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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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
ACTRT3_chr3_169761921_169774561	169773428	TGAAGAAA others(12): Show TGAAGAAACTGTGTTCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-19	c.-39 others(30): Show c.-3927_-3909delGGGGGAACACAGTTTCTTC	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		3868		chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	324	0.0031	-19	c.139 others(36): Show c.1393-199_1393-181delAAAAAAAAAAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR2A_chr2_147840029_147935822	147891958	TTTTTGTT others(12): Show TTTTTGTTTTTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	338	0.0030	-19	c.56- others(34): Show c.56-4330_56-4312delTGTTTTGTTTTGTTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACY1_chr3_51978535_51994197	51981894	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01358.hp1 HG03927.hp1 others(1): Show HG00673.hp2 HG01358.hp1 HG03927.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0002 a0001c0001t0001g0014	4	338	0.0118	-19	c.-17 others(30): Show c.-1713_-1695delAAAAAAAAAAAAAAAAAAA	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding		1640		chr3	TogoVar
ACYP2_chr2_53966113_54310300	53967649	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	272	0.0037	-19	c.-37 others(30): Show c.-3708_-3690delAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding		3463		chr2	TogoVar
ACYP2_chr2_53966113_54310300	54132015	CAAGTGCT others(12): Show CAAGTGCTTTCTCTTTTCAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	272	0.0037	-19	c.278 others(36): Show c.278-3435_278-3417delGTGCTTTCTCTTTTCATAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54170661	AGGGATTG others(12): Show AGGGATTGTAATATGACTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0006 a0001c0002t0006g0006	1	272	0.0037	-19	c.404 others(38): Show c.404+31932_404+31950delTGGGATTGTAATATGACTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01346.hp1 HG02615.hp1 others(4): Show HG01255.hp1 HG01346.hp1 HG02615.hp1 HG02809.hp2 HG02970.hp2 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0006 a0001c0001t0001 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0193 a0001c0001t0001g0233 a0001c0001t0001g0263 others(4): Show a0001c0001t0001g0193 a0001c0001t0001g0233 a0001c0001t0001g0263 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0006g0002	7	272	0.0257	-19	c.404 others(38): Show c.404+63981_404+63999delTTTTTTTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAD1_chr4_122374011_122434784	122431111	TCACCTTC others(12): Show TCACCTTCTCTTGGCTCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 NA18975.hp2 NA19000.hp1 others(6): Show HG02129.hp2 NA18975.hp2 NA19000.hp1 NA19002.hp1 NA19012.hp1 NA19056.hp2 NA19072.hp2 NA19077.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0230 a0001c0001t0001g0234 others(6): Show a0001c0001t0001g0212 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0272 a0001c0001t0001g0298 a0001c0001t0001g0299	9	376	0.0239	-19	c.13 others(30): Show c.1373_*1391delCACCTTCTCTTGGCTCTTC	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding		1328		chr4	TogoVar
ADAM10_chr15_58583809_58754707	58593149	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18942.hp2 NA18966.hp2 others(4): Show NA18940.hp1 NA18942.hp2 NA18966.hp2 NA18992.hp2 NA19077.hp1 NA19085.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0205 a0001c0001t0009g0217 a0001c0001t0009g0227 others(4): Show a0001c0001t0009g0205 a0001c0001t0009g0217 a0001c0001t0009g0227 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0261	7	342	0.0205	-19	c.43 others(30): Show c.4379_*4397delAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	16/16	4379		chr15	TogoVar
