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
PLD6_chr17_17195995_17211333	17209922	ATCAGGTG others(299): Show ATCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTG TGAGCCACCGTGCCTGGCCGTTTGTGTTTATTTTTTATTTTTTGAGACAG AGTCTCGCTTTGCTGCCCAGACAGGAGTGCCATGGGGCCATCTCAGCTCA CTGCAACCTCCACCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT GAGCAGCTGGGATTACAGGTGCCTGACACCACGCCTAGCTAATTTTTGTA CTTTTAGTAGAGATGGGAGTTCACCATGTTGGCCAGGCTGGTCTCGAACA CCTGACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0028 a0001c0003t0002g0028	1	436	0.0023	-306	c.-39 others(11): Show c.-3942_-3637del	PLD6	ENSG00000179598.6	transcript	ENST00000321560.4	protein_coding		3590		chr17	TogoVar
PRKCB_chr16_23830983_24225611	23899565	AATTACTT others(299): Show AATTACTTTTGTTCATTTGTAATTACTTATCCATAAGAACTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTG TGTGGTTTGTTGTCACCTGGGCTGGAGTGCAGTGATGCGACCATGGCTCA CTATATTCAAAATCCTGGGCTCATGCGATCCTCCCACCTCAGCCTTCTGA GGAGCTGGGACCGTAGGCACGTGCCACCAGGCCCAGCAAATAAAATTTAT TTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT ATTGTAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG01070.hp2 others(61): Show HG00609.hp1 HG00738.hp2 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02132.hp1 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18970.hp1 NA18983.hp1 NA18991.hp1 NA18998.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0015 a0002c0017	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(55): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0028 a0001c0001t0042 a0001c0001t0046 a0001c0001t0056 a0001c0001t0058 a0001c0001t0066 a0001c0001t0079 a0001c0001t0081 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0018 a0001c0002t0023 a0001c0002t0034 a0001c0002t0035 a0001c0002t0043 a0001c0002t0050 a0001c0002t0055 a0001c0002t0070 a0001c0002t0084 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0024 a0001c0003t0026 a0001c0003t0047 a0001c0003t0064 a0001c0003t0074 a0001c0003t0085 a0001c0004t0002 a0001c0004t0007 a0001c0004t0009 a0001c0004t0077 a0001c0005t0003 a0001c0005t0004 a0001c0005t0051 a0001c0006t0002 a0001c0006t0082 a0001c0007t0022 a0001c0008t0016 a0001c0008t0037 a0001c0009t0038 a0001c0010t0006 a0001c0011t0002 a0001c0013t0048 a0001c0015t0030 a0002c0017t0027	a0001c0001t0003g0075 a0001c0001t0004g0087 a0001c0001t0005g0078 others(61): Show a0001c0001t0003g0075 a0001c0001t0004g0087 a0001c0001t0005g0078 a0001c0001t0007g0005 a0001c0001t0010g0053 a0001c0001t0015g0074 a0001c0001t0019g0146 a0001c0001t0021g0006 a0001c0001t0028g0051 a0001c0001t0042g0001 a0001c0001t0046g0029 a0001c0001t0056g0109 a0001c0001t0058g0072 a0001c0001t0066g0007 a0001c0001t0079g0142 a0001c0001t0081g0081 a0001c0002t0002g0017 a0001c0002t0003g0061 a0001c0002t0012g0145 a0001c0002t0012g0148 a0001c0002t0018g0002 a0001c0002t0018g0088 a0001c0002t0023g0080 a0001c0002t0034g0085 a0001c0002t0035g0139 a0001c0002t0043g0059 a0001c0002t0050g0008 a0001c0002t0055g0114 a0001c0002t0070g0045 a0001c0002t0084g0066 a0001c0003t0001g0064 a0001c0003t0001g0069 a0001c0003t0002g0033 a0001c0003t0003g0086 a0001c0003t0004g0076 a0001c0003t0007g0062 a0001c0003t0007g0063 a0001c0003t0008g0140 a0001c0003t0024g0057 a0001c0003t0026g0113 a0001c0003t0047g0055 a0001c0003t0064g0147 a0001c0003t0074g0141 a0001c0003t0085g0073 a0001c0004t0002g0009 a0001c0004t0002g0010 a0001c0004t0002g0039 a0001c0004t0007g0041 a0001c0004t0009g0092 a0001c0004t0077g0091 a0001c0005t0003g0042 a0001c0005t0004g0036 a0001c0005t0051g0040 a0001c0006t0002g0035 a0001c0006t0082g0093 a0001c0007t0022g0089 a0001c0008t0016g0125 a0001c0008t0037g0123 a0001c0009t0038g0056 a0001c0010t0006g0144 a0001c0011t0002g0136 a0001c0013t0048g0047 a0001c0015t0030g0004 a0002c0017t0027g0077	64	148	0.4324	-306	c.205 others(19): Show c.205+62161_205+62466del	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122551	ACGGTGGT others(299): Show ACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGT GGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTG TGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTG GTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGT GGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTG GTTAGGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	286	0.0035	-306	c.335 others(19): Show c.335-12710_335-12405del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122553	GGTGGTGG others(299): Show GGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGG CGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTG GTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGT GGTTAGGGTTGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGG TTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGT TAGGGTT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG02976.hp2 others(2): Show HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0176 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0106 a0001c0001t0001g0176 a0001c0001t0001g0237 a0001c0001t0008g0241	5	286	0.0175	-306	c.335 others(19): Show c.335-12693_335-12388del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPSAP2_chr17_18853131_18936287	18903166	CCCTGTAA others(299): Show CCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCTCCTGAGG TCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCCAGAT CGTGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCATCAAATA AATAAATGAATGAATGAACGTGTGTTTTAGTATGGAGATGAGTGCTACAA AAGGTTCAGTTTTATATGGAACAGGTAGTAAAATAACACAGTCAAGGCTT AGGAGTTTGGTCTGTGAGTTTAAGGTATTGTGAGTGGGCTAGGCTCGATG GCTCACA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02572.hp1 NA20300.hp1 HG01433.hp2 HG02572.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0160 a0001c0002t0002g0163 a0001c0002t0002g0164	3	392	0.0077	-306	c.585 others(17): Show c.585-7910_585-7605del	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
