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
PKP3_chr11_389209_409908	400960	CACCCGCC others(162): Show CACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCC GGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	216	0.0046	-169	c.173 others(17): Show c.1737+256_1737+424del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHG4B_chr5_87168_194966	164589	GCTGTGAC others(162): Show GCTGTGACGGAGCGGAGCTCACAGTAATGCTGTGACGGAGCGGAGCTCAC ACTAATGCTCTGACGGGCGGAGCTCACACTAATACTCTGACAGGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATACTCTGACG GGGCGGGGCTCACAGTAATC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0014 a0014	a0014c0066 a0014c0066	a0014c0066t0051 a0014c0066t0051	a0014c0066t0051g0170 a0014c0066t0051g0170	1	210	0.0048	-169	c.347 others(19): Show c.3476+1044_3476+1212del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RERE_chr1_8347404_8822640	8818421	ACGTGTGA others(162): Show ACGTGTGAAAAAAAATCTAAAAAGAGGAAAAGACCAAACATCACCTCTTT TTCTTTGAAGAATGAAGTATTGTGTCCCACTTCCCGAAAGCCTGATAATC ACAGGGTCTATCATGCTGTAAAGGGAGTAGGGGCAGGCCAAATGATCATA TTCTAGTTCATATAATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	204	0.0049	-169	c.-15 others(11): Show c.-1575_-1407del	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding		782		chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281284	CCTCCCTC others(162): Show CCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTC ACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATC TCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCC CTTGGCCACCCTCCTGTCAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0041 a0007c0041	a0007c0041t0081 a0007c0041t0081	a0007c0041t0081g0236 a0007c0041t0081g0236	1	280	0.0036	-169	c.484 others(17): Show c.484+9593_484+9761del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3977108	GGGTCCTC others(162): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCGAGGCTGCCACACAGAC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0024 a0001c0025t0024	a0001c0025t0024g0088 a0001c0025t0024g0088	1	116	0.0086	-169	c.199 others(19): Show c.1994+2635_1994+2803del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77487578	GTGCAGGA others(162): Show GTGCAGGACGCCCCTGCCTTCCTGGAGCACAGGGGTTGGGGGTCAAGACC ATCACACACAGTCAGTGGCCAGGGGCGGGCTGGGGGTGCAGGACTCCTCT GCCTTCCTGGAGCACAGAGTGGGGGGTCAAGACCATCACACACAGTCAGT GGCCGGGAGTGGGCTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00738.hp1 others(90): Show HG00423.hp1 HG00639.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG02040.hp1 HG02056.hp2 HG02145.hp2 HG02257.hp1 HG02257.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 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18973.hp2 NA18979.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002 a0002c0004 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0005t0046 a0001c0007t0051 a0002c0002t0004 a0002c0002t0010 a0002c0002t0015 a0002c0002t0016 a0002c0002t0025 a0002c0002t0031 a0002c0002t0041 a0002c0002t0042 a0002c0002t0044 a0002c0002t0045 a0002c0002t0050 a0002c0004t0022 a0003c0003t0002 a0003c0003t0007 a0003c0003t0037 a0003c0003t0055 a0004c0006t0001	a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0077 others(90): Show a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0003g0062 a0001c0001t0003g0091 a0001c0001t0005g0019 a0001c0001t0005g0023 a0001c0001t0005g0027 a0001c0001t0006g0066 a0001c0001t0007g0026 a0001c0001t0007g0039 a0001c0001t0007g0146 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0009g0101 a0001c0001t0009g0143 a0001c0001t0009g0144 a0001c0001t0010g0135 a0001c0001t0011g0053 a0001c0001t0011g0111 a0001c0001t0011g0139 a0001c0001t0012g0029 a0001c0001t0012g0113 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0034 a0001c0001t0016g0067 a0001c0001t0017g0078 a0001c0001t0017g0140 a0001c0001t0018g0109 a0001c0001t0018g0116 a0001c0001t0019g0060 a0001c0001t0021g0090 a0001c0001t0023g0012 a0001c0001t0023g0148 