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
ABAT_chr16_8669617_8789570	8733020	AGGGGGCT others(42): Show AGGGGGCTGATCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG02818.hp2 others(1): Show HG02572.hp1 HG02717.hp1 HG02818.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0002 a0001c0001t0008 a0002c0007t0007 a0001c0001t0002 a0001c0001t0008 a0002c0007t0007	a0001c0001t0002g0296 a0001c0001t0002g0352 a0001c0001t0008g0040 others(1): Show a0001c0001t0002g0296 a0001c0001t0002g0352 a0001c0001t0008g0040 a0002c0007t0007g0341	4	362	0.0111	-49	c.-41 others(66): Show c.-41-2669_-41-2621delTCCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8733030	TCCCCCCA others(42): Show TCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03195.hp1 HG03453.hp1 others(2): Show HG02895.hp2 HG03195.hp1 HG03453.hp1 HG03579.hp1 NA18973.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0018 a0001c0001 a0002c0002 a0002c0018	a0001c0001t0003 a0002c0002t0001 a0002c0002t0006 others(2): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0018t0046	a0001c0001t0003g0171 a0002c0002t0001g0297 a0002c0002t0006g0244 others(2): Show a0001c0001t0003g0171 a0002c0002t0001g0297 a0002c0002t0006g0244 a0002c0002t0007g0007 a0002c0018t0046g0336	5	362	0.0138	-49	c.-41 others(66): Show c.-41-2613_-41-2565delACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCC	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA7_chr19_1035107_1070572	1051371	TACTGAGG others(42): Show TACTGAGGTCCACGTGGGTAGGCAACCTTGCCCAAGGCTGGGTGTGACAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG02145.hp2 others(6): Show HG01071.hp2 HG02071.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02970.hp2 HG03688.hp1 HG03688.hp2	a0003 a0005 a0006 others(5): Show a0003 a0005 a0006 a0007 a0014 a0015 a0017 a0019	a0003c0005 a0005c0022 a0006c0020 others(5): Show a0003c0005 a0005c0022 a0006c0020 a0007c0021 a0014c0019 a0015c0018 a0017c0017 a0019c0012	a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 others(5): Show a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001 a0014c0019t0002 a0015c0018t0001 a0017c0017t0001 a0019c0012t0001	a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 others(6): Show a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001 a0014c0019t0002g0029 a0015c0018t0001g0028 a0017c0017t0001g0027 a0019c0012t0001g0026	9	30	0.3000	-49	c.282 others(64): Show c.2825-67_2825-19delACGTGGGTAGGCAACCTTGCCCAAGGCTGG GTGTGACACACTGAGGTCC	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	20/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC2_chr10_99777640_99857594	99838334	CCCCCCCC others(42): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0109 a0001c0002t0002g0109	1	336	0.0030	-49	c.361 others(68): Show c.3614+2133_3614+2181delGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99838687	CCCCCCCA others(42): Show CCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19074.hp2 NA19060.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0271 a0001c0001t0008g0292 a0001c0001t0001g0271 a0001c0001t0008g0292	2	336	0.0060	-49	c.361 others(68): Show c.3614+2418_3614+2466delTGGCACGGCTGGCCGGGCGGGGGGGC TGACCCCCCACCTCCCTCCCGGA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABHD6_chr3_58232792_58299734	58289970	AGGCGGCT others(42): Show AGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	302	0.0033	-49	c.838 others(66): Show c.838-3592_838-3544delCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGAC	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABHD6_chr3_58232792_58299734	58289998	CCCCCACC others(42): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACAT	C C	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	302	0.0033	-49	c.838 others(66): Show c.838-3554_838-3506delGGGGGGCTGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABL2_chr1_179094330_179234677	179135743	TGCCCGGC others(42): Show TGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0049 a0001c0003t0049	a0001c0003t0049g0014 a0001c0003t0049g0014	1	350	0.0029	-49	c.158 others(66): Show c.158-2418_158-2370delGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCAGCTGGCCGGGC	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABR_chr17_998519_1184981	1048541	TGGGCCAC others(42): Show TGGGCCACGGTCAAGAAGCTCGGCGCCCAGCTGCGCCTGGATCACGTCCG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01928.hp2 others(5): Show HG01175.hp1 HG01192.hp1 HG01928.hp2 HG01978.hp2 HG02074.hp1 HG02132.hp2 HG02273.