Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABCA1_chr9_104776006_104933155	104882028	TAAAAAA TAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp2 HG03516.hp1 others(6): Show HG00544.hp1 HG02056.hp2 HG03516.hp1 HG04204.hp1 NA18941.hp2 NA18964.hp1 NA18967.hp2 NA18990.hp1 NA19009.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0012 a0013 a0014	a0001c0001 a0003c0002 a0004c0099 others(6): Show a0001c0001 a0003c0002 a0004c0099 a0005c0026 a0006c0004 a0012c0040 a0013c0013 a0014c0053 a0014c0054	a0001c0001t0006 a0003c0002t0002 a0004c0099t0001 others(6): Show a0001c0001t0006 a0003c0002t0002 a0004c0099t0001 a0005c0026t0004 a0006c0004t0010 a0012c0040t0029 a0013c0013t0002 a0014c0053t0002 a0014c0054t0010	a0001c0001t0006g0214 a0003c0002t0002g0205 a0004c0099t0001g0110 others(6): Show a0001c0001t0006g0214 a0003c0002t0002g0205 a0004c0099t0001g0110 a0005c0026t0004g0042 a0006c0004t0010g0252 a0012c0040t0029g0001 a0013c0013t0002g0262 a0014c0053t0002g0146 a0014c0054t0010g0251	9	318	0.0283	-6	c.421 others(23): Show c.421+1005_421+1010delTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104896711	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02630.hp2 others(3): Show HG02257.hp1 HG02451.hp1 HG02630.hp2 HG02970.hp1 HG03139.hp2 NA20129.hp2	a0004 a0008 a0029 others(1): Show a0004 a0008 a0029 a0038	a0004c0042 a0004c0044 a0004c0107 others(3): Show a0004c0042 a0004c0044 a0004c0107 a0008c0006 a0029c0110 a0038c0068	a0004c0042t0008 a0004c0044t0007 a0004c0107t0002 others(3): Show a0004c0042t0008 a0004c0044t0007 a0004c0107t0002 a0008c0006t0015 a0029c0110t0002 a0038c0068t0044	a0004c0042t0008g0083 a0004c0044t0007g0302 a0004c0107t0002g0236 others(3): Show a0004c0042t0008g0083 a0004c0044t0007g0302 a0004c0107t0002g0236 a0008c0006t0015g0095 a0029c0110t0002g0165 a0038c0068t0044g0272	6	318	0.0189	-6	c.66+ others(21): Show c.66+6897_66+6902delAAAAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909607	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01175.hp2 others(30): Show HG00642.hp1 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02572.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 NA18906.hp1 NA18949.hp2 NA18962.hp1 NA18982.hp2 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA19007.hp2 NA19043.hp2 NA19080.hp2 NA19088.hp2 NA19090.hp2 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012 a0016 a0028 a0031	a0001c0001 a0001c0035 a0001c0092 others(20): Show a0001c0001 a0001c0035 a0001c0092 a0002c0015 a0002c0057 a0003c0009 a0004c0029 a0004c0044 a0004c0064 a0004c0099 a0004c0112 a0005c0014 a0005c0016 a0005c0022 a0005c0036 a0008c0006 a0008c0048 a0010c0030 a0011c0010 a0012c0102 a0016c0019 a0028c0095 a0031c0067	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(26): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0035t0004 a0001c0092t0012 a0002c0015t0013 a0002c0057t0001 a0003c0009t0003 a0003c0009t0046 a0004c0029t0005 a0004c0044t0013 a0004c0064t0007 a0004c0099t0001 a0004c0112t0005 a0005c0014t0011 a0005c0016t0001 a0005c0022t0002 a0005c0022t0021 a0005c0036t0001 a0008c0006t0003 a0008c0006t0014 a0008c0006t0022 a0008c0048t0030 a0010c0030t0001 a0011c0010t0005 a0012c0102t0007 a0016c0019t0006 a0028c0095t0002 a0031c0067t0006	a0001c0001t0004g0193 a0001c0001t0006g0225 a0001c0001t0012g0039 others(30): Show a0001c0001t0004g0193 a0001c0001t0006g0225 a0001c0001t0012g0039 a0001c0035t0004g0011 a0001c0092t0012g0220 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0057t0001g0148 a0003c0009t0003g0178 a0003c0009t0046g0219 a0004c0029t0005g0162 a0004c0044t0013g0280 a0004c0064t0007g0175 a0004c0099t0001g0110 a0004c0112t0005g0098 a0005c0014t0011g0222 a0005c0016t0001g0009 a0005c0016t0001g0010 a0005c0022t0002g0284 a0005c0022t0021g0141 a0005c0022t0021g0147 a0005c0036t0001g0091 a0005c0036t0001g0273 a0008c0006t0003g0187 a0008c0006t0014g0221 a0008c0006t0022g0135 a0008c0048t0030g0022 a0010c0030t0001g0053 a0011c0010t0005g0097 a0012c0102t0007g0188 a0016c0019t0006g0250 a0028c0095t0002g0114 a0031c0067t0006g0223	33	318	0.1038	-6	c.-92 others(23): Show c.-92-5842_-92-5837delGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA2_chr9_137002234_137033237	137027915	AGGGCAG AGGGCAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01074.hp2 others(35): Show HG00558.hp2 HG00741.hp1 HG01074.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18974.hp2 NA18986.hp1 NA19005.hp2 NA19030.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0009 a0017 a0001 a0009 a0017	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0020 a0001c0058 a0009c0032 a0017c0057	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0003t0001 a0001c0020t0003 a0001c0058t0003 a0009c0032t0001 a0017c0057t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0042 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0002t0003g0043 a0001c0003t0001g0041 a0001c0020t0003g0045 a0001c0058t0003g0197 a0009c0032t0001g0193 a0017c0057t0001g0196	38	320	0.1188	-6	c.66+ others(19): Show c.66+154_66+159delCTGCCC	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	1/48			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2289961	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01978.hp2 HG04184.hp1 others(1): Show HG00609.hp1 HG01978.hp2 HG04184.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0015	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0004c0015t0001	a0001c0001t0001g0094 a0001c0002t0001g0050 a0001c0004t0001g0040 others(1): Show a0001c0001t0001g0094 a0001c0002t0001g0050 a0001c0004t0001g0040 a0004c0015t0001g0186	4	252	0.0159	-6	c.251 others(23): Show c.2514-347_2514-342delTGTGTG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	19/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2298617	CCTCTCT CCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 NA19043.hp2 others(1): Show HG02486.hp2 HG02717.hp1 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0014 a0001c0002t0001 a0001c0006t0001	a0001c0001t0004g0008 a0001c0001t0014g0249 a0001c0002t0001g0187 others(1): Show a0001c0001t0004g0008 a0001c0001t0014g0249 a0001c0002t0001g0187 a0001c0006t0001g0165	4	252	0.0159	-6	c.174 others(21): Show c.1742-83_1742-78delAGAGAG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	14/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	