ADAM12_chr10_126007391_126393477	126113688	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0020 a0002c0017t0020	a0002c0017t0020g0249 a0002c0017t0020g0249	1	252	0.0040	-19	c.604 others(36): Show c.604-3867_604-3849delATATATATATATATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126131104	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02896.hp1 others(1): Show HG02280.hp1 HG02486.hp1 HG02896.hp1 HG02897.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0037 a0002c0054 a0004c0022 a0001c0037 a0002c0054 a0004c0022	a0001c0037t0011 a0002c0054t0001 a0004c0022t0002 others(1): Show a0001c0037t0011 a0002c0054t0001 a0004c0022t0002 a0004c0022t0020	a0001c0037t0011g0043 a0002c0054t0001g0011 a0004c0022t0002g0168 others(1): Show a0001c0037t0011g0043 a0002c0054t0001g0011 a0004c0022t0002g0168 a0004c0022t0020g0167	4	252	0.0159	-19	c.416 others(36): Show c.416+4461_416+4479delAAAAAAAAAAAAAAAAAAA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126143047	TATATGGT others(12): Show TATATGGTGTGCACATGTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(61): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01071.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18946.hp2 NA18951.hp1 NA18966.hp2 NA18972.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp2 NA19011.hp2 NA19084.hp2 NA19090.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010 a0012 a0015	a0001c0002 a0001c0003 a0001c0004 others(24): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0033 a0001c0036 a0001c0037 a0001c0038 a0002c0001 a0002c0005 a0002c0006 a0002c0007 a0002c0016 a0002c0054 a0003c0028 a0004c0022 a0004c0046 a0004c0047 a0006c0044 a0008c0057 a0010c0058 a0012c0039 a0015c0035	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(46): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0048 a0001c0003t0003 a0001c0003t0007 a0001c0003t0010 a0001c0004t0002 a0001c0004t0004 a0001c0004t0011 a0001c0004t0022 a0001c0004t0047 a0001c0008t0001 a0001c0008t0002 a0001c0008t0040 a0001c0009t0007 a0001c0009t0015 a0001c0010t0001 a0001c0010t0002 a0001c0013t0001 a0001c0014t0003 a0001c0014t0009 a0001c0014t0010 a0001c0033t0001 a0001c0036t0003 a0001c0037t0011 a0001c0038t0009 a0002c0001t0001 a0002c0001t0005 a0002c0001t0006 a0002c0005t0003 a0002c0005t0007 a0002c0005t0009 a0002c0005t0010 a0002c0005t0030 a0002c0006t0008 a0002c0007t0002 a0002c0016t0001 a0002c0054t0001 a0003c0028t0019 a0004c0022t0002 a0004c0022t0020 a0004c0046t0010 a0004c0047t0004 a0006c0044t0042 a0008c0057t0004 a0010c0058t0014 a0012c0039t0004 a0015c0035t0003	a0001c0002t0001g0185 a0001c0002t0001g0212 a0001c0002t0005g0210 others(61): Show a0001c0002t0001g0185 a0001c0002t0001g0212 a0001c0002t0005g0210 a0001c0002t0008g0017 a0001c0002t0048g0035 a0001c0003t0003g0025 a0001c0003t0003g0030 a0001c0003t0003g0088 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0007g0087 a0001c0003t0010g0140 a0001c0004t0002g0193 a0001c0004t0004g0099 a0001c0004t0004g0129 a0001c0004t0011g0177 a0001c0004t0022g0189 a0001c0004t0047g0152 a0001c0008t0001g0078 a0001c0008t0002g0219 a0001c0008t0040g0012 a0001c0009t0007g0138 a0001c0009t0015g0237 a0001c0010t0001g0218 a0001c0010t0002g0139 a0001c0013t0001g0026 a0001c0013t0001g0027 a0001c0014t0003g0090 a0001c0014t0009g0095 a0001c0014t0010g0064 a0001c0033t0001g0162 a0001c0036t0003g0100 a0001c0037t0011g0043 a0001c0038t0009g0070 a0002c0001t0001g0114 a0002c0001t0001g0146 a0002c0001t0005g0233 a0002c0001t0006g0020 a0002c0005t0003g0122 a0002c0005t0007g0111 a0002c0005t0007g0158 a0002c0005t0007g0199 a0002c0005t0009g0103 a0002c0005t0009g0227 a0002c0005t0010g0059 a0002c0005t0030g0006 a0002c0006t0008g0155 a0002c0007t0002g0108 a0002c0007t0002g0117 a0002c0007t0002g0119 a0002c0007t0002g0123 a0002c0016t0001g0056 a0002c0016t0001g0118 a0002c0054t0001g0011 a0003c0028t0019g0039 a0004c0022t0002g0168 a0004c0022t0020g0167 a0004c0046t0010g0228 a0004c0047t0004g0164 a0006c0044t0042g0175 a0008c0057t0004g0248 a0010c0058t0014g0010 a0012c0039t0004g0190 a0015c0035t0003g0171	64	252	