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0032 a0001c0001t0076 a0001c0001t0082	a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 others(5): Show a0001c0001t0003g0222 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0318 a0001c0001t0007g0325 a0001c0001t0032g0259 a0001c0001t0076g0171 a0001c0001t0082g0302	8	337	0.0237	-49	c.179 others(68): Show c.1791+1460_1791+1508delCGGACGTGATCCAGGCGCAGCTGGGC GCCGAGCTTCTTGACCGTGGCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1048685	CTCCGGGG others(42): Show CTCCGGGGCCACGGTCAAGAAGCTCGGCGCCCAGCTGCGCCTGGATCACG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0102 a0001c0009t0018g0102	1	337	0.0030	-49	c.179 others(68): Show c.1791+1316_1791+1364delCGTGATCCAGGCGCAGCTGGGCGCCG AGCTTCTTGACCGTGGCCCCGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1069779	AGGACCCC others(42): Show AGGACCCCCTCCCCCGCCCCTGGACTCACACACTCACCTCGCAGAGGTCC	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	337	0.0030	-49	c.101 others(66): Show c.1016+141_1016+189delGGACCTCTGCGAGGTGAGTGTGTGAGTC CAGGGGCGGGGGAGGGGGTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	9/22			chr17	TogoVar
ABR_chr17_998519_1184981	1162706	TGGCTCAC others(42): Show TGGCTCACACCTGTCATCCCAGCACTTTGAAAGGCTAGGCCAAGCACCCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	337	0.0030	-49	c.61+ others(66): Show c.61+16912_61+16960delGGGGTGCTTGGCCTAGCCTTTCAAAGTG CTGGGATGACAGGTGTGAGCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469960	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	186	0.0054	-49	c.113 others(70): Show c.1136-50524_1136-50476delTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111723155	ACCTCCCT others(42): Show ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0323 a0002c0003t0003g0323	1	336	0.0030	-49	c.106 others(68): Show c.1061+1447_1061+1495delTGGGGGGCTGACCCCCCCTCCTCCCT CCCGGACGGGGCGGCTGGCCGGG	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111723314	GGGGGGGC others(42): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGTCCAGGC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	336	0.0030	-49	c.106 others(68): Show c.1061+1604_1061+1652delAGACGGGGCGGCTGTCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCC	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289798	CTCCGTCC others(42): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	295	0.0034	-49	c.37 others(60): Show c.3717_*3765delCACGGGACGGGGCAGAGACACGGGGGACGGAGCA GAGACACGGGACGGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2592		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289837	CCCGTCCC others(42): Show CCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	295	0.0034	-49	c.36 others(60): Show c.3678_*3726delAGCAGAGACACGGGACGGAGCAGAGACTCGGGGG ACGGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2553		chr1	TogoVar
ACER2_chr9_19404009_19457505	19427984	TTTTCCTT others(42): Show TTTTCCTTTCCTTTCCTTTTTCCTTTTTCCTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00597.hp2 others(50): Show HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG01168.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02027.hp2 HG02083.hp1 HG02738.hp1 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03239.hp2 HG03453.hp1 HG03654.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18961.hp1 NA18962.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18988.hp2 NA18993.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19055.hp2 NA19062.