94079249	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02257.hp1 HG02486.hp2 others(2): Show HG01928.hp1 HG02257.hp1 HG02486.hp2 HG02818.hp1 NA18906.hp1	a0019 a0022 a0024 others(2): Show a0019 a0022 a0024 a0025 a0026	a0019c0090 a0022c0105 a0024c0102 others(2): Show a0019c0090 a0022c0105 a0024c0102 a0025c0101 a0026c0100	a0019c0090t0003 a0022c0105t0001 a0024c0102t0001 others(2): Show a0019c0090t0003 a0022c0105t0001 a0024c0102t0001 a0025c0101t0001 a0026c0100t0001	a0019c0090t0003g0047 a0022c0105t0001g0124 a0024c0102t0001g0015 others(2): Show a0019c0090t0003g0047 a0022c0105t0001g0124 a0024c0102t0001g0015 a0025c0101t0001g0014 a0026c0100t0001g0288	5	306	0.0163	-6	c.123 others(21): Show c.1239+67_1239+72delTGTGTG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	9/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94081226	AAACAAC AAACAAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02559.hp1 others(6): Show HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02922.hp1 HG03225.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA21309.hp1	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0007 a0042 a0047	a0001c0001 a0001c0004 a0004c0039 others(4): Show a0001c0001 a0001c0004 a0004c0039 a0006c0053 a0007c0026 a0042c0092 a0047c0103	a0001c0001t0001 a0001c0004t0001 a0004c0039t0001 others(4): Show a0001c0001t0001 a0001c0004t0001 a0004c0039t0001 a0006c0053t0001 a0007c0026t0001 a0042c0092t0004 a0047c0103t0001	a0001c0001t0001g0271 a0001c0004t0001g0193 a0001c0004t0001g0236 others(6): Show a0001c0001t0001g0271 a0001c0004t0001g0193 a0001c0004t0001g0236 a0004c0039t0001g0118 a0006c0053t0001g0296 a0007c0026t0001g0299 a0007c0026t0001g0300 a0042c0092t0004g0006 a0047c0103t0001g0050	9	306	0.0294	-6	c.859 others(21): Show c.859-514_859-509delGTTGTT	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	7/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94091579	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01884.hp1 others(22): Show HG00280.hp1 HG00558.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG02080.hp1 HG02559.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG04115.hp1 HG04228.hp1 NA18985.hp2 NA18986.hp1 NA18991.hp2 NA19011.hp1 NA19055.hp2 NA19240.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0010 a0016 a0019 a0021 a0025 a0026 a0029 a0032 a0035 a0042	a0001c0001 a0001c0003 a0001c0006 others(15): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0003c0020 a0003c0082 a0005c0037 a0010c0023 a0016c0019 a0019c0089 a0021c0104 a0025c0101 a0026c0100 a0029c0056 a0032c0060 a0035c0063 a0042c0092	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(15): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0002c0002t0001 a0003c0020t0001 a0003c0082t0002 a0005c0037t0001 a0010c0023t0001 a0016c0019t0001 a0019c0089t0001 a0021c0104t0001 a0025c0101t0001 a0026c0100t0001 a0029c0056t0003 a0032c0060t0001 a0035c0063t0001 a0042c0092t0004	a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0105 others(22): Show a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0003t0001g0289 a0001c0006t0001g0154 a0001c0007t0001g0292 a0002c0002t0001g0093 a0003c0020t0001g0119 a0003c0082t0002g0215 a0005c0037t0001g0051 a0010c0023t0001g0212 a0016c0019t0001g0164 a0019c0089t0001g0297 a0021c0104t0001g0129 a0025c0101t0001g0014 a0026c0100t0001g0288 a0029c0056t0003g0140 a0032c0060t0001g0011 a0035c0063t0001g0033 a0042c0092t0004g0006	25	306	0.0817	-6	c.768 others(23): Show c.768+7209_768+7214delTGTGTG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116962	TTCTTTC TTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01071.hp2 others(5): Show HG00642.hp2 HG00733.hp1 HG01071.hp2 HG01361.hp1 HG01516.hp1 HG01978.hp1 NA19065.hp2 NA19066.hp2	a0001 a0002 a0020 others(2): Show a0001 a0002 a0020 a0049 a0050	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0020c0030 a0049c0106 a0050c0109	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0020c0030t0001 a0049c0106t0001 a0050c0109t0001	a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0003t0001g0229 others(5): Show a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0003t0001g0229 a0001c0005t0001g0231 a0002c0002t0001g0210 a0020c0030t0001g0261 a0049c0106t0001g0205 a0050c0109t0001g0262	8	306	0.0261	-6	c.67- others(21): Show c.67-3902_67-3897delGAAAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94124143	TTTTTTG TTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG00738.hp2 others(5): Show HG00099.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01433.hp2 HG01978.hp2 HG03704.hp2 NA20905.hp2	a0001 a0011 a0015 a0001 a0011 a0015	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0011c0073 a0015c0022	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0011c0073t0001 a0015c0022t0001	a0001c0001t0001g0213 a0001c0001t0001g0238 a0001c0001t0001g0242 others(5): Show a0001c0001t0001g0213 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0260 a0001c0003t0001g0248 a0001c0005t0001g0259 a0011c0073t0001g0269 a0015c0022t0001g0267	8	306	0.0261	-6	c.-31 others(17): Show c.-3104_-3099delCAAAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding		2996		chr1	TogoVar
ABCA5_chr17_69239311_69332133	69274839	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show HG01069.hp2 HG01071.hp2 HG01106.hp1 HG02647.hp2 HG02717.hp2 HG03209.hp1 HG03471.hp1 NA20129.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0339 a0005c0007t0006g0340 a0005c0007t0006g0341 others(5): Show a0005c0007t0006g0339 a0005c0007t0006g0340 a0005c0007t0006g0341 a0005c0007t0006g0342 a0005c0007t0006g0343 a0005c0007t0006g0344 a0005c0007t0006g0345 a0005c0007t0006g0346	8	350	0.0229	-6	c.259 others(23): Show c.2595-717_2595-712delAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	19/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293867	TGTGTGC TGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp1 HG03017.hp1 others(7): Show HG01261.hp1 HG01516.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG03710.hp2 HG04184.hp1 NA18522.hp1 NA18945.