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
ATP6V1E1_chr22_17587136_17633749	17631668	GTGTATAT others(13): Show GTGTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0174 a0001c0001t0001g0175	2	370	0.0054	-20	c.-30 others(31): Show c.-3053_-3034delTATATATATATATATATACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2920		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	GTATATAT others(13): Show GTATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 NA18967.hp2 HG02015.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0090 a0001c0001t0001g0092	2	370	0.0054	-20	c.-30 others(31): Show c.-3055_-3036delTATATATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1G3_chr1_198518222_198545680	198529198	ATATATAT others(13): Show ATATATATATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	405	0.0025	-20	c.83- others(31): Show c.83-37_83-18delATTATATATATATATATATA	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP6V1G3_chr1_198518222_198545680	198538287	AAGATTGC others(13): Show AAGATTGCCCAAGGACAGCAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG03139.hp1 others(3): Show HG01891.hp2 HG02145.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099	6	405	0.0148	-20	c.82+ others(35): Show c.82+2262_82+2281delATGCTGTCCTTGGGCAATCT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53739130	TTAATTTA others(13): Show TTAATTTAGAAATTAGAATTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0265 a0001c0001t0004g0266	2	286	0.0070	-20	c.139 others(39): Show c.1391+4427_1391+4446delGAATTCTAATTTCTAAATTA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	13/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG03540.hp2 HG02886.hp2 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0278 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0278	3	286	0.0105	-20	c.127 others(37): Show c.1277+850_1277+869delATATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755726	ATATATAT others(13): Show ATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	286	0.0035	-20	c.127 others(37): Show c.1277+809_1277+828delAATATATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53765454	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	286	0.0035	-20	c.117 others(39): Show c.1175+4144_1175+4163delGTGTGTGTGTGTGTGTGTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13			chr8	TogoVar
ATP8A1_chr4_42403373_42662105	42500365	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0011 a0001c0001t0015g0011	1	310	0.0032	-20	c.215 others(39): Show c.2151+3065_2151+3084delGTTTTGTTTTGTTTTGTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	24/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555085	GTATCTAT others(13): Show GTATCTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA19064.hp2 NA19077.hp1 HG04184.hp2 NA19064.hp2 NA19077.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0008 a0003c0006t0001 a0001c0001t0001 a0001c0001t0008 a0003c0006t0001	a0001c0001t0001g0062 a0001c0001t0008g0084 a0003c0006t0001g0159 a0001c0001t0001g0062 a0001c0001t0008g0084 a0003c0006t0001g0159	3	310	0.0097	-20	c.141 others(37): Show c.1413+863_1413+882delGATAGATAGATAGATAGATA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555127	ATCTATCT others(13): Show ATCTATCTATCTAATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	310	0.0032	-20	c.141 others(37): Show c.1413+821_1413+840delAGATAGATTAGATAGATAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555134	TATCTAAT others(13): Show TATCTAATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	310	0.0032	-20	c.141 others(37): Show c.1413+814_1413+833delGATAGATAGATAGATTAGAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	AATCTATC others(13): Show AATCTATCTATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	310	0.0032	-20	c.141 others(37): Show c.1413+809_1413+828delAGATAGATAGATAGATAGAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635776	CACACACA others(13): Show CACACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG03453.hp2 others(1): Show HG02257.hp2 HG02280.hp2 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0032 a0001c0002t0003 a0001c0002t0004 a0001c0002t0022	a0001c0001t0032g0279 a0001c0002t0003g0188 a0001c0002t0004g0018 others(1): Show a0001c0001t0032g0279 a0001c0002t0003g0188 a0001c0002t0004g0018 a0001c0002t0022g0001	4	310	0.0129	-20	c.50- others(35): Show c.50-8687_50-8668delATATATATATATATGTGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25507245	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp1 others(10): Show HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01243.hp1 HG01496.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02895.hp2 HG03540.