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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
A2ML1_chr12_8817621_8881787	8840978	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18969.hp2 NA19054.hp1 others(1): Show HG02622.hp2 NA18969.hp2 NA19054.hp1 NA20752.hp2	a0002 a0003 a0026 a0002 a0003 a0026	a0002c0004 a0003c0005 a0026c0056 a0002c0004 a0003c0005 a0026c0056	a0002c0004t0003 a0003c0005t0003 a0026c0056t0003 a0002c0004t0003 a0003c0005t0003 a0026c0056t0003	a0002c0004t0003g0144 a0002c0004t0003g0183 a0003c0005t0003g0095 others(1): Show a0002c0004t0003g0144 a0002c0004t0003g0183 a0003c0005t0003g0095 a0026c0056t0003g0133	4	368	0.0109	28	c.108 others(45): Show c.1081-384_1081-357dupAGGAAGGAAGGAAGGAAGGAAGGAAGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp2 others(22): Show HG00544.hp2 HG00558.hp1 HG00597.hp2 HG01109.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp2 HG01928.hp2 HG01993.hp2 HG02040.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp2 HG04115.hp1 NA18941.hp2 NA18974.hp2 NA19004.hp2 NA19010.hp1 NA19030.hp1 NA19077.hp2 NA19088.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0013 a0021 a0023 a0041	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0046 a0002c0003 a0002c0004 a0002c0007 a0002c0017 a0003c0023 a0013c0021 a0021c0031 a0023c0033 a0041c0059	a0001c0001t0001 a0001c0002t0002 a0001c0006t0002 others(11): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0002 a0001c0046t0001 a0002c0003t0001 a0002c0003t0004 a0002c0004t0003 a0002c0007t0003 a0002c0017t0003 a0003c0023t0003 a0013c0021t0002 a0021c0031t0003 a0023c0033t0001 a0041c0059t0002	a0001c0001t0001g0140 a0001c0001t0001g0176 a0001c0001t0001g0181 others(21): Show a0001c0001t0001g0140 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0216 a0001c0001t0001g0280 a0001c0002t0002g0062 a0001c0002t0002g0204 a0001c0006t0002g0325 a0001c0046t0001g0236 a0002c0003t0001g0060 a0002c0003t0004g0355 a0002c0004t0003g0067 a0002c0004t0003g0069 a0002c0007t0003g0320 a0002c0017t0003g0233 a0003c0023t0003g0256 a0013c0021t0002g0117 a0013c0021t0002g0196 a0021c0031t0003g0199 a0023c0033t0001g0006 a0041c0059t0002g0335	25	368	0.0679	28	c.108 others(45): Show c.1081-357_1081-356insAGGAAGGAAGGAAGGAAGGAAGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGACGGAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0002 a0001c0068t0002	a0001c0068t0002g0333 a0001c0068t0002g0333	1	368	0.0027	28	c.108 others(45): Show c.1081-357_1081-356insAGGAAGGAAGGAAGGAAGGACGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03540.hp2 HG02083.hp2 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0004c0005t0010 a0001c0001t0002 a0004c0005t0010	a0001c0001t0002g0323 a0004c0005t0010g0281 a0001c0001t0002g0323 a0004c0005t0010g0281	2	406	0.0049	28	c.-18 others(47): Show c.-187-7503_-187-7476dupCACACACACACACACACACACACACA CA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01928.hp1 HG01943.hp1 others(19): Show HG00408.hp1 HG01928.hp1 HG01943.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18946.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18983.hp2 NA18986.hp1 NA19009.hp1 NA19060.hp1 NA19070.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0005 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0006 a0002c0003t0004	a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0114 others(19): Show a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0184 a0001c0001t0002g0218 a0001c0002t0005g0100 a0001c0002t0005g0128 a0001c0002t0005g0198 a0001c0002t0005g0202 a0001c0002t0006g0215 a0002c0003t0004g0134	22	406	0.0542	28	c.-18 others(49): Show c.-188+12224_-188+12251dupCTTCCTTCCTTCCTTCCTTCCTTC CTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
AADACL2_chr3_151728927_151766339	151731938	G G	GAGATAGA others(21): Show GAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01361.hp1 HG02071.hp1 others(10): Show HG00438.hp1 HG01361.hp1 HG02071.hp1 HG02129.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18983.hp2 NA19066.hp1 NA19076.hp1 NA19086.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0021 a0001c0001t0048	a0001c0001t0001g0015 a0001c0001t0001g0137 a0001c0001t0003g0002 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0137 a0001c0001t0003g0002 a0001c0001t0003g0036 a0001c0001t0008g0002 a0001c0001t0013g0002 a0001c0001t0021g0002 a0001c0001t0021g0057 a0001c0001t0048g0060	13	428	0.0304	28	c.-20 others(39): Show c.-2098_-2097insAGATAGATAGATAGATAGATAGATAGAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1988		chr3	TogoVar
