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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ABCC12_chr16_48075882_48160993	48088538	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02055.hp2 HG02109.hp1 others(5): Show HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02559.hp2 HG03098.hp1 HG03130.hp2 NA18906.hp2	a0004 a0004	a0004c0007 a0004c0013 a0004c0007 a0004c0013	a0004c0007t0003 a0004c0013t0003 a0004c0007t0003 a0004c0013t0003	a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 others(5): Show a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 a0004c0007t0003g0104 a0004c0007t0003g0105 a0004c0007t0003g0116 a0004c0013t0003g0108 a0004c0013t0003g0114	8	134	0.0597	0	c.347 others(6): Show c.3475+7A>G		ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	26/30					chr16	TogoVar
ABCC12_chr16_48075882_48160993	48088545	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG02572.hp2 HG02615.hp1 others(3): Show HG01884.hp1 HG02572.hp2 HG02615.hp1 HG02895.hp2 HG03486.hp2 NA20129.hp1	a0012 a0014 a0015 a0012 a0014 a0015	a0012c0020 a0014c0016 a0015c0015 a0012c0020 a0014c0016 a0015c0015	a0012c0020t0005 a0014c0016t0005 a0015c0015t0008 a0012c0020t0005 a0014c0016t0005 a0015c0015t0008	a0012c0020t0005g0007 a0014c0016t0005g0004 a0015c0015t0008g0041 others(1): Show a0012c0020t0005g0007 a0014c0016t0005g0004 a0015c0015t0008g0041 a0015c0015t0008g0112	6	134	0.0448	0	c.347 others(4): Show c.3475G>A	p.Gly others(7): Show p.Gly1159Arg	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	26/31	3947/7385	3475/4080	1159/1359		chr16	TogoVar
ABCC12_chr16_48075882_48160993	48100873	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01496.hp2 HG01884.hp1 HG01891.hp2 others(33): Show HG01496.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0004 a0006 a0008 others(9): Show a0004 a0006 a0008 a0010 a0012 a0014 a0015 a0017 a0018 a0020 a0023 a0024	a0004c0007 a0004c0013 a0006c0010 others(14): Show a0004c0007 a0004c0013 a0006c0010 a0006c0021 a0006c0029 a0006c0030 a0008c0008 a0010c0018 a0010c0026 a0012c0020 a0014c0016 a0015c0015 a0017c0011 a0018c0012 a0020c0023 a0023c0022 a0024c0028	a0004c0007t0003 a0004c0013t0003 a0006c0010t0002 others(16): Show a0004c0007t0003 a0004c0013t0003 a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 a0006c0030t0001 a0008c0008t0009 a0008c0008t0010 a0008c0008t0015 a0010c0018t0011 a0010c0026t0016 a0012c0020t0005 a0014c0016t0005 a0015c0015t0008 a0017c0011t0006 a0018c0012t0007 a0020c0023t0006 a0023c0022t0012 a0024c0028t0002	a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 others(29): Show a0004c0007t0003g0101 a0004c0007t0003g0102 a0004c0007t0003g0103 a0004c0007t0003g0104 a0004c0007t0003g0105 a0004c0007t0003g0116 a0004c0013t0003g0108 a0004c0013t0003g0114 a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 a0006c0021t0002g0025 a0006c0021t0002g0026 a0006c0029t0018g0029 a0006c0030t0001g0119 a0008c0008t0009g0005 a0008c0008t0010g0014 a0008c0008t0010g0015 a0008c0008t0015g0016 a0010c0018t0011g0021 a0010c0018t0011g0039 a0010c0026t0016g0084 a0012c0020t0005g0007 a0014c0016t0005g0004 a0015c0015t0008g0041 a0015c0015t0008g0112 a0017c0011t0006g0115 a0017c0011t0006g0117 a0018c0012t0007g0012 a0020c0023t0006g0037 a0023c0022t0012g0028 a0024c0028t0002g0018	36	134	0.2687	0	c.303 others(4): Show c.3037T>C	p.Tyr others(7): Show p.Tyr1013His	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	23/31	3509/7385	3037/4080	1013/1359		chr16	TogoVar
ABCC12_chr16_48075882_48160993	48117254	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02559.hp2 HG02109.hp1 HG02559.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0104 a0004c0007t0003g0105 a0004c0007t0003g0104 a0004c0007t0003g0105	2	134	0.0149	0	c.178 others(6): Show c.1785+7G>A		ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	14/30					chr16	TogoVar
ABCC12_chr16_48075882_48160993	48146480	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG02109.hp2 HG02622.hp2 others(15): Show HG01496.hp2 HG02109.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 NA20300.hp1 NA20300.hp2	a0006 a0008 a0009 others(1): Show a0006 a0008 a0009 a0024	a0006c0010 a0006c0021 a0006c0029 others(4): Show a0006c0010 a0006c0021 a0006c0029 a0006c0030 a0008c0008 a0009c0009 a0024c0028	a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 others(6): Show a0006c0010t0002 a0006c0021t0002 a0006c0029t0018 a0006c0030t0001 a0008c0008t0009 a0008c0008t0010 a0008c0008t0015 a0009c0009t0001 a0024c0028t0002	a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 others(13): Show a0006c0010t0002g0023 a0006c0010t0002g0024 a0006c0010t0002g0027 a0006c0021t0002g0025 a0006c0021t0002g0026 a0006c0029t0018g0029 a0006c0030t0001g0119 a0008c0008t0009g0005 a0008c0008t0010g0014 a0008c0008t0010g0015 a0008c0008t0015g0016 a0009c0009t0001g0003 a0009c0009t0001g0017 a0009c0009t0001g0019 a0009c0009t0001g0020 a0024c0028t0002g0018	18	134	0.1343	0	c.-50 others(5): Show c.-50-6C>T		ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	2/30					chr16	TogoVar
ABCC1_chr16_15944616_16148053	16046021	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(131): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18960.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18978.hp1 NA18983.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19082.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011	a0001c0001 a0001c0005 a0001c0006 others(25): Show a0001c0001 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0014 a0001c0017 a0001c0020 a0001c0022 a0001c0023 a0001c0028 a0001c0029 a0001c0030 a0001c0037 a0001c0040 a0002c0010 a0002c0011 a0003c0024 a0003c0025 a0004c0026 a0004c0038 a0004c0039 a0005c0016 a0006c0019 a0007c0027 a0009c0021 a0011c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(53): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0005 a0001c0005t0007 a0001c0005t0022 a0001c0006t0002 a0001c0007t0001 a0001c0007t0005 a0001c0007t0008 a0001c0007t0011 a0001c0008t0009 a0001c0012t0002 a0001c0012t0011 a0001c0012t0012 a0001c0014t0003 a0001c0014t0007 a0001c0017t0002 a0001c0020t0002 a0001c0022t0009 a0001c0023t0001 a0001c0028t0002 a0001c0029t0002 a0001c0030t0001 a0001c0037t0012 a0001c0040t0015 a0002c0010t0002 a0002c0011t0003 a0002c0011t0007 a0003c0024t0021 a0003c0025t0006 a0004c0026t0006 a0004c0038t0006 a0004c0039t0006 a0005c0016t0006 a0006c0019t0010 a0007c0027t0001 a0009c0021t0006 a0011c0018t0003	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0040 others(131): Show a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0248 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0031 