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0007 a0001c0001 a0001c0003 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0021 a0001c0001t0027 a0001c0003t0005 a0001c0003t0010 a0006c0007t0012	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(44): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0044 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0060 a0001c0001t0007g0041 a0001c0001t0007g0045 a0001c0001t0007g0055 a0001c0001t0013g0112 a0001c0001t0021g0050 a0001c0001t0027g0038 a0001c0003t0005g0102 a0001c0003t0010g0311 a0001c0003t0010g0312 a0001c0003t0010g0315 a0006c0007t0012g0054	53	358	0.1480	-49	c.365 others(66): Show c.365+3162_365+3210delTTCCTTTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACKR2_chr3_42804445_42872286	42819460	AGCTGGGC others(42): Show AGCTGGGCTCCCTCACTGTTTCCTGGCTCTTTCCAGTAGAAAAGAGCTGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp2 HG03041.hp2 others(4): Show HG02451.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0009 a0004c0005t0009 a0002c0002t0009 a0004c0005t0009	a0002c0002t0009g0010 a0002c0002t0009g0091 a0002c0002t0009g0204 others(3): Show a0002c0002t0009g0010 a0002c0002t0009g0091 a0002c0002t0009g0204 a0002c0002t0009g0205 a0004c0005t0009g0018 a0004c0005t0009g0019	7	342	0.0205	-49	c.-11 others(66): Show c.-118-167_-118-119delGGGCTCCCTCACTGTTTCCTGGCTCTTT CCAGTAGAAAAGAGCTGGGCT	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACLY_chr17_41861918_41923951	41876242	TGGGGGTC others(42): Show TGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG03579.hp2 others(6): Show HG02451.hp1 HG02486.hp1 HG03579.hp2 NA18943.hp2 NA18952.hp1 NA18985.hp1 NA18998.hp2 NA19003.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0003 a0001c0003t0001 a0002c0002t0003	a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0254 others(6): Show a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0254 a0002c0002t0003g0263 a0002c0002t0003g0265 a0002c0002t0003g0270 a0002c0002t0003g0273 a0002c0002t0003g0275 a0002c0002t0003g0286	9	294	0.0306	-49	c.248 others(68): Show c.2487+1812_2487+1860delCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCC	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	22/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834847	GGGAGGGA others(42): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA18966.hp2 NA19003.hp2 HG04184.hp1 NA18966.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0199 a0001c0001t0001g0347 a0001c0001t0001g0172 a0001c0001t0001g0199 a0001c0001t0001g0347	3	382	0.0079	-49	c.-38 others(60): Show c.-3835_-3787delGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3768		chr2	TogoVar
ACSF3_chr16_89088852_89161233	89147475	GGAGGGTC others(42): Show GGAGGGTCCACAGAGTGAGTGAGGGAGGAGGGAGGGGTCACAGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG02886.hp2 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0029 a0002c0003t0005g0030 a0002c0003t0005g0029 a0002c0003t0005g0030	2	368	0.0054	-49	c.161 others(68): Show c.1613+1428_1613+1476delAGGGTCCACAGAGTGAGTGAGGGAGG AGGGAGGGGTCACAGAGTGAGCG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTG2_chr2_73888008_73924865	73901533	TGTGTGTG others(42): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00733.hp1 others(51): Show HG00280.hp2 HG00438.hp1 HG00733.hp1 HG00735.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02071.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp1 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18940.hp2 NA18955.hp2 NA18964.hp2 NA18991.hp2 NA18998.hp2 NA19000.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19078.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009	a0001c0001t0001g0126 a0001c0001t0001g0315 a0001c0001t0001g0353 others(48): Show a0001c0001t0001g0126 a0001c0001t0001g0315 a0001c0001t0001g0353 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0362 a0001c0001t0003g0179 a0001c0001t0003g0345 a0001c0001t0005g0013 a0001c0001t0005g0028 a0001c0001t0005g0178 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0369 a0001c0001t0005g0391 a0001c0001t0005g0392 a0001c0001t0007g0032 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0085 a0001c0002t0001g0095 a0001c0002t0001g0106 a0001c0002t0001g0177 a0001c0002t0001g0180 a0001c0002t0001g0223 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0258 a0001c0002t0001g0263 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0296 a0001c0002t0001g0331 a0001c0002t0001g0385 a0001c0002t0001g0397 a0001c0002t0002g0219 a0001c0002t0003g0037 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0062 a0001c0002t0003g0072 a0001c0002t0003g0083 a0001c0002t0003g0102 a0001c0002t0003g0104 a0001c0002t0003g0228 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0354 a0001c0002t0003g0361 a0001c0002t0009g0387	54	416	0.1298	-49	c.126 others(63): Show c.126+97_126+145delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTC	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8			chr2	TogoVar
