCATCTTG GCTCCCTACTACAACCTGTATCTCCCGGGTAAAAGCAATTATCCTGTTTC AGCCTCCCAAGTAGCTGGGACTACAGGTGTTCGCCAACATGCCTGGCTAA TTTCTGTGTTTTTAGTGAAGACAGGTTTTCACCATGTTGGCCAGGCTGGT CTTAACCTCTTAACCGCTTGACTTCCTGACACCTTGGCCTCCCAAAGTGC TGGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG01243.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0002g0334 a0001c0001t0001g0107 a0001c0001t0002g0334	2	348	0.0058	-303	c.369 others(17): Show c.369-7153_369-6851del	NT5M	ENSG00000205309.14	transcript	ENST00000389022.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
PCNT_chr21_46319156_46450769	46383108	CTGTGCAT others(296): Show CTGTGCATTCAGTGGTGGAAGCCCATTCACGGTGTTGTGCATTCAGTGGC GGAAGCGCATTCACAGTGTTGTATATTCAGTGGCGGAAGCACATTCACCA TGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGTG ATGGAAGCGCATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCAC GGTGTTGTGCGTTCAGTGGCAGAAGCACATTCACGGTGTGCATTCAGTGG CGGAAGCGCATTCACCATGTTGTATATTCAGTGACGGAAGCGCATTCACG GTGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0025 a0007c0005t0001g0025	1	332	0.0030	-303	c.331 others(19): Show c.3312+1283_3312+1585del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PLCXD1_chrX_276381_308356	305535	ATGGTCTC others(296): Show ATGGTCTCGATCTCCTGACTTCGTGATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATGACAGGCATGAGCCACTGCGCCCGGCTTTTTATTTTTTATT TTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCAGGCTGGGGTGCAGTGG CACGATCTTGGCTCACTGCAACCTCGGCCTCCTGGGTTCCAGCAATTCTC CGGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACTGCGCC CGGCTAATTTTTTGTATTTTTATTAGAGACGGGGTTTCACCGTGTTAGCC AGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02723.hp2 others(8): Show HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG03130.hp1 NA18941.hp1 NA18947.hp1 NA18951.hp1 NA18975.hp2 NA19057.hp2 NA19090.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0008c0011 a0010c0008	a0001c0001t0007 a0001c0001t0025 a0001c0001t0033 others(6): Show a0001c0001t0007 a0001c0001t0025 a0001c0001t0033 a0001c0001t0059 a0001c0003t0023 a0001c0003t0107 a0001c0004t0007 a0008c0011t0108 a0010c0008t0077	a0001c0001t0007g0124 a0001c0001t0025g0079 a0001c0001t0033g0078 others(8): Show a0001c0001t0007g0124 a0001c0001t0025g0079 a0001c0001t0033g0078 a0001c0001t0059g0123 a0001c0003t0023g0020 a0001c0003t0023g0021 a0001c0003t0107g0104 a0001c0004t0007g0106 a0001c0004t0007g0110 a0008c0011t0108g0022 a0010c0008t0077g0072	11	176	0.0625	-303	c.62 others(11): Show c.6201_*6503del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		2180		chrX	TogoVar
PTPN9_chr15_75458251_75584315	75574969	AGAAAAGA others(296): Show AGAAAAGAAATATCTTTTTTTTTTTTTTTTTTTGAGACAGAGGAGACGGA GTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGT TTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCC CGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(193): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0002t0001 a0001c0003t0037 a0001c0005t0003 a0001c0007t0016 a0004c0006t0011	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 others(193): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0119 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0005g0099 a0001c0001t0006g0297 a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0310 a0001c0001t0006g0311 a0001c0001t0006g0313 a0001c0001t0006g0314 a0001c0001t0006g0316 a0001c0001t0006g0318 a0001c0001t0006g0320 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0007 a0001c0001t0010g0011 a0001c0001t0011g0279 a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 a0001c0001t0011g0284 a0001c0001t0012g0197 a0001c0001t0012g0275 a0001c0001t0012g0276 a0001c0001t0012g0277 a0001c0001t0012g0278 a0001c0001t0016g0296 a0001c0001t0016g0298 a0001c0001t0017g0152 a0001c0001t0017g0162 a0001c0001t0018g0095 a0001c0001t0019g0041 a0001c0001t0019g0056 a0001c0001t0020g0315 a0001c0001t0020g0317 a0001c0001t0021g0312 a0001c0001t0021g0319 a0001c0001t0022g0027 a0001c0001t0023g0028 a0001c0001t0025g0033 a0001c0001t0026g0039 a0001c0001t0027g0094 a0001c0001t0028g0083 a0001c0001t0029g0084 a0001c0001t0030g0085 a0001c0001t0031g0088 a0001c0001t0034g0191 a0001c0001t0035g0304 a0001c0001t0036g0286 a0001c0001t0040g0285 a0001c0001t0041g0291 a0001c0001t0042g0322 a0001c0001t0043g0300 a0001c0001t0044g0321 a0001c0001t0045g0274 a0001c0001t0049g0326 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0003t0037g0176 a0001c0005t0003g0016 a0001c0007t0016g0299 a0004c0006t0011g0280	196	326	0.6012	-303	c.63+ others(15): Show c.63+3442_63+3744del	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
