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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Select column to sort.

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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
A2ML1_chr12_8817621_8881787	8832979	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp1 HG02071.hp2 others(7): Show HG00621.hp1 HG02040.hp1 HG02071.hp2 HG02922.hp2 NA18949.hp2 NA18992.hp1 NA19004.hp1 NA19010.hp1 NA19054.hp2 NA20905.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0021c0031	a0001c0001t0001 a0001c0002t0002 a0002c0004t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0004t0003 a0021c0031t0003	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0191 others(7): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0191 a0001c0001t0001g0276 a0001c0002t0002g0162 a0001c0002t0002g0273 a0001c0002t0002g0349 a0002c0004t0003g0067 a0002c0004t0003g0192 a0021c0031t0003g0361	10	368	0.0272	8	c.463 others(25): Show c.463-1678_463-1671dupTTTTTTTT	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	4/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8840954	G G	GGAAGGAA others(1): Show GGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02451.hp2 HG03209.hp1 others(4): Show HG02273.hp1 HG02451.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp1	a0001 a0004 a0014 others(1): Show a0001 a0004 a0014 a0015	a0001c0001 a0004c0014 a0004c0064 others(2): Show a0001c0001 a0004c0014 a0004c0064 a0014c0063 a0015c0019	a0001c0001t0001 a0004c0014t0004 a0004c0064t0002 others(2): Show a0001c0001t0001 a0004c0014t0004 a0004c0064t0002 a0014c0063t0001 a0015c0019t0004	a0001c0001t0001g0206 a0004c0014t0004g0237 a0004c0014t0004g0238 others(4): Show a0001c0001t0001g0206 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0064t0002g0351 a0014c0063t0001g0240 a0015c0019t0004g0014 a0015c0019t0004g0198	7	368	0.0190	8	c.108 others(25): Show c.1081-408_1081-407insAGAAGGAA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(1): Show AGGAAGGAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02615.hp1 others(5): Show HG02055.hp2 HG02109.hp2 HG02615.hp1 HG03195.hp1 NA18998.hp1 NA18999.hp1 NA19057.hp2 NA20129.hp1	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0025	a0001c0001 a0002c0003 a0012c0022 others(1): Show a0001c0001 a0002c0003 a0012c0022 a0025c0057	a0001c0001t0001 a0002c0003t0001 a0012c0022t0007 others(1): Show a0001c0001t0001 a0002c0003t0001 a0012c0022t0007 a0025c0057t0007	a0001c0001t0001g0271 a0001c0001t0001g0272 a0002c0003t0001g0052 others(5): Show a0001c0001t0001g0271 a0001c0001t0001g0272 a0002c0003t0001g0052 a0002c0003t0001g0059 a0002c0003t0001g0163 a0012c0022t0007g0018 a0012c0022t0007g0036 a0025c0057t0007g0035	8	368	0.0217	8	c.108 others(25): Show c.1081-357_1081-356insAGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2M_chr12_9062708_9120919	9094340	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18963.hp1 NA18963.hp2 HG02735.hp1 NA18963.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0001g0261 a0001c0001t0001g0179 a0001c0001t0001g0195 a0001c0001t0001g0261	3	332	0.0090	8	c.212 others(25): Show c.2125+625_2125+632dupATATATAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding	17/35			chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CATGTGTG others(1): Show CATGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG04199.hp2 others(13): Show HG03491.hp2 HG03492.hp1 HG04199.hp2 NA18953.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18982.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19066.hp1 NA20300.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0014 a0001c0001 a0012c0014	a0001c0001t0002 a0012c0014t0002 a0001c0001t0002 a0012c0014t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0047 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0047 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0084 a0012c0014t0002g0079	16	332	0.0482	8	c.-50 others(19): Show c.-5004_-5003insACACACAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CGTGTGTG others(1): Show CGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01069.hp1 others(34): Show HG00408.hp2 HG00544.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01433.hp2 HG01884.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02040.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG03041.hp1 HG03195.hp1 HG03491.hp1 HG03669.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp1 NA18957.hp1 NA18962.hp1 NA18972.hp2 NA18981.hp1 NA18995.hp2 NA19012.hp1 NA19056.hp1 NA19076.hp1 NA19082.hp2 NA19083.hp1 NA19086.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0001c0011 a0001c0017 others(5): Show a0001c0001 a0001c0011 a0001c0017 a0002c0002 a0003c0004 a0006c0008 a0007c0027 a0008c0025	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0017t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001 a0006c0008t0001 a0007c0027t0001 a0008c0025t0001	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0034 others(27): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0002g0144 a0001c0011t0001g0264 a0001c0011t0001g0266 a0001c0017t0001g0236 a0002c0002t0001g0210 a0002c0002t0002g0006 a0002c0002t0002g0129 a0003c0004t0001g0001 a0003c0004t0001g0163 a0006c0008t0001g0217 a0007c0027t0001g0277 a0008c0025t0001g0276	37	332	0.1115	8	c.-50 others(19): Show c.