a0001c0001t0003g0061 a0001c0001t0003g0071 a0001c0001t0003g0124 a0001c0001t0003g0143 a0001c0001t0003g0236 a0001c0001t0004g0106 a0001c0001t0004g0111 a0001c0001t0004g0132 a0001c0001t0004g0166 a0001c0001t0004g0240 a0001c0001t0004g0247 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0094 a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0005g0104 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0006g0034 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0167 a0001c0001t0006g0220 a0001c0001t0007g0079 a0001c0001t0007g0245 a0001c0001t0008g0002 a0001c0001t0008g0054 a0001c0001t0008g0057 a0001c0001t0008g0186 a0001c0001t0008g0246 a0001c0001t0010g0042 a0001c0001t0010g0043 a0001c0001t0010g0087 a0001c0001t0010g0120 a0001c0001t0011g0032 a0001c0001t0011g0097 a0001c0001t0012g0033 a0001c0001t0012g0105 a0001c0001t0014g0072 a0001c0001t0014g0199 a0001c0001t0016g0018 a0001c0001t0016g0019 a0001c0001t0017g0021 a0001c0001t0017g0023 a0001c0001t0018g0176 a0001c0001t0020g0102 a0001c0001t0024g0211 a0001c0005t0001g0058 a0001c0005t0001g0065 a0001c0005t0002g0064 a0001c0005t0002g0067 a0001c0005t0002g0074 a0001c0005t0003g0153 a0001c0005t0004g0131 a0001c0005t0004g0169 a0001c0005t0004g0241 a0001c0005t0005g0095 a0001c0005t0005g0116 a0001c0005t0005g0119 a0001c0005t0007g0228 a0001c0005t0022g0243 a0001c0006t0002g0013 a0001c0006t0002g0044 a0001c0006t0002g0053 a0001c0006t0002g0073 a0001c0006t0002g0075 a0001c0006t0002g0244 a0001c0007t0001g0026 a0001c0007t0005g0027 a0001c0007t0005g0113 a0001c0007t0008g0115 a0001c0007t0011g0022 a0001c0008t0009g0004 a0001c0008t0009g0015 a0001c0008t0009g0016 a0001c0008t0009g0020 a0001c0008t0009g0185 a0001c0012t0002g0155 a0001c0012t0011g0081 a0001c0012t0012g0239 a0001c0014t0003g0149 a0001c0014t0007g0154 a0001c0017t0002g0007 a0001c0020t0002g0194 a0001c0022t0009g0006 a0001c0023t0001g0077 a0001c0028t0002g0066 a0001c0029t0002g0173 a0001c0030t0001g0181 a0001c0037t0012g0041 a0001c0040t0015g0182 a0002c0010t0002g0076 a0002c0010t0002g0127 a0002c0010t0002g0128 a0002c0010t0002g0129 a0002c0011t0003g0126 a0002c0011t0003g0130 a0002c0011t0003g0223 a0002c0011t0007g0052 a0003c0024t0021g0003 a0003c0025t0006g0001 a0004c0026t0006g0231 a0004c0038t0006g0092 a0004c0039t0006g0217 a0005c0016t0006g0088 a0006c0019t0010g0009 a0007c0027t0001g0029 a0009c0021t0006g0151 a0011c0018t0003g0123	134	249	0.5382	0	c.121 others(6): Show c.1218+8A>G		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	9/30					chr16	TogoVar
ABCC1_chr16_15944616_16148053	16052719	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 HG02622.hp1 HG02886.hp1 others(1): Show HG01496.hp1 HG02622.hp1 HG02886.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0038 a0001c0001 a0001c0002 a0004c0038	a0001c0001t0017 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0001t0017 a0001c0002t0002 a0001c0002t0005 a0004c0038t0006	a0001c0001t0017g0023 a0001c0002t0002g0150 a0001c0002t0005g0117 others(1): Show a0001c0001t0017g0023 a0001c0002t0002g0150 a0001c0002t0005g0117 a0004c0038t0006g0092	4	249	0.0161	0	c.138 others(6): Show c.1381-5C>G		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	10/30					chr16	TogoVar
ABCC1_chr16_15944616_16148053	16136650	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0056 a0001c0003t0008g0056	1	249	0.0040	0	c.429 others(6): Show c.4292+6C>T		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	29/30					chr16	TogoVar
ABCC2_chr10_99777640_99857594	99784600	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp2 HG03540.hp1 HG03471.hp2 HG03540.hp1	a0001 a0004 a0001 a0004	a0001c0014 a0004c0006 a0001c0014 a0004c0006	a0001c0014t0001 a0004c0006t0001 a0001c0014t0001 a0004c0006t0001	a0001c0014t0001g0021 a0004c0006t0001g0020 a0001c0014t0001g0021 a0004c0006t0001g0020	2	336	0.0060	0	c.34- others(4): Show c.34-8G>A		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	1/31					chr10	TogoVar
ABCC2_chr10_99777640_99857594	99817302	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0223 a0002c0003t0001g0223	1	336	0.0030	0	c.209 others(6): Show c.2095-6A>G		ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31					chr10	TogoVar
ABCC3_chr17_50629881_50697253	50668426	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01891.hp1 HG02280.hp1 others(5): Show HG01069.hp2 HG01891.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02630.hp1 HG03579.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0022 a0004c0007 a0004c0023 a0001c0022 a0004c0007 a0004c0023	a0001c0022t0001 a0004c0007t0001 a0004c0023t0001 a0001c0022t0001 a0004c0007t0001 a0004c0023t0001	a0001c0022t0001g0122 a0004c0007t0001g0005 a0004c0007t0001g0058 others(5): Show a0001c0022t0001g0122 a0004c0007t0001g0005 a0004c0007t0001g0058 a0004c0007t0001g0060 a0004c0007t0001g0118 a0004c0007t0001g0119 a0004c0007t0001g0203 a0004c0023t0001g0004	8	342	0.0234	0	c.178 others(6): Show c.1783-4G>A		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	13/30					chr17	TogoVar
ABCC3_chr17_50629881_50697253	50669336	T T	TTTCTCCT others(3): Show TTTCTCCTGTG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	342	0.0029	10	c.206 others(24): Show c.2065-15_2065-6dupTTCTCCTGTG		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	16/30				INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50678089	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp1 NA18955.hp2 NA18963.hp2 others(1): Show HG02155.hp1 NA18955.hp2 NA18963.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0160 others(1): Show a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0221	4	342	0.0117	0	c.357 others(6): Show c.3579-4A>G		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	24/30					chr17	TogoVar
ABCC3_chr17_50629881_50697253	50683943	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0247 a0002c0010t0001g0247	1	342	0.0029	0	c.395 others(6): Show c.3955-6G>A		ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	27/30					chr17	TogoVar