a0001c0001t0027g0100 a0001c0001t0028g0134 a0001c0001t0029g0117 a0001c0001t0032g0080 a0001c0001t0035g0132 a0001c0001t0036g0083 a0001c0001t0038g0118 a0001c0001t0039g0102 a0001c0001t0047g0009 a0001c0001t0048g0149 a0001c0001t0049g0035 a0001c0001t0052g0013 a0001c0001t0054g0004 a0001c0001t0056g0018 a0001c0001t0057g0028 a0001c0001t0058g0017 a0001c0005t0046g0038 a0001c0007t0051g0008 a0002c0002t0004g0014 a0002c0002t0004g0024 a0002c0002t0004g0036 a0002c0002t0004g0145 a0002c0002t0010g0030 a0002c0002t0010g0136 a0002c0002t0015g0061 a0002c0002t0015g0129 a0002c0002t0016g0120 a0002c0002t0025g0071 a0002c0002t0031g0141 a0002c0002t0041g0041 a0002c0002t0042g0032 a0002c0002t0044g0037 a0002c0002t0045g0042 a0002c0002t0050g0147 a0002c0004t0022g0007 a0002c0004t0022g0040 a0003c0003t0002g0089 a0003c0003t0002g0123 a0003c0003t0007g0003 a0003c0003t0037g0137 a0003c0003t0055g0095 a0004c0006t0001g0097	93	150	0.6200	-169	c.104 others(16): Show c.1042+85_1042+253del	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77487578	GTGCAGGA others(162): Show GTGCAGGACGCCCCTGCCTTCCTGGAGCACAGGGGTTGGGGGTCAAGACC ATCACACACAGTCAGTGGCCAGGGGCGGGCTGGGGGTGCAGGACTCCTCT GCCTTCCTGGAGCACAGAGTGGGGGGTCAAGACCATCACACACAGTCAGT GGCCGGGAGTGGGCTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG00738.hp1 others(96): Show HG00423.hp2 HG00639.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG02040.hp2 HG02056.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18973.hp1 NA18979.hp2 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0005 a0003c0003 a0003c0009 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0004t0015 a0001c0004t0037 a0001c0004t0041 a0001c0006t0029 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0022 a0002c0002t0026 a0002c0002t0027 a0002c0002t0036 a0002c0002t0055 a0002c0005t0011 a0003c0003t0002 a0003c0003t0032 a0003c0003t0043 a0003c0003t0047 a0003c0009t0001 a0004c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0027 others(96): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0057 a0001c0001t0002g0077 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0003g0138 a0001c0001t0004g0024 a0001c0001t0005g0028 a0001c0001t0005g0084 a0001c0001t0006g0019 a0001c0001t0006g0063 a0001c0001t0006g0116 a0001c0001t0006g0121 a0001c0001t0007g0005 a0001c0001t0007g0105 a0001c0001t0007g0115 a0001c0001t0007g0130 a0001c0001t0010g0078 a0001c0001t0010g0079 a0001c0001t0010g0093 a0001c0001t0013g0047 a0001c0001t0014g0088 a0001c0001t0014g0089 a0001c0001t0016g0091 a0001c0001t0018g0006 a0001c0001t0018g0101 a0001c0001t0019g0002 a0001c0001t0019g0030 a0001c0001t0020g0049 a0001c0001t0020g0056 a0001c0001t0021g0157 a0001c0001t0021g0158 a0001c0001t0023g0066 a0001c0001t0023g0068 a0001c0001t0024g0071 a0001c0001t0025g0064 a0001c0001t0030g0153 a0001c0001t0033g0125 a0001c0001t0034g0137 a0001c0001t0038g0106 a0001c0001t0040g0012 a0001c0001t0042g0082 a0001c0001t0044g0010 a0001c0001t0046g0054 a0001c0001t0048g0131 a0001c0001t0049g0145 a0001c0001t0052g0035 a0001c0001t0053g0074 a0001c0001t0054g0073 a0001c0001t0056g0075 a0001c0001t0057g0072 a0001c0001t0058g0076 a0001c0001t0060g0151 a0001c0004t0015g0114 a0001c0004t0037g0152 a0001c0004t0041g0003 a0001c0006t0029g0102 a0002c0002t0003g0008 a0002c0002t0003g0026 a0002c0002t0003g0085 a0002c0002t0003g0134 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0008g0050 a0002c0002t0009g0032 a0002c0002t0009g0036 a0002c0002t0009g0136 a0002c0002t0012g0140 a0002c0002t0013g0099 a0002c0002t0022g0065 a0002c0002t0026g0118 a0002c0002t0027g0053 a0002c0002t0036g0133 a0002c0002t0055g0067 a0002c0005t0011g0129 a0002c0005t0011g0135 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0032g0055 a0003c0003t0043g0046 a0003c0003t0047g0127 a0003c0009t0001g0017 a0004c0007t0001g0110	99	158	0.6266	-169	c.988 others(14): Show c.988+85_988+253del	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	400888	GCCCCGCT others(162): Show GCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCC CGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCT CACCCCGGACCCCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCAC ACCCGGCCCCGCTCACCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp1 NA18964.hp1 HG01243.hp2 HG02145.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0113 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0113	3	242	0.0124	-169	c.48 others(11): Show c.4839_*5007del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4827		chr11	TogoVar