RRP12_chr10_97351701_97406340	97398050	TTTTTTTT others(296): Show TTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG01346.hp2 others(29): Show HG00544.hp1 HG00639.hp2 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG02083.hp1 HG02109.hp2 HG02148.hp2 HG02293.hp1 HG02717.hp1 HG02735.hp1 HG02886.hp1 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03540.hp1 HG03654.hp1 HG03834.hp1 NA18944.hp1 NA18950.hp1 NA18957.hp1 NA18962.hp2 NA18984.hp2 NA18999.hp1 NA19009.hp1 NA19060.hp1 NA19082.hp1 NA19084.hp1 NA19090.hp1 NA21309.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0004 a0001c0006 a0001c0007 others(5): Show a0001c0004 a0001c0006 a0001c0007 a0001c0015 a0001c0026 a0003c0002 a0003c0027 a0006c0012	a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 others(5): Show a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0015t0001 a0001c0026t0001 a0003c0002t0001 a0003c0027t0001 a0006c0012t0001	a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0006t0001g0226 others(29): Show a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0006t0001g0226 a0001c0006t0001g0227 a0001c0006t0001g0228 a0001c0006t0001g0229 a0001c0006t0001g0230 a0001c0007t0001g0225 a0001c0007t0001g0245 a0001c0015t0001g0201 a0001c0026t0001g0299 a0003c0002t0001g0222 a0003c0002t0001g0223 a0003c0002t0001g0298 a0003c0002t0001g0300 a0003c0002t0001g0301 a0003c0002t0001g0302 a0003c0002t0001g0306 a0003c0002t0001g0307 a0003c0002t0001g0317 a0003c0002t0001g0318 a0003c0002t0001g0319 a0003c0002t0001g0321 a0003c0002t0001g0322 a0003c0002t0001g0323 a0003c0002t0001g0335 a0003c0002t0001g0336 a0003c0002t0001g0337 a0003c0027t0001g0320 a0006c0012t0001g0303 a0006c0012t0001g0304 a0006c0012t0001g0305	32	400	0.0800	-303	c.369 others(17): Show c.369+1952_370-1750del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SCHIP1_chr3_159268244_159902359	159800641	CTAGTGAC others(296): Show CTAGTGACATAAGGAAAAGCTAACCATGCCAGATCTTTCTTTTGTTGTTA AGGGCCCATGACCTGCAGTTTCCCTAACATTCATTTTTATACAGGGCAGA GGTATGTGTGCGAGCTCAGATACCTTAAATTCATATGCCTTTAATACAAT CCAGGCAGATTTCTAAATGAGGGATGCTTCCCCACAAATGGAGAGTGAAA GTGGGCCAGCCTAAAAGGACCTCCATAGCACTGTGCATGGCCAGCTGTTT GTGGCTGTACCAAAAATGCAGGTCATAGGATTTTTATGTGAAAATTTCTA TATT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	100	0.0100	-303	c.759 others(19): Show c.759+35506_759+35808del	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC63_chr6_107862756_107963208	107944908	CAAAAATC others(296): Show CAAAAATCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCTAGAACCCGC CACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(293): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0004 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(59): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0015 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0003t0006 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0014 a0001c0012t0001 a0002c0004t0003 a0003c0005t0005 a0004c0007t0043	a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0060 others(286): Show a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0072 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0103 a0001c0001t0003g0111 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0208 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0213 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0220 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0006g0281 a0001c0001t0007g0043 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0016 a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0053 a0001c0001t0009g0091 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0009g0109 a0001c0001t0009g0175 a0001c0001t0011g0081 a0001c0001t0011g0082 a0001c0001t0011g0085 a0001c0001t0011g0086 a0001c0001t0011g0088 a0001c0001t0012g0009 a0001c0001t0012g0010 a0001c0001t0012g0011 a0001c0001t0012g0012 a0001c0001t0014g0314 a0001c0001t0014g0317 a0001c0001t0014g0320 a0001c0001t0016g0176 a0001c0001t0016g0177 a0001c0001t0016g0178 a0001c0001t0017g0318 a0001c0001t0017g0319 a0001c0001t0017g0321 a0001c0001t0019g0044 a0001c0001t0019g0045 a0001c0001t0020g0017 a0001c0001t0020g0018 a0001c0001t0021g0205 a0001c0001t0021g0230 a0001c0001t0022g0130 