ABCC4_chr13_95014835_95306451	95021685	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(218): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(61): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0036 a0001c0039 a0001c0040 a0001c0041 a0001c0045 a0001c0046 a0001c0047 a0001c0049 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0065 a0001c0066 a0001c0068 a0001c0071 a0002c0004 a0002c0005 a0002c0015 a0002c0059 a0002c0061 a0002c0063 a0002c0064 a0002c0072 a0003c0008 a0003c0016 a0003c0029 a0004c0006 a0004c0030 a0005c0018 a0005c0019 a0006c0027 a0006c0038 a0006c0057 a0007c0043 a0007c0069 a0008c0031 a0008c0032 a0009c0033 a0010c0034 a0011c0056 a0012c0037 a0013c0048 a0014c0058 a0015c0062 a0016c0073 a0017c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(101): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0014 a0001c0003t0025 a0001c0007t0001 a0001c0007t0002 a0001c0007t0019 a0001c0009t0001 a0001c0009t0002 a0001c0009t0023 a0001c0010t0001 a0001c0010t0007 a0001c0010t0024 a0001c0011t0002 a0001c0011t0008 a0001c0012t0001 a0001c0012t0006 a0001c0012t0016 a0001c0013t0001 a0001c0013t0006 a0001c0014t0007 a0001c0014t0008 a0001c0017t0002 a0001c0017t0006 a0001c0021t0001 a0001c0022t0011 a0001c0022t0022 a0001c0023t0003 a0001c0023t0006 a0001c0024t0001 a0001c0024t0006 a0001c0025t0002 a0001c0025t0009 a0001c0036t0001 a0001c0039t0002 a0001c0040t0003 a0001c0041t0009 a0001c0045t0001 a0001c0046t0001 a0001c0047t0006 a0001c0049t0003 a0001c0051t0012 a0001c0052t0002 a0001c0053t0012 a0001c0054t0003 a0001c0055t0001 a0001c0065t0007 a0001c0066t0003 a0001c0068t0003 a0001c0071t0009 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0008 a0002c0005t0001 a0002c0005t0002 a0002c0015t0001 a0002c0015t0007 a0002c0015t0011 a0002c0059t0006 a0002c0061t0003 a0002c0063t0001 a0002c0064t0006 a0002c0072t0002 a0003c0008t0001 a0003c0008t0002 a0003c0016t0001 a0003c0016t0002 a0003c0016t0008 a0003c0029t0001 a0003c0029t0002 a0004c0006t0001 a0004c0006t0002 a0004c0006t0015 a0004c0030t0002 a0005c0018t0001 a0005c0018t0002 a0005c0019t0002 a0006c0027t0002 a0006c0038t0002 a0006c0057t0001 a0007c0043t0009 a0007c0069t0009 a0008c0031t0002 a0008c0032t0001 a0009c0033t0017 a0010c0034t0001 a0011c0056t0009 a0012c0037t0002 a0013c0048t0021 a0014c0058t0001 a0015c0062t0003 a0016c0073t0001 a0017c0035t0003	a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0064 others(218): Show a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0240 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0106 a0001c0001t0002g0160 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0006g0028 a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0008g0248 a0001c0001t0020g0168 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0139 a0001c0002t0001g0142 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0238 a0001c0002t0002g0048 a0001c0002t0002g0116 a0001c0002t0002g0125 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0178 a0001c0002t0002g0190 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0014g0184 a0001c0002t0018g0183 a0001c0003t0001g0020 a0001c0003t0001g0029 a0001c0003t0001g0036 a0001c0003t0001g0098 a0001c0003t0001g0134 a0001c0003t0001g0149 a0001c0003t0001g0155 a0001c0003t0001g0216 a0001c0003t0001g0225 a0001c0003t0001g0233 a0001c0003t0002g0023 a0001c0003t0002g0076 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0114 a0001c0003t0002g0179 a0001c0003t0002g0231 a0001c0003t0003g0135 a0001c0003t0014g0082 a0001c0003t0025g0243 a0001c0007t0001g0237 a0001c0007t0002g0107 a0001c0007t0002g0185 a0001c0007t0002g0219 a0001c0007t0002g0227 a0001c0007t0002g0229 a0001c0007t0019g0026 a0001c0009t0001g0047 a0001c0009t0001g0128 a0001c0009t0002g0021 a0001c0009t0002g0123 a0001c0009t0023g0034 a0001c0010t0001g0150 a0001c0010t0007g0143 a0001c0010t0007g0167 a0001c0010t0007g0180 a0001c0010t0024g0024 a0001c0011t0002g0088 a0001c0011t0002g0101 a0001c0011t0002g0202 a0001c0011t0008g0244 a0001c0012t0001g0081 a0001c0012t0006g0053 a0001c0012t0006g0224 a0001c0012t0016g0089 a0001c0013t0001g0037 a0001c0013t0006g0031 a0001c0014t0007g0170 a0001c0014t0007g0172 a0001c0014t0007g0191 a0001c0014t0008g0242 a0001c0017t0002g0086 a0001c0017t0002g0115 a0001c0017t0006g0138 a0001c0021t0001g0009 a0001c0021t0001g0011 a0001c0022t0011g0039 a0001c0022t0022g0161 a0001c0023t0003g0073 a0001c0023t0006g0008 a0001c0024t0001g0118 a0001c0024t0006g0032 a0001c0025t0002g0075 a0001c0025t0009g0121 a0001c0036t0001g0164 a0001c0039t0002g0113 a0001c0040t0003g0124 a0001c0041t0009g0127 a0001c0045t0001g0129 a0001c0046t0001g0078 a0001c0047t0006g0120 a0001c0049t0003g0067 a0001c0051t0012g0065 a0001c0052t0002g0068 a0001c0053t0012g0072 a0001c0054t0003g0131 a0001c0055t0001g0033 a0001c0065t0007g0006 a0001c0066t0003g0035 a0001c0068t0003g0007 a0001c0071t0009g0010 a0002c0004t0001g0079 a0002c0004t0001g0140 a0002c0004t0001g0147 a0002c0004t0001g0153 a0002c0004t0001g0182 a0002c0004t0002g0051 a0002c0004t0002g0052 a0002c0004t0002g0094 a0002c0004t0002g0100 a0002c0004t0002g0159 a0002c0004t0002g0193 a0002c0004t0002g0222 a0002c0004t0002g0234 a0002c0004t0003g0056 a0002c0004t0008g0241 a0002c0005t0001g0102 a0002c0005t0002g0017 a0002c0005t0002g0049 a0002c0005t0002g0092 a0002c0005t0002g0093 a0002c0005t0002g0111 a0002c0005t0002g0146 a0002c0005t0002g0152 a0002c0005t0002g0158 a0002c0005t0002g0217 a0002c0005t0002g0232 a0002c0005t0002g0235 a0002c0005t0002g0239 a0002c0015t0001g0025 a0002c0015t0007g0071 a0002c0015t0007g0091 a0002c0015t0011g0018 a0002c0059t0006g0058 a0002c0061t0003g0055 a0002c0063t0001g0070 a0002c0064t0006g0045 a0002c0072t0002g0041 a0003c0008t0001g0062 a0003c0008t0001g0099 a0003c0008t0001g0141 a0003c0008t0001g0205 a0003c0008t0001g0208 a0003c0008t0002g0207 a0003c0016t0001g0200 a0003c0016t0002g0228 a0003c0016t0008g0245 a0003c0029t0001g0213 a0003c0029t0002g0204 a0004c0006t0001g0005 a0004c0006t0001g0104 a0004c0006t0001g0136 a0004c0006t0001g0137 a0004c0006t0001g0157 a0004c0006t0001g0176 a0004c0006t0001g0192 a0004c0006t0002g0061 a0004c0006t0015g0105 a0004c0030t0002g0069 a0004c0030t0002g0156 a0005c0018t0001g0212 a0005c0018t0002g0108 a0005c0018t0002g0236 a0005c0019t0002g0175 a0005c0019t0002g0215 a0005c0019t0002g0223 a0006c0027t0002g0151 a0006c0027t0002g0194 a0006c0038t0002g0145 a0006c0057t0001g0087 a0007c0043t0009g0097 a0007c0069t0009g0043 a0008c0031t0002g0002 a0008c0032t0001g0004 a0009c0033t0017g0003 a0010c0034t0001g0001 a0011c0056t0009g0090 a0012c0037t0002g0112 a0013c0048t0021g0162 a0014c0058t0001g0218 a0015c0062t0003g0013 a0016c0073t0001g0186 a0017c0035t0003g0148	221	248	0.8911	0	c.387 others(6): Show c.3871-3T>C		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30					chr13	TogoVar
ABCC4_chr13_95014835_95306451	95166374	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02965.hp1 HG03139.hp2 others(1): Show HG01109.hp2 HG02965.hp1 HG03139.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0001c0040 others(1): Show a0001c0003 a0001c0010 a0001c0040 a0002c0064	a0001c0003t0003 a0001c0010t0001 a0001c0040t0003 others(1): Show a0001c0003t0003 a0001c0010t0001 a0001c0040t0003 a0002c0064t0006	a0001c0003t0003g0135 a0001c0010t0001g0150 a0001c0040t0003g0124 others(1): Show a0001c0003t0003g0135 a0001c0010t0001g0150 a0001c0040t0003g0124 a0002c0064t0006g0045	4	248	0.0161	0	c.182 others(6): Show c.1825-7A>G		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	14/30					chr13	TogoVar