-5004_-5003insACACACAC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33316568	T T	TTAGGTGC others(1): Show TTAGGTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(166): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19081.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0012	a0001c0001 a0001c0015 a0002c0002 others(6): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0004c0007 a0005c0005 a0006c0004 a0011c0012 a0012c0010	a0001c0001t0000 a0001c0015t0000 a0002c0002t0000 others(6): Show a0001c0001t0000 a0001c0015t0000 a0002c0002t0000 a0003c0003t0000 a0004c0007t0000 a0005c0005t0000 a0006c0004t0000 a0011c0012t0000 a0012c0010t0000	a0001c0001t0000g0004 a0001c0001t0000g0009 a0001c0001t0000g0012 others(124): Show a0001c0001t0000g0004 a0001c0001t0000g0009 a0001c0001t0000g0012 a0001c0001t0000g0013 a0001c0001t0000g0014 a0001c0001t0000g0015 a0001c0001t0000g0022 a0001c0001t0000g0023 a0001c0001t0000g0024 a0001c0001t0000g0026 a0001c0001t0000g0027 a0001c0001t0000g0029 a0001c0001t0000g0030 a0001c0001t0000g0031 a0001c0001t0000g0032 a0001c0001t0000g0033 a0001c0001t0000g0045 a0001c0001t0000g0048 a0001c0001t0000g0051 a0001c0001t0000g0052 a0001c0001t0000g0053 a0001c0001t0000g0054 a0001c0001t0000g0055 a0001c0001t0000g0056 a0001c0001t0000g0057 a0001c0001t0000g0058 a0001c0001t0000g0059 a0001c0001t0000g0060 a0001c0001t0000g0061 a0001c0001t0000g0062 a0001c0001t0000g0063 a0001c0001t0000g0064 a0001c0001t0000g0065 a0001c0001t0000g0066 a0001c0001t0000g0067 a0001c0001t0000g0068 a0001c0001t0000g0069 a0001c0001t0000g0070 a0001c0001t0000g0071 a0001c0001t0000g0072 a0001c0001t0000g0073 a0001c0001t0000g0074 a0001c0001t0000g0075 a0001c0001t0000g0076 a0001c0001t0000g0077 a0001c0001t0000g0078 a0001c0001t0000g0079 a0001c0001t0000g0080 a0001c0001t0000g0081 a0001c0001t0000g0082 a0001c0001t0000g0083 a0001c0001t0000g0084 a0001c0001t0000g0085 a0001c0001t0000g0086 a0001c0001t0000g0087 a0001c0001t0000g0088 a0001c0001t0000g0089 a0001c0001t0000g0090 a0001c0001t0000g0091 a0001c0001t0000g0094 a0001c0001t0000g0095 a0001c0001t0000g0096 a0001c0001t0000g0097 a0001c0001t0000g0098 a0001c0001t0000g0100 a0001c0001t0000g0101 a0001c0001t0000g0102 a0001c0001t0000g0103 a0001c0001t0000g0104 a0001c0001t0000g0105 a0001c0001t0000g0106 a0001c0001t0000g0107 a0001c0001t0000g0108 a0001c0001t0000g0110 a0001c0001t0000g0112 a0001c0001t0000g0113 a0001c0001t0000g0114 a0001c0001t0000g0115 a0001c0001t0000g0116 a0001c0001t0000g0117 a0001c0001t0000g0118 a0001c0001t0000g0119 a0001c0001t0000g0120 a0001c0001t0000g0121 a0001c0001t0000g0122 a0001c0001t0000g0123 a0001c0001t0000g0124 a0001c0001t0000g0125 a0001c0001t0000g0126 a0001c0001t0000g0127 a0001c0001t0000g0129 a0001c0001t0000g0130 a0001c0001t0000g0131 a0001c0001t0000g0132 a0001c0001t0000g0133 a0001c0001t0000g0134 a0001c0001t0000g0135 a0001c0001t0000g0136 a0001c0001t0000g0138 a0001c0001t0000g0139 a0001c0001t0000g0141 a0001c0001t0000g0142 a0001c0001t0000g0143 a0001c0001t0000g0144 a0001c0001t0000g0146 a0001c0001t0000g0150 a0001c0001t0000g0151 a0001c0001t0000g0152 a0001c0001t0000g0153 a0001c0001t0000g0154 a0001c0001t0000g0257 a0001c0001t0000g0258 a0001c0001t0000g0259 a0001c0015t0000g0145 a0002c0002t0000g0109 a0002c0002t0000g0111 a0002c0002t0000g0147 a0002c0002t0000g0148 a0003c0003t0000g0025 a0003c0003t0000g0099 a0004c0007t0000g0092 a0004c0007t0000g0093 a0005c0005t0000g0028 a0006c0004t0000g0128 a0006c0004t0000g0140 a0011c0012t0000g0137 a0012c0010t0000g0149	169	418	0.4043	8	c.24- others(23): Show c.24-3686_24-3679dupGGCACCTA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	1/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02004.hp2 HG02027.hp1 others(8): Show HG01169.hp1 HG02004.hp2 HG02027.hp1 HG02559.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03491.hp2 HG03540.hp1 HG03834.hp1 NA20129.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0006c0013 a0002c0003 a0006c0013	a0002c0003t0001 a0006c0013t0008 a0002c0003t0001 a0006c0013t0008	a0002c0003t0001g0116 a0002c0003t0001g0255 a0002c0003t0001g0308 others(8): Show a0002c0003t0001g0116 a0002c0003t0001g0255 a0002c0003t0001g0308 a0002c0003t0001g0331 a0002c0003t0001g0332 a0002c0003t0001g0344 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0362 a0002c0003t0001g0377 a0006c0013t0008g0052	11	406	0.0271	8	c.-18 others(25): Show c.-187-498_-187-491dupTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703057	C C	CTCTGTGT others(1): Show CTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03139.hp1 others(2): Show HG01884.hp2 HG02451.hp2 HG03139.hp1 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0006 a0001c0002t0011g0277 a0001c0002t0011g0279 others(1): Show a0001c0002t0011g0006 a0001c0002t0011g0277 a0001c0002t0011g0279 a0001c0002t0011g0280	5	406	0.0123	8	c.-18 others(27): Show c.-187-7427_-187-7426insCACACAGA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703057	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02970.hp2 others(2): Show HG02258.hp2 HG02922.hp1 HG02970.hp2 HG03453.hp2 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0240 a0002c0003t0001g0285 a0002c0003t0001g0286 others(2): Show a0002c0003t0001g0240 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0341	5	406	0.0123	8	c.-18 others(27): Show c.-187-7434_-187-7427dupCACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG01069.hp1 others(61): Show HG00438.