AADACL4_chr1_12639085_12672076	12648388	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0050 a0001c0002t0012g0050	1	310	0.0032	28	c.169 others(45): Show c.169-2732_169-2731insCCTTCCTTCCTTCCTTCCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADAT_chr4_170055222_170094956	170056457	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	378	0.0027	28	c.44 others(39): Show c.4470_*4471insGTATATATATATATATATATATATATAT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3764		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG04115.hp1 HG01496.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0140 a0002c0002t0003g0239 a0002c0002t0003g0140 a0002c0002t0003g0239	2	380	0.0053	28	c.535 others(45): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AARS1_chr16_70247298_70294506	70272889	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18999.hp1 NA18941.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0012 a0001c0001t0001g0028	2	362	0.0055	28	c.480 others(43): Show c.480-945_480-918dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARS2_chr6_44293731_44318347	44299737	C C	CATGGTAT others(21): Show CATGGTATGAAAGAAGTATAGCAAAGAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0071 a0001c0002t0019g0071	1	396	0.0025	28	c.80 others(37): Show c.809_*810insCTTCTTTGCTATACTTCTTTCATACCAT	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding	22/22	809		chr6	TogoVar
AASS_chr7_122068549_122149249	122118109	A A	ACACACAT others(21): Show ACACACATACACACACACATATATATACG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	384	0.0026	28	c.687 others(43): Show c.687+197_687+198insCGTATATATATGTGTGTGTGTATGTGTG	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	6/23			chr7	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03471.hp2 NA18984.hp1 HG02622.hp2 HG03471.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0010 a0001c0001t0003 a0001c0003t0010	a0001c0001t0003g0309 a0001c0003t0010g0063 a0001c0003t0010g0064 a0001c0001t0003g0309 a0001c0003t0010g0063 a0001c0003t0010g0064	3	384	0.0078	28	c.-16 others(45): Show c.-16+3675_-16+3676insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01106.hp2 HG01169.hp2 others(14): Show HG00673.hp1 HG01106.hp2 HG01169.hp2 HG01243.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG03492.hp2 NA18943.hp1 NA18954.hp2 NA18990.hp1 NA18998.hp1 NA19010.hp2 NA19055.hp1 NA19057.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(3): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 a0001c0013t0002 a0002c0002t0027 a0002c0002t0032 a0002c0002t0038 a0002c0004t0003 a0002c0005t0003 a0002c0005t0016	a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0002g0085 others(14): Show a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0145 a0001c0001t0003g0102 a0001c0003t0002g0060 a0001c0003t0003g0107 a0001c0003t0015g0130 a0001c0013t0002g0204 a0002c0002t0027g0178 a0002c0002t0032g0157 a0002c0002t0038g0166 a0002c0004t0003g0068 a0002c0004t0003g0082 a0002c0005t0003g0207 a0002c0005t0016g0072	17	362	0.0470	28	c.-41 others(47): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGGGAGAGGGAGGG AG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp2 HG02717.hp1 HG03130.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0007 a0002c0007t0003 a0002c0007t0007	a0002c0007t0003g0005 a0002c0007t0007g0341 a0002c0007t0003g0005 a0002c0007t0007g0341	2	362	0.0055	28	c.70+ others(43): Show c.70+2181_70+2182insAGAAAGAAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(21): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0327 a0001c0001t0021g0327	1	362	0.0028	28	c.70+ others(43): Show c.70+2181_70+2182insAGGAAGAAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743423	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0013	a0002c0007t0013g0027 a0002c0007t0013g0027	1	362	0.0028	28	c.71- others(43): Show c.71-2556_71-2555insTATATATATATATATATATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02080.hp1 HG03654.hp2 others(2): Show HG01891.hp1 HG02080.hp1 HG03654.hp2 HG03704.