a0001c0001t0022g0133 a0001c0001t0023g0100 a0001c0001t0023g0131 a0001c0001t0024g0054 a0001c0001t0024g0055 a0001c0001t0028g0015 a0001c0001t0030g0209 a0001c0001t0031g0179 a0001c0001t0032g0094 a0001c0001t0033g0316 a0001c0001t0034g0315 a0001c0001t0035g0122 a0001c0001t0036g0083 a0001c0001t0037g0066 a0001c0001t0038g0253 a0001c0001t0039g0084 a0001c0001t0040g0142 a0001c0001t0041g0080 a0001c0001t0042g0062 a0001c0001t0044g0063 a0001c0001t0045g0140 a0001c0001t0046g0087 a0001c0001t0047g0141 a0001c0001t0048g0218 a0001c0001t0049g0221 a0001c0001t0050g0167 a0001c0001t0051g0071 a0001c0001t0052g0076 a0001c0002t0001g0005 a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0005g0006 a0001c0002t0005g0174 a0001c0002t0005g0181 a0001c0002t0005g0182 a0001c0002t0005g0183 a0001c0002t0005g0185 a0001c0002t0005g0187 a0001c0002t0005g0188 a0001c0002t0005g0189 a0001c0002t0005g0190 a0001c0002t0005g0194 a0001c0002t0005g0195 a0001c0002t0005g0196 a0001c0002t0005g0198 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0010g0004 a0001c0002t0010g0184 a0001c0002t0010g0191 a0001c0002t0010g0192 a0001c0002t0010g0193 a0001c0002t0015g0201 a0001c0002t0015g0202 a0001c0002t0015g0311 a0001c0002t0015g0313 a0001c0002t0025g0290 a0001c0002t0025g0307 a0001c0002t0026g0203 a0001c0002t0026g0204 a0001c0002t0027g0231 a0001c0002t0027g0232 a0001c0002t0053g0291 a0001c0002t0054g0312 a0001c0002t0055g0300 a0001c0002t0056g0197 a0001c0003t0006g0206 a0001c0003t0006g0219 a0001c0003t0006g0222 a0001c0006t0001g0157 a0001c0008t0001g0152 a0001c0009t0001g0277 a0001c0010t0001g0112 a0001c0011t0014g0207 a0001c0012t0001g0323 a0002c0004t0003g0159 a0002c0004t0003g0170 a0003c0005t0005g0186 a0004c0007t0043g0322	296	332	0.8916	-303	c.124 others(19): Show c.124+12675_124+12977del	SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding	1/20			chr6	TogoVar
SKI_chr1_2223319_2315213	2281065	CGATCTTC others(296): Show CGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGGAGATCTT CAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAG AGGACGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG CGGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0023 a0001c0001t0075g0023	1	330	0.0030	-303	c.970 others(19): Show c.970-21899_970-21597del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281191	CGGAGATC others(296): Show CGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGA GATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCC GAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGG TGGT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	330	0.0030	-303	c.970 others(19): Show c.970-21775_970-21473del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC19A1_chr21_45507565_45547440	45524103	CGTTCACC others(296): Show CGTTCACCCCTGGGCCTCGGAGACTCACCTGCCCTAAGCGTTCACCCCTG GGCCTTGGAGGCTCATCACCCTGAGTGTTCACGCCTGGGCCTTGGAGGCT CACCTGCCCTGAGTGTTCACACCTGGGCCTCGGAGGCTCACCCGCCCTGA GTGTTCACACCTGGGCCTCAGAGGCTCACCCACCCTGAGCGTTCACCCCT GGGCCTTGGAGGCTCACCTGTCCTGAGCGTTCACCCCCGGGCCTCGGAGA CTCACCTGCCCTGAACGTTCACCCCTGGGCTTCGGAGGCTCACCCGCCCT GAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(170): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19081.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0004 a0001c0007 others(6): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008 a0001c0012 a0002c0002 a0003c0005 a0004c0010 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0004t0001 a0001c0004t0034 a0001c0004t0035 a0001c0007t0020 a0001c0007t0021 a0001c0008t0001 a0001c0012t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0016 a0002c0002t0019 a0002c0002t0030 a0002c0002t0036 a0003c0005t0013 a0003c0005t0015 a0003c0005t0017 a0004c0010t0001 a0005c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0261 a0001c0001t0003g0011 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0125 a0001c0001t0003g0146 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0210 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0006g0031 a0001c0001t0006g0090 a0001c0001t0006g0100 a0001c0001t0006g0106 a0001c0001t0006g0113 a0001c0001t0006g0145 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0008g0012 a0001c0001t0008g0036 a0001c0001t0008g0092 a0001c0001t0010g0097 a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0098 a0001c0001t0014g0071 a0001c0001t0014g0072 a0001c0001t0025g0073 a0001c0001t0026g0101 a0001c0001t0027g0212 