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG02004.hp1 HG02083.hp1 HG02280.hp2 HG02559.hp2 HG02897.hp2 HG03516.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18967.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18994.hp1 NA19001.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp2 NA19081.hp2 NA19087.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0010 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(13): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0019 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0007t0004 a0001c0009t0013 a0001c0010t0009 a0002c0003t0001	a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0106 others(60): Show a0001c0001t0002g0087 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0192 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0237 a0001c0001t0002g0319 a0001c0001t0007g0034 a0001c0001t0007g0046 a0001c0001t0007g0047 a0001c0001t0007g0059 a0001c0001t0007g0065 a0001c0001t0016g0072 a0001c0001t0019g0206 a0001c0002t0003g0028 a0001c0002t0003g0045 a0001c0002t0003g0060 a0001c0002t0003g0069 a0001c0002t0003g0076 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0004g0094 a0001c0002t0005g0128 a0001c0002t0006g0111 a0001c0002t0006g0209 a0001c0002t0009g0117 a0001c0002t0012g0022 a0001c0002t0014g0023 a0001c0002t0014g0040 a0001c0002t0015g0051 a0001c0007t0004g0394 a0001c0009t0013g0213 a0001c0010t0009g0251 a0001c0010t0009g0258 a0001c0010t0009g0259 a0002c0003t0001g0002 a0002c0003t0001g0116 a0002c0003t0001g0119 a0002c0003t0001g0136 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0233 a0002c0003t0001g0248 a0002c0003t0001g0255 a0002c0003t0001g0284 a0002c0003t0001g0325 a0002c0003t0001g0338 a0002c0003t0001g0387	64	406	0.1576	8	c.-18 others(27): Show c.-187-7483_-187-7476dupCACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01358.hp1 others(40): Show HG00323.hp1 HG00621.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG02129.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03688.hp2 HG03831.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp1 NA18944.hp2 NA18954.hp1 NA18961.hp1 NA18974.hp1 NA19002.hp1 NA19010.hp1 NA19030.hp2 NA19064.hp2 NA19077.hp1 NA19086.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0011 a0002c0003 a0004c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0022 a0001c0001t0025 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0007t0004 a0001c0009t0013 a0001c0011t0004 a0002c0003t0001 a0002c0003t0008 a0004c0005t0010	a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 others(40): Show a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0181 a0001c0001t0002g0236 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0250 a0001c0001t0004g0289 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0022g0214 a0001c0001t0025g0392 a0001c0002t0003g0014 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0037 a0001c0002t0003g0081 a0001c0002t0003g0084 a0001c0002t0004g0094 a0001c0002t0005g0089 a0001c0007t0004g0394 a0001c0009t0013g0364 a0001c0011t0004g0294 a0002c0003t0001g0085 a0002c0003t0001g0156 a0002c0003t0001g0241 a0002c0003t0001g0249 a0002c0003t0001g0256 a0002c0003t0001g0283 a0002c0003t0001g0285 a0002c0003t0001g0333 a0002c0003t0001g0335 a0002c0003t0001g0337 a0002c0003t0001g0340 a0002c0003t0001g0342 a0002c0003t0001g0353 a0002c0003t0001g0389 a0002c0003t0001g0391 a0002c0003t0008g0011 a0004c0005t0010g0272	43	406	0.1059	8	c.-18 others(29): Show c.-188+12244_-188+12251dupCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AAAS_chr12_53302460_53326610	53318223	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(66): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03492.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA18941.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18965.hp2 NA18971.hp1 NA18973.hp2 NA18978.hp1 NA18995.hp2 NA18999.hp1 NA19007.hp1 NA19043.hp1 NA19058.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA20300.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0006t0001 a0003c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(32): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0003g0048 a0001c0003t0001g0020 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0164 a0001c0006t0001g0017 a0003c0009t0001g0189	69	330	0.2091	8	c.251 others(25): Show c.251+2334_251+2341dupACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318243	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01074.hp1 others(4): Show HG00280.hp2 HG00639.hp2 HG01074.hp1 HG01192.hp1 HG01243.hp2 HG02055.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0115 a0001c0010t0001g0080	7	330	0.0212	8	c.251 others(25): Show c.251+2321_251+2322insGCACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318247	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01258.hp2 HG01433.hp2 others(13): Show HG01243.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp2 HG02559.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03492.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0120 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125	16	330	0.0485	8	c.251 others(25): Show c.251+2317_251+2318insGCACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318249	T T	TGTGTGTG others(1): Show TGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp1 HG02280.hp2 others(5): Show HG01099.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02886.