RILPL1_chr12_123465054_123538719	123510372	GTGTGTGT others(299): Show GTGTGTGTGTGTGGTGTGTGAGGTCTGTGTGTGGTGTCAATGTGAGGTCT GTGTCTGGTGTGTGTGTGAGGTCTGTGTGTGTGAATGTGGGGTCTGTGTG TGTGGGGTATATGTGTGTGATGTGTGTGTGTAGTGTGTGAGGTCTGTGTA TGGTGTGTGTGAGGTCTGTGTGTGGTGTCAATGTGAGGTCTGTGTCTGGT GTGTGTGTGAGGTCTGTGTGTGTGAATGTGGGGTCTGTGTGTGTGTGGTA TATGTGTGTGATGTGTGTGTGTAGTGTGTGAGGTCTGTGTATGGTGTGTG TGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0135 a0001c0002t0006g0135	1	210	0.0048	-306	c.461 others(19): Show c.461-11142_461-10837del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RPS6KA6_chrX_84053350_84193199	84191575	CATATATA others(299): Show CATATATATATATATCCATATATATATCCATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(70): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01884.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02083.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02602.hp1 HG02683.hp1 HG03017.hp1 HG03490.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA19091.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0024 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0084 a0001c0001t0092 a0001c0001t0093 a0001c0001t0111 a0002c0002t0003 a0002c0002t0045	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(66): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0002g0155 a0001c0001t0004g0001 a0001c0001t0004g0098 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0126 a0001c0001t0004g0130 a0001c0001t0004g0137 a0001c0001t0004g0142 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0010g0116 a0001c0001t0010g0133 a0001c0001t0010g0138 a0001c0001t0010g0139 a0001c0001t0024g0143 a0001c0001t0024g0144 a0001c0001t0034g0015 a0001c0001t0035g0016 a0001c0001t0040g0027 a0001c0001t0041g0026 a0001c0001t0050g0128 a0001c0001t0051g0120 a0001c0001t0052g0121 a0001c0001t0055g0105 a0001c0001t0056g0127 a0001c0001t0057g0097 a0001c0001t0058g0109 a0001c0001t0059g0129 a0001c0001t0060g0151 a0001c0001t0061g0152 a0001c0001t0062g0140 a0001c0001t0063g0106 a0001c0001t0084g0103 a0001c0001t0092g0134 a0001c0001t0093g0136 a0001c0001t0111g0259 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0051 a0002c0002t0045g0052	73	272	0.2684	-306	c.-39 others(11): Show c.-3982_-3677del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3377		chrX	TogoVar
RPTOR_chr17_80539838_80971368	80743911	CCCTGGTT others(299): Show CCCTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTATCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTATCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	196	0.0051	-306	c.655 others(18): Show c.655-10093_655-9788del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744541	CCCTGGCT others(299): Show CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCAGAGCCCTGGCTAC TAGCACTCTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0092 a0005c0092	a0005c0092t0012 a0005c0092t0012	a0005c0092t0012g0163 a0005c0092t0012g0163	1	196	0.0051	-306	c.655 others(17): Show c.655-9409_655-9104del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRP12_chr10_97351701_97406340	97398047	TTTTTTTT others(299): Show TTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02970.hp2 HG03017.hp1 others(8): Show HG01943.hp2 HG02970.hp2 HG03017.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03704.hp1 NA18946.hp2 NA18979.hp2 NA19012.hp2 NA19065.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0006 a0001c0007 a0001c0008 others(2): Show a0001c0006 a0001c0007 a0001c0008 a0003c0002 a0010c0035	a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 others(3): Show a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0004 a0003c0002t0001 a0010c0035t0001	a0001c0006t0001g0262 a0001c0007t0001g0261 a0001c0008t0001g0260 others(8): Show a0001c0006t0001g0262 a0001c0007t0001g0261 a0001c0008t0001g0260 a0001c0008t0004g0216 a0003c0002t0001g0259 a0003c0002t0001g0263 a0003c0002t0001g0275 a0003c0002t0001g0332 a0003c0002t0001g0333 a0003c0002t0001g0334 a0010c0035t0001g0342	11	400	0.0275	-306	c.369 others(17): Show c.369+1952_370-1747del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
S1PR4_chr19_3173769_3185332	3174748	CTCATGGG others(299): Show CTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGC CTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCAT GGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCCTGT GTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGGGA CGCCTGTGCCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCC CTCATGGGACACCTGTGCCCTCATGGGACGCCTGTGCCCTCATGGGACGC CTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	418	0.0024	-306	c.-40 others(11): Show c.-4044_-3739del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4020		chr19	TogoVar
SCUBE1_chr22_43192280_43348372	43280970	TCCTGTCA others(299): Show TCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTC TGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGT CACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCAC CTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTC CCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCT CCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCT CAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01081.hp2 others(4): Show HG00099.hp2 HG00735.hp1 HG01081.hp2 HG02895.hp1 HG03195.hp1 HG03486.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0008 a0001c0010 others(2): Show a0001c0003 a0001c0008 a0001c0010 a0001c0044 a0002c0002	a0001c0003t0003 a0001c0008t0009 a0001c0010t0091 others(3): Show a0001c0003t0003 a0001c0008t0009 a0001c0010t0091 a0001c0044t0035 a0002c0002t0002 a0002c0002t0068	a0001c0003t0003g0090 a0001c0008t0009g0248 a0001c0010t0091g0275 others(4): Show a0001c0003t0003g0090 a0001c0008t0009g0248 a0001c0010t0091g0275 a0001c0044t0035g0212 a0002c0002t0002g0146 a0002c0002t0002g0153 a0002c0002t0068g0186	7	280	0.0250	-306	c.484 others(18): Show c.484+9770_484+10075del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SLC35E2B_chr1_1656478_1697795	1679556	GTGGCTCA others(299): Show GTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGAT CACCTGAGCTCAGGAGTTCATGACCAGCCTGGCAAACACAGCAAAACCCC GTCTCTACTAAAAGTACAAAAAAAAAATCAGCCGGGTGTGGTGGCTGGCA CCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACC TGGAAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCATTGCACCCCAGCC TGAGCAACAGAGCGAGACTCCCGTCAAAAAAAAAAAAAAAAAAAATGCTG GGCGCGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0103 a0002c0002t0103	a0002c0002t0103g0334 a0002c0002t0103g0334	1	348	0.0029	-306	c.-14 others(19): Show c.-147-3016_-147-2711del	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding	2/9			chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79919883	TGAGGAGA others(299): Show TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACA GGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGA GAGGTCAGGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGT CAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAG GGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp1 HG02109.hp1 others(1): Show HG01106.hp1 HG02055.hp1 HG02109.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0225 a0001c0001t0002g0226 others(1): Show a0001c0001t0002g0161 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227	4	352	0.0114	-306	c.392 others(15): Show c.392-789_392-484del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920961	ACGGGAAC others(299): Show ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGA GAGATGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCG AGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAG GAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0233 a0001c0001t0036g0233	1	352	0.0028	-306	c.392 others(17): Show c.392-1867_392-1562del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