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0008 a0002c0002 a0002c0004 a0002c0008	a0002c0002t0002 a0002c0004t0003 a0002c0008t0003 a0002c0002t0002 a0002c0004t0003 a0002c0008t0003	a0002c0002t0002g0150 a0002c0002t0002g0306 a0002c0004t0003g0032 others(2): Show a0002c0002t0002g0150 a0002c0002t0002g0306 a0002c0004t0003g0032 a0002c0004t0003g0082 a0002c0008t0003g0028	5	362	0.0138	28	c.71- others(43): Show c.71-2556_71-2555insTATATATATATATATATATATATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(21): Show CATATACATATACATATACATATACATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01975.hp1 HG02004.hp1 others(20): Show HG00140.hp2 HG01975.hp1 HG02004.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG03942.hp2 NA18948.hp1 NA18960.hp1 NA18965.hp2 NA18975.hp2 NA18981.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19081.hp2 NA19085.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0024	a0002c0002 a0003c0003 a0004c0004 others(3): Show a0002c0002 a0003c0003 a0004c0004 a0005c0013 a0005c0014 a0024c0027	a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 others(4): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0005 a0004c0004t0003 a0005c0013t0001 a0005c0014t0001 a0024c0027t0001	a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0037 others(20): Show a0002c0002t0001g0032 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0101 a0002c0002t0001g0267 a0003c0003t0001g0056 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0090 a0003c0003t0001g0103 a0003c0003t0001g0306 a0003c0003t0005g0309 a0003c0003t0005g0319 a0003c0003t0005g0320 a0003c0003t0005g0321 a0003c0003t0005g0323 a0004c0004t0003g0241 a0004c0004t0003g0242 a0005c0013t0001g0039 a0005c0014t0001g0139 a0005c0014t0001g0223 a0024c0027t0001g0227	23	348	0.0661	28	c.336 others(47): Show c.3363+1235_3363+1236insATATGTATATGTATATGTATATGTAT AT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162838	C C	CATATACA others(21): Show CATATACATATACATATACATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	348	0.0029	28	c.336 others(47): Show c.3363+1235_3363+1236insATATATATATGTATATGTATATGTAT AT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69162840	T T	TATACATA others(21): Show TATACATATACATATACATATACATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp1 HG01169.hp1 others(8): Show HG00609.hp1 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01515.hp2 HG02145.hp1 HG02280.hp1 HG03239.hp2 NA19064.hp1 NA19065.hp2 NA20129.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0030 a0002c0002 a0015c0030	a0002c0002t0001 a0002c0002t0005 a0015c0030t0001 a0002c0002t0001 a0002c0002t0005 a0015c0030t0001	a0002c0002t0001g0024 a0002c0002t0001g0038 a0002c0002t0001g0076 others(8): Show a0002c0002t0001g0024 a0002c0002t0001g0038 a0002c0002t0001g0076 a0002c0002t0001g0114 a0002c0002t0001g0123 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0246 a0002c0002t0001g0253 a0002c0002t0005g0313 a0015c0030t0001g0260	11	348	0.0316	28	c.336 others(47): Show c.3363+1233_3363+1234insGTATATGTATATGTATATGTATATGT AT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	27/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210170	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02559.hp1 HG01099.hp2 HG02559.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0213 a0005c0005t0004g0214 a0005c0005t0004g0213 a0005c0005t0004g0214	2	348	0.0058	28	c.100 others(47): Show c.1006+4506_1006+4533dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03098.hp1 HG04115.hp1 HG02015.hp2 HG03098.hp1 HG04115.hp1	a0004 a0010 a0004 a0010	a0004c0004 a0004c0006 a0010c0010 a0004c0004 a0004c0006 a0010c0010	a0004c0004t0003 a0004c0006t0011 a0010c0010t0006 a0004c0004t0003 a0004c0006t0011 a0010c0010t0006	a0004c0004t0003g0141 a0004c0006t0011g0330 a0010c0010t0006g0194 a0004c0004t0003g0141 a0004c0006t0011g0330 a0010c0010t0006g0194	3	348	0.0086	28	c.100 others(47): Show c.1006+3856_1006+3857insATATATATATATATATATATATATAT AT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(21): Show CATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01258.hp2 HG01346.hp2 others(10): Show HG01071.hp2 HG01258.hp2 HG01346.hp2 HG01943.hp2 HG01978.hp2 HG02071.hp2 HG02129.hp1 HG02155.hp1 HG02155.hp2 HG03654.hp1 HG03710.hp1 NA18951.hp2 NA18962.