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0131 a0001c0001t0001g0132 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0002t0001g0130 a0001c0002t0001g0133	8	330	0.0242	8	c.251 others(25): Show c.251+2315_251+2316insGCACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AADACL2_chr3_151728927_151766339	151731938	G G	GAGATAGA others(1): Show GAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp2 others(46): Show HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01123.hp1 HG01346.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp2 HG02559.hp1 HG02602.hp1 HG02717.hp2 HG03130.hp1 HG03491.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18940.hp1 NA18941.hp2 NA18949.hp2 NA18953.hp2 NA18956.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp1 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19072.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0026 a0002c0002t0036 a0002c0002t0037 a0002c0002t0040 a0002c0002t0041 a0002c0002t0042 a0002c0002t0051 a0002c0002t0062 a0003c0003t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0019	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0002g0117 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0002g0117 a0001c0001t0003g0046 a0001c0001t0004g0005 a0001c0001t0013g0109 a0001c0001t0017g0001 a0001c0001t0017g0029 a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0004g0005 a0002c0002t0005g0004 a0002c0002t0005g0005 a0002c0002t0005g0017 a0002c0002t0010g0005 a0002c0002t0011g0005 a0002c0002t0012g0005 a0002c0002t0012g0108 a0002c0002t0012g0115 a0002c0002t0013g0047 a0002c0002t0026g0048 a0002c0002t0036g0005 a0002c0002t0037g0022 a0002c0002t0040g0005 a0002c0002t0041g0005 a0002c0002t0042g0005 a0002c0002t0051g0022 a0002c0002t0062g0004 a0003c0003t0001g0026 a0004c0004t0002g0107 a0004c0004t0004g0005 a0004c0004t0019g0005	49	428	0.1145	8	c.-20 others(19): Show c.-2098_-2097insAGATAGAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1988		chr3	TogoVar
AADACL2_chr3_151728927_151766339	151748095	C C	CGTGCAGA others(1): Show CGTGCAGAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show HG01069.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0063 a0001c0001t0064 others(3): Show a0001c0001t0006 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0002c0002t0006	a0001c0001t0006g0016 a0001c0001t0006g0021 a0001c0001t0006g0050 others(13): Show a0001c0001t0006g0016 a0001c0001t0006g0021 a0001c0001t0006g0050 a0001c0001t0006g0065 a0001c0001t0006g0069 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0119 a0001c0001t0063g0058 a0001c0001t0064g0123 a0001c0001t0065g0094 a0001c0001t0066g0016 a0002c0002t0006g0085	21	428	0.0491	8	c.603 others(25): Show c.603+2417_603+2424dupTGCAGATG	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL2_chr3_151728927_151766339	151761204	G G	GATATATA others(1): Show GATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG01074.hp1 others(22): Show HG00609.hp2 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01516.hp2 HG02055.hp2 HG02451.hp1 HG02698.hp1 HG02818.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp2 HG03927.hp1 NA18522.hp1 NA18954.hp2 NA18960.hp1 NA18966.hp2 NA18978.hp2 NA18983.hp1 NA19066.hp2 NA19075.hp2 NA19083.hp1 NA19090.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0001c0001t0023 a0001c0001t0043 others(3): Show a0001c0001t0015 a0001c0001t0023 a0001c0001t0043 a0001c0001t0061 a0002c0002t0012 a0002c0002t0026	a0001c0001t0015g0006 a0001c0001t0015g0099 a0001c0001t0015g0116 others(16): Show a0001c0001t0015g0006 a0001c0001t0015g0099 a0001c0001t0015g0116 a0001c0001t0015g0136 a0001c0001t0015g0147 a0001c0001t0023g0034 a0001c0001t0023g0089 a0001c0001t0023g0096 a0001c0001t0043g0011 a0001c0001t0061g0004 a0002c0002t0012g0003 a0002c0002t0012g0005 a0002c0002t0012g0020 a0002c0002t0012g0041 a0002c0002t0012g0077 a0002c0002t0012g0080 a0002c0002t0012g0108 a0002c0002t0012g0115 a0002c0002t0026g0048	25	428	0.0584	8	c.36 others(19): Show c.3641_*3648dupATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3649	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL4_chr1_12639085_12672076	12645245	T T	TCCTCCCT others(1): Show TCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18971.hp2 NA21309.hp2 NA18939.hp2 NA18971.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0067 a0001c0001t0001g0008 a0001c0001t0001g0067	3	310	0.0097	8	c.168 others(23): Show c.168+551_168+558dupCCCTCCCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648346	A A	ATCCTTCC others(1): Show ATCCTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(23): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00673.hp1 HG00738.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG02572.hp1 HG02886.hp2 HG03017.hp1 HG03139.hp1 HG03471.hp1 HG03942.hp2 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18962.hp1 NA18980.hp2 NA18992.hp2 NA18998.hp2 NA19066.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0072 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0002g0118 a0001c0001t0005g0121 a0001c0001t0005g0251 a0003c0004t0001g0242	26	310	0.0839	8	c.169 others(25): Show c.169-2739_169-2732dupCCTTCCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648388	C C	CCTTTCTT others(1): Show CCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02818.hp2 HG03453.hp2 HG01175.hp2 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0253	3	310	0.0097	8	c.169 others(25): Show c.169-2733_169-2726dupTTTCTTTC	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658108	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00738.hp2 others(25): Show HG00140.hp1 HG00140.