a0001c0001t0028g0120 a0001c0001t0029g0096 a0001c0001t0031g0037 a0001c0001t0032g0102 a0001c0001t0033g0109 a0001c0004t0001g0260 a0001c0004t0001g0262 a0001c0004t0034g0239 a0001c0004t0035g0228 a0001c0007t0020g0160 a0001c0007t0021g0259 a0001c0008t0001g0075 a0001c0008t0001g0108 a0001c0012t0001g0214 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0005g0040 a0002c0002t0005g0041 a0002c0002t0005g0186 a0002c0002t0005g0191 a0002c0002t0016g0069 a0002c0002t0016g0242 a0002c0002t0019g0122 a0002c0002t0019g0240 a0002c0002t0030g0150 a0002c0002t0036g0187 a0003c0005t0013g0245 a0003c0005t0013g0246 a0003c0005t0013g0269 a0003c0005t0015g0026 a0003c0005t0017g0024 a0004c0010t0001g0232 a0005c0011t0001g0152	173	318	0.5440	-303	c.129 others(19): Show c.1293+1411_1293+1713del	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	5/5			chr21	TogoVar
SLC28A1_chr15_84879662_84950798	84935994	GCCCAGGC others(296): Show GCCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCAAGTAGCTGGGAC TACAGGCGCCCACCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCATCGTGGTCTTGATCTCCTGACCTCGTGATCTGCCCACCT CGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGCGCCCGGCTG TTTTGGTTTGGTTTGGTTTGGTTTGGTTTTCTGAGATGGAGTCTCCCTCT GTCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01256.hp1 others(3): Show HG01109.hp1 HG01175.hp2 HG01256.hp1 HG01496.hp2 HG06807.hp1 NA19240.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0004 a0002c0019 a0010c0018 a0001c0004 a0002c0019 a0010c0018	a0001c0004t0005 a0002c0019t0005 a0010c0018t0005 a0001c0004t0005 a0002c0019t0005 a0010c0018t0005	a0001c0004t0005g0284 a0001c0004t0005g0285 a0002c0019t0005g0003 others(3): Show a0001c0004t0005g0284 a0001c0004t0005g0285 a0002c0019t0005g0003 a0002c0019t0005g0103 a0002c0019t0005g0287 a0010c0018t0005g0034	6	396	0.0152	-303	c.158 others(17): Show c.1581+498_1581+800del	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SUN1_chr7_827476_879934	839515	AGCTGGGA others(296): Show AGCTGGGATTACAGGCGCCCGCCACCACGCCTGGCAAATTTTCCTTTTTT TTTGAGACAGAGTCTCACTTCGTTGCCCAGGCTGGAGTACAGTGGTGGCG TGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGAGATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCA GCTAATTTTTGTATTTTTAGTAGAGACGCGGTTTTCACCATGTTGGCCAG GCTGGTCTCGAACTCCTGGTCTCAGGTGATCCGCCCATTGCAGCCTCCCA AAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(205): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0007 a0009 a0010 a0011 a0012 a0017 a0020 a0021	a0001c0001 a0001c0004 a0001c0006 others(15): Show a0001c0001 a0001c0004 a0001c0006 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0002c0005 a0004c0007 a0005c0008 a0007c0010 a0009c0013 a0010c0014 a0011c0031 a0012c0016 a0017c0015 a0020c0026 a0021c0029	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(27): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0004t0002 a0001c0004t0008 a0001c0004t0022 a0001c0004t0023 a0001c0006t0012 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0002c0005t0001 a0004c0007t0001 a0004c0007t0004 a0005c0008t0001 a0007c0010t0001 a0009c0013t0001 a0010c0014t0002 a0011c0031t0014 a0012c0016t0001 a0017c0015t0008 a0020c0026t0001 a0021c0029t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 others(188): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0314 a0001c0001t0011g0188 a0001c0001t0011g0373 a0001c0001t0013g0004 a0001c0001t0013g0192 a0001c0001t0015g0130 a0001c0001t0016g0298 a0001c0001t0017g0180 a0001c0001t0019g0114 a0001c0001t0021g0136 a0001c0001t0024g0237 a0001c0004t0002g0008 a0001c0004t0002g0026 a0001c0004t0002g0241 a0001c0004t0002g0242 a0001c0004t0002g0243 a0001c0004t0002g0244 a0001c0004t0002g0245 a0001c0004t0002g0247 a0001c0004t0002g0248 a0001c0004t0002g0249 a0001c0004t0002g0250 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0253 a0001c0004t0002g0254 a0001c0004t0002g0255 a0001c0004t0002g0256 a0001c0004t0002g0257 a0001c0004t0002g0258 a0001c0004t0002g0260 a0001c0004t0002g0261 a0001c0004t0002g0262 a0001c0004t0002g0263 a0001c0004t0002g0264 a0001c0004t0002g0265 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0008g0270 a0001c0004t0022g0246 a0001c0004t0023g0267 a0001c0006t0012g0037 a0001c0006t0012g0038 a0001c0022t0001g0174 a0001c0023t0001g0022 a0001c0024t0001g0172 a0001c0025t0001g0225 a0002c0005t0001g0018 a0004c0007t0001g0019 a0004c0007t0001g0158 a0004c0007t0001g0202 a0004c0007t0004g0007 a0004c0007t0004g0135 