SIGIRR_chr11_400716_419999	400960	CACCCGCC others(162): Show CACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCC GGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCGCCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	242	0.0041	-169	c.47 others(11): Show c.4767_*4935del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4755		chr11	TogoVar
SLC4A11_chr20_3222422_3244190	3242923	ACCACCAT others(162): Show ACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTGAAACAGTTT TGCACTGTTGCCCAGGCTGGAGTGCAGCGGCGCCATCTCGGCTCACTGCA AGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0060	1	446	0.0022	-169	c.-39 others(11): Show c.-3955_-3787del	SLC4A11	ENSG00000088836.14	transcript	ENST00000642402.1	protein_coding		3734		chr20	TogoVar
SLX9_chr21_44935029_44981973	44981528	TGGATGGG others(162): Show TGGATGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGC GGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGG GGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTT CACGGGGGACAGCGGGGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	334	0.0030	-169	c.47 others(11): Show c.4726_*4894del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4556		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981569	GGGGACAG others(162): Show GGGGACAGCGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGT GTTCAGAGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCG TGTGGTGTTCACGGGGGACAGCGGGGCCCGGACGGGGCCCTGCACACAGA GCCTGCGTGTGGTGTTCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	334	0.0030	-169	c.47 others(11): Show c.4767_*4935del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4597		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981804	CGGGGCCC others(162): Show CGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGG GGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTG TTCAGGGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGT GTGGTGTTCACGGGGGACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01109.hp2 others(3): Show HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01981.hp2 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0216 a0003c0003t0001g0217 others(1): Show a0003c0003t0001g0016 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218	6	334	0.0180	-169	c.50 others(11): Show c.5002_*5170del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4832		chr21	TogoVar
SMYD3_chr1_245744347_246512279	246072001	ATGCATCG others(162): Show ATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCA CTGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTG TGCTCACTGTGGATGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTCTT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0083 a0001c0002t0002g0083	1	150	0.0067	-169	c.532 others(21): Show c.532-142233_532-142065del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX2_chr5_122770080_122839543	122801062	TGATACTA others(162): Show TGATACTAAAGTTGCTTTTCAGTATAATCACTTCTGCTGGTAAGTAAGGT TCTACTGGTAAAAGTAATGACTACCTACCTCCTTGGTATTAAAGGGTAGA GAGAGAACTTTGAAAAATGCTAGTATTAAAATTAATTAAGGAGGTAATTT TTTAATAATCTGAATCTGAA	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	372	0.0027	-169	c.391 others(15): Show c.391-803_391-635del	SNX2	ENSG00000205302.7	transcript	ENST00000379516.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPATA6_chr1_48290373_48477204	48383297	GGGCGGGG others(162): Show GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG ACCGCCCCCCCGCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCT CCCGGACGGGGCGGCTGGCC	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	322	0.0031	-169	c.909 others(17): Show c.909+1843_909+2011del	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