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01258.hp2 HG01361.hp2 HG01943.hp2 HG02004.hp2 HG02148.hp1 HG02165.hp1 HG02717.hp1 HG02809.hp2 HG02965.hp1 HG03209.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18966.hp1 NA18974.hp1 NA18998.hp1 NA19070.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0020 others(21): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0249 a0001c0001t0005g0219	28	310	0.0903	8	c.386 others(25): Show c.386-3656_386-3649dupCCTTCCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTTCTT others(1): Show CCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01934.hp1 HG01975.hp2 others(2): Show HG01256.hp1 HG01934.hp1 HG01975.hp2 HG02132.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0076 a0001c0001t0001g0162 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0076 a0001c0001t0001g0162 a0001c0001t0001g0217	5	310	0.0161	8	c.386 others(25): Show c.386-3631_386-3624dupCTTTCTTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADAC_chr3_151809116_151833488	151820131	C C	CAAAGGCA others(1): Show CAAAGGCAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp2 others(29): Show HG00140.hp2 HG00280.hp2 HG00639.hp2 HG00735.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02886.hp1 HG02970.hp2 HG03139.hp2 HG03491.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18950.hp2 NA18981.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0026 others(11): Show a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055	32	440	0.0727	8	c.362 others(23): Show c.362-250_362-249insAGGCAAAA	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
AADAC_chr3_151809116_151833488	151831382	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01891.hp2 others(2): Show HG00639.hp1 HG00642.hp2 HG01891.hp2 HG02965.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0099 a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0099	5	440	0.0114	8	c.32 others(19): Show c.3210_*3211insACACACAC	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding		2895		chr3	TogoVar
AADAC_chr3_151809116_151833488	151831382	T T	TATACACA others(1): Show TATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp2 others(58): Show HG00140.hp2 HG00280.hp2 HG00639.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03491.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18950.hp2 NA18966.hp2 NA18978.hp1 NA19006.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19066.hp2 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0006 a0001c0001 a0001c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0004c0006t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(23): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0005t0001g0018 a0004c0006t0001g0005	61	440	0.1386	8	c.32 others(19): Show c.3210_*3211insATACACAC	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding		2895		chr3	TogoVar
AADAT_chr4_170055222_170094956	170056435	A A	AATATATA others(1): Show AATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02080.hp1 HG02080.hp2 others(4): Show HG00735.hp1 HG02080.hp1 HG02080.hp2 NA18962.hp1 NA19000.hp1 NA19000.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0150	7	378	0.0185	8	c.44 others(19): Show c.4492_*4493insATATATAT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3786		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(1): Show GCGCACACA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02165.hp2 HG02572.hp1 others(3): Show HG01071.hp2 HG02165.hp2 HG02572.hp1 HG02630.hp2 HG06807.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0008 a0002c0002t0002 a0001c0001t0002 a0001c0001t0008 a0002c0002t0002	a0001c0001t0002g0030 a0001c0001t0002g0060 a0001c0001t0002g0061 others(3): Show a0001c0001t0002g0030 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0070 a0001c0001t0008g0017 a0002c0002t0002g0106	6	380	0.0158	8	c.535 others(25): Show c.535+9571_535+9572insTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCAC others(1): Show GCGCGCACA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02897.hp1 HG03195.hp1 others(2): Show HG01433.hp2 HG02897.hp1 HG03195.hp1 NA18992.hp2 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 a0001c0001t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0006g0237 others(2): Show a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0006g0237 a0002c0002t0002g0075 a0002c0002t0002g0123	5	380	0.0132	8	c.535 others(25): Show c.535+9571_535+9572insTGTGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGC others(1): Show GCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18952.hp2 NA18990.hp1 others(1): Show HG02109.hp1 NA18952.hp2 NA18990.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0250 a0002c0002t0002g0107 a0002c0002t0002g0110 others(1): Show a0001c0001t0004g0250 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0113	4	380	0.0105	8	c.535 others(25): Show c.535+9571_535+9572insTGCGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67241040	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01891.hp2 others(15): Show HG00621.hp1 HG00639.hp1 HG01891.hp2 HG02055.