a0004c0007t0004g0162 a0004c0007t0004g0212 a0005c0008t0001g0027 a0005c0008t0001g0028 a0005c0008t0001g0300 a0005c0008t0001g0301 a0007c0010t0001g0147 a0007c0010t0001g0226 a0009c0013t0001g0139 a0009c0013t0001g0181 a0010c0014t0002g0266 a0011c0031t0014g0296 a0012c0016t0001g0372 a0017c0015t0008g0259 a0020c0026t0001g0222 a0021c0029t0001g0155	208	418	0.4976	-303	c.266 others(15): Show c.266+534_266+836del	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TJP1_chr15_29695152_29827468	29714442	ATTAGCCA others(296): Show ATTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACTGCGCCCAGCCTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAAGCTGGA GTCCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGTCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTATAGGAGCCCGC CACCACGCCCCGCTGATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCAT CGTG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02486.hp1 HG00642.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0254 a0001c0001t0002g0255	2	261	0.0077	-303	c.420 others(19): Show c.4202+1866_4202+2168del	TJP1	ENSG00000104067.17	transcript	ENST00000614355.5	protein_coding	23/27			chr15	TogoVar
TRIM72_chr16_31209119_31236537	31232513	CGGCCAGC others(296): Show CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCCGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGA GGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCCGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCCCC GCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0048 a0001c0004t0027g0048	1	312	0.0032	-303	c.77 others(11): Show c.7759_*8061del	TRIM72	ENSG00000177238.15	transcript	ENST00000322122.8	protein_coding		977		chr16	TogoVar
TTC5_chr14_20281227_20310951	20310146	GCAGCCGC others(296): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCACCCGGC CAGACGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCACCCCGTCCAGGAGGGA GGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0003 a0002c0003t0005g0003	1	416	0.0024	-303	c.-45 others(11): Show c.-4512_-4210del	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4196		chr14	TogoVar
ZNF516_chr18_76352682_76500242	76394438	GGGGGGAA others(296): Show GGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGG TGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGT	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0341 a0001c0001t0040g0341	1	346	0.0029	-303	c.181 others(21): Show c.1811-14438_1811-14136del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
A4GALT_chr22_42687121_42725870	42706052	AAAAAAAA others(295): Show AAAAAAAAAAAAAAAAAAAGTTGGCCGGGTGCGGTGGCTCACGCCTGTAA TCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCAGGCGTGGTGGCGGGCACCTATAGTCCCAGTTACTCGGGA GGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCAGAGCTTGTAGTGAG CTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCAT CCC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0346 a0002c0008t0001g0346	1	406	0.0025	-302	c.-18 others(21): Show c.-187-10723_-187-10422del	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
ABCG1_chr21_42214140_42302244	42283740	CCCCCCAC others(295): Show CCCCCCACCTCTGTCCTGCCTGGACAGTTGTGAAGTACCCCCCAACCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCC CCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGT TGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCG CCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCA CCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGG GGA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00597.hp2 others(4): Show HG00544.hp2 HG00597.hp1 HG00597.hp2 HG01261.hp1 HG02055.hp1 HG02080.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0124 a0001c0001t0001g0197 a0001c0001t0001g0207 others(4): Show a0001c0001t0001g0124 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0002g0104 a0001c0001t0002g0147 a0001c0001t0002g0176 a0001c0001t0009g0333	7	354	0.0198	-302	c.735 others(15): Show c.735-814_735-513del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283784	ACCCAGAT others(295): Show ACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCA AAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTG GACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCT GTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGAT GAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCC CCG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0117 