ACTN2_chr1_236681499_236769631	236755820	AATAGAGT others(42): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	344	0.0029	-49	c.215 others(66): Show c.2154+666_2154+714delGTGGTTATAGAGTATATACTGCAGAGTG CCCGCTGCCACTGTTAGAACC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756394	GTTAGAAC others(42): Show GTTAGAACCCTGGTTATAGAGTATGTACTGCAGAGTGCCCGCTGCCACCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(31): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00642.hp1 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01169.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp2 NA18952.hp2 NA18955.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp1 NA20300.hp2 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0001c0011 others(1): Show a0001c0001 a0001c0007 a0001c0011 a0006c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0007t0015 a0001c0011t0005 a0006c0022t0001	a0001c0001t0001g0005 a0001c0001t0001g0157 a0001c0001t0001g0211 others(31): Show a0001c0001t0001g0005 a0001c0001t0001g0157 a0001c0001t0001g0211 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0308 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0328 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0003g0020 a0001c0001t0004g0075 a0001c0001t0004g0200 a0001c0001t0009g0073 a0001c0001t0009g0091 a0001c0001t0009g0118 a0001c0001t0009g0152 a0001c0001t0009g0187 a0001c0001t0012g0019 a0001c0001t0012g0109 a0001c0001t0014g0082 a0001c0001t0014g0084 a0001c0001t0014g0086 a0001c0001t0015g0116 a0001c0007t0015g0096 a0001c0011t0005g0100 a0006c0022t0001g0203	34	344	0.0988	-49	c.215 others(68): Show c.2155-1078_2155-1030delTATAGAGTATGTACTGCAGAGTGCCC GCTGCCACCATTAGAACCCTGGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756604	AATAGAGT others(42): Show AATAGAGTATATACTGCAGAGTGCCCGCTGCCACCGTTAGAACCCTGGTT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18953.hp2 NA19063.hp1 NA18939.hp2 NA18953.hp2 NA19063.hp1	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0004 a0002c0008t0004 a0002c0005t0004 a0002c0008t0004	a0002c0005t0004g0297 a0002c0008t0004g0025 a0002c0008t0004g0168 a0002c0005t0004g0297 a0002c0008t0004g0025 a0002c0008t0004g0168	3	344	0.0087	-49	c.215 others(66): Show c.2155-833_2155-785delTATAGAGTATATACTGCAGAGTGCCCGC TGCCACCGTTAGAACCCTGGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236757109	GCAGAGGG others(42): Show GCAGAGGGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACTA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03516.hp1 HG01192.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0032 a0001c0001 a0004c0032	a0001c0001t0017 a0004c0032t0017 a0001c0001t0017 a0004c0032t0017	a0001c0001t0017g0097 a0004c0032t0017g0094 a0001c0001t0017g0097 a0004c0032t0017g0094	2	344	0.0058	-49	c.215 others(66): Show c.2155-371_2155-323delGGCCCGCTGCCACCGTTAGAACCCTGGT TATAGAGTATATACTACAGAG	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236757115	GGCCCGCT others(42): Show GGCCCGCTGCCACCGTTAGAACCCTGGTTATAGAGTATATACTACAGAGT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 HG02083.hp2 others(12): Show HG02015.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 NA18939.hp2 NA18953.hp2 NA18979.hp2 NA18983.hp1 NA18993.hp2 NA19000.hp1 NA19010.hp1 NA19063.hp1 NA19072.hp2 NA19082.