ABCC4_chr13_95014835_95306451	95194940	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 NA18959.hp2 NA18988.hp2 HG00558.hp1 NA18959.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014	a0001c0002t0001g0181 a0001c0002t0002g0195 a0001c0002t0014g0184 a0001c0002t0001g0181 a0001c0002t0002g0195 a0001c0002t0014g0184	3	248	0.0121	0	c.116 others(6): Show c.1162-3T>C		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30					chr13	TogoVar
ABCC4_chr13_95014835_95306451	95206781	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00438.hp1 HG00639.hp2 HG01256.hp1 others(51): Show HG00438.hp1 HG00639.hp2 HG01256.hp1 HG01433.hp1 HG01891.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18988.hp1 NA18994.hp1 NA19005.hp2 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19079.hp1 NA19088.hp1 NA19240.hp2	a0002 a0005 a0009 others(2): Show a0002 a0005 a0009 a0014 a0015	a0002c0004 a0002c0005 a0002c0015 others(13): Show a0002c0004 a0002c0005 a0002c0015 a0002c0020 a0002c0028 a0002c0059 a0002c0060 a0002c0061 a0002c0063 a0002c0064 a0002c0072 a0005c0018 a0005c0019 a0009c0033 a0014c0058 a0015c0062	a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 others(23): Show a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0008 a0002c0004t0010 a0002c0005t0001 a0002c0005t0002 a0002c0005t0013 a0002c0015t0001 a0002c0015t0007 a0002c0015t0011 a0002c0020t0004 a0002c0028t0005 a0002c0028t0010 a0002c0059t0006 a0002c0060t0004 a0002c0061t0003 a0002c0063t0001 a0002c0064t0006 a0002c0072t0002 a0005c0018t0001 a0005c0018t0002 a0005c0019t0002 a0009c0033t0017 a0014c0058t0001 a0015c0062t0003	a0002c0004t0001g0079 a0002c0004t0001g0140 a0002c0004t0001g0147 others(51): Show a0002c0004t0001g0079 a0002c0004t0001g0140 a0002c0004t0001g0147 a0002c0004t0001g0153 a0002c0004t0001g0182 a0002c0004t0002g0051 a0002c0004t0002g0052 a0002c0004t0002g0094 a0002c0004t0002g0100 a0002c0004t0002g0159 a0002c0004t0002g0193 a0002c0004t0002g0222 a0002c0004t0002g0234 a0002c0004t0003g0056 a0002c0004t0008g0241 a0002c0004t0010g0122 a0002c0005t0001g0102 a0002c0005t0002g0017 a0002c0005t0002g0049 a0002c0005t0002g0092 a0002c0005t0002g0093 a0002c0005t0002g0111 a0002c0005t0002g0146 a0002c0005t0002g0152 a0002c0005t0002g0158 a0002c0005t0002g0217 a0002c0005t0002g0232 a0002c0005t0002g0235 a0002c0005t0002g0239 a0002c0005t0013g0060 a0002c0015t0001g0025 a0002c0015t0007g0071 a0002c0015t0007g0091 a0002c0015t0011g0018 a0002c0020t0004g0016 a0002c0020t0004g0057 a0002c0020t0004g0130 a0002c0028t0005g0059 a0002c0028t0010g0014 a0002c0059t0006g0058 a0002c0060t0004g0022 a0002c0061t0003g0055 a0002c0063t0001g0070 a0002c0064t0006g0045 a0002c0072t0002g0041 a0005c0018t0001g0212 a0005c0018t0002g0108 a0005c0018t0002g0236 a0005c0019t0002g0175 a0005c0019t0002g0215 a0005c0019t0002g0223 a0009c0033t0017g0003 a0014c0058t0001g0218 a0015c0062t0003g0013	54	248	0.2177	0	c.912 others(3): Show c.912G>T	p.Lys others(6): Show p.Lys304Asn	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/31	1049/5855	912/3978	304/1325		chr13	TogoVar
ABCC4_chr13_95014835_95306451	95247100	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(25): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG01099.hp1 HG01099.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02523.hp2 HG02738.hp2 HG03017.hp2 NA18950.hp2 NA18959.hp2 NA18974.hp2 NA18988.hp2 NA19002.hp1 NA19057.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0022 a0001c0054 a0002c0004 a0003c0016 a0013c0048	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0007t0002 a0001c0014t0007 a0001c0022t0022 a0001c0054t0003 a0002c0004t0001 a0002c0004t0002 a0003c0016t0001 a0003c0016t0002 a0013c0048t0021	a0001c0001t0001g0103 a0001c0001t0001g0163 a0001c0001t0002g0066 others(25): Show a0001c0001t0001g0103 a0001c0001t0001g0163 a0001c0001t0002g0066 a0001c0001t0002g0160 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0002t0001g0139 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0178 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0014g0184 a0001c0002t0018g0183 a0001c0007t0002g0185 a0001c0014t0007g0172 a0001c0022t0022g0161 a0001c0054t0003g0131 a0002c0004t0001g0182 a0002c0004t0002g0100 a0002c0004t0002g0222 a0003c0016t0001g0200 a0003c0016t0002g0228 a0013c0048t0021g0162	28	248	0.1129	0	c.186 others(5): Show c.186-5T>C		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	2/30					chr13	TogoVar
ABCC4_chr13_95014835_95306451	95247636	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02257.hp2 HG02280.hp1 others(3): Show HG02055.hp2 HG02257.hp2 HG02280.hp1 HG03098.hp2 HG03139.hp1 NA19240.hp1	a0001 a0001	a0001c0009 a0001c0013 a0001c0025 others(2): Show a0001c0009 a0001c0013 a0001c0025 a0001c0026 a0001c0045	a0001c0009t0001 a0001c0013t0001 a0001c0013t0006 others(3): Show a0001c0009t0001 a0001c0013t0001 a0001c0013t0006 a0001c0025t0002 a0001c0026t0005 a0001c0045t0001	a0001c0009t0001g0128 a0001c0013t0001g0037 a0001c0013t0006g0031 others(3): Show a0001c0009t0001g0128 a0001c0013t0001g0037 a0001c0013t0006g0031 a0001c0025t0002g0075 a0001c0026t0005g0133 a0001c0045t0001g0129	6	248	0.0242	0	c.185 others(5): Show c.185+7C>T		ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	2/30					chr13	TogoVar
ABCC5_chr3_183914934_184022884	183919934	T T	G G	splice_region_variant splice_region_variant	LOW	HG00597.hp2 HG00735.hp2 HG01192.hp2 others(62): Show HG00597.hp2 HG00735.hp2 HG01192.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01993.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02258.hp1 HG02523.hp1 HG02602.hp2 HG02723.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA19007.hp2 NA19012.hp1 NA19060.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0013 a0001c0022 a0004c0021	a0001c0001t0003 a0001c0001t0016 a0001c0002t0008 others(5): Show a0001c0001t0003 a0001c0001t0016 a0001c0002t0008 a0001c0007t0008 a0001c0009t0013 a0001c0013t0003 a0001c0022t0003 a0004c0021t0003	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0022 others(60): Show a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0259 a0001c0001t0016g0023 a0001c0002t0008g0261 a0001c0002t0008g0262 a0001c0002t0008g0263 a0001c0002t0008g0264 a0001c0007t0008g0253 a0001c0007t0008g0254 a0001c0009t0013g0236 a0001c0009t0013g0237 a0001c0013t0003g0090 a0001c0022t0003g0024 a0004c0021t0003g0212	65	378	0.1720	0	c.13 others(5): Show c.1366A>C		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	30/30					chr3	TogoVar