TECPR2_chr14_102357941_102507477	102379836	AGTCACAC others(299): Show AGTCACACTGCTGAAGATCACAGTCTTAAAATCCATGCACAGAGGCGTCC TAGTCACACTGCTGAAGATCACCATCTTAAAATCCATGCACAGAGGCACC CTAGTCACACTGCTGAAGATCACCATCTTAAAATCCATGCACAGAGGCGT CCTAGTCACACTGCTGAAGATCACCATCTTAAAATCCGTGCACAGAGGCG TCCTAGTCACACTGCTGAAGATCACAGTCTTAAAATCCATGCACAGAGGC ACCCTAGTCACACTGCTGAAGATCACCATCTTAAAATCCATGCACAGAGG CGTCCTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02723.hp1 HG00733.hp1 HG02723.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0022 a0001c0001 a0014c0022	a0001c0001t0031 a0014c0022t0041 a0001c0001t0031 a0014c0022t0041	a0001c0001t0031g0036 a0014c0022t0041g0321 a0001c0001t0031g0036 a0014c0022t0041g0321	2	334	0.0060	-306	c.219 others(17): Show c.219+2942_219+3247del	TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
TNK2_chr3_195858364_195913551	195880871	CCCGCCCC others(299): Show CCCGCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTA ACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTA ACACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTC TAACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCC TCTAACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCC TGTAACACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCC TGTAACA	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0060 a0001c0011t0001g0060	1	372	0.0027	-306	c.887 others(16): Show c.887+874_887+1179del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TRIM67_chr1_231157058_231226565	231167319	CTTTTTTT others(299): Show CTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(88): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18984.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19004.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0019 a0001c0023 a0001c0024 a0001c0026 a0005c0021 a0006c0025	a0001c0001t0008 a0001c0001t0026 a0001c0001t0027 others(32): Show a0001c0001t0008 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0062 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0001c0003t0055 a0001c0003t0056 a0001c0003t0057 a0001c0003t0058 a0001c0003t0059 a0001c0003t0060 a0001c0004t0001 a0001c0004t0005 a0001c0004t0010 a0001c0004t0013 a0001c0004t0015 a0001c0004t0020 a0001c0004t0041 a0001c0005t0021 a0001c0005t0061 a0001c0009t0005 a0001c0009t0035 a0001c0010t0021 a0001c0011t0006 a0001c0019t0033 a0001c0023t0039 a0001c0024t0004 a0001c0026t0042 a0005c0021t0031 a0006c0025t0010	a0001c0001t0008g0339 a0001c0001t0008g0341 a0001c0001t0008g0342 others(88): Show a0001c0001t0008g0339 a0001c0001t0008g0341 a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345 a0001c0001t0008g0347 a0001c0001t0026g0061 a0001c0001t0026g0062 a0001c0001t0027g0065 a0001c0001t0027g0066 a0001c0001t0030g0340 a0001c0001t0032g0349 a0001c0001t0034g0063 a0001c0001t0062g0067 a0001c0003t0006g0069 a0001c0003t0006g0075 a0001c0003t0006g0077 a0001c0003t0006g0079 a0001c0003t0006g0080 a0001c0003t0006g0081 a0001c0003t0006g0082 a0001c0003t0006g0083 a0001c0003t0006g0084 a0001c0003t0006g0085 a0001c0003t0006g0087 a0001c0003t0006g0088 a0001c0003t0006g0089 a0001c0003t0006g0090 a0001c0003t0006g0092 a0001c0003t0006g0095 a0001c0003t0006g0099 a0001c0003t0006g0100 a0001c0003t0006g0110 a0001c0003t0006g0114 a0001c0003t0006g0115 a0001c0003t0007g0073 a0001c0003t0007g0074 a0001c0003t0007g0078 a0001c0003t0007g0094 a0001c0003t0007g0098 a0001c0003t0007g0104 a0001c0003t0007g0105 a0001c0003t0007g0106 a0001c0003t0007g0107 a0001c0003t0007g0108 a0001c0003t0007g0109 a0001c0003t0007g0113 a0001c0003t0012g0068 a0001c0003t0012g0070 a0001c0003t0012g0071 a0001c0003t0012g0072 a0001c0003t0012g0102 a0001c0003t0055g0112 a0001c0003t0056g0091 a0001c0003t0057g0064 a0001c0003t0058g0076 a0001c0003t0059g0086 a0001c0003t0060g0101 a0001c0004t0001g0008 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0019 a0001c0004t0005g0016 a0001c0004t0010g0007 a0001c0004t0010g0013 a0001c0004t0010g0014 a0001c0004t0010g0022 a0001c0004t0010g0027 a0001c0004t0013g0012 a0001c0004t0013g0020 a0001c0004t0013g0021 a0001c0004t0015g0009 a0001c0004t0015g0017 a0001c0004t0020g0023 a0001c0004t0020g0024 a0001c0004t0020g0025 a0001c0004t0041g0006 a0001c0005t0021g0096 a0001c0005t0021g0111 a0001c0005t0061g0103 a0001c0009t0005g0018 a0001c0009t0035g0029 a0001c0010t0021g0097 a0001c0011t0006g0093 a0001c0019t0033g0348 a0001c0023t0039g0005 a0001c0024t0004g0026 a0001c0026t0042g0028 a0005c0021t0031g0346 a0006c0025t0010g0015	91	354	0.2571	-306	c.104 others(19): Show c.1044+3318_1044+3623del	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBGCP5_chr15_22994177_23044569	23040714	GGAGGTGC others(299): Show GGAGGTGCTGGGGGGCGGGGGGAACTTCGTAACCCCACCTGGCCAGAGGT GCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGAT TTCATAACCCCACCTGACCAGGGGTGCTGGGGGGACATCATAACCTCACC TGGCCAGAGGTGCTGGGGGGTATCATAATCTGACCTGGCCAGAGATGCTG GGGGGACATCATAACCCCACCTGGCCAGAGGTGTTGTGGGGCCATCATAA CCCCAGCTGGCCGGAGGTGCTGGGGGGCGGGGGGAACTTCTTAACCCCAC CTGGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02155.hp2 others(10): Show HG01243.hp2 HG01346.hp1 HG02155.hp2 HG03471.hp1 HG03927.hp2 HG04199.hp1 NA18522.hp2 NA18953.hp1 NA18956.hp2 NA18962.hp2 NA18972.hp1 NA18980.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0279 others(8): Show a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0283 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293	13	351	0.0370	-306	c.-14 others(11): Show c.-1477_-1172del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		1146		chr15	TogoVar
WRAP73_chr1_3625770_3655103	3644115	CAGCGGCC others(299): Show CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGG GGATCCAGTGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCAGAAG GGGACCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp1 HG03195.hp1 others(2): Show HG02818.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0017 a0001c0006t0001g0060 a0001c0006t0001g0061 a0001c0006t0001g0017 a0001c0006t0001g0060 a0001c0006t0001g0061	5	382	0.0131	-306	c.339 others(17): Show c.339+2245_339+2550del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