0.2540	-19	c.340 others(36): Show c.340-7406_340-7388delGCACATGTGCACACCATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	4/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126203843	CCTGTGAT others(12): Show CCTGTGATGGACTTCACCCT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0074 a0002c0001t0001g0074	1	252	0.0040	-19	c.261 others(38): Show c.261-48557_261-48539delAGGGTGAAGTCCATCACAG	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	3/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9503140	AAAAAAAA others(12): Show AAAAAAAAAAAAAGACAAGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0193 a0001c0002t0002g0193	1	234	0.0043	-19	c.154 others(36): Show c.1545-883_1545-865delCCTTGTCTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	12/18			chr2	TogoVar
ADAMTS16_chr5_5135330_5325304	5305234	ACACACAC others(12): Show ACACACACACAATCCCACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp2 HG03704.hp1 HG01109.hp1 HG01433.hp2 HG03704.hp1	a0002 a0011 a0002 a0011	a0002c0013 a0002c0082 a0011c0021 a0002c0013 a0002c0082 a0011c0021	a0002c0013t0005 a0002c0082t0002 a0011c0021t0001 a0002c0013t0005 a0002c0082t0002 a0011c0021t0001	a0002c0013t0005g0290 a0002c0082t0002g0300 a0011c0021t0001g0152 a0002c0013t0005g0290 a0002c0082t0002g0300 a0011c0021t0001g0152	3	332	0.0090	-19	c.318 others(38): Show c.3187-1240_3187-1222delATCCCACACCACACACACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS17_chr15_99966437_100346975	99977373	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0002 a0002c0029t0002	a0002c0029t0002g0067 a0002c0029t0002g0067	1	228	0.0044	-19	c.295 others(38): Show c.2950-1170_2950-1152delTATATATATATATATATAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	99977377	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03017.hp1 HG03239.hp2 HG00423.hp1 HG03017.hp1 HG03239.hp2	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0002 a0002c0001t0004 a0002c0004t0019 a0002c0001t0002 a0002c0001t0004 a0002c0004t0019	a0002c0001t0002g0174 a0002c0001t0004g0154 a0002c0004t0019g0048 a0002c0001t0002g0174 a0002c0001t0004g0154 a0002c0004t0019g0048	3	228	0.0132	-19	c.295 others(38): Show c.2950-1174_2950-1156delTATATATATATATATATAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	99977379	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(11): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00735.hp1 HG00735.hp2 HG02080.hp1 HG02080.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp1 HG03654.hp1 NA18988.hp1 NA19030.hp2 NA19064.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0005 a0001c0018 others(7): Show a0001c0002 a0001c0005 a0001c0018 a0002c0001 a0002c0004 a0002c0011 a0002c0052 a0002c0064 a0005c0024 a0005c0035	a0001c0002t0007 a0001c0002t0011 a0001c0002t0019 others(10): Show a0001c0002t0007 a0001c0002t0011 a0001c0002t0019 a0001c0005t0004 a0001c0005t0009 a0001c0018t0010 a0002c0001t0002 a0002c0004t0074 a0002c0011t0064 a0002c0052t0069 a0002c0064t0005 a0005c0024t0002 a0005c0035t0010	a0001c0002t0007g0180 a0001c0002t0011g0160 a0001c0002t0019g0026 others(11): Show a0001c0002t0007g0180 a0001c0002t0011g0160 a0001c0002t0019g0026 a0001c0005t0004g0104 a0001c0005t0009g0015 a0001c0018t0010g0006 a0001c0018t0010g0007 a0002c0001t0002g0144 a0002c0004t0074g0228 a0002c0011t0064g0226 a0002c0052t0069g0076 a0002c0064t0005g0150 a0005c0024t0002g0135 a0005c0035t0010g0021	14	228	0.0614	-19	c.295 others(38): Show c.2950-1176_2950-1158delTATATATATATATATATAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	99977381	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02257.hp1 others(5): Show HG01257.hp2 HG01258.hp2 HG02257.hp1 HG03831.hp1 HG03834.hp1 NA18906.hp2 NA18964.hp1 NA20752.