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0001c0004 a0017c0046 a0001c0001 a0001c0004 a0017c0046	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0017c0046t0001	a0001c0001t0002g0025 a0001c0001t0002g0118 a0001c0001t0002g0130 others(10): Show a0001c0001t0002g0025 a0001c0001t0002g0118 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0140 a0001c0001t0002g0170 a0001c0004t0001g0029 a0001c0004t0001g0115 a0001c0004t0001g0133 a0001c0004t0002g0137 a0001c0004t0002g0138 a0001c0004t0003g0062 a0017c0046t0001g0046	13	198	0.0657	28	c.382 others(45): Show c.3829+141_3829+142insATATATATATATATATATATATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01517.hp1 HG06807.hp1 others(3): Show HG00735.hp1 HG01517.hp1 HG06807.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0031 a0001c0035 a0004c0018	a0001c0002t0011 a0001c0003t0001 a0001c0004t0010 others(3): Show a0001c0002t0011 a0001c0003t0001 a0001c0004t0010 a0001c0031t0005 a0001c0035t0002 a0004c0018t0008	a0001c0002t0011g0165 a0001c0003t0001g0032 a0001c0004t0010g0198 others(3): Show a0001c0002t0011g0165 a0001c0003t0001g0032 a0001c0004t0010g0198 a0001c0031t0005g0158 a0001c0035t0002g0144 a0004c0018t0008g0196	6	198	0.0303	28	c.382 others(45): Show c.3829+141_3829+142insATATATATATATATATATATATATATAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134620	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGACAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0008 a0002c0013t0008	a0002c0013t0008g0190 a0002c0013t0008g0190	1	198	0.0051	28	c.69+ others(43): Show c.69+3519_69+3520insGTTTGTCTCTCTCTCTCTCTCTCTCTCT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0029 a0004c0005t0029	a0004c0005t0029g0207 a0004c0005t0029g0207	1	350	0.0029	28	c.331 others(47): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69273447	C C	CTATTTAT others(21): Show CTATTTATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01192.hp1 others(16): Show HG00738.hp2 HG01099.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG02071.hp1 HG02145.hp1 HG02451.hp1 HG02647.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03579.hp1 NA19030.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0002c0016 a0001c0004 a0002c0001 a0002c0016	a0001c0004t0005 a0002c0001t0004 a0002c0001t0008 others(1): Show a0001c0004t0005 a0002c0001t0004 a0002c0001t0008 a0002c0016t0004	a0001c0004t0005g0324 a0001c0004t0005g0325 a0001c0004t0005g0326 others(15): Show a0001c0004t0005g0324 a0001c0004t0005g0325 a0001c0004t0005g0326 a0001c0004t0005g0328 a0001c0004t0005g0329 a0001c0004t0005g0330 a0002c0001t0004g0003 a0002c0001t0004g0169 a0002c0001t0004g0170 a0002c0001t0004g0171 a0002c0001t0004g0172 a0002c0001t0004g0174 a0002c0001t0004g0175 a0002c0001t0004g0182 a0002c0001t0004g0185 a0002c0001t0004g0186 a0002c0001t0008g0168 a0002c0016t0004g0180	19	350	0.0543	28	c.276 others(45): Show c.2764+511_2764+512insAATAAATAAATAAATAAATAAATAAATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	20/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGAAGG others(21): Show TAGGAAGGTAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18906.hp1 NA19057.hp1 HG02572.hp1 NA18906.hp1 NA19057.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0173 a0002c0001t0004g0190 a0002c0001t0004g0191 a0002c0001t0004g0173 a0002c0001t0004g0190 a0002c0001t0004g0191	3	350	0.0086	28	c.126 others(45): Show c.1268-871_1268-870insTCCTTCCTTCCTTCCTTCCTACCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298229	T T	TAGGTAGG others(21): Show TAGGTAGGTAGGTAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0107 a0001c0006t0007g0107	1	350	0.0029	28	c.126 others(45): Show c.1268-871_1268-870insTCCTTCCTTCCTTCCTACCTACCTACCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298316	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG01192.hp1 others(6): Show HG00099.hp2 HG01099.hp1 HG01192.hp1 HG01358.hp1 HG01515.hp2 HG02145.hp1 HG02723.hp1 HG03041.