ABCC5_chr3_183914934_184022884	183938066	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	378	0.0027	0	c.369 others(6): Show c.3695-6C>T		ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	25/29					chr3	TogoVar
ABCC5_chr3_183914934_184022884	183981728	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(140): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0001c0009 others(3): Show a0001c0001 a0001c0008 a0001c0009 a0001c0020 a0001c0022 a0004c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0008t0001 a0001c0009t0013 a0001c0020t0001 a0001c0022t0003 a0004c0021t0003	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0021 others(136): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0259 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0094 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0151 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0178 a0001c0001t0005g0180 a0001c0001t0005g0182 a0001c0001t0005g0186 a0001c0001t0005g0187 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0198 a0001c0001t0006g0002 a0001c0001t0006g0015 a0001c0001t0006g0027 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0059 a0001c0001t0006g0288 a0001c0001t0006g0289 a0001c0001t0006g0351 a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0139 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0196 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0016g0023 a0001c0008t0001g0155 a0001c0008t0001g0181 a0001c0009t0013g0236 a0001c0009t0013g0237 a0001c0020t0001g0163 a0001c0022t0003g0024 a0004c0021t0003g0212	143	378	0.3783	0	c.114 others(4): Show c.1146A>G	p.Gln others(6): Show p.Gln382Gln	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	8/30	1256/5790	1146/4314	382/1437		chr3	TogoVar
ABCC6_chr16_16144565_16228494	16150780	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01928.hp2 HG01928.hp2	a0013 a0013	a0013c0050 a0013c0050	a0013c0050t0001 a0013c0050t0001	a0013c0050t0001g0040 a0013c0050t0001g0040	1	357	0.0028	0	c.420 others(6): Show c.4209-8G>A		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	29/30					chr16	TogoVar
ABCC6_chr16_16144565_16228494	16155038	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	357	0.0028	0	c.388 others(6): Show c.3883-7C>T		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	27/30					chr16	TogoVar
ABCC6_chr16_16144565_16228494	16159587	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0275 a0011c0016t0001g0275	1	357	0.0028	0	c.363 others(6): Show c.3634-4C>T		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	25/30					chr16	TogoVar
ABCC6_chr16_16144565_16228494	16161567	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp2 HG01069.hp2 others(1): Show HG00280.hp2 HG00323.hp2 HG01069.hp2 HG01175.hp1	a0010 a0010	a0010c0029 a0010c0042 a0010c0045 a0010c0029 a0010c0042 a0010c0045	a0010c0029t0001 a0010c0042t0001 a0010c0045t0001 a0010c0029t0001 a0010c0042t0001 a0010c0045t0001	a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 others(1): Show a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 a0010c0045t0001g0107	4	357	0.0112	0	c.350 others(6): Show c.3507-3C>T		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	24/30					chr16	TogoVar
ABCC6_chr16_16144565_16228494	16198014	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(34): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0023 a0025 a0026 a0027 a0029 a0030 a0031 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0042 a0043 a0044 a0045	a0001c0001 a0001c0002 a0001c0004 others(67): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0023 a0001c0026 a0001c0028 a0001c0033 a0001c0043 a0001c0047 a0001c0049 a0001c0052 a0001c0064 a0001c0065 a0001c0067 a0001c0072 a0002c0003 a0002c0013 a0002c0014 a0002c0022 a0002c0024 a0002c0051 a0002c0057 a0002c0068 a0002c0074 a0003c0005 a0003c0007 a0003c0021 a0003c0071 a0004c0017 a0004c0078 a0005c0012 a0005c0031 a0005c0048 a0006c0009 a0008c0011 a0009c0015 a0010c0029 a0010c0042 a0010c0045 a0011c0016 a0012c0025 a0012c0030 a0013c0020 a0013c0050 a0014c0018 a0015c0019 a0016c0036 a0017c0034 a0019c0027 a0020c0032 a0021c0079 a0023c0076 a0025c0053 a0026c0056 a0027c0073 a0029c0058 a0030c0046 a0031c0060 a0034c0063 a0035c0062 a0036c0066 a0037c0061 a0038c0069 a0039c0070 a0040c0041 a0042c0039 a0043c0040 a0044c0038 a0045c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(77): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0006t0009 a0001c0023t0001 a0001c0026t0001 a0001c0028t0001 a0001c0033t0001 a0001c0043t0001 a0001c0047t0002 a0001c0049t0001 a0001c0052t0001 a0001c0064t0005 a0001c0065t0001 a0001c0067t0001 a0001c0072t0001 a0002c0003t0001 a0002c0013t0001 a0002c0014t0001 a0002c0022t0001 a0002c0024t0001 a0002c0051t0001 a0002c0057t0001 a0002c0068t0001 a0002c0074t0001 a0003c0005t0001 a0003c0005t0005 a0003c0005t0008 a0003c0007t0001 a0003c0021t0001 a0003c0071t0001 a0004c0017t0001 a0004c0078t0001 a0005c0012t0001 a0005c0031t0001 a0005c0048t0001 a0006c0009t0001 a0008c0011t0003 a0009c0015t0001 a0010c0029t0001 a0010c0042t0001 a0010c0045t0001 a0011c0016t0001 a0011c0016t0006 a0012c0025t0001 a0012c0030t0001 a0013c0020t0001 a0013c0050t0001 a0014c0018t0001 a0015c0019t0001 a0016c0036t0001 a0017c0034t0001 a0019c0027t0007 a0020c0032t0001 a0021c0079t0001 a0023c0076t0001 a0025c0053t0001 a0026c0056t0001 a0027c0073t0001 a0029c0058t0001 a0030c0046t0001 a0031c0060t0010 a0034c0063t0001 a0035c0062t0001 a0036c0066t0001 a0037c0061t0001 a0038c0069t0001 a0039c0070t0002 a0040c0041t0001 a0042c0039t0001 a0043c0040t0001 a0044c0038t0001 a0045c0037t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(284): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0273 a0001c0001t0001g0308 a0001c0001t0001g0313 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0161 a0001c0001t0002g0204 a0001c0001t0002g0322 a0001c0001t0004g0071 a0001c0001t0004g0155 a0001c0001t0004g0181 a0001c0001t0004g0223 a0001c0001t0005g0206 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0054 a0001c0002t0001g0068 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0140 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0166 a0001c0002t0001g0174 a0001c0002t0001g0197 a0001c0002t0001g0222 a0001c0002t0001g0231 a0001c0002t0001g0287 a0001c0002t0001g0332 a0001c0002t0001g0354 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0004t0001g0006 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0065 a0001c0004t0001g0104 a0001c0004t0001g0109 a0001c0004t0001g0162 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0212 a0001c0004t0001g0220 a0001c0004t0001g0263 a0001c0004t0002g0106 a0001c0004t0002g0133 