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0019 a0002c0005 a0002c0008 a0002c0019	a0002c0005t0004 a0002c0008t0004 a0002c0019t0004 a0002c0005t0004 a0002c0008t0004 a0002c0019t0004	a0002c0005t0004g0008 a0002c0005t0004g0009 a0002c0005t0004g0035 others(12): Show a0002c0005t0004g0008 a0002c0005t0004g0009 a0002c0005t0004g0035 a0002c0005t0004g0256 a0002c0005t0004g0257 a0002c0005t0004g0294 a0002c0005t0004g0297 a0002c0005t0004g0305 a0002c0005t0004g0306 a0002c0008t0004g0025 a0002c0008t0004g0027 a0002c0008t0004g0168 a0002c0008t0004g0277 a0002c0008t0004g0296 a0002c0019t0004g0002	15	344	0.0436	-49	c.215 others(66): Show c.2155-358_2155-310delCGTTAGAACCCTGGTTATAGAGTATATA CTACAGAGTGCCCGCTGCCAC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70687291	ACCCCCAC others(42): Show ACCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGGCCGACC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(91): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19082.hp1 NA19084.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0019 a0024 a0025 a0027 a0028 a0031 a0032	a0001c0002 a0001c0004 a0001c0005 others(24): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0017 a0001c0018 a0001c0025 a0001c0035 a0001c0039 a0001c0063 a0001c0083 a0002c0001 a0003c0003 a0003c0028 a0003c0074 a0004c0006 a0004c0061 a0005c0008 a0007c0013 a0019c0044 a0024c0065 a0025c0066 a0027c0086 a0028c0085 a0031c0045 a0032c0097	a0001c0002t0002 a0001c0004t0003 a0001c0004t0057 others(32): Show a0001c0002t0002 a0001c0004t0003 a0001c0004t0057 a0001c0005t0006 a0001c0005t0026 a0001c0007t0002 a0001c0007t0014 a0001c0007t0023 a0001c0012t0003 a0001c0017t0004 a0001c0018t0032 a0001c0025t0010 a0001c0035t0002 a0001c0039t0027 a0001c0063t0003 a0001c0083t0002 a0002c0001t0001 a0002c0001t0022 a0003c0003t0004 a0003c0003t0006 a0003c0003t0010 a0003c0003t0028 a0003c0028t0002 a0003c0074t0003 a0004c0006t0004 a0004c0061t0004 a0005c0008t0056 a0007c0013t0001 a0019c0044t0003 a0024c0065t0061 a0025c0066t0002 a0027c0086t0006 a0028c0085t0002 a0031c0045t0001 a0032c0097t0020	a0001c0002t0002g0116 a0001c0002t0002g0130 a0001c0002t0002g0131 others(90): Show a0001c0002t0002g0116 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0154 a0001c0002t0002g0167 a0001c0002t0002g0170 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0230 a0001c0002t0002g0249 a0001c0004t0003g0129 a0001c0004t0003g0134 a0001c0004t0003g0138 a0001c0004t0003g0163 a0001c0004t0003g0165 a0001c0004t0003g0166 a0001c0004t0003g0186 a0001c0004t0003g0224 a0001c0004t0057g0310 a0001c0005t0006g0325 a0001c0005t0026g0069 a0001c0007t0002g0168 a0001c0007t0002g0246 a0001c0007t0014g0140 a0001c0007t0023g0132 a0001c0012t0003g0102 a0001c0012t0003g0114 a0001c0012t0003g0228 a0001c0012t0003g0229 a0001c0017t0004g0143 a0001c0017t0004g0331 a0001c0018t0032g0101 a0001c0025t0010g0155 a0001c0035t0002g0182 a0001c0039t0027g0033 a0001c0063t0003g0269 a0001c0083t0002g0178 a0002c0001t0001g0100 a0002c0001t0001g0103 a0002c0001t0001g0128 a0002c0001t0001g0133 a0002c0001t0001g0146 a0002c0001t0001g0148 a0002c0001t0001g0152 a0002c0001t0001g0161 a0002c0001t0001g0169 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0223 a0002c0001t0001g0227 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0270 a0002c0001t0001g0283 a0002c0001t0022g0183 a0003c0003t0004g0125 a0003c0003t0006g0001 a0003c0003t0006g0096 a0003c0003t0006g0136 a0003c0003t0006g0137 a0003c0003t0006g0139 a0003c0003t0006g0141 a0003c0003t0006g0142 a0003c0003t0006g0150 a0003c0003t0006g0158 a0003c0003t0006g0172 a0003c0003t0010g0144 a0003c0003t0028g0073 a0003c0028t0002g0135 a0003c0074t0003g0156 a0004c0006t0004g0157 a0004c0006t0004g0159 a0004c0006t0004g0181 a0004c0061t0004g0171 a0005c0008t0056g0160 a0007c0013t0001g0153 a0019c0044t0003g0302 a0019c0044t0003g0303 a0024c0065t0061g0264 a0025c0066t0002g0164 a0027c0086t0006g0126 a0028c0085t0002g0127 a0031c0045t0001g0162 a0032c0097t0020g0058	94	354	0.2655	-49	c.522 others(68): Show c.522+12312_522+12360delTGGACAGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCC	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179224804	CCAGGTCT others(42): Show CCAGGTCTGTCTGCCACCTCAGCTCCACGCCCAGACCAAAGCTGTGTCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02630.hp2 HG01243.hp2 HG02258.hp2 HG02630.