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0072 a0002c0001 a0002c0022 others(4): Show a0001c0072 a0002c0001 a0002c0022 a0002c0055 a0005c0020 a0005c0024 a0006c0060	a0001c0072t0005 a0002c0001t0033 a0002c0022t0005 others(4): Show a0001c0072t0005 a0002c0001t0033 a0002c0022t0005 a0002c0055t0014 a0005c0020t0005 a0005c0024t0002 a0006c0060t0014	a0001c0072t0005g0182 a0002c0001t0033g0010 a0002c0022t0005g0097 others(5): Show a0001c0072t0005g0182 a0002c0001t0033g0010 a0002c0022t0005g0097 a0002c0055t0014g0002 a0005c0020t0005g0220 a0005c0020t0005g0221 a0005c0024t0002g0153 a0006c0060t0014g0025	8	228	0.0351	-19	c.295 others(38): Show c.2950-1178_2950-1160delTATATATATATATATATAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	99977384	ATATATAT others(12): Show ATATATATATATATATAATT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0005 a0001c0047t0005	a0001c0047t0005g0209 a0001c0047t0005g0209	1	228	0.0044	-19	c.295 others(38): Show c.2950-1181_2950-1163delAATTATATATATATATATA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	20/21			chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77292109	CAGCCTCA others(12): Show CAGCCTCAGCAACATGGTGA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19030.hp1 HG03041.hp1 NA19030.hp1	a0007 a0021 a0007 a0021	a0007c0010 a0021c0028 a0007c0010 a0021c0028	a0007c0010t0032 a0021c0028t0031 a0007c0010t0032 a0021c0028t0031	a0007c0010t0032g0310 a0021c0028t0031g0306 a0007c0010t0032g0310 a0021c0028t0031g0306	2	326	0.0061	-19	c.319 others(36): Show c.3190-650_3190-632delTCACCATGTTGCTGAGGCT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	20/22			chr16	TogoVar
ADAMTS2_chr5_179105853_179350461	179277724	CCCGAGAC others(12): Show CCCGAGACCAAAGGCTGACA	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0261 a0003c0003t0001g0261	1	276	0.0036	-19	c.535 others(36): Show c.535-4679_535-4661delTGTCAGCCTTTGGTCTCGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277862	CCCCTGAG others(12): Show CCCCTGAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01952.hp2 others(1): Show HG01069.hp2 HG01071.hp1 HG01952.hp2 HG03139.hp2	a0002 a0009 a0018 a0002 a0009 a0018	a0002c0012 a0009c0041 a0018c0032 a0002c0012 a0009c0041 a0018c0032	a0002c0012t0001 a0009c0041t0003 a0018c0032t0001 a0002c0012t0001 a0009c0041t0003 a0018c0032t0001	a0002c0012t0001g0056 a0009c0041t0003g0164 a0018c0032t0001g0088 others(1): Show a0002c0012t0001g0056 a0009c0041t0003g0164 a0018c0032t0001g0088 a0018c0032t0001g0089	4	276	0.0145	-19	c.535 others(36): Show c.535-4817_535-4799delTCAGCCTTTGGTCTCAGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179342985	CGCTGCCC others(12): Show CGCTGCCCCCAAAAGATCGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0101 a0004c0101	a0004c0101t0002 a0004c0101t0002	a0004c0101t0002g0223 a0004c0101t0002g0223	1	276	0.0036	-19	c.534 others(34): Show c.534+763_534+781delTCGATCTTTTGGGGGCAGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS4_chr1_161179302_161204054	161183467	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 NA18965.hp1 HG01168.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0014 a0001c0002t0010 a0001c0002t0014	a0001c0002t0010g0049 a0001c0002t0014g0018 a0001c0002t0010g0049 a0001c0002t0014g0018	2	374	0.0054	-19	c.76 others(30): Show c.7652_*7670delAAAAAAAAAAAAAAAAAAA	ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding		834		chr1	TogoVar
ADAMTS5_chr21_26912922_26972088	26951679	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01516.hp2 HG01517.hp1 HG01175.hp2 HG01516.hp2 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0007 a0003c0003t0002 a0003c0003t0007	a0003c0003t0002g0020 a0003c0003t0007g0269 a0003c0003t0002g0020 a0003c0003t0007g0269	3	398	0.0075	-19	c.123 others(38): Show c.1237+3041_1237+3059delTTTTTTTTTTTTTTTTTTT	ADAMTS5	ENSG00000154736.6	transcript	ENST00000284987.6	protein_coding	2/7			chr21	TogoVar