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0010 a0002c0001 a0001c0004 a0001c0010 a0002c0001	a0001c0004t0005 a0001c0010t0010 a0002c0001t0004 others(1): Show a0001c0004t0005 a0001c0010t0010 a0002c0001t0004 a0002c0001t0022	a0001c0004t0005g0016 a0001c0004t0005g0329 a0001c0004t0005g0330 others(6): Show a0001c0004t0005g0016 a0001c0004t0005g0329 a0001c0004t0005g0330 a0001c0010t0010g0333 a0001c0010t0010g0335 a0002c0001t0004g0169 a0002c0001t0004g0182 a0002c0001t0004g0186 a0002c0001t0022g0188	9	350	0.0257	28	c.126 others(45): Show c.1268-985_1268-958dupTCCTTCCTTCCTTCCTTCCTTCCTTCCT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303791	T T	TATATACA others(21): Show TATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02895.hp2 HG01074.hp1 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0026 a0003c0003t0003g0004 a0003c0003t0003g0026	2	350	0.0057	28	c.930 others(43): Show c.930+877_930+878insGTGTATATATATATATATATGTGTATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303793	T T	TATATACA others(21): Show TATATACACATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp1 NA19030.hp2 HG03225.hp2 HG03453.hp1 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0015 a0003c0003t0003 a0003c0003t0015	a0003c0003t0003g0028 a0003c0003t0015g0153 a0003c0003t0015g0154 a0003c0003t0003g0028 a0003c0003t0015g0153 a0003c0003t0015g0154	3	350	0.0086	28	c.930 others(43): Show c.930+875_930+876insGTGTATATATATATATATATGTGTATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303798	A A	ATATATAT others(21): Show ATATATATATACATACATATATATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0194 a0004c0005t0003g0194	1	350	0.0029	28	c.930 others(43): Show c.930+843_930+870dupCATATATATATATGTATGTATATATATA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303799	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp1 HG02647.hp1 others(1): Show HG00738.hp2 HG02145.hp1 HG02647.hp1 HG03654.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 others(1): Show a0001c0004t0005g0326 a0001c0004t0005g0327 a0001c0004t0005g0328 a0001c0004t0005g0330	4	350	0.0114	28	c.930 others(43): Show c.930+869_930+870insGTGTGTGTATATATATATATATATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(21): Show TATATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG02155.hp1 others(15): Show HG00558.hp2 HG00609.hp2 HG02155.hp1 HG02165.hp1 HG03017.hp1 HG04199.hp2 NA18945.hp2 NA18951.hp2 NA18962.hp1 NA18973.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18993.hp1 NA19001.hp1 NA19072.hp2 NA19086.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0001 a0001c0024t0001 a0001c0002t0001 a0001c0024t0001	a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0068 others(15): Show a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0146 a0001c0024t0001g0145	18	350	0.0514	28	c.930 others(43): Show c.930+861_930+862insGTGTATATATATATATGTGTATATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19063.hp2 NA19085.hp1 NA18612.hp2 NA19063.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	3	326	0.0092	28	c.393 others(45): Show c.3937+131_3937+132insATATATATATATATATATATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68887911	T T	TATATATA others(21): Show TATATATATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03491.hp1 NA18950.hp2 others(3): Show HG00597.hp2 HG03491.hp1 NA18950.hp2 NA18960.hp1 NA18969.hp1 NA19000.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0001c0003 a0021c0036 a0001c0001 a0001c0003 a0021c0036	a0001c0001t0001 a0001c0003t0001 a0021c0036t0001 a0001c0001t0001 a0001c0003t0001 a0021c0036t0001	a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0256 others(3): Show a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0256 a0001c0001t0001g0272 a0001c0003t0001g0055 a0021c0036t0001g0158	6	274	0.0219	28	c.314 others(45): Show c.3145-406_3145-405insGGATATATATATATATATATATATATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	24/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935262	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19240.hp1 HG02896.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0023 a0001c0005 a0001c0023	a0001c0005t0001 a0001c0023t0001 a0001c0005t0001 a0001c0023t0001	a0001c0005t0001g0150 a0001c0023t0001g0269 a0001c0005t0001g0150 a0001c0023t0001g0269	2	274	0.0073	28	c.466 others(45): Show c.466+1661_466+1688dupCACACACACACACACACACACACACACA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68935540	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	274	0.0037	28	c.466 others(45): Show c.466+1383_466+1410dupTATATATATATATATATATATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	5/39			chr17	TogoVar
ABCB1_chr7_87498017_87605884	87530838	C C	CAAGAAAG others(21): Show CAAGAAAGCAAGAAAGCAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0339 a0001c0001t0002g0339	1	352	0.0028	28	c.268 others(45): Show c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding	21/27			chr7	TogoVar