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0004 a0019c0083 a0001c0001 a0001c0004 a0019c0083	a0001c0001t0013 a0001c0004t0004 a0019c0083t0001 a0001c0001t0013 a0001c0004t0004 a0019c0083t0001	a0001c0001t0013g0021 a0001c0004t0004g0187 a0019c0083t0001g0199 a0001c0001t0013g0021 a0001c0004t0004g0187 a0019c0083t0001g0199	3	276	0.0109	-49	c.689 others(68): Show c.689-17138_689-17090delAGGACACAGCTTTGGTCTGGGCGTGG AGCTGAGGTGGCAGACAGACCTG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72382239	AAATTATA others(42): Show AAATTATATCTAATGACTACATAGTAGTCATGGATATAATTATGTCATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0009 a0001c0015t0009	a0001c0015t0009g0086 a0001c0015t0009g0086	1	182	0.0055	-49	c.661 others(68): Show c.661+32527_661+32575delATATGACATAATTATATCCATGACTA CTATGTAGTCATTAGATATAATT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1236748	TCTGCCTC others(42): Show TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0084 a0002c0002t0004g0084	1	106	0.0094	-49	c.136 others(68): Show c.1362-2952_1362-2904delGGGGGGAGTAAACACCGGGAGGCAGA GGGGAGTAAACACCGGGAGGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1236775	GCCTCCCG others(42): Show GCCTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0014 a0005c0015t0014	a0005c0015t0014g0008 a0005c0015t0014g0008	1	106	0.0094	-49	c.136 others(68): Show c.1362-2979_1362-2931delGAGAGGGGAGTAAACACCGGGAGGCA GGGGGGGAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237228	TCTGCCTC others(42): Show TCTGCCTCCCGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0061 a0002c0002t0042g0061	1	106	0.0094	-49	c.136 others(68): Show c.1362-3432_1362-3384delGGGGGAGTAAACACCGGGAGGGCAGA GGGGAGTAAACACCGGGAGGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237949	TCTGCCTC others(42): Show TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0089 a0001c0001t0055g0089	1	106	0.0094	-49	c.136 others(68): Show c.1361+4133_1362-4105delGGGGGGAGTAAACACCGGGAGGCAGA GGGGAGTAAACACCGGGAGGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240028	TCCCCCCT others(42): Show TCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02735.hp2 HG02080.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0066 a0002c0002t0004g0095 a0002c0002t0002g0066 a0002c0002t0004g0095	2	106	0.0189	-49	c.136 others(68): Show c.1361+2054_1361+2102delGAGTAAACACCGGGAGGCAGAGGGGA GTAAACACCGGGAGGGAGGGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240133	CCCTCCCG others(42): Show CCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG02630.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0033 a0002c0002t0021 a0001c0007t0033 a0002c0002t0021	a0001c0007t0033g0041 a0002c0002t0021g0035 a0001c0007t0033g0041 a0002c0002t0021g0035	2	106	0.0189	-49	c.136 others(68): Show c.1361+1949_1361+1997delCAGAGGGGAGTAAACACCGGGAGGCA GAGGGGGAGTAAACACCGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1505660	ACCTCCCC others(42): Show ACCTCCCCATGCCCGTGGTTCTGCCACTTCCGTCCCCACCGTGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp2 HG02027.hp2 others(15): Show HG00438.hp2 HG01934.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02257.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02970.hp2 HG03540.hp1 NA18522.hp1 NA18982.hp1 NA18989.hp1 NA18998.hp2 NA19043.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0008c0013	a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 others(14): Show a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0001t0029 a0001c0001t0035 a0001c0001t0055 a0001c0001t0056 a0001c0003t0001 a0001c0003t0045 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0043 a0002c0002t0053 a0002c0002t0063 a0003c0006t0067 a0008c0013t0020	a0001c0001t0013g0007 a0001c0001t0018g0027 a0001c0001t0023g0023 others(15): Show a0001c0001t0013g0007 a0001c0001t0018g0027 a0001c0001t0023g0023 a0001c0001t0029g0031 a0001c0001t0035g0079 a0001c0001t0055g0089 a0001c0001t0056g0081 a0001c0003t0001g0052 a0001c0003t0045g0057 a0002c0002t0002g0043 a0002c0002t0002g0067 a0002c0002t0004g0095 a0002c0002t0005g0033 a0002c0002t0043g0053 a0002c0002t0053g0106 a0002c0002t0063g0091 a0003c0006t0067g0080 a0008c0013t0020g0037	18	106	0.1698	-49	c.101 others(70): Show c.101-126549_101-126501delCGGCTGCCACGGTGGGGACGGAAG TGGCAGAACCACGGGCATGGGGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1530832	TCAGCACT others(42): Show TCAGCACTCAGGTCTCAGCACTCAGCACTCAGGTCTCAGCACTCAGCACC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp2 HG02602.