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0006t0001g0189 a0001c0006t0001g0276 a0001c0006t0001g0277 a0001c0006t0001g0278 a0001c0006t0001g0286 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0001g0292 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0006t0001g0298 a0001c0006t0001g0299 a0001c0006t0001g0300 a0001c0006t0001g0329 a0001c0006t0001g0330 a0001c0006t0002g0246 a0001c0006t0009g0285 a0001c0023t0001g0066 a0001c0023t0001g0100 a0001c0026t0001g0096 a0001c0026t0001g0272 a0001c0028t0001g0279 a0001c0028t0001g0295 a0001c0033t0001g0070 a0001c0043t0001g0236 a0001c0047t0002g0101 a0001c0049t0001g0352 a0001c0052t0001g0283 a0001c0064t0005g0324 a0001c0065t0001g0312 a0001c0067t0001g0351 a0001c0072t0001g0356 a0002c0003t0001g0002 a0002c0003t0001g0123 a0002c0003t0001g0141 a0002c0003t0001g0145 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0175 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0224 a0002c0003t0001g0225 a0002c0003t0001g0232 a0002c0003t0001g0261 a0002c0003t0001g0267 a0002c0003t0001g0316 a0002c0003t0001g0320 a0002c0003t0001g0333 a0002c0003t0001g0350 a0002c0013t0001g0241 a0002c0013t0001g0243 a0002c0013t0001g0244 a0002c0013t0001g0253 a0002c0013t0001g0266 a0002c0014t0001g0284 a0002c0014t0001g0288 a0002c0014t0001g0289 a0002c0014t0001g0328 a0002c0014t0001g0331 a0002c0022t0001g0095 a0002c0022t0001g0345 a0002c0024t0001g0152 a0002c0051t0001g0353 a0002c0057t0001g0255 a0002c0068t0001g0097 a0002c0074t0001g0185 a0003c0005t0001g0028 a0003c0005t0001g0029 a0003c0005t0001g0134 a0003c0005t0001g0157 a0003c0005t0001g0176 a0003c0005t0001g0177 a0003c0005t0001g0228 a0003c0005t0001g0260 a0003c0005t0001g0282 a0003c0005t0001g0307 a0003c0005t0001g0309 a0003c0005t0001g0314 a0003c0005t0001g0318 a0003c0005t0001g0319 a0003c0005t0001g0321 a0003c0005t0005g0213 a0003c0005t0008g0317 a0003c0007t0001g0036 a0003c0007t0001g0098 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0105 a0003c0007t0001g0110 a0003c0007t0001g0111 a0003c0007t0001g0211 a0003c0007t0001g0221 a0003c0007t0001g0245 a0003c0021t0001g0011 a0003c0021t0001g0012 a0003c0071t0001g0035 a0004c0017t0001g0192 a0004c0017t0001g0214 a0004c0017t0001g0254 a0004c0078t0001g0199 a0005c0012t0001g0027 a0005c0012t0001g0121 a0005c0012t0001g0130 a0005c0012t0001g0138 a0005c0012t0001g0139 a0005c0012t0001g0178 a0005c0031t0001g0132 a0005c0031t0001g0349 a0005c0048t0001g0063 a0006c0009t0001g0116 a0006c0009t0001g0119 a0006c0009t0001g0120 a0008c0011t0003g0058 a0008c0011t0003g0059 a0008c0011t0003g0060 a0008c0011t0003g0061 a0008c0011t0003g0062 a0008c0011t0003g0091 a0009c0015t0001g0018 a0009c0015t0001g0019 a0009c0015t0001g0022 a0009c0015t0001g0327 a0010c0029t0001g0158 a0010c0029t0001g0230 a0010c0042t0001g0099 a0010c0045t0001g0107 a0011c0016t0001g0275 a0011c0016t0006g0271 a0012c0025t0001g0007 a0012c0025t0001g0008 a0012c0030t0001g0113 a0012c0030t0001g0274 a0013c0020t0001g0057 a0013c0050t0001g0040 a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 a0014c0018t0001g0252 a0015c0019t0001g0122 a0015c0019t0001g0124 a0015c0019t0001g0125 a0016c0036t0001g0343 a0016c0036t0001g0344 a0017c0034t0001g0001 a0019c0027t0007g0293 a0019c0027t0007g0294 a0020c0032t0001g0051 a0020c0032t0001g0149 a0021c0079t0001g0238 a0023c0076t0001g0047 a0025c0053t0001g0153 a0026c0056t0001g0041 a0027c0073t0001g0016 a0029c0058t0001g0164 a0030c0046t0001g0304 a0031c0060t0010g0240 a0034c0063t0001g0170 a0035c0062t0001g0315 a0036c0066t0001g0052 a0037c0061t0001g0129 a0038c0069t0001g0015 a0039c0070t0002g0067 a0040c0041t0001g0216 a0042c0039t0001g0032 a0043c0040t0001g0031 a0044c0038t0001g0033 a0045c0037t0001g0355	288	357	0.8067	0	c.133 others(6): Show c.1338+7C>G		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	10/30					chr16	TogoVar
ABCC6_chr16_16144565_16228494	16208729	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00323.hp1 HG00642.hp1 HG00733.hp1 others(23): Show HG00323.hp1 HG00642.hp1 HG00733.hp1 HG01081.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02071.hp1 HG02258.hp2 HG02300.hp2 HG02970.hp1 HG03195.hp1 HG03471.hp2 HG03579.hp1 NA18942.hp1 NA18943.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp1 NA19007.hp1 NA19066.hp2 NA19079.hp2 NA19084.hp1 NA19240.hp1 NA20300.hp1	a0004 a0006 a0017 others(4): Show a0004 a0006 a0017 a0018 a0022 a0023 a0024	a0004c0010 a0004c0017 a0004c0078 others(6): Show a0004c0010 a0004c0017 a0004c0078 a0006c0009 a0017c0034 a0018c0035 a0022c0075 a0023c0076 a0024c0077	a0004c0010t0001 a0004c0017t0001 a0004c0078t0001 others(6): Show a0004c0010t0001 a0004c0017t0001 a0004c0078t0001 a0006c0009t0001 a0017c0034t0001 a0018c0035t0001 a0022c0075t0001 a0023c0076t0001 a0024c0077t0001	a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0045 others(22): Show a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0045 a0004c0010t0001g0046 a0004c0010t0001g0073 a0004c0010t0001g0075 a0004c0010t0001g0342 a0004c0017t0001g0076 a0004c0017t0001g0192 a0004c0017t0001g0214 a0004c0017t0001g0254 a0004c0078t0001g0199 a0006c0009t0001g0044 a0006c0009t0001g0048 a0006c0009t0001g0050 a0006c0009t0001g0116 a0006c0009t0001g0118 a0006c0009t0001g0119 a0006c0009t0001g0120 a0017c0034t0001g0001 a0018c0035t0001g0077 a0018c0035t0001g0078 a0022c0075t0001g0049 a0023c0076t0001g0047 a0024c0077t0001g0198	26	357	0.0728	0	c.793 others(3): Show c.793A>G	p.Arg others(6): Show p.Arg265Gly	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	7/31	853/5140	793/4512	265/1503		chr16	TogoVar
ABCC6_chr16_16144565_16228494	16208862	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 NA18522.hp2 HG01884.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0186 a0002c0003t0001g0187	2	357	0.0056	0	c.663 others(5): Show c.663-3C>T		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	6/30					chr16	TogoVar
ABCC6_chr16_16144565_16228494	16219555	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02258.hp1 HG02922.hp2 HG02965.hp1 others(1): Show HG02258.hp1 HG02922.hp2 HG02965.hp1 HG06807.hp1	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 others(1): Show a0014c0018t0001g0249 a0014c0018t0001g0250 a0014c0018t0001g0251 a0014c0018t0001g0252	4	357	0.0112	0	c.473 others(3): Show c.473C>T	p.Ala others(6): Show p.Ala158Val	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	4/31	533/5140	473/4512	158/1503		chr16	TogoVar