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 others(1): Show a0001c0003 a0001c0004 a0001c0006 a0001c0017	a0001c0003t0007 a0001c0004t0002 a0001c0004t0003 others(9): Show a0001c0003t0007 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0022 a0001c0004t0049 a0001c0004t0068 a0001c0006t0006 a0001c0006t0020 a0001c0006t0043 a0001c0017t0036	a0001c0003t0007g0109 a0001c0004t0002g0049 a0001c0004t0002g0080 others(10): Show a0001c0003t0007g0109 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 a0001c0004t0004g0048 a0001c0004t0005g0089 a0001c0004t0022g0054 a0001c0004t0049g0086 a0001c0004t0068g0071 a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0006t0043g0095 a0001c0017t0036g0019	13	122	0.1066	-20	c.222 others(39): Show c.222-22752_222-22733delGTGTGTGTGTGTGTGTGTAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25524886	ACTTCCTT others(13): Show ACTTCCTTCCTTCCTTCCTTC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp2 HG02280.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0008 a0001c0009t0037 a0001c0001t0008 a0001c0009t0037	a0001c0001t0008g0073 a0001c0009t0037g0008 a0001c0001t0008g0073 a0001c0009t0037g0008	2	122	0.0164	-20	c.222 others(37): Show c.222-5080_222-5061delCTTCCTTCCTTCCTTCCTTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25713791	GAGCTAGC others(13): Show GAGCTAGCAGCTCCCCAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01070.hp2 others(9): Show HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01175.hp1 HG01243.hp2 HG01981.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0012 a0001c0021	a0001c0001t0004 a0001c0001t0015 a0001c0001t0018 others(7): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0018 a0001c0001t0040 a0001c0001t0051 a0001c0002t0001 a0001c0003t0061 a0001c0006t0043 a0001c0012t0002 a0001c0021t0055	a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0015g0016 others(9): Show a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0015g0016 a0001c0001t0015g0082 a0001c0001t0018g0041 a0001c0001t0040g0038 a0001c0001t0051g0053 a0001c0002t0001g0039 a0001c0003t0061g0055 a0001c0006t0043g0095 a0001c0012t0002g0110 a0001c0021t0055g0077	12	122	0.0984	-20	c.238 others(41): Show c.2384+14458_2384+14477delCCCCAGGGTAGCTAGCAGCT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02273.hp1 HG03139.hp2 others(3): Show HG01243.hp2 HG02273.hp1 HG03139.hp2 HG03490.hp1 NA18906.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021	a0001c0001t0015 a0001c0001t0030 a0001c0002t0071 others(3): Show a0001c0001t0015 a0001c0001t0030 a0001c0002t0071 a0001c0003t0007 a0001c0003t0065 a0001c0021t0055	a0001c0001t0015g0082 a0001c0001t0030g0087 a0001c0002t0071g0096 others(3): Show a0001c0001t0015g0082 a0001c0001t0030g0087 a0001c0002t0071g0096 a0001c0003t0007g0109 a0001c0003t0065g0033 a0001c0021t0055g0077	6	122	0.0492	-20	c.275 others(39): Show c.2754+1510_2754+1529delATATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57717547	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03831.hp1 HG02132.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0081 a0001c0001t0009g0199 a0001c0001t0004g0081 a0001c0001t0009g0199	2	314	0.0064	-20	c.182 others(39): Show c.182-10980_182-10961delTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57731308	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0033 a0006c0009t0033	a0006c0009t0033g0080 a0006c0009t0033g0080	1	314	0.0032	-20	c.181 others(35): Show c.181+299_181+318delATATATATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57761112	TATAAAAT others(13): Show TATAAAATAAAATAAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0312 a0001c0001t0048g0312	1	314	0.0032	-20	c.-25 others(39): Show c.-25-29300_-25-29281delTTTATTTTATTTTATTTTAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1787728	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0337 a0003c0002t0004g0337	1	390	0.0026	-20	c.307 others(37): Show c.3070-562_3070-543delTTTTTTTTTTTTTTTTTTTT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	24/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1790300	CCCCCTCC others(13): Show CCCCCTCCCTCCACTGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0005 a0002c0003t0005 a0001c0004t0005 a0002c0003t0005	a0001c0004t0005g0376 a0002c0003t0005g0372 a0001c0004t0005g0376 a0002c0003t0005g0372	2	390	0.0051	-20	c.237 others(37): Show c.2379-331_2379-312delAGGGGCAGTGGAGGGAGGGG	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	21/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1795784	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp2 HG01975.hp1 others(13): Show HG00621.hp1 HG01070.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02615.hp2 HG03540.hp2 NA18990.hp2 NA19009.hp1 NA19011.hp1 NA19055.