ADAMTS5_chr21_26912922_26972088	26963641	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02970.hp1 HG03486.hp2 HG01175.hp1 HG02970.hp1 HG03486.hp2	a0006 a0006	a0006c0012 a0006c0015 a0006c0012 a0006c0015	a0006c0012t0026 a0006c0012t0137 a0006c0015t0026 a0006c0012t0026 a0006c0012t0137 a0006c0015t0026	a0006c0012t0026g0299 a0006c0012t0137g0301 a0006c0015t0026g0300 a0006c0012t0026g0299 a0006c0012t0137g0301 a0006c0015t0026g0300	3	398	0.0075	-19	c.110 others(38): Show c.1104+1628_1104+1646delTTTTTTTTTTTTTTTTTTT	ADAMTS5	ENSG00000154736.6	transcript	ENST00000284987.6	protein_coding	1/7			chr21	TogoVar
ADAMTS6_chr5_65143738_65486920	65302253	TATTATAT others(12): Show TATTATATATTAATATCTAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02897.hp1 HG03098.hp1 others(1): Show HG02559.hp2 HG02897.hp1 HG03098.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013	a0001c0001t0002g0090 a0001c0001t0002g0162 a0001c0001t0004g0192 others(1): Show a0001c0001t0002g0090 a0001c0001t0002g0162 a0001c0001t0004g0192 a0001c0001t0013g0016	4	204	0.0196	-19	c.122 others(38): Show c.1224-2141_1224-2123delTTAGATATTAATATATAAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	9/24			chr5	TogoVar
ADAMTSL1_chr9_18469153_18915950	18894592	TGAATTGA others(12): Show TGAATTGAACAACTAGATAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0129 a0001c0006t0003g0129	1	218	0.0046	-19	c.485 others(38): Show c.4851+2001_4851+2019delTGAACAACTAGATAGGAAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133563905	GAGAGAGA others(12): Show GAGAGAGAGAGAGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00609.hp1 HG00621.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0017 a0001c0005 a0006c0017	a0001c0005t0002 a0006c0017t0002 a0001c0005t0002 a0006c0017t0002	a0001c0005t0002g0064 a0006c0017t0002g0031 a0001c0005t0002g0064 a0006c0017t0002g0031	2	152	0.0132	-19	c.174 others(38): Show c.1747+2611_1747+2629delAGAGAGAGAGAGGGAGAGA	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18			chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133563917	GGGAGAGA others(12): Show GGGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0070 a0001c0005t0003g0070	1	152	0.0066	-19	c.174 others(38): Show c.1747+2625_1747+2643delAGAGAGAGAGAGAGAGAGG	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL2_chr9_133529704_133580519	133563967	GAGGGAGA others(12): Show GAGGGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0055 a0001c0003t0003g0055	1	152	0.0066	-19	c.174 others(38): Show c.1747+2673_1747+2691delAGGGAGAGAGAGAGAGAGA	ADAMTSL2	ENSG00000197859.11	transcript	ENST00000651351.2	protein_coding	12/18			chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	83764568	TCTGATTC others(12): Show TCTGATTCTCAACCGAAGGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 NA18969.hp1 others(3): Show HG00544.hp1 HG00621.hp1 NA18969.hp1 NA18994.hp2 NA19009.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0199 a0001c0001t0001g0200 others(3): Show a0001c0001t0001g0159 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0215	6	274	0.0219	-19	c.190 others(36): Show c.190-8952_190-8934delGATTCTCAACCGAAGGCCT	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83906615	CCACACAC others(12): Show CCACACACCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00735.hp1 others(23): Show HG00280.hp2 HG00639.hp1 HG00735.hp1 HG01099.hp1 HG01167.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03579.hp2 HG03654.hp1 NA18612.hp2 NA18939.hp1 NA18947.hp1 NA19009.hp2 NA19043.hp1 NA19084.hp2 NA19240.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0007 a0012 a0018 a0022 a0040	a0001c0015 a0004c0004 a0005c0005 others(6): Show a0001c0015 a0004c0004 a0005c0005 a0007c0007 a0007c0025 a0012c0035 a0018c0021 a0022c0027 a0040c0052	a0001c0015t0001 a0004c0004t0001 a0005c0005t0002 others(7): Show a0001c0015t0001 a0004c0004t0001 a0005c0005t0002 a0007c0007t0001 a0007c0007t0013 a0007c0025t0014 a0012c0035t0001 a0018c0021t0001 a0022c0027t0002 a0040c0052t0002	a0001c0015t0001g0065 a0001c0015t0001g0066 a0001c0015t0001g0077 others(23): Show a0001c0015t0001g0065 a0001c0015t0001g0066 