STAU2_chr8_73415369_73751840	73622124	TTTTTTTT others(162): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCT GGAATGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCTCGCCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(124): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18946.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0004c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0006t0001 a0002c0002t0001 a0004c0005t0002 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(124): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0004g0018 a0001c0001t0004g0070 a0001c0001t0005g0053 a0001c0003t0001g0004 a0001c0003t0001g0015 a0001c0003t0001g0022 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0176 a0001c0003t0001g0225 a0001c0006t0001g0049 a0001c0006t0001g0050 a0002c0002t0001g0178 a0004c0005t0002g0191 a0005c0007t0001g0224	127	240	0.5292	-169	c.411 others(17): Show c.411-4842_411-4674del	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	6/14			chr8	TogoVar
STK32B_chr4_5046480_5505989	5316508	TATAATAT others(162): Show TATAATATATATTACATATATAATATATAATATATATTACATATATAATA TATAATATATATTACATATATAATATATAATATATATTACATATATAATA TATATTATATATTATATATATAATATATAATATATTATATATATAATATA TAATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0075 a0002c0004t0009g0075	1	170	0.0059	-169	c.261 others(19): Show c.261-14708_261-14540del	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TAFA5_chr22_48484553_48756932	48679111	CCCGGCTC others(162): Show CCCGGCTCCCTGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCG GCTCGGCGTCCATCCCTCTCCCGGCTCCCTGTCCATCCCTCTCCCGGCTC CCCGTCCATCCCTCTCCTGGCTCCCCAGCTCCCCGTCCATCCCTCTCCCG GCTCCCCATCCATCCCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0030 a0001c0001t0002g0046	2	258	0.0078	-169	c.263 others(19): Show c.263-28596_263-28428del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TDRD5_chr1_179586832_179696272	179692187	ACTAACTG others(162): Show ACTAACTGACAAAAAAAGACAAAAGTAATCTGGAAACATCACTGATAGTT AATCCAACTGATGAAAGAGTTTTGGGCTTTTGTGATTTTCTATCAGACAT CTTTATTGGAGAAGGCAGGTGGAGAGTTAGATATGGAGGGTCAGTGGACA GTTAAATATAATGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0221 a0004c0006t0001g0221	1	382	0.0026	-169	c.12 others(11): Show c.1245_*1413del	TDRD5	ENSG00000162782.16	transcript	ENST00000444136.6	protein_coding		916		chr1	TogoVar
TINAGL1_chr1_31571515_31592686	31578587	CTTAATTT others(162): Show CTTAATTTCAGTGAGAGCTGGTGTGTGTGTGTGTGATGTCTTCAGTTATA GTTTAATTTCAGTGAGAGCTGGTGTGTGTGTGTGTGTGTGTGTGTGTGAT GTCTTCAGTTATAGCTTAATCTCAGTGAGAGCTGGTGTGTGTGTGTGTGT GTGATGTCTTCAGTTATAGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	440	0.0023	-169	c.311 others(15): Show c.311-531_311-363del	TINAGL1	ENSG00000142910.16	transcript	ENST00000271064.12	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129856645	GGGGGAAC others(162): Show GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGG TGCCCTTGTAACAGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0045 a0007c0012t0003g0045	1	94	0.0106	-169	c.79+ others(17): Show c.79+46447_79+46615del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129857542	GGAGTCCA others(162): Show GGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGC GGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAACA GAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACG GGATGGCTGCCCTTGTAACA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03669.hp2 HG03471.