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0018	a0001c0004 a0001c0011 a0001c0062 others(8): Show a0001c0004 a0001c0011 a0001c0062 a0003c0002 a0003c0005 a0003c0010 a0004c0012 a0004c0016 a0004c0018 a0006c0021 a0018c0070	a0001c0004t0003 a0001c0011t0001 a0001c0062t0002 others(9): Show a0001c0004t0003 a0001c0011t0001 a0001c0062t0002 a0003c0002t0004 a0003c0005t0004 a0003c0010t0006 a0004c0012t0001 a0004c0016t0002 a0004c0018t0002 a0004c0018t0003 a0006c0021t0002 a0018c0070t0002	a0001c0004t0003g0094 a0001c0011t0001g0227 a0001c0062t0002g0107 others(13): Show a0001c0004t0003g0094 a0001c0011t0001g0227 a0001c0062t0002g0107 a0003c0002t0004g0303 a0003c0002t0004g0304 a0003c0002t0004g0309 a0003c0002t0004g0368 a0003c0005t0004g0307 a0003c0010t0006g0301 a0003c0010t0006g0302 a0004c0012t0001g0122 a0004c0016t0002g0073 a0004c0018t0002g0181 a0004c0018t0003g0209 a0006c0021t0002g0015 a0018c0070t0002g0108	16	390	0.0410	-20	c.205 others(35): Show c.2055+71_2055+90delGTGTGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	18/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1797468	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02451.hp1 others(9): Show HG01243.hp2 HG01891.hp2 HG02451.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 NA18522.hp2 NA20300.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0020 a0000c0027 a0000c0050 others(6): Show a0000c0020 a0000c0027 a0000c0050 a0001c0004 a0001c0030 a0002c0003 a0002c0007 a0002c0019 a0002c0048	a0000c0020t0008 a0000c0027t0008 a0000c0050t0008 others(6): Show a0000c0020t0008 a0000c0027t0008 a0000c0050t0008 a0001c0004t0003 a0001c0030t0002 a0002c0003t0005 a0002c0007t0004 a0002c0019t0011 a0002c0048t0021	a0000c0020t0008g0378 a0000c0027t0008g0263 a0000c0050t0008g0236 others(9): Show a0000c0020t0008g0378 a0000c0027t0008g0263 a0000c0050t0008g0236 a0001c0004t0003g0009 a0001c0030t0002g0042 a0002c0003t0005g0262 a0002c0003t0005g0274 a0002c0007t0004g0251 a0002c0007t0004g0255 a0002c0019t0011g0254 a0002c0019t0011g0256 a0002c0048t0021g0289	12	390	0.0308	-20	c.155 others(37): Show c.1553-483_1553-464delTAAATAAATAAATAAATAAA	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	14/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	49978739	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20905.hp2 HG03516.hp1 NA20905.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0007 a0004c0004t0005 a0003c0003t0007 a0004c0004t0005	a0003c0003t0007g0049 a0004c0004t0005g0249 a0003c0003t0007g0049 a0004c0004t0005g0249	2	254	0.0079	-20	c.103 others(37): Show c.1034+858_1034+877delGTGTGTGTGTGTGTGTGTGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	12/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50021118	TGATAGAT others(13): Show TGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp1 HG02809.hp1 others(1): Show HG02258.hp2 HG02572.hp1 HG02809.hp1 HG02976.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0031 a0007c0007t0001 a0001c0001t0031 a0007c0007t0001	a0001c0001t0031g0241 a0007c0007t0001g0240 a0007c0007t0001g0242 others(1): Show a0001c0001t0031g0241 a0007c0007t0001g0240 a0007c0007t0001g0242 a0007c0007t0001g0243	4	254	0.0158	-20	c.363 others(39): Show c.363-10221_363-10202delTATCTATCTATCTATCTATC	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50054790	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG03139.hp1 HG02572.hp2 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237	3	254	0.0118	-20	c.88- others(35): Show c.88-7346_88-7327delGTTTTTTTTTTTTTTTTTTT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072966	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02809.hp2 HG01069.hp1 HG02809.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0014 a0004c0004t0011 a0002c0002t0014 a0004c0004t0011	a0002c0002t0014g0054 a0004c0004t0011g0022 a0002c0002t0014g0054 a0004c0004t0011g0022	2	254	0.0079	-20	c.87+ others(35): Show c.87+1141_87+1160delTATATAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072968	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0120 a0002c0002t0003g0120	1	254	0.0039	-20	c.87+ others(35): Show c.87+1139_87+1158delTATATATAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072970	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0082 a0003c0003t0004g0082	1	254	0.0039	-20	c.87+ others(35): Show c.87+1137_87+1156delTATATATATAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50098266	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0094 a0005c0005t0001g0094	1	254	0.0039	-20	c.28+ others(35): Show c.28+8653_28+8672delAAAAAAAAAAAAAAAAAAAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(13): Show TTTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19005.hp2 NA20129.hp2 NA18952.hp2 NA19005.