ABCC10_chr6_43422541_43455427	43452412	C C	CTCTACTA others(21): Show CTCTACTAAAAATACAAACATTTAGGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	342	0.0029	28	c.23 others(39): Show c.2321_*2322insTCTACTAAAAATACAAACATTTAGGCGT	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding		1986		chr6	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01243.hp2 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0005 a0001c0006t0002 a0001c0005t0005 a0001c0006t0002	a0001c0005t0005g0116 a0001c0006t0002g0044 a0001c0005t0005g0116 a0001c0006t0002g0044	2	249	0.0080	28	c.49- others(43): Show c.49-7969_49-7942dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0170 a0001c0004t0028g0170	1	249	0.0040	28	c.359 others(45): Show c.3591-440_3591-439insTGTATGTGTGTGTATGTGTGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 NA19030.hp2 HG02055.hp2 HG02145.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0025 a0003c0031 a0001c0004 a0003c0025 a0003c0031	a0001c0004t0002 a0003c0025t0006 a0003c0031t0009 a0001c0004t0002 a0003c0025t0006 a0003c0031t0009	a0001c0004t0002g0005 a0003c0025t0006g0001 a0003c0031t0009g0110 a0001c0004t0002g0005 a0003c0025t0006g0001 a0003c0031t0009g0110	3	249	0.0121	28	c.359 others(45): Show c.3591-440_3591-439insTGTGTGTGTGTGTATGTGTGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16143530	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0049 a0001c0003t0007g0049	1	249	0.0040	28	c.22 others(39): Show c.2249_*2250insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding		478		chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778433	T T	TATAGAGA others(21): Show TATAGAGAGAGAGAGACAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02895.hp1 HG00639.hp2 HG02895.hp1	a0003 a0019 a0003 a0019	a0003c0004 a0019c0023 a0003c0004 a0019c0023	a0003c0004t0001 a0019c0023t0001 a0003c0004t0001 a0019c0023t0001	a0003c0004t0001g0183 a0019c0023t0001g0219 a0003c0004t0001g0183 a0019c0023t0001g0219	2	336	0.0060	28	c.-44 others(39): Show c.-4412_-4411insATAGAGAGAGAGAGACAGAGAGAGAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4206		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778433	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGACAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	336	0.0030	28	c.-44 others(39): Show c.-4412_-4411insATATAGAGAGAGAGAGACAGAGAGAGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4206		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778447	G G	GAGACAGA others(21): Show GAGACAGACAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02886.hp2 HG03139.hp1 others(2): Show HG02818.hp1 HG02886.hp2 HG03139.hp1 HG03195.hp2 HG03579.hp1	a0001 a0026 a0001 a0026	a0001c0002 a0026c0032 a0001c0002 a0026c0032	a0001c0002t0003 a0001c0002t0007 a0026c0032t0001 a0001c0002t0003 a0001c0002t0007 a0026c0032t0001	a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0007g0126 others(2): Show a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0007g0126 a0001c0002t0007g0129 a0026c0032t0001g0127	5	336	0.0149	28	c.-43 others(39): Show c.-4398_-4397insAGACAGACAGAGAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4192		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778447	G G	GAGACAGA others(21): Show GAGACAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00741.hp2 others(19): Show HG00597.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01258.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03688.hp1 NA18952.hp2 NA19011.hp1 NA19057.hp2 NA19074.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp2	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0022	a0001c0001 a0008c0011 a0009c0012 others(1): Show a0001c0001 a0008c0011 a0009c0012 a0022c0028	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0008c0011t0001 a0009c0012t0001 a0022c0028t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(19): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0010g0321 a0008c0011t0001g0320 a0008c0011t0001g0324 a0009c0012t0001g0217 a0022c0028t0001g0280	22	336	0.0655	28	c.-43 others(39): Show c.-4398_-4397insAGACAGAGAGAGAGAGAGAGAGAGAGAA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4192		chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)