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0070 a0001c0001t0020g0073 a0001c0001t0004g0070 a0001c0001t0020g0073	2	94	0.0213	-169	c.79+ others(17): Show c.79+45550_79+45718del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129858037	GAACGGGA others(162): Show GAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGC CCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTC CGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAGCGGGATG GGTGTAACAGAGTCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	94	0.0106	-169	c.79+ others(17): Show c.79+45055_79+45223del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TUBGCP2_chr10_133273635_133313872	133291447	CTCCGTGT others(162): Show CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	284	0.0035	-169	c.121 others(18): Show c.1214+883_1214+1051del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291541	CTCCGTGT others(162): Show CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	284	0.0035	-169	c.121 others(17): Show c.1214+789_1214+957del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UNC5A_chr5_176805559_176885898	176871128	CACACCAC others(162): Show CACACCACAGCTTCCCATCTGCCCACGCTCACCAACACCACAGCTTCCCA TCTGCCCACACTCGCCCCAACACCACAGCTTCCCATCTGCCCACGCTCAC CAACACCACAGCTTCACATCTGCCCACACTCACCAACACCACAGCTTCCC ATCTGCCCACACCTGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	268	0.0037	-169	c.886 others(15): Show c.886+620_886+788del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5A_chr5_176805559_176885898	176871379	CCATCTGC others(162): Show CCATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCACACTC GCCCCACACCACAGCTTCCCATCTGCCCACGCTCACCAACACCACAGCTT CCCATCTGCCCACACTCGCCCCAACACCACAGCTTCCCATCTGCCCACGC TCACCAACACCACAGCTTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(134): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0009 others(1): Show a0001c0001 a0001c0007 a0001c0009 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0007t0001 a0001c0009t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0236 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0200 a0001c0001t0002g0257 a0001c0001t0003g0050 a0001c0001t0008g0046 a0001c0001t0009g0043 a0001c0001t0014g0061 a0001c0001t0015g0041 a0001c0001t0016g0161 a0001c0001t0017g0007 a0001c0007t0001g0135 a0001c0009t0001g0176 a0003c0003t0001g0082 a0003c0003t0001g0084	137	268	0.5112	-169	c.886 others(16): Show c.886+861_886+1029del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
VIL1_chr2_218414123_218458295	218433503	TGAGGTGG others(162): Show TGAGGTGGGTGGATCACCTGAGGTCAGTAGTTCAAAATGAGGGCATGCAA TGCAGGGGGCACAGCAAGGACAAGGGCCTGGGGGAGAGGCTCCCTGGGGA ACATCAGAAGCCTGGTGGAACTGGCCAGGCATGGTGGTTCACGCCTGTAA TCCCAGCACTTTGGGAGGCA	T T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0121 a0001c0001t0014g0121	1	336	0.0030	-169	c.150 others(17): Show c.1500+579_1500+747del	VIL1	ENSG00000127831.11	transcript	ENST00000248444.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF512B_chr20_63951704_63974930	63964839	CCCGACCT others(162): Show CCCGACCTGGGACAAGCCCCCATACCTTTTCTTACCACTGTTCCCTGACC TGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACCTGGGACG AGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCC ATACCTTTTCTCACCACTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	356	0.0028	-169	c.103 others(17): Show c.1035-292_1035-124del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF512B_chr20_63951704_63974930	63965100	CCCGACCT others(162): Show CCCGACCTGGGACGAGCCCCCATACCTTTTCTCACCACTGTTCCCTGACC TGGAACGAGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACG AGCCCCCATACCTTTTCTCACCACTGTTCCCCGACCTGGGACGAGCCCCC ATACCTTTTCTCACCACTGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	356	0.0028	-169	c.103 others(17): Show c.1035-553_1035-385del	ZNF512B	ENSG00000196700.9	transcript	ENST00000369888.6	protein_coding	5/16			chr20	TogoVar