a0001c0003t0008g0117	1	354	0.0028	-302	c.735 others(15): Show c.735-727_735-426del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283833	AAAGTCCC others(295): Show AAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGAC CCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGA TGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCC CCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTT GCG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	354	0.0028	-302	c.735 others(15): Show c.735-716_735-415del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283898	CCCCCCGC others(295): Show CCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACA GTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTC CCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCC CCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGT GGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCG CCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCAA AGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	354	0.0028	-302	c.735 others(15): Show c.735-656_735-355del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG1_chr21_42214140_42302244	42283921	CCCCCCCA others(295): Show CCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCCCCGCCCAG ATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCC CCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAG TTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCC GCCTGGACAGTTGCGAAGTCCCCCCCGCCCAGATGAGTGGGGACCCCCCC ACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGG GGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02630.hp2 others(8): Show HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02970.hp1 HG03471.hp1 HG03516.hp2 HG06807.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0002t0002 a0001c0006t0004 a0001c0007t0016 a0001c0012t0004	a0001c0001t0002g0095 a0001c0001t0003g0326 a0001c0001t0004g0319 others(8): Show a0001c0001t0002g0095 a0001c0001t0003g0326 a0001c0001t0004g0319 a0001c0001t0012g0315 a0001c0001t0014g0061 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0006t0004g0321 a0001c0007t0016g0347 a0001c0012t0004g0276	11	354	0.0311	-302	c.735 others(15): Show c.735-632_735-331del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAP3_chr1_1287391_1312930	1288791	TCCCCCGT others(295): Show TCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCG TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	295	0.0034	-302	c.44 others(11): Show c.4471_*4772del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3599		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289213	CTCTGCTC others(295): Show CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0124 a0004c0009t0003g0124	1	295	0.0034	-302	c.40 others(11): Show c.4049_*4350del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3177		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1235897	GCTGCTCA others(295): Show GCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGA GTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCC TGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGC TTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGC CTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGA AGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAAC GAA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0059 a0001c0001t0031g0059	1	106	0.0094	-302	c.136 others(19): Show c.1362-2354_1362-2053del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	130996435	CGGCTGGC others(295): Show CGGCTGGCCGGGTAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCACCCTCCCGGACGG GGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00741.hp2 others(50): Show HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp2 HG01978.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18959.hp1 NA18961.hp2 NA18970.