a0001c0015t0001g0077 a0004c0004t0001g0187 a0004c0004t0001g0253 a0004c0004t0001g0254 a0004c0004t0001g0257 a0004c0004t0001g0259 a0004c0004t0001g0266 a0004c0004t0001g0267 a0004c0004t0001g0268 a0005c0005t0002g0007 a0005c0005t0002g0011 a0005c0005t0002g0026 a0005c0005t0002g0027 a0005c0005t0002g0032 a0007c0007t0001g0059 a0007c0007t0001g0060 a0007c0007t0001g0061 a0007c0007t0001g0062 a0007c0007t0013g0064 a0007c0025t0014g0157 a0012c0035t0001g0127 a0018c0021t0001g0080 a0022c0027t0002g0097 a0040c0052t0002g0234	26	274	0.0949	-19	c.170 others(38): Show c.1701-6469_1701-6451delCACACACACACACACACAC	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAP1_chr7_892900_959680	905359	GGAAAGGG others(12): Show GGAAAGGGAAAGGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	14	0.0714	-19	c.389 others(34): Show c.389-206_389-188delTCCTTTCCCTTTCCCTTTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADAP1_chr7_892900_959680	943556	AAGGGAGA others(12): Show AAGGGAGAGAGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	14	0.0714	-19	c.83- others(34): Show c.83-8070_83-8052delCCCTTCCTCCTCTCTCCCT	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10			chr7	TogoVar
ADAP1_chr7_892900_959680	956666	ACCTGACT others(12): Show ACCTGACTTCACGTGATCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG03654.hp2 HG01993.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0013 a0001c0001t0001g0014	2	14	0.1429	-19	c.-22 others(30): Show c.-2208_-2190delCAGATCACGTGAAGTCAGG	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding		1987		chr7	TogoVar
ADARB1_chr21_45069580_45231560	45124769	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp2 HG02258.hp1 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0008 a0001c0003t0096 a0001c0002t0008 a0001c0003t0096	a0001c0002t0008g0036 a0001c0003t0096g0039 a0001c0002t0008g0036 a0001c0003t0096g0039	2	350	0.0057	-19	c.-21 others(38): Show c.-219-3632_-219-3614delTGTGTGTGTGTGTGTGTAT	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	1/10			chr21	TogoVar
ADARB1_chr21_45069580_45231560	45191870	ATATATAT others(12): Show ATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02886.hp2 HG03225.hp2 others(3): Show HG00438.hp1 HG02886.hp2 HG03225.hp2 HG03492.hp2 NA18950.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0063 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0063 a0001c0002t0008 a0001c0002t0088	a0001c0001t0002g0240 a0001c0001t0003g0293 a0001c0001t0003g0294 others(3): Show a0001c0001t0002g0240 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0063g0021 a0001c0002t0008g0107 a0001c0002t0088g0303	6	350	0.0171	-19	c.156 others(38): Show c.1565+6781_1565+6799delATATATATATTTTTTTTTT	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45191872	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01106.hp2 others(12): Show HG00280.hp2 HG00639.hp1 HG01106.hp2 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG02698.hp1 HG02738.hp1 HG02895.hp1 HG02965.hp1 HG03453.hp2 HG03490.hp2 NA18984.hp2 NA19054.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0047 a0001c0001t0052 a0001c0001t0057 a0001c0001t0083 a0001c0001t0084 a0001c0002t0017 a0001c0003t0060	a0001c0001t0002g0096 a0001c0001t0002g0245 a0001c0001t0002g0308 others(12): Show a0001c0001t0002g0096 a0001c0001t0002g0245 a0001c0001t0002g0308 a0001c0001t0002g0317 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0003g0309 a0001c0001t0007g0341 a0001c0001t0047g0337 a0001c0001t0052g0242 a0001c0001t0057g0257 a0001c0001t0083g0072 a0001c0001t0084g0071 a0001c0002t0017g0050 a0001c0003t0060g0069	15	350	0.0429	-19	c.156 others(38): Show c.1565+6783_1565+6801delATATATATTTTTTTTTTTT	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45191874	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00609.hp2 others(36): Show HG00408.hp1 HG00558.hp2 HG00609.hp2 HG01167.hp1 HG01257.hp1 HG01496.hp2 HG01975.hp1 HG02040.hp1 HG02083.hp2 HG02280.