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0066 a0002c0002t0004g0101 a0002c0002t0002g0066 a0002c0002t0004g0101	2	106	0.0189	-49	c.101 others(70): Show c.101-151721_101-151673delGGTGCTGAGTGCTGAGACCTGAGT GCTGAGTGCTGAGACCTGAGTGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541488	TCACAGCC others(42): Show TCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(38): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG01243.hp2 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02258.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02886.hp2 HG03017.hp1 HG03669.hp2 HG04184.hp1 NA18945.hp1 NA18945.hp2 NA18967.hp1 NA18967.hp2 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19070.hp1 NA19086.hp1 NA19086.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0005c0015 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0003t0001 a0001c0003t0060 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0004t0005 a0002c0016t0006 a0003c0006t0067 a0005c0015t0014 a0006c0012t0007	a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 others(38): Show a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0011g0017 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0054g0083 a0001c0001t0055g0089 a0001c0001t0056g0081 a0001c0001t0058g0099 a0001c0003t0001g0070 a0001c0003t0060g0104 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0005g0028 a0002c0002t0006g0011 a0002c0002t0006g0019 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0058 a0002c0002t0041g0074 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0062g0093 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0004t0005g0029 a0002c0016t0006g0010 a0003c0006t0067g0080 a0005c0015t0014g0008 a0006c0012t0007g0006	41	106	0.3868	-49	c.101 others(70): Show c.101-162377_101-162329delCTGTGATCCAGGGTCCGAACTGCG TCTGAGTGGGGTCTGGACGGCTGTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1542661	TCACAGCC others(42): Show TCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0029 a0002c0004t0005g0029	1	106	0.0094	-49	c.101 others(70): Show c.101-163550_101-163502delCTGTGATCCAGGGTCCGAACTGCG TCTGAGTGGGGTCTGGACGGCTGTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1672002	GGCAGAGC others(42): Show GGCAGAGCCCTACCCCATCCCCGAGAGTCAGTGTGTGAGGTGGGCATCAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp2 HG02717.hp2 others(7): Show HG00408.hp2 HG02027.hp2 HG02717.hp2 HG02735.hp1 HG03098.hp2 NA18967.hp2 NA18982.hp2 NA18989.hp2 NA18995.hp1 NA18998.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0011c0008	a0001c0001t0003 a0001c0001t0036 a0001c0001t0055 others(6): Show a0001c0001t0003 a0001c0001t0036 a0001c0001t0055 a0001c0001t0059 a0001c0003t0039 a0002c0002t0004 a0002c0002t0007 a0002c0002t0062 a0011c0008t0016	a0001c0001t0003g0085 a0001c0001t0003g0098 a0001c0001t0036g0072 others(7): Show a0001c0001t0003g0085 a0001c0001t0003g0098 a0001c0001t0036g0072 a0001c0001t0055g0089 a0001c0001t0059g0092 a0001c0003t0039g0044 a0002c0002t0004g0082 a0002c0002t0007g0001 a0002c0002t0062g0093 a0011c0008t0016g0003	10	106	0.0943	-49	c.100 others(68): Show c.100+65000_100+65048delTTGATGCCCACCTCACACACTGACTC TCGGGGATGGGGTAGGGCTCTGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	130996672	TCCCTCCC others(42): Show TCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0003 a0003c0031t0003	a0003c0031t0003g0089 a0003c0031t0003g0089	1	242	0.0041	-49	c.967 others(66): Show c.967-3703_967-3655delAGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCACCCTCCC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131039171	TCCTGTGC others(42): Show TCCTGTGCTCCTCCAGCCACTGCCCACTGAGCCGGGACGGTGCGGAGAGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01069.hp2 others(19): Show HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp2 HG01981.hp2 HG02109.hp1 HG02257.hp2 HG02293.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03710.