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0008t0019 a0001c0002t0001 a0001c0008t0001 a0001c0008t0019	a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0067 others(7): Show a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0127 a0001c0002t0001g0146 a0001c0002t0001g0156 a0001c0008t0001g0080 a0001c0008t0019g0082	10	350	0.0286	-6	c.149 others(23): Show c.1495+782_1495+787delGCACAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69082328	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02559.hp1 HG02647.hp2 others(5): Show HG01069.hp2 HG02559.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp1 HG02965.hp2 HG02970.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0089 a0001c0001t0001g0090 others(5): Show a0001c0001t0001g0045 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0109 a0003c0003t0001g0273	8	326	0.0245	-6	c.461 others(23): Show c.4616+539_4616+544delGTGTGT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	36/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01928.hp1 HG02109.hp2 others(9): Show HG01346.hp1 HG01928.hp1 HG02109.hp2 HG02257.hp1 HG02723.hp1 HG03130.hp1 HG03486.hp1 NA18962.hp2 NA19066.hp2 NA19070.hp2 NA19087.hp1 NA21309.hp2	a0002 a0007 a0017 a0002 a0007 a0017	a0002c0002 a0007c0006 a0017c0022 a0002c0002 a0007c0006 a0017c0022	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0007c0006t0001 a0007c0006t0002 a0017c0022t0001	a0002c0002t0001g0227 a0002c0002t0002g0228 a0002c0002t0002g0239 others(9): Show a0002c0002t0001g0227 a0002c0002t0002g0228 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0003g0231 a0007c0006t0001g0059 a0007c0006t0001g0087 a0007c0006t0001g0088 a0007c0006t0001g0104 a0007c0006t0001g0105 a0007c0006t0002g0099 a0017c0022t0001g0275	12	326	0.0368	-6	c.393 others(23): Show c.3937+126_3937+131delATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68904291	AAATAAT AAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02145.hp1 HG02895.hp2 HG01069.hp2 HG02145.hp1 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0050 a0001c0002t0001g0088 a0001c0002t0001g0004 a0001c0002t0001g0050 a0001c0002t0001g0088	3	274	0.0110	-6	c.239 others(23): Show c.2399-798_2399-793delATTATT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	19/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68911734	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02071.hp2 others(21): Show HG01516.hp2 HG01517.hp1 HG02071.hp2 HG02165.hp2 HG02523.hp1 HG03041.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18968.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18987.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0042 a0002c0034 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0042t0001 a0002c0034t0001 a0003c0007t0001	a0001c0001t0001g0155 a0001c0001t0001g0219 a0001c0002t0001g0242 others(21): Show a0001c0001t0001g0155 a0001c0001t0001g0219 a0001c0002t0001g0242 a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0075 a0001c0003t0001g0085 a0001c0003t0001g0087 a0001c0004t0001g0195 a0001c0004t0001g0210 a0001c0042t0001g0130 a0002c0034t0001g0006 a0003c0007t0001g0059 a0003c0007t0001g0252	24	274	0.0876	-6	c.213 others(25): Show c.2139-3861_2139-3856delGTGTGT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	17/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68919108	ATTAGAT ATTAGAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG02602.hp2 others(10): Show HG00639.hp2 HG01884.hp2 HG02602.hp2 HG02698.hp2 HG02895.hp1 HG02896.hp2 HG03017.hp2 HG03490.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0023 a0022c0020	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0023t0001 a0022c0020t0001	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 others(10): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0268 a0001c0002t0001g0184 a0001c0004t0001g0048 a0001c0005t0001g0142 a0001c0005t0001g0143 a0001c0005t0001g0149 a0001c0005t0001g0150 a0001c0005t0001g0151 a0001c0023t0001g0269 a0022c0020t0001g0145	13	274	0.0475	-6	c.178 others(23): Show c.1788+187_1788+192delATCTAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	14/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02976.hp1 others(7): Show HG02486.hp1 HG02622.hp1 HG02976.hp1 HG03491.hp1 NA18522.hp1 NA18906.hp1 NA19004.hp1 NA19030.hp2 NA19083.hp2 NA19240.hp2	a0001 a0004 a0009 others(2): Show a0001 a0004 a0009 a0015 a0022	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0035 a0004c0008 a0009c0025 a0015c0015 a0022c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0035t0001 a0004c0008t0001 a0009c0025t0001 a0015c0015t0001 a0022c0020t0001	a0001c0001t0001g0041 a0001c0001t0001g0180 a0001c0002t0001g0127 others(7): Show a0001c0001t0001g0041 a0001c0001t0001g0180 a0001c0002t0001g0127 a0001c0003t0001g0064 a0001c0005t0001g0146 a0001c0035t0001g0067 a0004c0008t0001g0125 a0009c0025t0001g0102 a0015c0015t0001g0012 a0022c0020t0001g0145	10	274	0.0365	-6	c.150 others(21): Show c.1501+42_1501+47delAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68937848	CATTATT CATTATT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 HG02145.hp2 others(16): Show HG01346.hp1 HG01884.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1	a0004 a0005 a0009 others(3): Show a0004 a0005 a0009 a0029 a0030 a0031	a0004c0008 a0004c0026 a0004c0029 others(7): Show a0004c0008 a0004c0026 a0004c0029 a0005c0009 a0009c0025 a0009c0031 a0009c0032 a0029c0028 a0030c0030 a0031c0027	a0004c0008t0001 a0004c0026t0001 a0004c0029t0001 others(7): Show a0004c0008t0001 a0004c0026t0001 a0004c0029t0001 a0005c0009t0001 a0009c0025t0001 a0009c0031t0001 a0009c0032t0005 a0029c0028t0001 a0030c0030t0001 a0031c0027t0001	a0004c0008t0001g0104 a0004c0008t0001g0110 a0004c0008t0001g0115 others(16): Show a0004c0008t0001g0104 a0004c0008t0001g0110 a0004c0008t0001g0115 a0004c0008t0001g0125 a0004c0008t0001g0126 a0004c0026t0001g0114 a0004c0029t0001g0105 a0005c0009t0001g0106 a0005c0009t0001g0108 a0005c0009t0001g0109 a0005c0009t0001g0111 a0005c0009t0001g0112 a0005c0009t0001g0116 a0009c0025t0001g0102 a0009c0031t0001g0096 a0009c0032t0005g0095 a0029c0028t0001g0113 a0030c0030t0001g0103 a0031c0027t0001g0107	19	274	0.0693	-6	c.302 others(21): Show c.302-739_302-734delAATAAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	4/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944316	TTATATA TTATATA	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02486.hp1 HG01978.hp1 HG02486.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0015 a0001c0001 a0015c0015	a0001c0001t0001 a0015c0015t0001 a0001c0001t0001 a0015c0015t0001	a0001c0001t0001g0042 a0015c0015t0001g0012 a0001c0001t0001g0042 a0015c0015t0001g0012	2	274	0.0073	-6	c.-5- others(21): Show c.-5-2283_-5-2278delTATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar
ABCA9_chr17_68969488_69065927	68971484	AGTGTGT AGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00733.hp2 others(46): Show HG00280.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01517.hp2 HG01891.hp1 HG01978.hp2 HG02074.hp1 HG02145.hp2 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03139.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18946.hp1 NA18957.hp2 NA18962.hp2 NA18982.hp1 NA18987.hp2 NA18990.hp1 NA19004.hp2 NA19011.hp2 NA19058.hp1 NA19083.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0007 a0001c0021 others(6): Show a0001c0001 a0001c0007 a0001c0021 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0006 a0006c0010	a0001c0001t0001 a0001c0007t0001 a0001c0021t0003 others(9): Show a0001c0001t0001 a0001c0007t0001 a0001c0021t0003 a0002c0002t0002 a0002c0004t0002 a0003c0003t0001 a0003c0003t0003 a0003c0003t0010 a0003c0003t0013 a0004c0005t0003 a0005c0006t0001 a0006c0010t0002	a0001c0001t0001g0061 a0001c0001t0001g0174 a0001c0001t0001g0177 others(46): Show a0001c0001t0001g0061 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0007t0001g0161 a0001c0021t0003g0015 a0002c0002t0002g0059 a0002c0002t0002g0066 a0002c0002t0002g0086 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0098 a0002c0002t0002g0101 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0118 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0149 a0002c0002t0002g0224 a0002c0002t0002g0260 a0002c0004t0002g0197 a0002c0004t0002g0212 a0002c0004t0002g0247 a0002c0004t0002g0262 a0003c0003t0001g0028 a0003c0003t0003g0040 a0003c0003t0010g0030 a0003c0003t0013g0022 a0004c0005t0003g0285 a0004c0005t0003g0286 a0004c0005t0003g0289 a0005c0006t0001g0275 a0006c0010t0002g0155	49	312	0.1571	-6	c.44 others(17): Show c.4425_*4430delACACAC	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding		3003		chr17	TogoVar
ABCA9_chr17_68969488_69065927	68989256	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02717.hp2 others(13): Show HG01884.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0019	a0001c0007 a0003c0003 a0009c0011 others(1): Show a0001c0007 a0003c0003 a0009c0011 a0019c0023	a0001c0007t0004 a0003c0003t0004 a0003c0003t0013 others(2): Show a0001c0007t0004 a0003c0003t0004 a0003c0003t0013 a0009c0011t0003 a0019c0023t0003	a0001c0007t0004g0093 a0003c0003t0004g0003 a0003c0003t0004g0017 others(12): Show a0001c0007t0004g0093 a0003c0003t0004g0003 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0019 a0003c0003t0004g0020 a0003c0003t0004g0021 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0013g0022 a0009c0011t0003g0046 a0009c0011t0003g0047 a0019c0023t0003g0013	16	312	0.0513	-6	c.395 others(23): Show c.3956-144_3956-139delTGTGTG	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	30/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69015969	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG02145.hp1 others(16): Show HG01109.hp2 HG01346.hp1 HG02145.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG06807.hp2 NA20300.hp2	a0004 a0011 a0012 a0004 a0011 a0012	a0004c0005 a0011c0015 a0012c0014 a0004c0005 a0011c0015 a0012c0014	a0004c0005t0003 a0011c0015t0003 a0012c0014t0003 a0004c0005t0003 a0011c0015t0003 a0012c0014t0003	a0004c0005t0003g0001 a0004c0005t0003g0268 a0004c0005t0003g0269 others(12): Show a0004c0005t0003g0001 a0004c0005t0003g0268 a0004c0005t0003g0269 a0004c0005t0003g0271 a0004c0005t0003g0272 a0004c0005t0003g0274 a0004c0005t0003g0285 a0004c0005t0003g0286 a0004c0005t0003g0287 a0004c0005t0003g0288 a0004c0005t0003g0289 a0004c0005t0003g0290 a0004c0005t0003g0291 a0011c0015t0003g0049 a0012c0014t0003g0048	19	312	0.0609	-6	c.303 others(23): Show c.3039+278_3039+283delCACACA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	22/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69016119	TATATAC TATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG04115.hp2 others(5): Show HG00140.hp1 HG00544.hp1 HG04115.hp2 NA18954.hp1 NA19060.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0007 a0002c0002 a0014c0031 a0001c0007 a0002c0002 a0014c0031	a0001c0007t0001 a0002c0002t0002 a0014c0031t0002 a0001c0007t0001 a0002c0002t0002 a0014c0031t0002	a0001c0007t0001g0161 a0002c0002t0002g0005 a0002c0002t0002g0078 others(4): Show a0001c0007t0001g0161 a0002c0002t0002g0005 a0002c0002t0002g0078 a0002c0002t0002g0095 a0002c0002t0002g0159 a0002c0002t0002g0160 a0014c0031t0002g0236	8	312	0.0256	-6	c.303 others(23): Show c.3039+128_3039+133delGTATAT	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	22/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69046875	CTATATA CTATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp1 HG02738.hp1 others(6): Show HG00639.hp2 HG02717.hp1 HG02738.hp1 HG03486.hp2 NA18946.hp1 NA18954.hp2 NA18987.hp2 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0004 others(1): Show a0001c0001 a0001c0008 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0008t0001 a0002c0004t0002 others(1): Show a0001c0001t0001 a0001c0008t0001 a0002c0004t0002 a0003c0003t0003	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(6): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0198 a0001c0008t0001g0196 a0002c0004t0002g0197 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036	9	312	0.0289	-6	c.305 others(23): Show c.305-1545_305-1540delTATATA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	3/38			chr17	TogoVar
ABCA9_chr17_68969488_69065927	69050343	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01978.hp2 HG02040.hp1 others(6): Show HG01175.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02280.hp1 HG02572.hp1 HG03471.hp1 NA19074.hp1 NA19080.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0006 a0006c0010t0002 a0001c0001t0001 a0001c0001t0006 a0006c0010t0002	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 others(6): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0006c0010t0002g0155	9	312	0.0289	-6	c.96+ others(19): Show c.96+682_96+687delGTGTGT	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	2/38			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229535038	TAAAAAA TAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02647.hp1 HG02809.hp1 others(7): Show HG02004.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0016 a0001c0002 a0001c0012 a0001c0016	a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0001c0016t0001	a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 others(7): Show a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0054 a0001c0002t0002g0097 a0001c0012t0001g0039 a0001c0016t0001g0273	10	284	0.0352	-6	c.134 others(25): Show c.1340-3313_1340-3308delTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	6/12			chr1	TogoVar