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 NA18747.hp1 NA18949.hp1 NA18962.hp1 NA18963.hp2 NA18970.hp1 NA18977.hp1 NA18979.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19007.hp1 NA19011.hp2 NA19055.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0031 a0001c0001t0044 a0001c0001t0053 a0001c0001t0066 a0001c0001t0067 a0001c0001t0078 a0001c0001t0092 a0001c0001t0100 a0001c0001t0110 a0001c0001t0113 a0001c0001t0115 a0001c0002t0001	a0001c0001t0002g0025 a0001c0001t0002g0264 a0001c0001t0002g0267 others(36): Show a0001c0001t0002g0025 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0277 a0001c0001t0002g0310 a0001c0001t0002g0316 a0001c0001t0003g0080 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0238 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0305 a0001c0001t0003g0314 a0001c0001t0007g0218 a0001c0001t0007g0268 a0001c0001t0010g0285 a0001c0001t0013g0333 a0001c0001t0022g0232 a0001c0001t0031g0320 a0001c0001t0044g0290 a0001c0001t0053g0288 a0001c0001t0066g0326 a0001c0001t0067g0284 a0001c0001t0078g0271 a0001c0001t0092g0321 a0001c0001t0100g0128 a0001c0001t0110g0178 a0001c0001t0113g0194 a0001c0001t0115g0124 a0001c0002t0001g0265 a0001c0002t0001g0266	39	350	0.1114	-19	c.156 others(38): Show c.1565+6785_1565+6803delATATATTTTTTTTTTTTTT	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45191876	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG01433.hp2 others(30): Show HG00673.hp2 HG01109.hp1 HG01433.hp2 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp2 HG02630.hp2 HG02723.hp1 HG02896.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18979.hp1 NA19002.hp1 NA19012.hp2 NA19043.hp1 NA19066.hp1 NA19067.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0026 a0001c0001t0103 a0001c0001t0112 a0001c0001t0123 a0001c0002t0001 a0001c0002t0027 a0001c0002t0076	a0001c0001t0002g0213 a0001c0001t0002g0233 a0001c0001t0002g0246 others(29): Show a0001c0001t0002g0213 a0001c0001t0002g0233 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0260 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0322 a0001c0001t0003g0311 a0001c0001t0003g0315 a0001c0001t0003g0324 a0001c0001t0006g0241 a0001c0001t0006g0261 a0001c0001t0006g0278 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0010g0286 a0001c0001t0010g0287 a0001c0001t0011g0270 a0001c0001t0011g0274 a0001c0001t0011g0275 a0001c0001t0014g0209 a0001c0001t0014g0215 a0001c0001t0026g0247 a0001c0001t0103g0136 a0001c0001t0112g0176 a0001c0001t0123g0189 a0001c0002t0001g0198 a0001c0002t0001g0256 a0001c0002t0027g0006 a0001c0002t0076g0081	33	350	0.0943	-19	c.156 others(38): Show c.1565+6787_1565+6805delATATTTTTTTTTTTTTTTT	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB1_chr21_45069580_45231560	45191878	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG01517.hp2 others(9): Show HG00741.hp2 HG01516.hp1 HG01517.hp2 HG02129.hp2 HG02132.hp2 HG02886.hp1 HG03710.hp1 NA18950.hp1 NA19005.hp2 NA19030.hp1 NA19079.hp1 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0002t0017 a0004c0011t0045	a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0272 others(8): Show a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0327 a0001c0001t0003g0280 a0001c0001t0007g0255 a0001c0001t0011g0276 a0001c0001t0012g0106 a0001c0002t0017g0007 a0004c0011t0045g0253	12	350	0.0343	-19	c.156 others(38): Show c.1565+6789_1565+6807delATTTTTTTTTTTTTTTTTT	ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1238184	CCTGCATC others(12): Show CCTGCATCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	106	0.0094	-19	c.136 others(38): Show c.1361+3928_1361+3946delAGTAAACACCGGGATGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1493729	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02622.hp2 others(3): Show HG00639.hp2 HG01243.hp1 HG02622.hp2 HG02886.hp1 NA18945.