ZNF573_chr19_37733302_37784586	37751456	TATAGACA others(162): Show TATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCATATATA CTGTGTATATATACAGTATAGACAGCATATATACTGTGTATATATACAGT ATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCATATATAC TGTGTATATATACAGTATAG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	350	0.0029	-169	c.296 others(19): Show c.296-11431_296-11263del	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF888_chr19_52899415_52928428	52918998	CTCTCCCT others(162): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0013 a0005c0012t0013	a0005c0012t0013g0119 a0005c0012t0013g0143 a0005c0012t0013g0119 a0005c0012t0013g0143	2	426	0.0047	-169	c.-17 others(16): Show c.-177-230_-177-62del	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ABCG8_chr2_43833971_43887988	43865194	CACTATCT others(161): Show CACTATCTAGATAGAATTCTCACCATCTGCATGGAACTCTCACTATCTGT CTAGGTACAATTCTCATCATCTGCTTAGAGCTCTCACTATCTGGATAGAA TTCTCAGTCTCTGCATAGAACTGTCACTATCTATCTGGATAGAATTCTCA CCCTCTGGATAGAACTCTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show HG01192.hp1 HG02895.hp2 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0023 a0003c0010t0123 a0003c0010t0023 a0003c0010t0123	a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 others(1): Show a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 a0003c0010t0123g0038	4	318	0.0126	-168	c.965 others(17): Show c.965-6774_965-6607del	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288650	TGTCTCTG others(161): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0006 a0001c0023t0006	a0001c0023t0006g0218 a0001c0023t0006g0218	1	295	0.0034	-168	c.47 others(11): Show c.4746_*4913del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3740		chr1	TogoVar
ADAMTS17_chr15_99966437_100346975	100102309	CGAAGGGG others(161): Show CGAAGGGGATCTACATTTGAGGGCCGACCGAAGGGGATCTACATTTGAGG GCCAACCGAAGGGGATCTACATTTGAGGGCCGACCGAAGGGGATCTACAT TTGAGGGCCGACCGAAGGGGATCTACATTTGAGGGCCGACCAAAGGGGAT CTACATTTGAGGGCCAACT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00735.hp1 HG01243.hp2 others(21): Show HG00408.hp2 HG00735.hp1 HG01243.hp2 HG01258.hp1 HG01361.hp1 HG02055.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03831.hp2 HG06807.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0005 a0001c0007 others(10): Show a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0001c0018 a0001c0025 a0002c0001 a0002c0004 a0002c0011 a0003c0013 a0004c0003 a0004c0008 a0006c0049	a0001c0002t0066 a0001c0005t0005 a0001c0005t0009 others(19): Show a0001c0002t0066 a0001c0005t0005 a0001c0005t0009 a0001c0007t0006 a0001c0007t0010 a0001c0010t0009 a0001c0018t0010 a0001c0018t0016 a0001c0018t0070 a0001c0025t0008 a0002c0001t0002 a0002c0001t0013 a0002c0001t0016 a0002c0001t0033 a0002c0001t0036 a0002c0004t0006 a0002c0004t0032 a0002c0011t0039 a0003c0013t0001 a0004c0003t0001 a0004c0008t0003 a0006c0049t0015	a0001c0002t0066g0213 a0001c0005t0005g0193 a0001c0005t0009g0015 others(21): Show a0001c0002t0066g0213 a0001c0005t0005g0193 a0001c0005t0009g0015 a0001c0007t0006g0062 a0001c0007t0006g0202 a0001c0007t0010g0011 a0001c0010t0009g0022 a0001c0018t0010g0006 a0001c0018t0010g0007 a0001c0018t0016g0223 a0001c0018t0070g0119 a0001c0025t0008g0208 a0002c0001t0002g0144 a0002c0001t0013g0019 a0002c0001t0016g0205 a0002c0001t0033g0010 a0002c0001t0036g0003 a0002c0004t0006g0203 a0002c0004t0032g0039 a0002c0011t0039g0013 a0003c0013t0001g0123 a0004c0003t0001g0190 a0004c0008t0003g0035 a0006c0049t0015g0210	24	228	0.1053	-168	c.201 others(19): Show c.2017-6001_2017-5834del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	14/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179263151	CATTATTC others(161): Show CATTATTCCCCCATGATTTGGGGAGCAGCATTATTCCCCCATGATTTGGG GAGCAGCATTATTCCCCCATGATTTGGGGAGCAGCATTATTCCCCCATGA TTTGGGGAGCAGCATTATTCCCCCATGATTTGGGGAGCAGCATTATTCCC CCATGATTTGGGGAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0002 a0014c0038t0002	a0014c0038t0002g0219 a0014c0038t0002g0219	1	276	0.0036	-168	c.688 others(17): Show c.688+9592_688+9759del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1237517	TCTGCCTC others(161): Show TCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTC CCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCC TCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0071 a0001c0003t0032g0071	1	106	0.0094	-168	c.136 others(19): Show c.1362-3840_1362-3673del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1701563	TCAATCCC others(161): Show TCAATCCCACTCCACCAGGAGACCAGGCGCTAGTCAATACACGCAATCCC ACTCTACCAGGAGACCGGGCACTCGCCAACACACACAATCCCACTCCACC GGGAGACCAGGCGCTCGTCAATACACTCAATCCCACTCCACCGGGAGACC AGGCACTCGCCAATACACG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01433.hp1 HG01884.hp1 others(23): Show HG00408.