XRCC4_chr5_83072547_83358760	83186937	TTCCATTT others(299): Show TTCCATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGACCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACCACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGG GTTTCACCGCGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCG CCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(105): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18990.hp1 NA18994.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19075.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0009 a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(105): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0255 a0001c0001t0002g0008 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0207 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0005g0022 a0001c0001t0005g0225 a0001c0001t0008g0184 a0001c0001t0011g0217 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0085 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0219 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0231 a0001c0002t0001g0239 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0009g0203 a0002c0003t0001g0090 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0226 a0002c0003t0001g0227 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0249 a0002c0004t0001g0141 a0002c0004t0002g0091 a0002c0004t0002g0142 a0002c0004t0002g0238 a0002c0004t0003g0241 a0003c0005t0001g0006 a0003c0005t0001g0023 a0003c0005t0001g0024 a0004c0007t0001g0069 a0004c0007t0001g0248	108	262	0.4122	-306	c.316 others(17): Show c.316-8823_316-8518del	XRCC4	ENSG00000152422.16	transcript	ENST00000396027.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABCG1_chr21_42214140_42302244	42283713	ACCACCCA others(298): Show ACCACCCACCACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGG ACAGTTGTGAAGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACC CCCCCACCTCTGTCCCGCCTGGACAGTTGCAAAGTCCCCCCGCCCAGATG AGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTGCGAAGTCCCCC CCGCCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCTGGACAGTTG CGAAGT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0285 a0001c0001t0015g0285	1	354	0.0028	-305	c.735 others(15): Show c.735-844_735-540del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACO2_chr22_41464117_41533974	41474362	CGGCTCAC others(298): Show CGGCTCACTGCAAGCTCTGCTTCCTGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCGAGTTGCTGGGACTACAGGCGCCTGCCACCACGTCTGGCTAAT TTTTTGTGTGTTTTTAGTAGAGACGGGTTTCACGTGTTAGCCAGGATGGT CTCAATCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCTAGCCTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGC GATCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp2 HG03209.hp1 others(2): Show HG02257.hp2 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 others(2): Show a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0006t0002g0154 a0001c0006t0002g0157	5	334	0.0150	-305	c.36+ others(15): Show c.36+5197_36+5501del	ACO2	ENSG00000100412.17	transcript	ENST00000216254.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARL15_chr5_53878942_54315573	53881098	TAAAACCA others(298): Show TAAAACCAGCTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(160): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009	a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 others(160): Show a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0165 a0001c0001t0002g0173 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0094 a0001c0001t0003g0152 a0001c0001t0004g0119 a0001c0001t0004g0123 a0001c0001t0004g0179 a0001c0001t0004g0190 a0001c0001t0004g0204 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0166 a0001c0001t0005g0181 a0001c0001t0006g0064 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0121 a0001c0001t0007g0096 a0001c0001t0007g0122 a0001c0001t0007g0150 a0001c0001t0007g0188 a0001c0001t0008g0102 a0001c0001t0008g0127 a0001c0001t0008g0136 a0001c0001t0009g0197 a0001c0001t0011g0120 a0001c0001t0012g0186 a0001c0001t0013g0164 a0001c0001t0014g0158 a0001c0001t0015g0182 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0040 a0001c0002t0005g0043 a0001c0002t0006g0032 a0001c0002t0007g0028 a0001c0002t0009g0039	163	206	0.7913	-305	c.51 others(11): Show c.5158_*5462del	ARL15	ENSG00000185305.12	transcript	ENST00000504924.6	protein_coding		2843		chr5	TogoVar
ASCL4_chr12_107769704_107781644	107772398	TTCCCAAA others(298): Show TTCCCAAAGTGCTGAGATTACAGGCGTGAGCTACTGTGCCCAGCCTCGCC TTTTTTTTTTTTTTTTTGAGACTGGGTCTTGCTCTGTCACCCAGGCTGGA GTGCAGTGGCGTGATCTTGGCTCAGTACAACCTCCGCCTCCAGGATTCAA GTGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGC TACAACGCCTGACTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCGCC ACGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACT TTGGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03579.hp1 HG02109.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	462	0.0043	-305	c.-28 others(11): Show c.-2820_-2516del	ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding		2305		chr12	TogoVar
ATP11A_chr13_112685038_112892168	112804052	TCCTCCTT others(298): Show TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCT TCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCC CCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTT CCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCC TTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCT CGTTCC	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0136 a0001c0028t0002g0136	1	254	0.0039	-305	c.163 others(15): Show c.163-835_163-531del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BCL11B_chr14_99164287_99277197	99185473	AGTAATGT others(298): Show AGTAATGTTCAAGCCAGACACAGAGAACCGGAGGTGCCCAGGCCAAGGAG GGAAAGGTCCGCAAGGTAGGGAGCTGTGTGAGCACACTCAAGGTGCAGGG CGCTGGGCCACGCGACGCAGAAAGCAGCTCTGTTTGCTATAGAATGAGGC AGGTCGGGGGAAATGGGAAATGCAACCGGAGAGGCAAATATATACCCAAG AGCATTCCACAAAAGGGGTCTCCATCCAGTGCAGGCCTGGCTCATTCCAC AGGGCTGTCCTTACTCCCGCACACTCGCCCTCCTGACCCAGGGTAAGTGT TAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	350	0.0029	-305	c.641 others(17): Show c.641-9583_641-9279del	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
CYTH1_chr17_78669048_78787273	78690389	ATCTCAAA others(298): Show ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGT ATTTACTGCTGGGTGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCT GGCCAACATGGTGAAACCCCATCCCATCTCTACTTAAAAAACAGAAAACA AAACAAAAAAAAACGGATGTGGTGGCGCACGCCTCTAGTCCCAGCTACTC AGGAGGCTGAGATGGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAG TGAGCTAAGATCACACCACCACTACACTCCAGCCTGGGAGACAGAGCGAG ACTCCG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0136 a0001c0001t0016g0136	1	378	0.0027	-305	c.891 others(17): Show c.891+1723_891+2027del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	11/13			chr17	TogoVar
DEFB136_chr8_11968937_11979599	11969428	TGGCCTCC others(298): Show TGGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACTGCACCCAGCCA ATTTCCTCCATTTTTTTTTTTTTTTTTTTTTTATTGAGACAGAGTCTCAC TCTGTCGCCCAGGCTGGATGGAATGCAGTGGTGTGATCTCGGCTCACTGC GAGCTCCGCCATTCTCTGTCTCAGCCTCCGGAATAGCTGGGACTACAGGT GCCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATTTCCTGACCTCGTGATCCGCC CACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02129.hp2 HG03831.hp2 others(5): Show HG01943.hp1 HG02129.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 NA18978.hp2 NA19000.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	8	426	0.0188	-305	c.42 others(11): Show c.4204_*4508del	DEFB136	ENSG00000205884.2	transcript	ENST00000382209.2	protein_coding		4508		chr8	TogoVar