ABCC6_chr16_16144565_16228494	16219688	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG00642.hp1 HG00733.hp1 others(6): Show HG00323.hp1 HG00642.hp1 HG00733.hp1 HG01081.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG02300.hp2	a0004 a0006 a0022 others(1): Show a0004 a0006 a0022 a0023	a0004c0010 a0006c0009 a0022c0075 others(1): Show a0004c0010 a0006c0009 a0022c0075 a0023c0076	a0004c0010t0001 a0006c0009t0001 a0022c0075t0001 others(1): Show a0004c0010t0001 a0006c0009t0001 a0022c0075t0001 a0023c0076t0001	a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0045 others(6): Show a0004c0010t0001g0042 a0004c0010t0001g0043 a0004c0010t0001g0045 a0004c0010t0001g0046 a0006c0009t0001g0044 a0006c0009t0001g0048 a0006c0009t0001g0050 a0022c0075t0001g0049 a0023c0076t0001g0047	9	357	0.0252	0	c.346 others(5): Show c.346-6G>A		ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	3/30					chr16	TogoVar
ABCC8_chr11_17387885_17481845	17414512	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0009 a0009	a0009c0067 a0009c0067	a0009c0067t0001 a0009c0067t0001	a0009c0067t0001g0295 a0009c0067t0001g0295	1	330	0.0030	0	c.239 others(4): Show c.2390G>A	p.Arg others(6): Show p.Arg797Gln	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	19/39	2459/4921	2390/4746	797/1581		chr11	TogoVar
ABCC8_chr11_17387885_17481845	17414608	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0012 a0012	a0012c0072 a0012c0072	a0012c0072t0001 a0012c0072t0001	a0012c0072t0001g0053 a0012c0072t0001g0053	1	330	0.0030	0	c.229 others(4): Show c.2294A>T	p.Lys others(6): Show p.Lys765Met	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	19/39	2363/4921	2294/4746	765/1581		chr11	TogoVar
ABCC8_chr11_17387885_17481845	17427157	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(102): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18955.hp2 NA18959.hp2 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp1 NA18986.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19067.hp1 NA19068.hp1 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19087.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0007 a0011 a0013	a0001c0001 a0001c0003 a0001c0004 others(22): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0013 a0001c0019 a0001c0034 a0001c0035 a0001c0062 a0002c0002 a0002c0005 a0002c0016 a0002c0045 a0002c0047 a0002c0060 a0002c0064 a0002c0078 a0003c0029 a0003c0036 a0004c0040 a0004c0041 a0007c0039 a0011c0052 a0013c0042	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(23): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0010t0001 a0001c0013t0001 a0001c0019t0001 a0001c0034t0001 a0001c0035t0002 a0001c0062t0001 a0002c0002t0001 a0002c0005t0001 a0002c0016t0001 a0002c0045t0001 a0002c0047t0001 a0002c0060t0001 a0002c0064t0001 a0002c0078t0001 a0003c0029t0001 a0003c0036t0001 a0004c0040t0001 a0004c0041t0001 a0007c0039t0001 a0011c0052t0001 a0013c0042t0001	a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0137 others(102): Show a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0003t0001g0030 a0001c0003t0001g0082 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0100 a0001c0003t0001g0101 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0115 a0001c0003t0001g0118 a0001c0003t0001g0130 a0001c0003t0001g0164 a0001c0003t0001g0282 a0001c0003t0001g0302 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0004t0001g0218 a0001c0004t0001g0250 a0001c0004t0001g0258 a0001c0004t0001g0261 a0001c0004t0001g0266 a0001c0004t0002g0012 a0001c0006t0001g0080 a0001c0006t0001g0083 a0001c0006t0001g0107 a0001c0010t0001g0191 a0001c0010t0001g0192 a0001c0010t0001g0203 a0001c0013t0001g0069 a0001c0013t0001g0175 a0001c0013t0001g0198 a0001c0013t0001g0267 a0001c0013t0001g0314 a0001c0019t0001g0121 a0001c0019t0001g0280 a0001c0019t0001g0284 a0001c0019t0001g0303 a0001c0019t0001g0321 a0001c0034t0001g0176 a0001c0034t0001g0177 a0001c0035t0002g0013 a0001c0062t0001g0260 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0216 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0318 a0002c0005t0001g0110 a0002c0005t0001g0111 a0002c0005t0001g0120 a0002c0005t0001g0122 a0002c0005t0001g0161 a0002c0005t0001g0277 a0002c0005t0001g0283 a0002c0005t0001g0301 a0002c0005t0001g0304 a0002c0016t0001g0305 a0002c0016t0001g0306 a0002c0045t0001g0085 a0002c0047t0001g0112 a0002c0060t0001g0209 a0002c0064t0001g0315 a0002c0078t0001g0299 a0003c0029t0001g0325 a0003c0036t0001g0045 a0004c0040t0001g0113 a0004c0041t0001g0145 a0007c0039t0001g0109 a0011c0052t0001g0281 a0013c0042t0001g0123	105	330	0.3182	0	c.211 others(6): Show c.2117-3C>T		ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	15/38					chr11	TogoVar
ABCC8_chr11_17387885_17481845	17428403	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02258.hp1 HG02818.hp1 HG02258.hp1 HG02818.hp1	a0001 a0001	a0001c0079 a0001c0080 a0001c0079 a0001c0080	a0001c0079t0001 a0001c0080t0001 a0001c0079t0001 a0001c0080t0001	a0001c0079t0001g0016 a0001c0080t0001g0312 a0001c0079t0001g0016 a0001c0080t0001g0312	2	330	0.0061	0	c.192 others(4): Show c.1926C>G	p.Pro others(6): Show p.Pro642Pro	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	14/39	1995/4921	1926/4746	642/1581		chr11	TogoVar
ABCC9_chr12_21792389_21946426	21806064	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02257.hp2 HG02572.hp2 others(8): Show HG01884.hp2 HG02257.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0003t0009 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0009 a0001c0003t0016	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(8): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0207 a0001c0001t0009g0129 a0001c0003t0009g0209 a0001c0003t0016g0173	11	212	0.0519	-1	c.445 others(7): Show c.4450-5delT		ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	38/39					chr12	TogoVar
ABCC9_chr12_21792389_21946426	21910317	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(73): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00738.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03704.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18947.hp2 NA18960.hp1 NA18967.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0002t0012 a0001c0003t0007 a0001c0003t0016 a0001c0005t0001 a0001c0008t0001 a0004c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0032 others(72): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0158 a0001c0001t0004g0127 a0001c0001t0004g0199 a0001c0001t0005g0175 a0001c0001t0006g0142 a0001c0001t0009g0129 a0001c0001t0014g0071 a0001c0001t0015g0170 a0001c0001t0017g0143 a0001c0001t0020g0140 a0001c0002t0012g0002 a0001c0003t0007g0180 a0001c0003t0007g0204 a0001c0003t0016g0173 a0001c0005t0001g0016 a0001c0008t0001g0179 a0004c0011t0001g0149	76	212	0.3585	-1	c.116 others(7): Show c.1165-6delT		ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	9/39					chr12	TogoVar