ABCB11_chr2_168915781_169036324	168921846	CTTTTCT CTTTTCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG02486.hp2 HG02976.hp2 others(5): Show HG01074.hp1 HG02486.hp2 HG02976.hp2 HG03209.hp2 HG06807.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0016 a0001c0039 a0002c0020 others(3): Show a0001c0016 a0001c0039 a0002c0020 a0002c0025 a0002c0033 a0002c0052	a0001c0016t0008 a0001c0016t0033 a0001c0039t0008 others(5): Show a0001c0016t0008 a0001c0016t0033 a0001c0039t0008 a0002c0020t0008 a0002c0020t0037 a0002c0025t0008 a0002c0033t0008 a0002c0052t0026	a0001c0016t0008g0295 a0001c0016t0033g0294 a0001c0039t0008g0301 others(5): Show a0001c0016t0008g0295 a0001c0016t0033g0294 a0001c0039t0008g0301 a0002c0020t0008g0233 a0002c0020t0037g0026 a0002c0025t0008g0225 a0002c0033t0008g0102 a0002c0052t0026g0219	8	306	0.0261	-6	c.17 others(17): Show c.1770_*1775delAGAAAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	28/28	1770		chr2	TogoVar
ABCB11_chr2_168915781_169036324	169016979	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01069.hp1 others(14): Show HG00323.hp2 HG00733.hp2 HG01069.hp1 HG01071.hp2 HG01169.hp2 HG02055.hp1 HG02486.hp1 HG02572.hp2 HG02683.hp2 HG02809.hp2 HG03139.hp2 HG03486.hp2 HG06807.hp2 NA19002.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0016	a0001c0001 a0002c0003 a0002c0004 others(8): Show a0001c0001 a0002c0003 a0002c0004 a0002c0027 a0002c0028 a0002c0055 a0003c0050 a0004c0009 a0004c0023 a0004c0058 a0016c0057	a0001c0001t0001 a0002c0003t0001 a0002c0004t0004 others(11): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0004 a0002c0027t0006 a0002c0028t0001 a0002c0055t0018 a0003c0050t0009 a0004c0009t0004 a0004c0009t0005 a0004c0009t0007 a0004c0009t0022 a0004c0023t0001 a0004c0058t0001 a0016c0057t0016	a0001c0001t0001g0246 a0002c0003t0001g0001 a0002c0003t0001g0029 others(13): Show a0001c0001t0001g0246 a0002c0003t0001g0001 a0002c0003t0001g0029 a0002c0004t0004g0038 a0002c0027t0006g0222 a0002c0028t0001g0221 a0002c0055t0018g0099 a0003c0050t0009g0100 a0004c0009t0004g0101 a0004c0009t0005g0095 a0004c0009t0007g0094 a0004c0009t0022g0092 a0004c0023t0001g0096 a0004c0023t0001g0097 a0004c0058t0001g0098 a0016c0057t0016g0093	17	306	0.0556	-6	c.77- others(19): Show c.77-186_77-181delGTGTGT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	2/27			chr2	TogoVar
ABCB1_chr7_87498017_87605884	87592859	CCTAAGA CCTAAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01071.hp1 others(10): Show HG00280.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01433.hp1 HG03017.hp2 HG03491.hp2 HG03704.hp1 HG04184.hp1 HG04228.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0010 a0001c0001 a0001c0005 a0002c0010	a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0005t0003 a0001c0005t0005 a0002c0010t0003	a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0027 others(8): Show a0001c0001t0003g0001 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0010g0026 a0001c0001t0015g0028 a0001c0005t0003g0002 a0001c0005t0005g0025 a0002c0010t0003g0030	13	352	0.0369	-6	c.117 others(23): Show c.117+2901_117+2906delTCTTAG	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	3/27			chr7	TogoVar
ABCB4_chr7_87396696_87480680	87463246	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(114): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00735.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0008	a0001c0002 a0001c0006 a0001c0007 others(13): Show a0001c0002 a0001c0006 a0001c0007 a0001c0019 a0001c0026 a0001c0029 a0002c0004 a0002c0005 a0002c0021 a0002c0023 a0002c0024 a0002c0027 a0003c0011 a0004c0013 a0006c0028 a0008c0025	a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 others(13): Show a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0019t0001 a0001c0026t0001 a0001c0029t0001 a0002c0004t0001 a0002c0005t0001 a0002c0021t0001 a0002c0023t0001 a0002c0024t0001 a0002c0027t0001 a0003c0011t0001 a0004c0013t0001 a0006c0028t0001 a0008c0025t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0010 others(99): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0006t0001g0242 a0001c0007t0001g0034 a0001c0007t0001g0037 a0001c0007t0001g0047 a0001c0007t0001g0048 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0019t0001g0023 a0001c0026t0001g0082 a0001c0029t0001g0115 a0002c0004t0001g0003 a0002c0004t0001g0008 a0002c0004t0001g0009 a0002c0004t0001g0038 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0095 a0002c0004t0001g0105 a0002c0004t0001g0253 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0005t0001g0042 a0002c0005t0001g0046 a0002c0005t0001g0051 a0002c0005t0001g0052 a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0001g0055 a0002c0005t0001g0056 a0002c0005t0001g0168 a0002c0005t0001g0169 a0002c0021t0001g0107 a0002c0023t0001g0250 a0002c0024t0001g0039 a0002c0027t0001g0256 a0003c0011t0001g0111 a0003c0011t0001g0112 a0003c0011t0001g0113 a0003c0011t0001g0114 a0004c0013t0001g0100 a0004c0013t0001g0101 a0006c0028t0001g0068 a0008c0025t0001g0091	117	290	0.4035	-6	c.136 others(21): Show c.136-344_136-339delGTGTGT	ABCB4	ENSG00000005471.19	transcript	ENST00000649586.2	protein_coding	3/27			chr7	TogoVar