DHRS12_chr13_51762993_51809163	51775390	TCTCCTAC others(298): Show TCTCCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACAT GTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTA TTCTCCTACATGTATTCTACAGTATTCTCCTACAGTATTCTCCTACATGT ATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCT CCTACATGTATTCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTA TTCTACAGTATTCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGT ATTCTC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	420	0.0024	-305	c.363 others(17): Show c.363+1365_364-1357del	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DMRT1_chr9_836697_974090	861766	GGAGATGC others(298): Show GGAGATGCTCCCCACTTCCCAGACGGGGCGGCTGCCGGGCGGGGGGGGGC TCCTTCAGACGGGGCGGCCGGTCAGAGACGCTCCTCACCTCCCAGACGGG GTCGCGGCCGGGCAGAGGCACTCTTCACATCCCAGATGGGGCGGCGGGGC AGAGGCGCTCCCAACATCCCAGATGATGGGCGGGCGGGCAGAGACGCTCC TCACTTCCTAGACGGGATGACGGCCGGGAAGAGGTGCTCCTCACTTCCCA GACTGGGCGGCCGGGCGGAGGGGCTCCTCACATCCCAGACGATGGGCGGC CAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0269 a0001c0001t0001g0209 a0001c0001t0001g0269	2	306	0.0065	-305	c.538 others(19): Show c.538+14628_538+14932del	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJB6_chr7_157332004_157422439	157369582	TTTCTCAA others(298): Show TTTCTCAACATTATTATTAAATAGGCCCCTTCTTAACATTGTTATTAAAG AGGCCCTTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTA TTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACAT TATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCAT AACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCT TTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACA GGCCCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp1 HG02895.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0136 a0001c0001t0003g0096 a0001c0001t0003g0136	2	372	0.0054	-305	c.346 others(17): Show c.346+2120_346+2424del	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK8_chr9_209865_470255	320432	TCAGAGAT others(298): Show TCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGACCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCAGAG ATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2	a0002 a0010 a0002 a0010	a0002c0020 a0010c0106 a0002c0020 a0010c0106	a0002c0020t0003 a0010c0106t0008 a0002c0020t0003 a0010c0106t0008	a0002c0020t0003g0038 a0002c0020t0003g0039 a0010c0106t0008g0075 a0002c0020t0003g0038 a0002c0020t0003g0039 a0010c0106t0008g0075	3	256	0.0117	-305	c.827 others(17): Show c.827+3487_827+3791del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	380207	GCTTGGAG others(298): Show GCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAG ATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAACCCCAGCACTCT AGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTCACATCTGCAAC CCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGGAGCAGTGGCTC ACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCAGGATCGCTTGG AGCAGTGGCTCACATCTGCAACCCCAGCACTCTAGGAGGCTGAGATGGCA GGATCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG01081.hp1 others(42): Show HG00544.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01433.hp2 HG01515.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02293.hp2 HG02486.hp1 HG02572.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18968.hp1 NA18970.hp2 NA18994.hp2 NA18997.hp1 NA19010.hp2 NA19070.hp1 NA19074.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0006 a0008 a0011 a0012 a0014 a0018 a0023 a0025 a0030 a0037 a0044	a0001c0033 a0001c0049 a0001c0051 others(30): Show a0001c0033 a0001c0049 a0001c0051 a0001c0061 a0001c0062 a0001c0063 a0002c0005 a0002c0006 a0002c0008 a0002c0021 a0002c0111 a0002c0112 a0003c0001 a0003c0004 a0003c0138 a0004c0042 a0004c0043 a0006c0010 a0006c0025 a0006c0026 a0006c0027 a0006c0028 a0008c0120 a0011c0161 a0012c0148 a0014c0034 a0014c0058 a0018c0086 a0023c0143 a0025c0126 a0030c0084 a0037c0029 a0044c0037	a0001c0033t0004 a0001c0049t0013 a0001c0051t0004 others(31): Show a0001c0033t0004 a0001c0049t0013 a0001c0051t0004 a0001c0061t0001 a0001c0062t0001 a0001c0063t0002 a0002c0005t0001 a0002c0006t0001 a0002c0008t0001 a0002c0021t0001 a0002c0021t0005 a0002c0111t0010 a0002c0112t0001 a0003c0001t0001 a0003c0004t0001 a0003c0138t0001 a0004c0042t0002 a0004c0043t0001 a0006c0010t0001 a0006c0025t0001 a0006c0026t0001 a0006c0027t0002 a0006c0028t0001 a0008c0120t0002 a0011c0161t0002 a0012c0148t0017 a0014c0034t0004 a0014c0058t0001 a0018c0086t0006 a0023c0143t0001 a0025c0126t0002 a0030c0084t0003 a0037c0029t0001 a0044c0037t0003	a0001c0033t0004g0125 a0001c0049t0013g0219 a0001c0051t0004g0059 others(42): Show a0001c0033t0004g0125 a0001c0049t0013g0219 a0001c0051t0004g0059 a0001c0061t0001g0080 a0001c0062t0001g0164 a0001c0063t0002g0163 a0002c0005t0001g0096 a0002c0006t0001g0116 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0006t0001g0237 a0002c0006t0001g0238 a0002c0008t0001g0111 a0002c0008t0001g0112 a0002c0008t0001g0113 a0002c0008t0001g0114 a0002c0021t0001g0242 a0002c0021t0005g0250 a0002c0111t0010g0248 a0002c0112t0001g0224 a0003c0001t0001g0130 a0003c0001t0001g0154 a0003c0004t0001g0161 a0003c0138t0001g0143 a0004c0042t0002g0197 a0004c0043t0001g0245 a0006c0010t0001g0183 a0006c0010t0001g0185 a0006c0010t0001g0187 a0006c0025t0001g0186 a0006c0026t0001g0184 a0006c0027t0002g0193 a0006c0028t0001g0211 a0008c0120t0002g0225 a0011c0161t0002g0234 a0012c0148t0017g0070 a0014c0034t0004g0128 a0014c0058t0001g0021 a0018c0086t0006g0030 a0023c0143t0001g0166 a0025c0126t0002g0122 a0030c0084t0003g0198 a0037c0029t0001g0047 a0044c0037t0003g0236	45	256	0.1758	-305	c.260 others(17): Show c.2605+577_2605+881del	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	21/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERAP2_chr5_96871500_96924703	96911883	AAAGAAAG others(298): Show AAAGAAAGAAAGAAAAGAAAAAAATGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAA ATCGAGACCATCCTGGCTAACACGGTGTAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGTGTGAACCCCGGGGGGCGGAGCCTGCA GTGAGCCCAGATCGCGCCACTGCACTCCAGCTTGGGCGACAGTGAGACTC CACCTC	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19068.hp2 NA18983.hp2 NA19068.hp2	a0000 a0000	a0000c0010 a0000c0010	a0000c0010t0014 a0000c0010t0014	a0000c0010t0014g0026 a0000c0010t0014g0026	2	398	0.0050	-305	c.235 others(17): Show c.2355-751_2355-447del	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM174A_chr5_100530374_100591741	100587829	TAAAATGT others(298): Show TAAAATGTTATTAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT GGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(161): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18969.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19065.hp1 NA19077.hp1 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0006 a0002c0003t0001 a0003c0004t0003 a0004c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(134): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0128 a0001c0001t0001g0166 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0247 a0001c0001t0002g0245 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0056 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0206 a0001c0001t0004g0030 a0001c0001t0004g0249 a0001c0001t0007g0089 a0001c0002t0001g0002 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0006g0237 a0002c0003t0001g0001 a0002c0003t0001g0064 a0002c0003t0001g0065 a0003c0004t0003g0036 a0003c0004t0003g0041 a0003c0004t0003g0248 a0004c0007t0001g0003	164	298	0.5503	-305	c.16 others(11): Show c.1646_*1950del	FAM174A	ENSG00000174132.9	transcript	ENST00000312637.5	protein_coding		1089		chr5	TogoVar