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02897.hp1 HG02970.hp1 HG03209.hp1 HG03540.hp1 HG03540.hp2 HG04184.hp2 NA18967.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA19043.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0010	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0014 a0003c0006 a0008c0013 a0010c0009	a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 others(21): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 a0001c0001t0025 a0001c0001t0049 a0001c0001t0055 a0001c0003t0001 a0001c0007t0033 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0021 a0002c0002t0038 a0002c0002t0044 a0002c0002t0046 a0002c0002t0062 a0002c0004t0005 a0002c0004t0028 a0002c0014t0008 a0003c0006t0003 a0008c0013t0020 a0010c0009t0024	a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0010g0013 others(23): Show a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0012g0024 a0001c0001t0023g0023 a0001c0001t0025g0036 a0001c0001t0049g0040 a0001c0001t0055g0089 a0001c0003t0001g0070 a0001c0007t0033g0041 a0002c0002t0002g0075 a0002c0002t0004g0082 a0002c0002t0005g0033 a0002c0002t0007g0001 a0002c0002t0021g0035 a0002c0002t0038g0048 a0002c0002t0044g0049 a0002c0002t0046g0056 a0002c0002t0062g0093 a0002c0004t0005g0029 a0002c0004t0028g0020 a0002c0014t0008g0060 a0003c0006t0003g0090 a0008c0013t0020g0037 a0010c0009t0024g0016	26	106	0.2453	-168	c.100 others(19): Show c.100+35320_100+35487del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111331	CACCTGCC others(161): Show CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCC CTCCTAATCCCACCAGACA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0331 a0001c0001t0003g0331	1	368	0.0027	-168	c.401 others(17): Show c.401+8505_401+8672del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111519	CTCCCTCC others(161): Show CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAA CCTGCCCCCCCGGGAACCA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02258.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG02258.hp1 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0175 a0001c0001t0005g0187 a0001c0001t0005g0188 others(1): Show a0001c0001t0005g0175 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0011g0013	5	368	0.0136	-168	c.401 others(17): Show c.401+8699_401+8866del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111592	ACCACGGA others(161): Show ACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGA CACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCC TCCTAATCCCACCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATC CCACCAGACAACCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp1 NA18939.hp1 others(3): Show HG02818.hp1 HG03453.hp1 NA18939.hp1 NA18947.hp2 NA19007.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0006 a0001c0001t0013 a0001c0002t0006	a0001c0001t0013g0135 a0001c0001t0013g0177 a0001c0001t0013g0178 others(3): Show a0001c0001t0013g0135 a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0186 a0001c0002t0006g0118 a0001c0002t0006g0182	6	368	0.0163	-168	c.401 others(17): Show c.401+8755_401+8922del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111597	GGACACCT others(161): Show GGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCCCTCCTA ATCCCACCAGACCACCTGCCCGCCACGGGCACCTCCCTCCTAATCCCACC AGACAACCTGCCCGCCACA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	368	0.0027	-168	c.401 others(17): Show c.401+8776_401+8943del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111618	ACCAGACA others(161): Show ACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACA ACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCCC GCCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGA CACCTCCCTCCTAATCCCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02809.hp1 HG03130.hp1 others(1): Show HG00639.hp1 HG02809.hp1 HG03130.