ABCB5_chr7_20610667_20762008	20615582	CGTGTGT CGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03831.hp2 NA18612.hp1 others(13): Show HG03225.hp2 HG03831.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18946.hp2 NA18964.hp1 NA18965.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18989.hp2 NA19078.hp2 NA19079.hp2 NA19090.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0020 a0051	a0001c0001 a0001c0005 a0004c0008 others(4): Show a0001c0001 a0001c0005 a0004c0008 a0005c0006 a0020c0075 a0020c0076 a0051c0045	a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0010 a0001c0005t0001 a0004c0008t0001 a0005c0006t0001 a0020c0075t0001 a0020c0076t0001 a0051c0045t0004	a0001c0001t0001g0183 a0001c0001t0001g0257 a0001c0001t0001g0265 others(13): Show a0001c0001t0001g0183 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0277 a0001c0001t0001g0287 a0001c0001t0001g0302 a0001c0001t0010g0332 a0001c0005t0001g0266 a0001c0005t0001g0270 a0001c0005t0001g0271 a0004c0008t0001g0139 a0004c0008t0001g0274 a0005c0006t0001g0249 a0020c0075t0001g0357 a0020c0076t0001g0269 a0051c0045t0004g0062	16	360	0.0444	-6	c.-27 others(15): Show c.-276_-271delGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding		84		chr7	TogoVar
ABCB5_chr7_20610667_20762008	20626854	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01515.hp1 others(7): Show HG00280.hp1 HG01069.hp2 HG01515.hp1 HG01952.hp2 HG02257.hp2 HG02486.hp1 HG03041.hp1 HG03041.hp2 HG06807.hp1 HG06807.hp2	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0018 a0019 a0024 a0029 a0030	a0001c0001 a0001c0005 a0002c0012 others(6): Show a0001c0001 a0001c0005 a0002c0012 a0007c0016 a0018c0072 a0019c0071 a0024c0073 a0029c0039 a0030c0038	a0001c0001t0001 a0001c0005t0001 a0002c0012t0001 others(7): Show a0001c0001t0001 a0001c0005t0001 a0002c0012t0001 a0007c0016t0006 a0018c0072t0013 a0019c0071t0001 a0024c0073t0017 a0029c0039t0001 a0030c0038t0016 a0030c0038t0020	a0001c0001t0001g0054 a0001c0005t0001g0355 a0002c0012t0001g0359 others(7): Show a0001c0001t0001g0054 a0001c0005t0001g0355 a0002c0012t0001g0359 a0007c0016t0006g0057 a0018c0072t0013g0056 a0019c0071t0001g0358 a0024c0073t0017g0055 a0029c0039t0001g0353 a0030c0038t0016g0352 a0030c0038t0020g0354	10	360	0.0278	-6	c.108 others(21): Show c.108+276_108+281delGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20629145	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp2 NA18939.hp2 others(1): Show HG03139.hp1 HG03486.hp2 NA18939.hp2 NA19012.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0002c0014 a0002c0041 others(1): Show a0002c0003 a0002c0014 a0002c0041 a0010c0042	a0002c0003t0003 a0002c0014t0001 a0002c0041t0001 others(1): Show a0002c0003t0003 a0002c0014t0001 a0002c0041t0001 a0010c0042t0004	a0002c0003t0003g0001 a0002c0014t0001g0234 a0002c0041t0001g0119 others(1): Show a0002c0003t0003g0001 a0002c0014t0001g0234 a0002c0041t0001g0119 a0010c0042t0004g0120	4	360	0.0111	-6	c.259 others(21): Show c.259+342_259+347delGTGTGT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20655085	AAGAGAG AAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00673.hp1 others(60): Show HG00323.hp2 HG00597.hp2 HG00673.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02074.hp1 HG02109.hp1 HG02155.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03942.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp2 NA18998.hp2 NA19002.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19067.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA20129.hp2	a0002 a0007 a0010 others(8): Show a0002 a0007 a0010 a0011 a0019 a0021 a0022 a0037 a0039 a0047 a0053	a0002c0003 a0002c0012 a0002c0014 others(18): Show a0002c0003 a0002c0012 a0002c0014 a0002c0035 a0002c0041 a0007c0011 a0007c0016 a0007c0032 a0007c0070 a0010c0026 a0010c0031 a0010c0042 a0011c0017 a0011c0025 a0019c0036 a0021c0033 a0022c0089 a0037c0102 a0039c0058 a0047c0059 a0053c0090	a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 others(27): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0007 a0002c0003t0009 a0002c0003t0011 a0002c0012t0001 a0002c0014t0001 a0002c0014t0003 a0002c0035t0001 a0002c0041t0001 a0007c0011t0004 a0007c0016t0001 a0007c0016t0003 a0007c0032t0003 a0007c0070t0009 a0010c0026t0004 a0010c0031t0009 a0010c0042t0004 a0011c0017t0003 a0011c0017t0007 a0011c0025t0001 a0011c0025t0003 a0011c0025t0007 a0019c0036t0001 a0021c0033t0003 a0022c0089t0004 a0037c0102t0023 a0039c0058t0001 a0047c0059t0003 a0053c0090t0004	a0002c0003t0001g0349 a0002c0003t0003g0001 a0002c0003t0003g0005 others(60): Show a0002c0003t0001g0349 a0002c0003t0003g0001 a0002c0003t0003g0005 a0002c0003t0003g0014 a0002c0003t0003g0016 a0002c0003t0003g0018 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0044 a0002c0003t0003g0045 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0007g0033 a0002c0003t0009g0008 a0002c0003t0011g0013 a0002c0012t0001g0121 a0002c0014t0001g0234 a0002c0014t0001g0235 a0002c0014t0003g0002 a0002c0014t0003g0049 a0002c0035t0001g0070 a0002c0041t0001g0119 a0007c0011t0004g0124 a0007c0016t0001g0115 a0007c0016t0003g0010 a0007c0016t0003g0051 a0007c0032t0003g0019 a0007c0032t0003g0020 a0007c0070t0009g0009 a0010c0026t0004g0126 a0010c0031t0009g0006 a0010c0042t0004g0120 a0011c0017t0003g0004 a0011c0017t0003g0050 a0011c0017t0007g0042 a0011c0017t0007g0052 a0011c0025t0001g0094 a0011c0025t0003g0017 a0011c0025t0007g0024 a0019c0036t0001g0071 a0021c0033t0003g0037 a0021c0033t0003g0038 a0022c0089t0004g0069 a0037c0102t0023g0043 a0039c0058t0001g0325 a0047c0059t0003g0012 a0053c0090t0004g0125	63	360	0.1750	-6	c.153 others(25): Show c.1537-3411_1537-3406delGAGAGA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20676160	CTACACA CTACACA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02615.hp2 others(8): Show HG02109.hp2 HG02559.hp1 HG02615.hp2 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA19030.hp1 NA21309.