ABCC9_chr12_21792389_21946426	21915915	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(118): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19065.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0002t0001 a0001c0002t0004 a0001c0002t0023 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0005 a0001c0009t0001 a0001c0010t0001 a0003c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(118): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0043 a0001c0001t0002g0078 a0001c0001t0003g0095 a0001c0001t0003g0105 a0001c0001t0004g0023 a0001c0001t0005g0067 a0001c0001t0006g0027 a0001c0001t0006g0210 a0001c0001t0010g0062 a0001c0001t0010g0064 a0001c0001t0011g0068 a0001c0001t0011g0120 a0001c0001t0013g0092 a0001c0001t0018g0003 a0001c0001t0019g0196 a0001c0001t0021g0122 a0001c0001t0022g0018 a0001c0001t0024g0211 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0004g0183 a0001c0002t0023g0182 a0001c0004t0001g0104 a0001c0004t0001g0119 a0001c0005t0001g0006 a0001c0005t0001g0025 a0001c0006t0001g0042 a0001c0006t0001g0191 a0001c0006t0005g0192 a0001c0009t0001g0101 a0001c0010t0001g0054 a0003c0012t0001g0195	121	212	0.5708	0	c.574 others(5): Show c.574-5C>A		ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	6/39					chr12	TogoVar
ABCD1_chrX_153719856_153749755	153726168	TG TG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0011 a0002c0012t0011	a0002c0012t0011g0025 a0002c0012t0011g0025	1	285	0.0035	-1	c.900 others(6): Show c.900+6delG		ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/9				INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153729221	A A	AC AC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18953.hp1 NA18953.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0059 a0005c0005t0001g0059	1	285	0.0035	1	c.901 others(6): Show c.901-5dupC		ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	1/9				INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD1_chrX_153719856_153749755	153740082	GC GC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00597.hp2 HG02129.hp1 others(10): Show HG00558.hp1 HG00597.hp2 HG02129.hp1 HG02155.hp1 NA18966.hp1 NA18967.hp1 NA18992.hp1 NA19007.hp1 NA19009.hp1 NA19057.hp1 NA19062.hp1 NA19074.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0042	13	285	0.0456	-1	c.148 others(7): Show c.1489-6delC		ABCD1	ENSG00000101986.12	transcript	ENST00000218104.6	protein_coding	5/9				INFO_REALIGN_3_PRIME	chrX	TogoVar
ABCD2_chr12_39545033_39624803	39573708	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	340	0.0029	0	c.200 others(6): Show c.2003+8T>C		ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	9/9					chr12	TogoVar
ABCD2_chr12_39545033_39624803	39616980	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02809.hp2 HG02717.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0206 a0001c0001t0014g0207 a0001c0001t0014g0206 a0001c0001t0014g0207	2	340	0.0059	0	c.112 others(6): Show c.1120+8C>T		ABCD2	ENSG00000173208.4	transcript	ENST00000308666.4	protein_coding	2/9					chr12	TogoVar
ABCD3_chr1_94413389_94523663	94498583	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02717.hp1 HG02922.hp2 others(11): Show HG02109.hp1 HG02717.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0001t0001 a0001c0001t0006 a0001c0001t0027	a0001c0001t0001g0093 a0001c0001t0006g0247 a0001c0001t0006g0248 others(11): Show a0001c0001t0001g0093 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0296 a0001c0001t0006g0297 a0001c0001t0027g0257	14	362	0.0387	-1	c.138 others(7): Show c.1387-4delT		ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	16/22				INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCD4_chr14_74280269_74307934	74286696	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03834.hp1 HG04115.hp1 HG03834.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	384	0.0052	0	c.175 others(6): Show c.1752+5C>T		ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	18/18					chr14	TogoVar
ABCD4_chr14_74280269_74307934	74292545	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02818.hp2 HG06807.hp2 HG02630.hp2 HG02818.hp2 HG06807.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0011 a0007c0007t0011 a0007c0007t0023 a0003c0003t0011 a0007c0007t0011 a0007c0007t0023	a0003c0003t0011g0156 a0007c0007t0011g0049 a0007c0007t0023g0048 a0003c0003t0011g0156 a0007c0007t0011g0049 a0007c0007t0023g0048	3	384	0.0078	0	c.102 others(6): Show c.1028+6G>T		ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	10/18					chr14	TogoVar
ABCD4_chr14_74280269_74307934	74295847	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG01884.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA21309.hp2	a0003 a0004 a0007 a0003 a0004 a0007	a0003c0003 a0004c0005 a0007c0007 a0003c0003 a0004c0005 a0007c0007	a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 others(11): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0011 a0003c0003t0013 a0003c0003t0014 a0003c0003t0015 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0004c0005t0005 a0007c0007t0011 a0007c0007t0023	a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 others(18): Show a0003c0003t0005g0020 a0003c0003t0005g0131 a0003c0003t0005g0132 a0003c0003t0008g0103 a0003c0003t0008g0125 a0003c0003t0008g0127 a0003c0003t0008g0134 a0003c0003t0009g0033 a0003c0003t0009g0098 a0003c0003t0009g0099 a0003c0003t0011g0156 a0003c0003t0013g0136 a0003c0003t0014g0126 a0003c0003t0015g0133 a0003c0003t0016g0100 a0003c0003t0017g0123 a0003c0003t0018g0124 a0003c0003t0019g0128 a0004c0005t0005g0011 a0007c0007t0011g0049 a0007c0007t0023g0048	27	384	0.0703	0	c.668 others(5): Show c.668+7C>T		ABCD4	ENSG00000119688.21	transcript	ENST00000356924.9	protein_coding	6/18					chr14	TogoVar
ABCE1_chr4_145093311_145134524	145110084	AT AT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00558.hp2 HG02451.hp2 others(6): Show HG00558.hp1 HG00558.hp2 HG02451.hp2 HG02647.hp1 HG02735.hp2 HG03471.hp1 HG03654.hp1 HG06807.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0001 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0007g0026 a0001c0001t0009g0123	9	260	0.0346	-1	c.406 others(6): Show c.406-3delT		ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	5/17				INFO_REALIGN_3_PRIME	chr4	TogoVar
ABCE1_chr4_145093311_145134524	145110244	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG03130.hp2 HG02559.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	260	0.0077	0	c.543 others(5): Show c.543+4G>A		ABCE1	ENSG00000164163.11	transcript	ENST00000296577.9	protein_coding	6/17					chr4	TogoVar

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