FAM234A_chr16_229821_271096	234031	TGCCTCGG others(298): Show TGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCCCTAGCCTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACACGGTCTGGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCAGTCTAAGCTCACTGCAACCTCCGCCT CCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACAGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTAAT CCGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	408	0.0025	-305	c.-96 others(9): Show c.-965_-661del	FAM234A	ENSG00000167930.17	transcript	ENST00000399932.8	protein_coding		789		chr16	TogoVar
GIGYF2_chr2_232692331_232865605	232803661	TCTATTTC others(298): Show TCTATTTCTGCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCCGCCTCCCAAAGTGCTGGGATT ACAGGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(298): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014	a0001c0002 a0001c0003 a0001c0005 others(18): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0016 a0002c0001 a0002c0006 a0002c0020 a0003c0004 a0003c0007 a0003c0014 a0004c0011 a0006c0012 a0007c0008 a0008c0024 a0009c0023 a0010c0022 a0011c0017 a0012c0015 a0013c0019 a0014c0021	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(41): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0025 a0001c0003t0003 a0001c0003t0006 a0001c0003t0027 a0001c0005t0001 a0001c0005t0008 a0001c0005t0022 a0001c0010t0001 a0001c0016t0026 a0002c0001t0002 a0002c0001t0004 a0002c0001t0009 a0002c0001t0013 a0002c0001t0015 a0002c0001t0016 a0002c0001t0018 a0002c0001t0029 a0002c0001t0030 a0002c0001t0031 a0002c0001t0032 a0002c0001t0033 a0002c0001t0034 a0002c0006t0007 a0002c0006t0028 a0002c0020t0004 a0003c0004t0001 a0003c0007t0001 a0003c0014t0001 a0004c0011t0001 a0006c0012t0007 a0007c0008t0001 a0008c0024t0008 a0009c0023t0001 a0010c0022t0019 a0011c0017t0001 a0012c0015t0003 a0013c0019t0004 a0014c0021t0003	a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 others(297): Show a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0003g0309 a0001c0002t0005g0193 a0001c0002t0005g0295 a0001c0002t0005g0296 a0001c0002t0005g0297 a0001c0002t0005g0298 a0001c0002t0005g0299 a0001c0002t0005g0302 a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0014g0178 a0001c0002t0014g0179 a0001c0002t0017g0175 a0001c0002t0017g0177 a0001c0002t0025g0242 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0011 a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0016 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0003g0134 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0140 a0001c0003t0003g0141 a0001c0003t0003g0143 a0001c0003t0003g0144 a0001c0003t0003g0148 a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0154 a0001c0003t0003g0155 a0001c0003t0003g0156 a0001c0003t0003g0157 a0001c0003t0003g0159 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0166 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0173 a0001c0003t0003g0174 a0001c0003t0006g0130 a0001c0003t0006g0142 a0001c0003t0006g0146 a0001c0003t0006g0160 a0001c0003t0006g0163 a0001c0003t0006g0167 a0001c0003t0006g0168 a0001c0003t0027g0172 a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0197 a0001c0005t0001g0198 a0001c0005t0001g0199 a0001c0005t0001g0204 a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0210 a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0213 a0001c0005t0001g0215 a0001c0005t0001g0216 a0001c0005t0001g0217 a0001c0005t0001g0218 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0222 a0001c0005t0001g0223 a0001c0005t0001g0225 a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0228 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0303 a0001c0005t0008g0201 a0001c0005t0008g0202 a0001c0005t0008g0203 a0001c0005t0008g0205 a0001c0005t0008g0232 a0001c0005t0022g0229 a0001c0010t0001g0206 a0001c0010t0001g0214 a0001c0016t0026g0176 a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0005 a0002c0001t0002g0006 a0002c0001t0002g0025 a0002c0001t0002g0026 a0002c0001t0002g0027 a0002c0001t0002g0028 a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0034 a0002c0001t0002g0043 a0002c0001t0002g0044 a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0047 a0002c0001t0002g0048 a0002c0001t0002g0049 a0002c0001t0002g0050 a0002c0001t0002g0051 a0002c0001t0002g0052 a0002c0001t0002g0053 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0057 a0002c0001t0002g0059 a0002c0001t0002g0060 a0002c0001t0002g0061 a0002c0001t0002g0063 a0002c0001t0002g0064 a0002c0001t0002g0065 a0002c0001t0002g0066 a0002c0001t0002g0067 a0002c0001t0002g0068 a0002c0001t0002g0069 a0002c0001t0002g0070 a0002c0001t0002g0071 a0002c0001t0002g0072 a0002c0001t0002g0073 a0002c0001t0002g0089 a0002c0001t0002g0104 a0002c0001t0002g0106 a0002c0001t0002g0109 a0002c0001t0002g0116 a0002c0001t0002g0117 a0002c0001t0002g0118 a0002c0001t0002g0119 a0002c0001t0002g0120 a0002c0001t0002g0121 a0002c0001t0002g0122 a0002c0001t0002g0123 a0002c0001t0002g0124 a0002c0001t0002g0128 a0002c0001t0002g0129 a0002c0001t0002g0131 a0002c0001t0002g0375 a0002c0001t0004g0002 a0002c0001t0004g0008 a0002c0001t0004g0014 a0002c0001t0004g0015 a0002c0001t0004g0022 a0002c0001t0004g0035 a0002c0001t0004g0036 a0002c0001t0004g0037 a0002c0001t0004g0038 a0002c0001t0004g0039 a0002c0001t0004g0040 a0002c0001t0004g0041 a0002c0001t0004g0074 a0002c0001t0004g0076 a0002c0001t0004g0077 a0002c0001t0004g0078 a0002c0001t0004g0080 a0002c0001t0004g0083 a0002c0001t0004g0084 a0002c0001t0004g0085 a0002c0001t0004g0086 a0002c0001t0004g0087 a0002c0001t0004g0090 a0002c0001t0004g0091 a0002c0001t0004g0092 a0002c0001t0004g0093 a0002c0001t0004g0094 a0002c0001t0004g0095 a0002c0001t0004g0096 a0002c0001t0004g0098 a0002c0001t0004g0099 a0002c0001t0004g0100 a0002c0001t0004g0101 a0002c0001t0004g0102 a0002c0001t0004g0103 a0002c0001t0004g0107 a0002c0001t0004g0108 a0002c0001t0004g0110 a0002c0001t0004g0112 a0002c0001t0004g0114 a0002c0001t0004g0115 a0002c0001t0004g0126 a0002c0001t0004g0127 a0002c0001t0009g0062 a0002c0001t0009g0081 a0002c0001t0009g0082 a0002c0001t0013g0147 a0002c0001t0015g0032 a0002c0001t0015g0033 a0002c0001t0016g0056 a0002c0001t0016g0058 a0002c0001t0018g0088 