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0007 a0010 a0023 a0027 a0032 a0048 a0053	a0001c0001 a0002c0012 a0002c0041 others(8): Show a0001c0001 a0002c0012 a0002c0041 a0004c0008 a0007c0011 a0010c0042 a0023c0046 a0027c0028 a0032c0108 a0048c0078 a0053c0090	a0001c0001t0001 a0002c0012t0001 a0002c0041t0001 others(8): Show a0001c0001t0001 a0002c0012t0001 a0002c0041t0001 a0004c0008t0005 a0007c0011t0004 a0010c0042t0004 a0023c0046t0001 a0027c0028t0001 a0032c0108t0004 a0048c0078t0004 a0053c0090t0004	a0001c0001t0001g0346 a0002c0012t0001g0121 a0002c0041t0001g0119 others(8): Show a0001c0001t0001g0346 a0002c0012t0001g0121 a0002c0041t0001g0119 a0004c0008t0005g0341 a0007c0011t0004g0124 a0010c0042t0004g0120 a0023c0046t0001g0089 a0027c0028t0001g0343 a0032c0108t0004g0061 a0048c0078t0004g0342 a0053c0090t0004g0125	11	360	0.0306	-6	c.170 others(25): Show c.1708-5338_1708-5333delTACACA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20678610	CAAAACA CAAAACA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01981.hp1 others(7): Show HG00423.hp1 HG00621.hp2 HG01981.hp1 HG02647.hp1 HG03688.hp1 NA18949.hp2 NA18983.hp1 NA18998.hp1 NA19077.hp1 NA19091.hp2	a0001 a0005 a0008 others(6): Show a0001 a0005 a0008 a0016 a0028 a0060 a0061 a0062 a0063	a0001c0001 a0005c0015 a0008c0009 others(6): Show a0001c0001 a0005c0015 a0008c0009 a0016c0021 a0028c0034 a0060c0065 a0061c0081 a0062c0083 a0063c0082	a0001c0001t0001 a0005c0015t0004 a0008c0009t0002 others(7): Show a0001c0001t0001 a0005c0015t0004 a0008c0009t0002 a0016c0021t0014 a0028c0034t0001 a0028c0034t0018 a0060c0065t0006 a0061c0081t0008 a0062c0083t0002 a0063c0082t0001	a0001c0001t0001g0279 a0005c0015t0004g0053 a0008c0009t0002g0215 others(7): Show a0001c0001t0001g0279 a0005c0015t0004g0053 a0008c0009t0002g0215 a0016c0021t0014g0105 a0028c0034t0001g0108 a0028c0034t0018g0100 a0060c0065t0006g0189 a0061c0081t0008g0111 a0062c0083t0002g0112 a0063c0082t0001g0102	10	360	0.0278	-6	c.170 others(25): Show c.1708-2866_1708-2861delCAAAAA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681010	CTTTCTT CTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp2 HG02717.hp1 others(2): Show HG01109.hp2 HG02622.hp2 HG02717.hp1 HG02970.hp2 NA19002.hp2	a0002 a0006 a0007 others(2): Show a0002 a0006 a0007 a0010 a0011	a0002c0003 a0006c0007 a0007c0016 others(2): Show a0002c0003 a0006c0007 a0007c0016 a0010c0031 a0011c0025	a0002c0003t0009 a0006c0007t0001 a0007c0016t0001 others(2): Show a0002c0003t0009 a0006c0007t0001 a0007c0016t0001 a0010c0031t0009 a0011c0025t0001	a0002c0003t0009g0008 a0006c0007t0001g0179 a0007c0016t0001g0115 others(2): Show a0002c0003t0009g0008 a0006c0007t0001g0179 a0007c0016t0001g0115 a0010c0031t0009g0006 a0011c0025t0001g0094	5	360	0.0139	-6	c.170 others(23): Show c.1708-493_1708-488delTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20691168	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00673.hp1 others(11): Show HG00323.hp1 HG00639.hp1 HG00673.hp1 HG01255.hp1 HG01516.hp1 HG01993.hp1 HG03209.hp1 HG03516.hp1 HG03516.hp2 NA18940.hp2 NA18948.hp1 NA18975.hp1 NA19030.hp2 NA19057.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0034 a0048 a0071	a0001c0001 a0001c0005 a0002c0003 others(6): Show a0001c0001 a0001c0005 a0002c0003 a0003c0002 a0004c0004 a0007c0070 a0034c0105 a0048c0078 a0071c0044	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0002c0003t0003 a0003c0002t0001 a0004c0004t0001 a0004c0004t0002 a0007c0070t0009 a0034c0105t0001 a0048c0078t0004 a0071c0044t0001	a0001c0001t0001g0183 a0001c0001t0002g0297 a0001c0005t0001g0276 others(11): Show a0001c0001t0001g0183 a0001c0001t0002g0297 a0001c0005t0001g0276 a0002c0003t0003g0034 a0002c0003t0003g0045 a0002c0003t0003g0048 a0003c0002t0001g0232 a0004c0004t0001g0190 a0004c0004t0002g0150 a0004c0004t0002g0290 a0007c0070t0009g0009 a0034c0105t0001g0304 a0048c0078t0004g0342 a0071c0044t0001g0130	14	360	0.0389	-6	c.201 others(25): Show c.2010+5360_2010+5365delTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711780	CTTTCTT CTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02922.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03195.hp1	a0007 a0014 a0027 a0007 a0014 a0027	a0007c0011 a0014c0024 a0027c0028 a0007c0011 a0014c0024 a0027c0028	a0007c0011t0004 a0014c0024t0004 a0027c0028t0001 a0007c0011t0004 a0014c0024t0004 a0027c0028t0001	a0007c0011t0004g0124 a0014c0024t0004g0241 a0014c0024t0004g0242 others(1): Show a0007c0011t0004g0124 a0014c0024t0004g0241 a0014c0024t0004g0242 a0027c0028t0001g0243	4	360	0.0111	-6	c.242 others(25): Show c.2421+6975_2421+6980delTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20717883	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp2 others(49): Show HG00140.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp1 HG02273.hp2 HG02451.hp1 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp2 HG04184.hp1 HG04184.hp2 NA18946.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp1 NA18965.hp2 NA18970.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19057.hp2 NA19062.hp2 NA19077.hp2 NA19078.hp2 NA20129.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0012 a0013 a0014 a0017 a0019 a0025 a0052 a0055	a0001c0001 a0001c0005 a0001c0064 others(23): Show a0001c0001 a0001c0005 a0001c0064 a0002c0012 a0002c0014 a0002c0035 a0003c0002 a0003c0010 a0004c0004 a0004c0008 a0005c0015 a0006c0007 a0006c0019 a0007c0011 a0007c0016 a0007c0047 a0010c0026 a0012c0013 a0013c0022 a0013c0023 a0014c0024 a0017c0084 a0019c0036 a0025c0030 a0052c0092 a0055c0088	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0001 a0001c0064t0001 a0002c0012t0003 a0002c0014t0011 a0002c0035t0001 a0002c0035t0005 a0003c0002t0001 a0003c0002t0002 a0003c0002t0015 a0003c0010t0001 a0004c0004t0001 a0004c0008t0002 a0005c0015t0004 a0006c0007t0001 a0006c0019t0001 a0006c0019t0002 a0007c0011t0001 a0007c0011t0004 a0007c0016t0003 a0007c0047t0004 a0010c0026t0004 a0012c0013t0002 a0013c0022t0001 a0013c0023t0001 a0014c0024t0001 a0017c0084t0004 a0019c0036t0001 a0025c0030t0005 a0052c0092t0005 a0055c0088t0004	a0001c0001t0001g0054 a0001c0001t0001g0138 a0001c0001t0001g0182 others(49): Show a0001c0001t0001g0054 a0001c0001t0001g0138 a0001c0001t0001g0182 a0001c0001t0001g0283 a0001c0001t0001g0331 a0001c0001t0001g0347 a0001c0001t0002g0255 a0001c0001t0002g0268 a0001c0001t0010g0289 a0001c0005t0001g0270 a0001c0005t0001g0271 a0001c0005t0001g0275 a0001c0064t0001g0246 a0002c0012t0003g0011 a0002c0014t0011g0007 a0002c0035t0001g0070 a0002c0035t0005g0091 a0003c0002t0001g0192 a0003c0002t0001g0204 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0002t0001g0229 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0002g0225 a0003c0002t0015g0318 a0003c0010t0001g0327 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0008t0002g0300 a0005c0015t0004g0281 a0006c0007t0001g0308 a0006c0019t0001g0303 a0006c0019t0002g0339 a0007c0011t0001g0077 a0007c0011t0001g0078 a0007c0011t0001g0079 a0007c0011t0001g0080 a0007c0011t0004g0058 a0007c0011t0004g0059 a0007c0016t0003g0010 a0007c0047t0004g0063 a0010c0026t0004g0072 a0012c0013t0002g0113 a0013c0022t0001g0217 a0013c0023t0001g0219 a0014c0024t0001g0248 a0017c0084t0004g0122 a0019c0036t0001g0071 