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0014 a0001c0045 a0003c0040 a0006c0037 a0008c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0010 a0001c0002t0046 a0001c0002t0048 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0018 a0001c0003t0029 a0001c0003t0033 a0001c0003t0041 a0001c0003t0045 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0008t0001 a0001c0009t0004 a0001c0009t0014 a0001c0014t0004 a0001c0045t0002 a0003c0040t0022 a0006c0037t0042 a0008c0034t0026	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0212 others(50): Show a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0212 a0001c0001t0002g0107 a0001c0001t0002g0161 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0009g0140 a0001c0001t0009g0144 a0001c0001t0016g0147 a0001c0001t0023g0143 a0001c0001t0028g0205 a0001c0002t0001g0125 a0001c0002t0001g0174 a0001c0002t0001g0223 a0001c0002t0002g0106 a0001c0002t0003g0041 a0001c0002t0003g0057 a0001c0002t0008g0016 a0001c0002t0010g0138 a0001c0002t0010g0142 a0001c0002t0010g0201 a0001c0002t0046g0084 a0001c0002t0048g0151 a0001c0003t0002g0186 a0001c0003t0004g0104 a0001c0003t0004g0234 a0001c0003t0006g0019 a0001c0003t0006g0058 a0001c0003t0006g0211 a0001c0003t0018g0117 a0001c0003t0029g0214 a0001c0003t0033g0181 a0001c0003t0041g0080 a0001c0003t0045g0042 a0001c0004t0002g0011 a0001c0004t0002g0114 a0001c0004t0005g0082 a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0206 a0001c0005t0001g0239 a0001c0008t0001g0183 a0001c0009t0004g0103 a0001c0009t0014g0078 a0001c0014t0004g0105 a0001c0045t0002g0091 a0003c0040t0022g0096 a0006c0037t0042g0046 a0008c0034t0026g0043	53	242	0.2190	-302	c.967 others(17): Show c.967-3936_967-3635del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AHRR_chr5_316714_443285	391635	GGGCGCAG others(295): Show GGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAG GGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGC GCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCG CAGGGTGAGGCAGGGCCAGAGCGTGCACGAACACACGGGTGCAGGGCGAG GCA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0020 a0014c0014t0020	a0014c0014t0020g0035 a0014c0014t0020g0035	1	268	0.0037	-302	c.351 others(19): Show c.351+14929_351+15230del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP2A1_chr19_49762001_49812114	49794143	ACCCGCCT others(295): Show ACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACCGGCGTGAGCCACTGCG CCTGGCCCACTCATTGTTTCTTTCTCAGGTTTTTTTTTTTTTTGAGACAG GGTCTTGCTGTCGCCCAGGCTGGAGTGCAGTAGTGCAGCCATGGTTCACT GCAGCCTCTGGCTCCTAGGCTCAAGCGATCTCTCGCCTCAGCCTCCCGAG TAGCTGGGACTGCAGGTGCCTGGCTAATTTTTGTATTTTTTGTAGAGATC GGTCTTGCTTTGTCGCCCACACTGGTCTCAAACTCCTGGCTTCAAGTGAT CCT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	342	0.0029	-302	c.705 others(17): Show c.705+1060_706-1177del	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144531294	AAGGGCAC others(295): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0078 a0001c0007t0003g0078	1	246	0.0041	-302	c.298 others(17): Show c.2980+709_2981-424del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ATP11A_chr13_112685038_112892168	112801059	GTTTCACC others(295): Show GTTTCACCCTAAGATTGGAAAAAAGGCAAGAAATCCCTTATCACTGTTCT TATTCAGCATTGTACTGGAAATCCTAGCTAATACAGTAAGAGTAGAAATG GGAATAAAAGGCCTACAGCTGACGTCATACTTAATGGTGAAAAACGAGAT GATTTCACCCTAAGATTGGAAAAAAGGCAAGAAATCCCTTATCACTGTTC TTATTCAGCATTGTACTGGAAATCCTAGCTAATACAGTAAGAGTAGAAAT GGGAATAAAAGGCCTACAGCTGACGTCATACTTAATGGTGAAAAACGAGA TGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0016 a0001c0046t0016	a0001c0046t0016g0062 a0001c0046t0016g0062	1	254	0.0039	-302	c.163 others(17): Show c.163-3845_163-3544del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AXDND1_chr1_179360971_179559735	179366958	GCCTGTAA others(295): Show GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGG TCAGGAGTTCGAGACCAGCCTGGCCAAATATGATGAAATCCCGTCTCTAC TAGAAATACAAAAATTAGCCGGGCATGGTGGCTCGCGCCTGTAGTCCCAG CTTACTCTGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGAGG TTGCAGTGAGCCAGGATCGAGCCATTGCATTCCAGTCTGGGAGACAAGAG CAAGACCCCATCTCAAAATAAATAAATAAATAGGCCGGGCACAGTGGCTC ACA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0296 a0010c0017t0001g0296	1	356	0.0028	-302	c.97+ others(13): Show c.97+365_97+666del	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8orf82_chr8_144520733_144534111	144531294	AAGGGCAC others(295): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02257.hp1 HG02015.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0018 a0001c0002t0002 a0001c0003t0018	a0001c0002t0002g0009 a0001c0003t0018g0053 a0001c0002t0002g0009 a0001c0003t0018g0053	2	398	0.0050	-302	c.-26 others(11): Show c.-2680_-2379del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2184		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531471	AAGGGCAC others(295): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	398	0.0025	-302	c.-28 others(11): Show c.-2857_-2556del	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2361		chr8	TogoVar