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0019 a0002c0018 a0002c0044 a0003c0012 a0003c0031 a0005c0011 a0005c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0003t0001 a0001c0003t0006 a0001c0003t0013 a0001c0003t0018 a0001c0004t0002 a0001c0007t0004 a0001c0019t0004 a0002c0018t0020 a0002c0044t0007 a0003c0012t0017 a0003c0031t0003 a0005c0011t0002 a0005c0021t0021	a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0208 others(19): Show a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0208 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0015g0097 a0001c0003t0001g0152 a0001c0003t0006g0019 a0001c0003t0013g0129 a0001c0003t0018g0232 a0001c0004t0002g0164 a0001c0007t0004g0102 a0001c0019t0004g0230 a0002c0018t0020g0123 a0002c0018t0020g0124 a0002c0044t0007g0126 a0003c0012t0017g0158 a0003c0031t0003g0089 a0005c0011t0002g0110 a0005c0021t0021g0048	22	242	0.0909	-49	c.147 others(70): Show c.1473+24856_1473+24904delACTGAGCCGGGACGGTGCGGAGAG CCCTGTGCTCCTCCAGCCACTGCCC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADORA2B_chr17_15940130_15980746	15979819	ACGGGGGG others(42): Show ACGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01516.hp2 HG01517.hp2 others(8): Show HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG02258.hp1 HG02622.hp1 HG02922.hp2 HG02965.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0026 a0001c0001t0001g0122 a0001c0001t0001g0177 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0122 a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0262 a0001c0001t0004g0272 a0001c0001t0004g0279	11	346	0.0318	-49	c.44 others(60): Show c.4478_*4526delCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGG	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		4074		chr17	TogoVar
ADSS1_chr14_104719229_104752310	104729667	GGGGAGGA others(42): Show GGGGAGGAGCGTGGCGTCGGCGTCGTGGGGAGGAGCGTGGCGTCGGCGTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02559.hp2 HG03710.hp2 others(4): Show HG00639.hp2 HG02559.hp2 HG03710.hp2 HG03831.hp1 NA18970.hp2 NA19043.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0146 a0001c0001t0001g0183 a0001c0001t0001g0186 others(4): Show a0001c0001t0001g0146 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0002g0188 a0001c0002t0001g0211 a0001c0002t0001g0215	7	402	0.0174	-49	c.192 others(66): Show c.192+5256_193-5254delGGAGGAGCGTGGCGTCGGCGTCGTGGGG AGGAGCGTGGCGTCGGCGTCG	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
AGAP1_chr2_235489043_236136793	235571964	ATATATAT others(42): Show ATATATATGTATACACACACACACACACACACACACACACTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0057 a0001c0005t0001g0057	1	98	0.0102	-49	c.163 others(68): Show c.163+77117_163+77165delATATATGTATACACACACACACACAC ACACACACACACTTTTTTTTTTT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235592278	AGAAGGAG others(42): Show AGAAGGAGGAGTAGATGAGCCATGTTCTGGGGGGCAGTGAGCAGGATGGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG02717.hp1 others(2): Show HG02109.hp2 HG02622.hp1 HG02717.hp1 HG03516.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0044 a0002c0013t0041	a0001c0001t0005g0007 a0001c0001t0007g0008 a0001c0001t0011g0020 others(2): Show a0001c0001t0005g0007 a0001c0001t0007g0008 a0001c0001t0011g0020 a0001c0001t0044g0041 a0002c0013t0041g0081	5	98	0.0510	-49	c.163 others(68): Show c.163+97535_163+97583delGAGTAGATGAGCCATGTTCTGGGGGG CAGTGAGCAGGATGGTGAAGGAG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86633782	GTGTATAT others(42): Show GTGTATATATATATAATGTATATATATATAATGTATGTATATATATATAA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04204.hp2 HG02738.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0018 a0001c0006 a0002c0018	a0001c0006t0002 a0002c0018t0007 a0001c0006t0002 a0002c0018t0007	a0001c0006t0002g0051 a0002c0018t0007g0037 a0001c0006t0002g0051 a0002c0018t0007g0037	2	132	0.0152	-49	c.299 others(70): Show c.2995-40461_2995-40413delATGTATGTATATATATATAATGTA TATATATATAATGTATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86633816	ATGTATAT others(42): Show ATGTATATATATATAATGTATATATATATAATGTATATATATATATAATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG01243.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0001 a0001c0002t0016g0004 a0001c0002t0016g0001 a0001c0002t0016g0004	2	132	0.0152	-49	c.299 others(70): Show c.2995-40455_2995-40407delGTATATATATATAATGTATATATA TATAATGTATATATATATATAATGT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar

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Search Results (Total: 1443 hits)