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 others(1): Show a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0006	a0001c0001t0016g0122 a0001c0001t0018g0043 a0001c0002t0001g0071 others(1): Show a0001c0001t0016g0122 a0001c0001t0018g0043 a0001c0002t0001g0071 a0001c0002t0006g0093	4	368	0.0109	-168	c.401 others(17): Show c.401+8783_401+8950del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111828	ACCAGACC others(161): Show ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCC GCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATGCCT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	368	0.0027	-168	c.401 others(17): Show c.401+9007_401+9174del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111867	CCCTCCAG others(161): Show CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTCCAG ACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATG	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19012.hp1 NA18969.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0014 a0001c0001t0002 a0001c0002t0014	a0001c0001t0002g0138 a0001c0002t0014g0156 a0001c0001t0002g0138 a0001c0002t0014g0156	2	368	0.0054	-168	c.401 others(17): Show c.401+9043_401+9210del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111890	CAGACACC others(161): Show CAGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCGTGAGCACC TCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCT AATGCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATGCCTC CAGACCACCTGCCTGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0235	1	368	0.0027	-168	c.401 others(17): Show c.401+9049_401+9216del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113434882	GGGACCCA others(161): Show GGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGACCCG GCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAG GTGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAG TGAACATAGGTGTACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp1 HG00639.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0084 a0002c0002t0021 a0002c0002t0084	a0002c0002t0021g0158 a0002c0002t0084g0188 a0002c0002t0021g0158 a0002c0002t0084g0188	2	262	0.0076	-168	c.380 others(17): Show c.380-1183_380-1016del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
AFAP1_chr4_7753714_7944861	7835124	GGCCTTAA others(161): Show GGCCTTAAGGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTAA GGTTACCTGGGTGGCTCTTGAATGGACTGCGGGCTGCCTTAAGGTTACCT GGGTGGCTCTTGAATGGACTGCGGGCGGCCTTAAGGTTACCTGGGTGGCT CTTGAATGGACTGTGGGCT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0125 a0001c0002t0003g0125	1	318	0.0031	-168	c.726 others(17): Show c.726+3232_726+3399del	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
ANK3_chr10_60021298_60394875	60236243	TCTAACAG others(161): Show TCTAACAGATGAGGACATCTCAAAAAATCACGATACCATTATCATAATGA AGAAAGTAAAAATAATTCCTTTATAGCACCCAAGACCCCCTCCATGTTCA AATTCTCCCATTATCTCCAACTATCTCCATTAGTTTGCTCAAGTTGGAGG GTCGACATATTGCATTAGG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02622.hp1 HG01106.hp1 HG02622.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0034 a0003c0006t0016 a0001c0001t0034 a0003c0006t0016	a0001c0001t0034g0058 a0003c0006t0016g0036 a0001c0001t0034g0058 a0003c0006t0016g0036	2	192	0.0104	-168	c.799 others(17): Show c.799-1625_799-1458del	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	7/43			chr10	TogoVar

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