CACNA1B_chr9_137872782_138129619	138126704	GCCCCGGC others(295): Show GCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGT GAGCAAGAGGGCACTGCAGTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGG GGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCC GCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAG TGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00673.hp1 others(18): Show HG00438.hp1 HG00597.hp1 HG00673.hp1 HG01943.hp1 HG02040.hp2 HG02074.hp2 HG03704.hp2 NA18747.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18980.hp1 NA18983.hp2 NA18995.hp2 NA19000.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19080.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0012 others(1): Show a0001c0002 a0001c0005 a0001c0012 a0001c0013	a0001c0002t0004 a0001c0005t0004 a0001c0012t0004 others(2): Show a0001c0002t0004 a0001c0005t0004 a0001c0012t0004 a0001c0013t0008 a0001c0013t0014	a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 others(18): Show a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0005t0004g0007 a0001c0005t0004g0028 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0184 a0001c0012t0004g0040 a0001c0013t0008g0066 a0001c0013t0014g0158	21	248	0.0847	-302	c.47 others(11): Show c.4706_*5007del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2086		chr9	TogoVar
CCDC73_chr11_32597721_32799662	32755927	CTATATAT others(295): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTATATATATATCTCCATATATATATCTATATATATATCTCCAT ATATATATCTATATATATATCTCCATATATATATCTATATATATATCTCC ATATATATATCTATATATATATCTCCATATATATATCTATATATATATCT CCA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	312	0.0032	-302	c.135 others(17): Show c.135+3880_135+4181del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CDC123_chr10_12191188_12255589	12247157	GCACCGTG others(295): Show GCACCGTGTCCCCCTCTCTCACCTCCCCCTCAGGACACTGTCCTCCTCTC TCACCTCCCACTCTGGACACTGTGTCCTCCTCTCTCTCACCTCCCCCTCA GGACACTGTCCTCCTCTCTCACCTCCCACTCCGGACACTGTGTCCTCCTC TCTCACCTCCCCCTCAGGACACTGTGTCCTCCTCTCTCACCTCCCCCTAA GGACACTGTCCTCTTCTCGCACCTCCCACTCTGGACACTGTGTCCTCCTC TCTCACCTCCCACTCCGGACACTGTGTCCTCCTCTCTCACCTCCCCCTCA GGA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	392	0.0026	-302	c.846 others(16): Show c.846+921_846+1222del	CDC123	ENSG00000151465.14	transcript	ENST00000281141.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CLIP2_chr7_74284407_74410935	74369854	CAAAAAAA others(295): Show CAAAAAAAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGC TCCAAACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAATAC AAAAATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCGGA AGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGAGC CAGGCTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCTGCC TCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0142 a0001c0019t0007g0142	1	278	0.0036	-302	c.138 others(19): Show c.1381-3058_1381-2757del	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL18A1_chr21_45400165_45518720	45501782	CTCCACAG others(295): Show CTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC TCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCA GAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC CCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAG GGG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0005 a0005	a0005c0036 a0005c0036	a0005c0036t0001 a0005c0036t0001	a0005c0036t0001g0245 a0005c0036t0001g0245	1	292	0.0034	-302	c.268 others(19): Show c.2684-2228_2684-1927del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41			chr21	TogoVar
CPNE2_chr16_57087583_57153369	57120005	TCTCATGC others(295): Show TCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGGTCAC TGGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGGAAAACCCCATC TCTACTAAAAATACAAAAATTAGCCGAGCATGGCGGTGCACGCCTGTAGT CCCAGCTACTCAGGAGCCTGAGGCAGGAGAATCACTTGAATGTGGGAGGC GGAGGTTGCAGAGCCCAGATTGAGCCACTGCACTCCAGCATGGGTAACAG AGCAAGATTCTGTCTCAAAAAAAAAAAAAAAAGTTATAGGCCGGGCGCGG TGG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	362	0.0028	-302	c.681 others(15): Show c.681+388_681+689del	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr16	TogoVar

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Search Results (Total: 10000 hits)