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0001 a0001c0001t0002 a0001c0001t0021	a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0269 others(14): Show a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0290 a0001c0001t0001g0337 a0001c0001t0001g0355 a0001c0001t0002g0003 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0053 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0021g0025	18	380	0.0474	8	c.74- others(23): Show c.74-4228_74-4221dupGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67251236	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02040.hp2 HG02083.hp2 others(12): Show HG00544.hp2 HG02040.hp2 HG02083.hp2 HG02723.hp2 NA18747.hp1 NA18953.hp2 NA18964.hp2 NA18970.hp1 NA18991.hp2 NA19005.hp2 NA19010.hp2 NA19067.hp1 NA19077.hp1 NA19078.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0002c0002t0007 a0001c0001t0005 a0002c0002t0003 a0002c0002t0007	a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(12): Show a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0212 a0002c0002t0007g0130	15	380	0.0395	8	c.73+ others(23): Show c.73+3315_73+3322dupCACACACA	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69488149	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG02572.hp2 others(7): Show HG00140.hp1 HG01175.hp1 HG02572.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18967.hp1 NA18992.hp2 NA19062.hp2 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0013 a0001c0001 a0002c0002 a0004c0013	a0001c0001t0013 a0001c0001t0149 a0002c0002t0001 others(6): Show a0001c0001t0013 a0001c0001t0149 a0002c0002t0001 a0002c0002t0013 a0002c0002t0039 a0002c0002t0050 a0002c0002t0085 a0002c0002t0130 a0004c0013t0043	a0001c0001t0013g0151 a0001c0001t0149g0280 a0002c0002t0001g0040 others(7): Show a0001c0001t0013g0151 a0001c0001t0149g0280 a0002c0002t0001g0040 a0002c0002t0013g0110 a0002c0002t0013g0112 a0002c0002t0039g0004 a0002c0002t0050g0035 a0002c0002t0085g0109 a0002c0002t0130g0243 a0004c0013t0043g0284	10	298	0.0336	8	c.236 others(27): Show c.2366-5345_2366-5338dupACACACAC	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69490923	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG02630.hp1 others(3): Show HG01243.hp2 HG02572.hp2 HG02630.hp1 HG03453.hp1 HG03471.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0026 others(2): Show a0001c0001 a0001c0006 a0001c0026 a0004c0012 a0004c0013	a0001c0001t0140 a0001c0006t0016 a0001c0026t0152 others(2): Show a0001c0001t0140 a0001c0006t0016 a0001c0026t0152 a0004c0012t0036 a0004c0013t0043	a0001c0001t0140g0269 a0001c0006t0016g0017 a0001c0006t0016g0061 others(3): Show a0001c0001t0140g0269 a0001c0006t0016g0017 a0001c0006t0016g0061 a0001c0026t0152g0295 a0004c0012t0036g0283 a0004c0013t0043g0284	6	298	0.0201	8	c.236 others(27): Show c.2365+5054_2365+5061dupTGTGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69492518	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp1 HG01258.hp1 others(15): Show HG00544.hp1 HG01167.hp1 HG01258.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02148.hp2 HG02300.hp2 HG02559.hp1 HG02738.hp1 HG02965.hp2 NA18906.hp2 NA18992.hp1 NA18993.hp1 NA19007.hp2 NA19066.hp2 NA19078.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0011 a0004c0013 a0001c0001 a0001c0011 a0004c0013	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(9): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0075 a0001c0001t0078 a0001c0001t0089 a0001c0001t0112 a0001c0001t0119 a0001c0001t0143 a0001c0011t0029 a0004c0013t0107	a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0004g0258 others(15): Show a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0004g0258 a0001c0001t0004g0261 a0001c0001t0006g0207 a0001c0001t0006g0218 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0011g0197 a0001c0001t0014g0059 a0001c0001t0075g0020 a0001c0001t0078g0055 a0001c0001t0089g0122 a0001c0001t0112g0170 a0001c0001t0119g0181 a0001c0001t0143g0198 a0001c0011t0029g0294 a0004c0013t0107g0107	18	298	0.0604	8	c.236 others(27): Show c.2365+3459_2365+3466dupAAAAAAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03831.hp2 NA19006.hp2 HG00140.hp1 HG03831.hp2 NA19006.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0018 a0001c0001 a0002c0002 a0007c0018	a0001c0001t0113 a0002c0002t0001 a0007c0018t0002 a0001c0001t0113 a0002c0002t0001 a0007c0018t0002	a0001c0001t0113g0178 a0002c0002t0001g0040 a0007c0018t0002g0165 a0001c0001t0113g0178 a0002c0002t0001g0040 a0007c0018t0002g0165	3	298	0.0101	8	c.227 others(27): Show c.2270-4592_2270-4585dupATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATACA others(1): Show TATATACAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01891.hp2 HG02257.hp2 others(3): Show HG01175.hp2 HG01891.hp2 HG02257.hp2 HG02976.hp2 HG03225.hp1 HG04115.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0007 a0002c0002 others(2): Show a0001c0004 a0001c0007 a0002c0002 a0002c0019 a0003c0014	a0001c0004t0010 a0001c0007t0148 a0002c0002t0001 others(2): Show a0001c0004t0010 a0001c0007t0148 a0002c0002t0001 a0002c0019t0065 a0003c0014t0025	a0001c0004t0010g0127 a0001c0007t0148g0277 a0002c0002t0001g0051 others(3): Show a0001c0004t0010g0127 a0001c0007t0148g0277 a0002c0002t0001g0051 a0002c0019t0065g0062 a0003c0014t0025g0285 a0003c0014t0025g0286	6	298	0.0201	8	c.227 others(27): Show c.2270-4619_2270-4618insGTGTATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69506868	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp2 HG01243.hp1 others(14): Show HG00323.hp1 HG01074.hp2 HG01243.hp1 HG01243.hp2 HG02040.hp2 HG02109.hp1 HG02132.hp2 HG02559.hp2 HG02622.