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0191 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0002g0191 a0001c0001t0003g0012 a0001c0001t0003g0013	3	312	0.0096	-20	c.166 others(39): Show c.1668+1254_1668+1273delTATATATATATATATATAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02647.hp1 others(5): Show HG02109.hp1 HG02257.hp1 HG02647.hp1 HG02809.hp1 HG03130.hp1 HG03453.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0018 a0001c0002 a0001c0003 a0001c0018	a0001c0002t0013 a0001c0002t0016 a0001c0003t0007 others(3): Show a0001c0002t0013 a0001c0002t0016 a0001c0003t0007 a0001c0003t0010 a0001c0003t0031 a0001c0018t0009	a0001c0002t0013g0055 a0001c0002t0016g0049 a0001c0003t0007g0130 others(5): Show a0001c0002t0013g0055 a0001c0002t0016g0049 a0001c0003t0007g0130 a0001c0003t0010g0112 a0001c0003t0010g0155 a0001c0003t0010g0204 a0001c0003t0031g0222 a0001c0018t0009g0154	8	312	0.0256	-20	c.166 others(39): Show c.1668+1252_1668+1271delTATATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51642726	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0110 a0001c0002t0057g0110	1	312	0.0032	-20	c.150 others(39): Show c.1507-3242_1507-3223delTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51765261	ATGTTGCT others(13): Show ATGTTGCTACTCCTGAAAATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0204 a0001c0003t0010g0204	1	312	0.0032	-20	c.68+ others(35): Show c.68+3021_68+3040delCATTTTCAGGAGTAGCAACA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79163626	CTTTCTTG others(13): Show CTTTCTTGTACTGCTTCTTAG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02572.hp2 others(1): Show HG01106.hp2 HG01884.hp1 HG02572.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0037 a0001c0004 a0001c0037	a0001c0004t0003 a0001c0037t0003 a0001c0004t0003 a0001c0037t0003	a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 others(1): Show a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0037t0003g0104	4	298	0.0134	-20	c.778 others(37): Show c.778+9074_778+9093delTCTTGTACTGCTTCTTAGTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79256257	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG03041.hp1 others(1): Show HG01168.hp2 HG01169.hp2 HG03041.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0013 a0002c0002 a0001c0004 a0001c0013 a0002c0002	a0001c0004t0003 a0001c0013t0004 a0002c0002t0004 a0001c0004t0003 a0001c0013t0004 a0002c0002t0004	a0001c0004t0003g0113 a0001c0013t0004g0108 a0001c0013t0004g0111 others(1): Show a0001c0004t0003g0113 a0001c0013t0004g0108 a0001c0013t0004g0111 a0002c0002t0004g0253	4	298	0.0134	-20	c.126 others(39): Show c.1268+2727_1268+2746delTATATATATATATATATATA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327692	GTGGTTAG others(13): Show GTGGTTAGTGTGCTCTCTCCA	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	298	0.0034	-20	c.177 others(39): Show c.1774-1441_1774-1422delTGTGCTCTCTCCATGGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115230870	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01515.hp2 HG01943.hp1 others(9): Show HG01258.hp1 HG01515.hp2 HG01943.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG03239.hp2 HG03834.hp2 HG06807.hp2 NA18959.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0029 a0001c0002t0028 a0001c0003t0002 a0001c0006t0009 a0001c0013t0009	a0001c0001t0001g0120 a0001c0001t0002g0077 a0001c0001t0002g0080 others(9): Show a0001c0001t0001g0120 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0123 a0001c0001t0008g0079 a0001c0001t0008g0082 a0001c0001t0009g0122 a0001c0001t0029g0075 a0001c0002t0028g0076 a0001c0003t0002g0081 a0001c0006t0009g0038 a0001c0013t0009g0078	12	128	0.0938	-20	c.153 others(41): Show c.1533-10668_1533-10649delGAGAGAGAGAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115528053	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0106 a0001c0003t0038g0106	1	128	0.0078	-20	c.371 others(39): Show c.3716+8731_3716+8750delTTCCTTCCTTCCTTCCTTTC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115529487	TTTATTAA others(13): Show TTTATTAATTGAATGAGCTTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01515.hp2 HG02055.hp2 others(8): Show HG01071.hp2 HG01515.hp2 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG03239.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0029 a0002c0014t0009	a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0124 others(8): Show a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0123 a0001c0001t0003g0104 a0001c0001t0008g0079 a0001c0001t0008g0082 a0001c0001t0029g0075 a0002c0014t0009g0072	11	128	0.0859	-20	c.371 others(41): Show c.3716+10185_3716+10204delTATTAATTGAATGAGCTTCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115630827	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	128	0.0078	-20	c.379 others(41): Show c.3795+81319_3795+81338delCACACACACACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115740835	CACACACA others(13): Show CACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG02723.