a0025c0030t0005g0344 a0052c0092t0005g0082 a0055c0088t0004g0076	52	360	0.1444	-6	c.242 others(25): Show c.2422-5102_2422-5097delTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20719942	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp1 HG02135.hp2 others(3): Show HG00438.hp2 HG02056.hp1 HG02135.hp2 HG02970.hp1 NA18612.hp2 NA18986.hp1	a0003 a0004 a0008 others(3): Show a0003 a0004 a0008 a0009 a0013 a0015	a0003c0053 a0004c0008 a0008c0009 others(3): Show a0003c0053 a0004c0008 a0008c0009 a0009c0018 a0013c0022 a0015c0040	a0003c0053t0001 a0004c0008t0006 a0008c0009t0001 others(3): Show a0003c0053t0001 a0004c0008t0006 a0008c0009t0001 a0009c0018t0008 a0013c0022t0021 a0015c0040t0001	a0003c0053t0001g0262 a0004c0008t0006g0118 a0008c0009t0001g0228 others(3): Show a0003c0053t0001g0262 a0004c0008t0006g0118 a0008c0009t0001g0228 a0009c0018t0008g0171 a0013c0022t0021g0202 a0015c0040t0001g0169	6	360	0.0167	-6	c.242 others(25): Show c.2422-3048_2422-3043delCACACA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB7_chrX_75046048_75161283	75047062	GACACAC GACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0221 a0001c0003t0006g0221	1	232	0.0043	-6	c.63 others(17): Show c.6302_*6307delGTGTGT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding		3985		chrX	TogoVar
ABCB7_chrX_75046048_75161283	75094048	ATATATC ATATATC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 NA18982.hp1 HG01070.hp2 HG01071.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0137 a0001c0001t0001g0184 a0001c0001t0009g0185 a0001c0001t0001g0137 a0001c0001t0001g0184 a0001c0001t0009g0185	3	232	0.0129	-6	c.453 others(23): Show c.453+4888_453+4893delGATATA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	4/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75104047	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03704.hp1 HG01106.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0193 a0001c0001t0002g0084 a0001c0001t0001g0193 a0001c0001t0002g0084	2	232	0.0086	-6	c.334 others(23): Show c.334-4992_334-4987delAAAAAA	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	3/15			chrX	TogoVar
ABCB7_chrX_75046048_75161283	75138223	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02559.hp1 HG02895.hp1 others(5): Show HG02129.hp1 HG02559.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG04184.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0035 a0001c0001t0001g0120 a0001c0001t0004g0111 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0120 a0001c0001t0004g0111 a0001c0001t0007g0204 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0007g0215 a0001c0001t0011g0228	8	232	0.0345	-6	c.168 others(25): Show c.168+17876_168+17881delGTGTGT	ABCB7	ENSG00000131269.19	transcript	ENST00000373394.8	protein_coding	1/15			chrX	TogoVar
ABCB8_chr7_151023450_151052782	151029503	CTTTTCT CTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(96): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00609.hp1 HG00642.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01952.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18961.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19089.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0007 others(4): Show a0001 a0005 a0007 a0008 a0009 a0014 a0016	a0001c0001 a0001c0002 a0001c0009 others(8): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0017 a0005c0007 a0007c0012 a0008c0013 a0009c0014 a0014c0016 a0016c0023	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(19): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0015 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0002t0030 a0001c0002t0032 a0001c0009t0009 a0001c0011t0011 a0001c0017t0003 a0005c0007t0003 a0005c0007t0009 a0005c0007t0026 a0007c0012t0003 a0008c0013t0003 a0009c0014t0003 a0014c0016t0003 a0016c0023t0003	a0001c0001t0001g0128 a0001c0002t0002g0096 a0001c0002t0003g0003 others(50): Show a0001c0001t0001g0128 a0001c0002t0002g0096 a0001c0002t0003g0003 a0001c0002t0003g0011 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0035 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0092 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0097 a0001c0002t0003g0099 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0127 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0004g0003 a0001c0002t0013g0029 a0001c0002t0015g0100 a0001c0002t0024g0126 a0001c0002t0025g0003 a0001c0002t0027g0125 a0001c0002t0030g0003 a0001c0002t0032g0011 a0001c0009t0009g0088 a0001c0009t0009g0090 a0001c0009t0009g0091 a0001c0011t0011g0003 a0001c0017t0003g0086 a0005c0007t0003g0009 a0005c0007t0009g0093 a0005c0007t0026g0009 a0007c0012t0003g0003 a0008c0013t0003g0009 a0009c0014t0003g0003 a0014c0016t0003g0098 a0016c0023t0003g0011	99	400	0.2475	-6	c.95+ others(19): Show c.95+898_95+903delCTTTTT	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151050846	CCCCCAG CCCCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18948.hp2 NA18953.hp1 others(3): Show HG00438.hp2 NA18948.hp2 NA18953.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0012 a0002c0003t0004g0036 a0002c0003t0004g0012 a0002c0003t0004g0036	6	400	0.0150	-6	c.54 others(17): Show c.5498_*5503delCCCCAG	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding		3065		chr7	TogoVar
ABCC11_chr16_48160773_48252539	48199672	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01109.hp2 others(9): Show HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 NA20752.hp1	a0003 a0004 a0009 others(1): Show a0003 a0004 a0009 a0018	a0003c0006 a0004c0017 a0009c0010 others(1): Show a0003c0006 a0004c0017 a0009c0010 a0018c0025	a0003c0006t0004 a0004c0017t0001 a0009c0010t0008 others(1): Show a0003c0006t0004 a0004c0017t0001 a0009c0010t0008 a0018c0025t0001	a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 others(9): Show a0003c0006t0004g0011 a0003c0006t0004g0012 a0003c0006t0004g0013 a0003c0006t0004g0026 a0003c0006t0004g0027 a0003c0006t0004g0028 a0004c0017t0001g0029 a0004c0017t0001g0031 a0009c0010t0008g0025 a0009c0010t0008g0035 a0009c0010t0008g0036 a0018c0025t0001g0030	12	158	0.0760	-6	c.208 others(23): Show c.2082+598_2082+603delAAAAAA	ABCC11	ENSG00000121270.16	transcript	ENST00000356608.7	protein_coding	15/29			chr16	TogoVar

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