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03486.hp1 HG03579.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0008 others(4): Show a0001c0001 a0001c0004 a0001c0008 a0001c0026 a0002c0005 a0002c0016 a0007c0017	a0001c0001t0014 a0001c0001t0037 a0001c0001t0045 others(11): Show a0001c0001t0014 a0001c0001t0037 a0001c0001t0045 a0001c0001t0139 a0001c0001t0140 a0001c0004t0010 a0001c0008t0097 a0001c0008t0135 a0001c0026t0152 a0002c0005t0018 a0002c0005t0100 a0002c0016t0103 a0002c0016t0134 a0007c0017t0066	a0001c0001t0014g0059 a0001c0001t0014g0060 a0001c0001t0037g0009 others(14): Show a0001c0001t0014g0059 a0001c0001t0014g0060 a0001c0001t0037g0009 a0001c0001t0045g0287 a0001c0001t0139g0231 a0001c0001t0140g0269 a0001c0004t0010g0148 a0001c0008t0097g0131 a0001c0008t0135g0262 a0001c0026t0152g0295 a0002c0005t0018g0064 a0002c0005t0018g0103 a0002c0005t0018g0104 a0002c0005t0100g0116 a0002c0016t0103g0106 a0002c0016t0134g0272 a0007c0017t0066g0076	17	298	0.0571	8	c.216 others(25): Show c.2164+545_2164+552dupCACACACA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	15/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69633217	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01257.hp1 HG01358.hp2 others(20): Show HG00544.hp1 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02083.hp1 HG02293.hp2 HG02300.hp2 NA18945.hp2 NA18954.hp2 NA19005.hp1 NA19060.hp2 NA19068.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0025 a0001c0001 a0002c0002 a0009c0025	a0001c0001t0004 a0001c0001t0006 a0001c0001t0034 others(6): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0034 a0001c0001t0119 a0001c0001t0126 a0001c0001t0136 a0001c0001t0147 a0002c0002t0115 a0009c0025t0003	a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(20): Show a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0034g0267 a0001c0001t0119g0181 a0001c0001t0126g0219 a0001c0001t0136g0212 a0001c0001t0147g0274 a0002c0002t0115g0180 a0009c0025t0003g0260	23	298	0.0772	8	c.163 others(25): Show c.163+9660_163+9661insTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69633218	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02015.hp1 others(27): Show HG00735.hp2 HG01243.hp2 HG02015.hp1 HG02602.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18956.hp1 NA18963.hp2 NA18980.hp1 NA18992.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0002c0002 a0002c0005 a0004c0012	a0001c0001t0004 a0001c0001t0011 a0001c0001t0020 others(21): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0020 a0001c0001t0104 a0001c0001t0117 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0143 a0001c0001t0144 a0001c0001t0149 a0001c0003t0142 a0001c0004t0146 a0001c0004t0153 a0001c0006t0016 a0001c0007t0021 a0001c0007t0034 a0001c0007t0035 a0001c0007t0148 a0002c0002t0003 a0002c0005t0122 a0002c0005t0123 a0002c0005t0150 a0004c0012t0036	a0001c0001t0004g0261 a0001c0001t0011g0192 a0001c0001t0011g0195 others(27): Show a0001c0001t0004g0261 a0001c0001t0011g0192 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0011g0197 a0001c0001t0020g0193 a0001c0001t0020g0202 a0001c0001t0020g0208 a0001c0001t0104g0292 a0001c0001t0117g0189 a0001c0001t0138g0209 a0001c0001t0139g0231 a0001c0001t0140g0269 a0001c0001t0143g0198 a0001c0001t0144g0232 a0001c0001t0149g0280 a0001c0003t0142g0214 a0001c0004t0146g0273 a0001c0004t0153g0296 a0001c0006t0016g0289 a0001c0007t0021g0276 a0001c0007t0021g0279 a0001c0007t0034g0270 a0001c0007t0035g0271 a0001c0007t0148g0277 a0002c0002t0003g0215 a0002c0005t0122g0182 a0002c0005t0123g0183 a0002c0005t0150g0281 a0004c0012t0036g0283	30	298	0.1007	8	c.163 others(25): Show c.163+9652_163+9659dupTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69640014	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02293.hp2 others(7): Show HG01257.hp1 HG01258.hp1 HG02293.hp2 NA18943.hp2 NA18956.hp1 NA18963.hp1 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0138 a0001c0001t0147 a0002c0002t0131 a0002c0002t0133	a0001c0001t0004g0206 a0001c0001t0006g0205 a0001c0001t0006g0207 others(7): Show a0001c0001t0004g0206 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0011g0192 a0001c0001t0020g0193 a0001c0001t0020g0208 a0001c0001t0138g0209 a0001c0001t0147g0274 a0002c0002t0131g0211 a0002c0002t0133g0210	10	298	0.0336	8	c.163 others(25): Show c.163+2856_163+2863dupGTGTGTGT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69644165	T T	TTCGCGCC others(1): Show TTCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp2 NA19240.hp2 HG02109.hp1 HG02572.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0013 a0001c0001 a0001c0009 a0004c0013	a0001c0001t0045 a0001c0009t0141 a0004c0013t0043 a0001c0001t0045 a0001c0009t0141 a0004c0013t0043	a0001c0001t0045g0287 a0001c0009t0141g0191 a0004c0013t0043g0284 a0001c0001t0045g0287 a0001c0009t0141g0191 a0004c0013t0043g0284	3	298	0.0101	8	c.-82 others(17): Show c.-826_-825insGGGCGCGA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		427		chr2	TogoVar