a0002c0001t0018g0111 a0002c0001t0029g0075 a0002c0001t0030g0007 a0002c0001t0031g0125 a0002c0001t0032g0079 a0002c0001t0033g0031 a0002c0001t0034g0042 a0002c0006t0007g0001 a0002c0006t0007g0370 a0002c0006t0007g0371 a0002c0006t0007g0372 a0002c0006t0028g0369 a0002c0020t0004g0105 a0003c0004t0001g0192 a0003c0004t0001g0245 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0274 a0003c0004t0001g0275 a0003c0004t0001g0276 a0003c0004t0001g0280 a0003c0004t0001g0281 a0003c0004t0001g0282 a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0004t0001g0293 a0003c0004t0001g0304 a0003c0004t0001g0357 a0003c0007t0001g0277 a0003c0007t0001g0278 a0003c0007t0001g0279 a0003c0007t0001g0288 a0003c0014t0001g0263 a0004c0011t0001g0207 a0004c0011t0001g0224 a0006c0012t0007g0373 a0006c0012t0007g0374 a0007c0008t0001g0252 a0007c0008t0001g0255 a0008c0024t0008g0200 a0009c0023t0001g0221 a0010c0022t0019g0180 a0011c0017t0001g0363 a0012c0015t0003g0145 a0013c0019t0004g0113 a0014c0021t0003g0158	301	376	0.8005	-305	c.164 others(19): Show c.1640-2814_1640-2510del	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTPBP6_chrX_299759_323796	315630	CACACAGA others(298): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAA ACACATACACACACACACACACACACAGTAAATACATCCCGACAGGGACA GACACACACACAGACACATACACAGAGACACACACAAACACAGTAAACAC ATCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACAC ACAGTAAACACATCCCGGCAGGGACACAAACACATACACATGCAGACACA CACACACACACACAGTAAATACATCCCGACAGGGACAGACACACACACAG ACACAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02273.hp2 NA18999.hp2 others(1): Show HG01943.hp1 HG02273.hp2 NA18999.hp2 NA19081.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0009c0012t0002 a0001c0001t0001 a0001c0001t0002 a0009c0012t0002	a0001c0001t0001g0098 a0001c0001t0002g0004 a0009c0012t0002g0041 a0001c0001t0001g0098 a0001c0001t0002g0004 a0009c0012t0002g0041	4	155	0.0258	-305	c.488 others(15): Show c.488-636_488-332del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
HTR1E_chr6_86932528_87021679	87010148	CCCTCACC others(298): Show CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTC TCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGA GACGCT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19055.hp2 NA18944.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0271 a0001c0001t0001g0273	2	300	0.0067	-305	c.-18 others(19): Show c.-185-4990_-185-4686del	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIAA1522_chr1_32736830_32779970	32750763	TCCAAAGT others(298): Show TCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCCGGCCCCTTTTA TTTATTTATTTATTTTTTTGAGACAGTCTCGCTGTGTCACCCAGGCTGGA GTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGACTCCCAGGTTCAA GCGAATCTCCTGCCTCAGCCTCCCAAGTAGCCGGGACTACAGGTGCCCGC CACCATGCCTGGCTAATTTTGTATTTTTAGTAGACACGGGGTTTCACCGT GTTGGTCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCTGCCCGCCTC TACCTC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02083.hp2 HG02074.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0167 a0001c0001t0001g0168	2	348	0.0058	-305	c.235 others(17): Show c.235+8606_235+8910del	KIAA1522	ENSG00000162522.11	transcript	ENST00000401073.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245682399	GCTGACTG others(298): Show GCTGACTGTATATGATCACAACCTAACTGAGCAGAACTCACCCTCCACTA CTCATGTAAGACCTGACTGTATATGATCACAACCTAACTGAGCAGAACTC ACCCTCCACTACTCATGTAAGACCTGACTGTATATGATCACAACCTAACT GAGCAGAACTCACCCTCCACTACTCATGTAAGACCTGACTGTATATGATC ACAACCTAACTGAGCAGAACTCACCCTCCACTACTCATGTAAGACCTGAC TGTATATGATCACAACCTAACTGAGCAGAACTCACCCTCCACTACTCATG TAAGAC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03195.hp1 HG03540.hp1 others(2): Show HG01261.hp1 HG03195.hp1 HG03540.hp1 HG03704.hp2 NA20300.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0042 a0004c0011 a0004c0019 others(1): Show a0001c0042 a0004c0011 a0004c0019 a0010c0021	a0001c0042t0030 a0004c0011t0020 a0004c0019t0058 others(1): Show a0001c0042t0030 a0004c0011t0020 a0004c0019t0058 a0010c0021t0017	a0001c0042t0030g0081 a0004c0011t0020g0152 a0004c0011t0020g0154 others(2): Show a0001c0042t0030g0081 a0004c0011t0020g0152 a0004c0011t0020g0154 a0004c0019t0058g0111 a0010c0021t0017g0113	5	160	0.0313	-305	c.225 others(19): Show c.2259-1785_2259-1481del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF3B_chr20_32272651_32340011	32311424	TAAAGAAC others(298): Show TAAAGAACAGCAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAAC CCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(236): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016 a0001c0002t0017 a0001c0002t0023 a0001c0002t0038 a0001c0002t0040 a0001c0003t0010 a0001c0003t0022 a0001c0004t0046 a0002c0006t0002 a0003c0005t0012	a0001c0001t0001g0059 a0001c0001t0001g0107 a0001c0001t0001g0108 others(236): Show a0001c0001t0001g0059 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0149 a0001c0001t0005g0152 a0001c0001t0005g0164 a0001c0001t0005g0171 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0188 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0005g0195 a0001c0001t0006g0097 a0001c0001t0006g0206 a0001c0001t0006g0210 a0001c0001t0006g0220 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0232 a0001c0001t0006g0235 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0008g0066 a0001c0001t0008g0069 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0090 a0001c0001t0008g0099 a0001c0001t0009g0001 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0009 a0001c0001t0012g0127 a0001c0001t0012g0153 a0001c0001t0012g0177 a0001c0001t0013g0113 a0001c0001t0013g0115 a0001c0001t0013g0126 a0001c0001t0013g0157 a0001c0001t0014g0067 a0001c0001t0014g0091 a0001c0001t0014g0092 a0001c0001t0015g0101 a0001c0001t0015g0102 a0001c0001t0015g0103 a0001c0001t0018g0093 a0001c0001t0018g0096 a0001c0001t0019g0124 a0001c0001t0019g0144 a0001c0001t0020g0209 a0001c0001t0020g0241 a0001c0001t0021g0010 a0001c0001t0021g0012 a0001c0001t0024g0011 a0001c0001t0024g0013 a0001c0001t0025g0008 a0001c0001t0025g0014 a0001c0001t0026g0104 a0001c0001t0026g0112 a0001c0001t0027g0151 a0001c0001t0027g0161 a0001c0001t0028g0158 a0001c0001t0028g0159 a0001c0001t0029g0094 a0001c0001t0030g0168 a0001c0001t0031g0100 a0001c0001t0032g0095 a0001c0001t0033g0217 a0001c0001t0035g0129 a0001c0001t0036g0117 a0001c0001t0037g0234 a0001c0001t0039g0002 a0001c0001t0041g0003 a0001c0001t0042g0205 a0001c0001t0043g0236 a0001c0001t0044g0211 a0001c0001t0045g0172 a0001c0001t0047g0160 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0037 a0001c0002t0003g0050 a0001c0002t0003g0057 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0068 a0001c0002t0003g0072 a0001c0002t0003g0079 a0001c0002t0004g0015 a0001c0002t0004g0018 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0053 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0065 