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0030 a0001c0001t0003 a0001c0007t0030	a0001c0001t0003g0061 a0001c0007t0030g0008 a0001c0001t0003g0061 a0001c0007t0030g0008	2	128	0.0156	-20	c.390 others(41): Show c.3903+13492_3903+13511delCACACACAAACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115837466	CCACACAC others(13): Show CCACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01952.hp2 HG02970.hp2 others(2): Show HG01071.hp1 HG01952.hp2 HG02970.hp2 HG03041.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0016 a0001c0002 a0001c0003 a0001c0016	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0003t0003 a0001c0016t0003	a0001c0002t0001g0052 a0001c0002t0005g0044 a0001c0002t0006g0062 others(2): Show a0001c0002t0001g0052 a0001c0002t0005g0044 a0001c0002t0006g0062 a0001c0003t0003g0060 a0001c0016t0003g0097	5	128	0.0391	-20	c.390 others(41): Show c.3904-10369_3904-10350delACACACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3620219	AGTTTTGT others(13): Show AGTTTTGTTTTGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00621.hp1 others(68): Show HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01952.hp2 HG02015.hp2 HG02055.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02630.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG03098.hp1 HG03490.hp1 HG03579.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18985.hp2 NA18994.hp1 NA18994.hp2 NA19030.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19075.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0012 a0014 others(2): Show a0001 a0012 a0014 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0012c0029 a0014c0026 a0016c0028 a0017c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0030 a0001c0002t0003 a0001c0002t0032 a0001c0003t0002 a0001c0014t0002 a0012c0029t0002 a0014c0026t0001 a0016c0028t0001 a0017c0032t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(68): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0002g0086 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0009g0022 a0001c0001t0009g0046 a0001c0001t0009g0047 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0030g0143 a0001c0002t0003g0146 a0001c0002t0032g0033 a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0014t0002g0170 a0001c0014t0002g0174 a0012c0029t0002g0122 a0014c0026t0001g0032 a0016c0028t0001g0074 a0017c0032t0001g0195	71	220	0.3227	-20	c.380 others(39): Show c.3802-4265_3802-4246delTTTTGTTTTGTTTTGTTTTG	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	24/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp2 HG03139.hp1 others(2): Show HG00738.hp1 HG01496.hp2 HG03139.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0001t0001 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0160 a0001c0001t0009g0002 a0001c0003t0001g0095 others(2): Show a0001c0001t0001g0160 a0001c0001t0009g0002 a0001c0003t0001g0095 a0001c0003t0001g0155 a0001c0003t0001g0217	5	218	0.0229	-20	c.513 others(39): Show c.5135-5516_5135-5497delATATATATATATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77716126	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	218	0.0046	-20	c.133 others(36): Show c.133+985_133+1004delCAAAAAAAAAAAAAAAAAAA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	2/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77735598	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	218	0.0046	-20	c.21- others(37): Show c.21-18375_21-18356delTTTATTTATTTATTTATTTA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77757082	GACCTATA others(13): Show GACCTATATCTTTTGATATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02451.hp1 others(16): Show HG01243.hp1 HG02055.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0001c0001t0021 a0001c0003t0001 a0001c0005t0005 a0001c0007t0005	a0001c0001t0005g0069 a0001c0001t0005g0073 a0001c0001t0005g0074 others(16): Show a0001c0001t0005g0069 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0213 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0070 a0001c0001t0008g0005 a0001c0001t0008g0006 a0001c0001t0008g0077 a0001c0001t0020g0180 a0001c0001t0021g0078 a0001c0003t0001g0080 a0001c0005t0005g0076 a0001c0005t0005g0081 a0001c0005t0005g0082 a0001c0007t0005g0079	19	218	0.0872	-20	c.20+ others(37): Show c.20+28880_20+28899delATATATCAAAAGATATAGGT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	1/34			chrX	TogoVar

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