AAK1_chr2_69452997_69648739	69647388	T T	TTTTATTT others(1): Show TTTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02109.hp1 HG02132.hp2 others(14): Show HG00099.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03209.hp2 HG03540.hp2 HG03669.hp1 HG06807.hp1 NA18950.hp2 NA19056.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0009 others(4): Show a0001c0001 a0001c0004 a0001c0009 a0001c0026 a0002c0002 a0002c0005 a0007c0017	a0001c0001t0037 a0001c0001t0045 a0001c0001t0057 others(12): Show a0001c0001t0037 a0001c0001t0045 a0001c0001t0057 a0001c0001t0105 a0001c0004t0017 a0001c0004t0068 a0001c0004t0070 a0001c0004t0071 a0001c0009t0035 a0001c0009t0125 a0001c0026t0152 a0002c0002t0001 a0002c0002t0015 a0002c0005t0040 a0007c0017t0066	a0001c0001t0037g0009 a0001c0001t0045g0287 a0001c0001t0057g0291 others(14): Show a0001c0001t0037g0009 a0001c0001t0045g0287 a0001c0001t0057g0291 a0001c0001t0105g0108 a0001c0004t0017g0073 a0001c0004t0017g0075 a0001c0004t0017g0078 a0001c0004t0068g0079 a0001c0004t0070g0071 a0001c0004t0071g0074 a0001c0009t0035g0190 a0001c0009t0125g0179 a0001c0026t0152g0295 a0002c0002t0001g0025 a0002c0002t0015g0002 a0002c0005t0040g0006 a0007c0017t0066g0076	17	298	0.0571	8	c.-40 others(19): Show c.-4056_-4049dupTAAATAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding		3650		chr2	TogoVar
AANAT_chr17_76462603_76475117	76463309	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp1 others(77): Show HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18983.hp2 NA18988.hp1 NA18998.hp1 NA19057.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0014	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0006t0001 a0002c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0005g0001 a0001c0002t0001g0001 a0001c0006t0001g0001 a0002c0014t0001g0001	80	426	0.1878	8	c.-44 others(19): Show c.-4494_-4493insTTTTTTTT	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding		4293		chr17	TogoVar
AAR2_chr20_36231478_36261933	36232816	C C	CCTCTCTC others(1): Show CCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02280.hp1 HG02451.hp1 others(8): Show HG02083.hp2 HG02280.hp1 HG02451.hp1 HG02897.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0157 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0157 a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0179 a0001c0002t0001g0181 a0001c0002t0002g0037 a0001c0007t0002g0191	11	298	0.0369	8	c.-37 others(19): Show c.-3736_-3735insCTCTCTCT	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		3661		chr20	TogoVar
AAR2_chr20_36231478_36261933	36258142	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG02004.hp1 others(10): Show HG01106.hp2 HG01361.hp1 HG02004.hp1 HG02027.hp2 HG02109.hp2 HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0007t0002	a0001c0001t0001g0018 a0001c0001t0001g0081 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0018 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0173 a0001c0001t0009g0151 a0001c0002t0001g0006 a0001c0002t0002g0031 a0001c0002t0002g0133 a0001c0002t0002g0148 a0001c0002t0002g0165 a0001c0007t0002g0191	13	298	0.0436	8	c.23 others(19): Show c.2397_*2398insACACACAC	AAR2	ENSG00000131043.13	transcript	ENST00000320849.9	protein_coding		1210		chr20	TogoVar
AARS1_chr16_70247298_70294506	70262967	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00558.hp1 others(15): Show HG00280.hp2 HG00423.hp1 HG00558.hp1 HG01081.hp2 HG02080.hp1 HG02083.hp2 HG02300.hp2 HG02630.hp2 HG02895.hp2 HG03130.hp2 HG03516.hp1 HG06807.hp2 NA18950.hp2 NA18994.hp2 NA19009.hp1 NA19065.hp2 NA19085.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0018 a0001c0001 a0001c0002 a0006c0018	a0001c0001t0001 a0001c0002t0001 a0006c0018t0001 a0001c0001t0001 a0001c0002t0001 a0006c0018t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 others(15): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0002t0001g0201 a0006c0018t0001g0016	18	362	0.0497	8	c.149 others(25): Show c.1493-451_1493-444dupTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	11/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(63): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02071.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02559.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG03490.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 NA18747.hp1 NA18939.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18966.hp2 NA18970.hp1 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19063.hp2 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19090.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0007 a0003c0005 others(1): Show a0001c0001 a0001c0007 a0003c0005 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0007t0001 a0003c0005t0001 a0010c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0031 others(63): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0002g0310 a0001c0001t0007g0334 a0001c0001t0008g0261 a0001c0007t0001g0070 a0001c0007t0001g0092 a0003c0005t0001g0151 a0010c0014t0001g0110	66	362	0.1823	8	c.480 others(23): Show c.480-925_480-918dupGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS2_chr6_44293731_44318347	44313696	C C	CGTGTGTG others(1): Show CGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 NA18979.hp2 NA20805.hp1 HG00140.hp1 NA18979.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0004 a0001c0002t0002g0035 a0001c0001t0005g0004 a0001c0002t0002g0035	3	396	0.0076	8	c.-37 others(17): Show c.-374_-373insACACACAC	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		350		chr6	TogoVar

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