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0004g0074 a0001c0002t0007g0017 a0001c0002t0007g0024 a0001c0002t0007g0033 a0001c0002t0007g0054 a0001c0002t0007g0063 a0001c0002t0007g0064 a0001c0002t0007g0073 a0001c0002t0007g0075 a0001c0002t0007g0076 a0001c0002t0007g0077 a0001c0002t0007g0242 a0001c0002t0011g0045 a0001c0002t0011g0047 a0001c0002t0011g0048 a0001c0002t0011g0051 a0001c0002t0011g0060 a0001c0002t0016g0016 a0001c0002t0016g0025 a0001c0002t0016g0043 a0001c0002t0017g0019 a0001c0002t0017g0044 a0001c0002t0017g0052 a0001c0002t0023g0049 a0001c0002t0023g0078 a0001c0002t0038g0046 a0001c0002t0040g0023 a0001c0003t0010g0080 a0001c0003t0010g0081 a0001c0003t0010g0082 a0001c0003t0010g0083 a0001c0003t0010g0084 a0001c0003t0022g0085 a0001c0003t0022g0105 a0001c0004t0046g0031 a0002c0006t0002g0208 a0003c0005t0012g0142	239	242	0.9876	-305	c.140 others(17): Show c.1404+256_1404+560del	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LRCH3_chr3_197786254_197893436	197864319	TAAAAACA others(298): Show TAAAAACAGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCAGGCGAATCACCTGAGGTTGGGAGTTCGAGAACGGCCTGA CTAACATGGAGAAACCCCGTATCTACTAAAAATACAAAAAAATTAGCTGG GTATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATTGCTTGAACCCGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGTGC CATTGCACTCCAGCCTGGGCAATAAGAGCTAAACTCCATCTCAAAAAAAA AAAAAC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02055.hp1 HG02109.hp1 others(5): Show HG01361.hp2 HG02055.hp1 HG02109.hp1 HG02451.hp2 HG02622.hp2 HG02818.hp2 HG03130.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0010 a0001c0001 a0001c0005 a0004c0010	a0001c0001t0011 a0001c0001t0027 a0001c0005t0035 others(1): Show a0001c0001t0011 a0001c0001t0027 a0001c0005t0035 a0004c0010t0060	a0001c0001t0011g0070 a0001c0001t0011g0072 a0001c0001t0011g0074 others(5): Show a0001c0001t0011g0070 a0001c0001t0011g0072 a0001c0001t0011g0074 a0001c0001t0011g0078 a0001c0001t0011g0136 a0001c0001t0027g0118 a0001c0005t0035g0021 a0004c0010t0060g0034	8	292	0.0274	-305	c.171 others(18): Show c.1717-1098_1717-794del	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
MIDN_chr19_1243583_1264143	1247085	TCCCAAAG others(298): Show TCCCAAAGTGCCAGGATTACAGGCATGAGCCACCGCGCCCGGCCTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAATCTCGTTTTGTCGCTCAGGCTGG AGTGCCCTGGCACGATCTGGGTTTATTGTAACCTCCGCCTCCCGCGTTCA AGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGACACATG CCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACC ATGTTGGCCAGGCTGGTCTCAATCTCTTGACCTTGTGATCCGCCCGCCTC GGCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0034 a0001c0003t0008g0034	1	418	0.0024	-305	c.-19 others(11): Show c.-1982_-1678del	MIDN	ENSG00000167470.14	transcript	ENST00000682408.1	protein_coding		1497		chr19	TogoVar
MINK1_chr17_4828340_4903061	4830384	CTTTTTTT others(298): Show CTTTTTTTTTTTTTTTTTTTTTGAGACGTTGTCTTGCTCTGTCACCCAGG CTGGAGTGCAGTGGCACGTTCTCGGCTCACTGCAACCTCTGCCTCCCGGG TTCAAGCGATTCTTCTGCATCGGCATCCCGAATAGCTGGGATTACAGGCG CCTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACATGGTTT CACCATGTTGTCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACT CGTCTCGGCCTCCCCAAAAGTGCTGGGATTACAGGCGTGAGCCACTGCAC CCGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00673.hp1 others(15): Show HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01069.hp2 HG01074.hp1 HG01517.hp1 HG02148.hp2 HG03453.hp2 NA18944.hp2 NA18954.hp1 NA18973.hp2 NA18980.hp2 NA18988.hp1 NA19057.hp2 NA19085.hp1 NA19087.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0006 a0001c0004t0016 a0001c0004t0019 others(2): Show a0001c0004t0006 a0001c0004t0016 a0001c0004t0019 a0001c0004t0042 a0001c0011t0006	a0001c0004t0006g0329 a0001c0004t0006g0331 a0001c0004t0006g0335 others(15): Show a0001c0004t0006g0329 a0001c0004t0006g0331 a0001c0004t0006g0335 a0001c0004t0006g0337 a0001c0004t0006g0338 a0001c0004t0006g0339 a0001c0004t0006g0340 a0001c0004t0006g0342 a0001c0004t0006g0344 a0001c0004t0006g0345 a0001c0004t0006g0348 a0001c0004t0006g0351 a0001c0004t0016g0352 a0001c0004t0019g0332 a0001c0004t0019g0336 a0001c0004t0019g0343 a0001c0004t0042g0346 a0001c0011t0006g0334	18	360	0.0500	-305	c.-31 others(11): Show c.-3199_-2895del	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding		2955		chr17	TogoVar
MLPH_chr2_237482251_237560322	237544842	GACAGTGG others(298): Show GACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAAT GGGGACAGTAGTGAGTGGGGGACCGTGGTGAGTGGGGGCACAGTGGTGAG TGGGGACAGTGGGTGGAGGGGGCACTATTGGTAGGGGGGACAATTATTGG GGGGGGGCACTAATTGTGAGGGGGGACCAGTGTTGAGTGGGGGAATAGTT ATGAGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02723.hp1 HG01884.hp1 HG02280.hp1 HG02723.hp1	a0003 a0015 a0003 a0015	a0003c0003 a0015c0024 a0003c0003 a0015c0024	a0003c0003t0005 a0015c0024t0005 a0003c0003t0005 a0015c0024t0005	a0003c0003t0005g0136 a0003c0003t0005g0242 a0015c0024t0005g0138 a0003c0003t0005g0136 a0003c0003t0005g0242 a0015c0024t0005g0138	3	286	0.0105	-305	c.154 others(19): Show c.1540-1763_1540-1459del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
NT5C2_chr10_103083038_103198272	103129623	GGGGGGGG others(298): Show GGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCTGTCCGGGA GGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0079 a0001c0002t0003g0079	1	340	0.0029	-305	c.175 others(17): Show c.175+9478_175+9782del	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NTM_chr11_131365615_132341822	131632663	GCTCGGGC others(298): Show GCTCGGGCAGCTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCCACTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGAC TACAGGCACGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCATCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACC GCGCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02615.hp2 others(1): Show HG02055.hp2 HG02145.hp2 HG02615.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0004t0003 a0001c0001t0001 a0001c0001t0008 a0001c0004t0003	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0008g0045 others(1): Show a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0008g0045 a0001c0004t0003g0054	4	86	0.0465	-305	c.82+ others(19): Show c.82+261789_82+262093del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31510709	TACATATG others(298): Show TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TACATATGTATATCTATATGTAACATACATATGTATATCTATATGTAACA TATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATA TGTATATCTATATGTAACATATATGTATATCTATATGTAACATATATGTA TATCTATATGTAACATATGTATATCTATATGTAACATATGTATATCTATA TGTAAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0088 a0001c0006t0088	a0001c0006t0088g0221 a0001c0006t0088g0221	1	244	0.0041	-305	c.894 others(17): Show c.894-7196_894-6892del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar

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