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0014	a0001c0001t0001 a0001c0001t0011 a0001c0007t0066 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0007t0066 a0002c0002t0007 a0002c0002t0027 a0002c0014t0008	a0001c0001t0001g0045 a0001c0001t0011g0026 a0001c0007t0066g0105 others(3): Show a0001c0001t0001g0045 a0001c0001t0011g0026 a0001c0007t0066g0105 a0002c0002t0007g0002 a0002c0002t0027g0021 a0002c0014t0008g0060	6	106	0.0566	-19	c.101 others(40): Show c.101-114588_101-114570delAAAAAAAAAAAAAAAAAAA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1566063	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0041 a0001c0007t0033g0041	1	106	0.0094	-19	c.100 others(40): Show c.100+170969_100+170987delTTTTTTTTTTTTTTTTTTT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADA_chr20_44614522_44656699	44656516	GGAAAGGG others(12): Show GGAAAGGGGAAGAAGCTGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	328	0.0031	-19	c.-49 others(30): Show c.-4928_-4910delGTCAGCTTCTTCCCCTTTC	ADA	ENSG00000196839.14	transcript	ENST00000372874.9	protein_coding		4818		chr20	TogoVar
ADCK1_chr14_77795109_77940014	77842449	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	286	0.0035	-19	c.220 others(38): Show c.220-16625_220-16607delCCTTCCTTCCTTCCTTCCT	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
ADCY10_chr1_167804386_167919134	167897543	ATATGTTG others(12): Show ATATGTTGTTGGAGATGCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00642.hp2 others(55): Show HG00099.hp1 HG00323.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03453.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18953.hp2 NA18956.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18993.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp2 NA19075.hp2 NA19078.hp2 NA19081.hp1 NA19086.hp1 NA19090.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0015 a0019	a0001c0002 a0001c0004 a0001c0005 others(12): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0015 a0001c0018 a0001c0037 a0002c0001 a0002c0006 a0002c0007 a0002c0017 a0002c0031 a0005c0013 a0015c0034 a0019c0040	a0001c0002t0002 a0001c0004t0002 a0001c0005t0001 others(18): Show a0001c0002t0002 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0010t0001 a0001c0010t0002 a0001c0015t0001 a0001c0015t0003 a0001c0018t0001 a0001c0037t0002 a0002c0001t0002 a0002c0006t0001 a0002c0007t0001 a0002c0007t0002 a0002c0017t0001 a0002c0031t0002 a0005c0013t0001 a0015c0034t0002 a0019c0040t0003	a0001c0002t0002g0261 a0001c0004t0002g0204 a0001c0004t0002g0205 others(54): Show a0001c0002t0002g0261 a0001c0004t0002g0204 a0001c0004t0002g0205 a0001c0005t0001g0219 a0001c0005t0001g0220 a0001c0005t0001g0222 a0001c0005t0001g0224 a0001c0005t0001g0256 a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0002g0002 a0001c0005t0002g0230 a0001c0005t0002g0232 a0001c0005t0002g0237 a0001c0005t0002g0240 a0001c0005t0002g0241 a0001c0005t0002g0244 a0001c0005t0002g0246 a0001c0005t0002g0247 a0001c0005t0002g0248 a0001c0005t0002g0249 a0001c0005t0002g0254 a0001c0005t0002g0318 a0001c0005t0003g0214 a0001c0005t0003g0233 a0001c0005t0004g0245 a0001c0010t0001g0221 a0001c0010t0001g0234 a0001c0010t0001g0236 a0001c0010t0001g0243 a0001c0010t0001g0250 a0001c0010t0001g0251 a0001c0010t0001g0255 a0001c0010t0002g0239 a0001c0015t0001g0026 a0001c0015t0001g0126 a0001c0015t0001g0215 a0001c0015t0003g0252 a0001c0018t0001g0203 a0001c0037t0002g0200 a0002c0001t0002g0320 a0002c0006t0001g0229 a0002c0007t0001g0223 a0002c0007t0002g0027 a0002c0007t0002g0034 a0002c0007t0002g0199 a0002c0017t0001g0238 a0002c0017t0001g0253 a0002c0017t0001g0257 a0002c0031t0002g0319 a0005c0013t0001g0216 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0225 a0005c0013t0001g0242 a0015c0034t0002g0202 a0019c0040t0003g0235	58	326	0.1779	-19	c.643 others(34): Show c.643-871_643-853delCTGCATCTCCAACAACATA	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding	6/32			chr1	TogoVar

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