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
ACKR3_chr2_236564825_236587354	236566718	C C	CCCTTCCT others(29): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02258.hp2 HG02280.hp2 HG00423.hp1 HG02258.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0002c0004t0001 a0001c0001t0001 a0001c0002t0002 a0002c0004t0001	a0001c0001t0001g0009 a0001c0002t0002g0063 a0002c0004t0001g0027 a0001c0001t0001g0009 a0001c0002t0002g0063 a0002c0004t0001g0027	3	394	0.0076	36	c.-32 others(47): Show c.-3233_-3232insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3106		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	382	0.0026	36	c.-38 others(47): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGG AG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01255.hp2 HG01346.hp1 others(4): Show HG00597.hp2 HG01255.hp2 HG01346.hp1 NA18953.hp1 NA18970.hp1 NA18971.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0201 a0001c0001t0001g0202 others(4): Show a0001c0001t0001g0162 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0273	7	382	0.0183	36	c.-38 others(47): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGG AG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(29): Show AGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0173 a0004c0005t0001g0173	1	382	0.0026	36	c.-38 others(47): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGG AG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(29): Show GGGAGGGAGGGAGGGAGGGAAAGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0348 a0006c0008t0001g0348	1	382	0.0026	36	c.-38 others(47): Show c.-3832_-3831insGGAGGGAGGGAGGGAGGGAAAGAAGGAAGGAAGG AA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(29): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	382	0.0026	36	c.-38 others(47): Show c.-3832_-3831insGGAGGGAGGGAGGGAGGGAGGGAGGGAAAGAAGG AA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134897065	G G	GATTACAC others(29): Show GATTACACAAACTTATGAATATACTAAAACCCATTGA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	382	0.0026	36	c.850 others(53): Show c.850-1271_850-1236dupCACAAACTTATGAATATACTAAAACCCA TTGAATTA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA18985.hp2 HG02258.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0076 a0001c0002t0001g0004 a0001c0002t0001g0076	2	434	0.0046	36	c.-43 others(47): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT12_chr5_81324996_81399134	81360393	C C	CTTTGCAA others(29): Show CTTTGCAAAATTAAGAAAGCAAAGAGAGGGAATAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	278	0.0036	36	c.361 others(51): Show c.361-391_361-356dupATTTATTCCCTCTCTTTGCTTTCTTAATTT TGCAAA	ACOT12	ENSG00000172497.9	transcript	ENST00000307624.8	protein_coding	4/14			chr5	TogoVar
ACOT8_chr20_45836721_45862392	45854230	T T	TGCCCAGG others(29): Show TGCCCAGGCTGGAGTGCTCGCCCAGGCTGGAGTGCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG02145.hp2 others(9): Show HG00140.hp1 HG01167.hp2 HG02145.hp2 HG02280.hp1 HG02683.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03516.hp2 HG03834.hp2 HG04228.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0039	12	422	0.0284	36	c.262 others(51): Show c.262+928_262+929insGAGCACTCCAGCCTGGGCGAGCACTCCAGC CTGGGC	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding	2/5			chr20	TogoVar
ACOX2_chr3_58500136_58542190	58537267	A A	AGCTCTCA others(29): Show AGCTCTCAAGCCCTTGTCTGCTCTCAAGCCCTTGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	364	0.0028	36	c.-24 others(45): Show c.-241_-240insAGACAAGGGCTTGAGAGCAGACAAGGGCTTGAGAGC	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding		78		chr3	TogoVar
ACOXL_chr2_110727573_111123548	110950810	G G	GGAGAGAG others(29): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0104 a0001c0003t0002g0104	1	150	0.0067	36	c.105 others(57): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03041.hp1 HG04199.hp2 others(1): Show HG02602.hp2 HG03041.hp1 HG04199.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0004 a0001c0001t0022 a0001c0002t0004	a0001c0001t0022g0167 a0001c0002t0004g0119 a0001c0002t0004g0120 others(1): Show a0001c0001t0022g0167 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0174	4	368	0.0109	36	c.121 others(53): Show c.121-2648_121-2647insACACACACACACACACACACACACACAC ACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP3_chr3_132312407_132363841	132348999	T T	TCACACAC others(29): Show TCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0148 a0001c0002t0004g0148	1	368	0.0027	36	c.782 others(51): Show c.782-906_782-905insACACACACACACACACACACACACACACAC ACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACSBG1_chr15_78162468_78239565	78215727	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 NA18942.hp1 others(2): Show HG00738.hp1 HG00741.hp2 NA18942.hp1 NA18952.hp2 NA18977.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0001 a0003c0004t0003 a0002c0003t0001 a0003c0004t0003	a0002c0003t0001g0109 a0002c0003t0001g0110 a0003c0004t0003g0127 others(2): Show a0002c0003t0001g0109 a0002c0003t0001g0110 a0003c0004t0003g0127 a0003c0004t0003g0128 a0003c0004t0003g0129	5	350	0.0143	36	c.132 others(53): Show c.132-7626_132-7625insCCTTTCTTTCTTTCTTTCTTCCTTTCTT TCTTTCTT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSF3_chr16_89088852_89161233	89107407	A A	ACCTCGGC others(29): Show ACCTCGGCACCATCCTGCTACACGCGTGCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00558.hp2 others(31): Show HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG02015.hp2 HG02083.hp2 HG02132.hp2 HG03490.hp2 HG03491.hp2 HG03927.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp1 NA18949.hp2 NA18950.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18980.hp1 NA18981.hp2 NA18992.hp1 NA18994.hp1 NA19003.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0022 a0004c0004t0025 others(3): Show a0004c0004t0003 a0004c0004t0022 a0004c0004t0025 a0004c0004t0031 a0004c0004t0037 a0004c0004t0038	a0004c0004t0003g0005 a0004c0004t0003g0014 a0004c0004t0003g0215 others(30): Show a0004c0004t0003g0005 a0004c0004t0003g0014 a0004c0004t0003g0215 a0004c0004t0003g0223 a0004c0004t0003g0229 a0004c0004t0003g0230 a0004c0004t0003g0231 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0304 a0004c0004t0003g0306 a0004c0004t0003g0307 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0003g0334 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0003g0339 a0004c0004t0003g0340 a0004c0004t0003g0341 a0004c0004t0003g0342 a0004c0004t0003g0344 a0004c0004t0003g0345 a0004c0004t0003g0346 a0004c0004t0003g0347 a0004c0004t0003g0348 a0004c0004t0003g0349 a0004c0004t0022g0103 a0004c0004t0025g0338 a0004c0004t0031g0232 a0004c0004t0037g0013 a0004c0004t0038g0343	34	368	0.0924	36	c.823 others(53): Show c.823-4654_823-4619dupTCCCCGCCTCGGCACCATCCTGCTACAC GCGTGCTC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423217	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA19078.hp2 NA20805.hp1 HG02683.hp2 NA19078.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0257 a0001c0001t0001g0284 a0001c0001t0001g0091 a0001c0001t0001g0257 a0001c0001t0001g0284	3	364	0.0082	36	c.159 others(53): Show c.1593+777_1593+778insTATATATATATATATATATATATATATA TATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	364	0.0028	36	c.159 others(53): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03669.hp1 HG01928.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0273 a0001c0001t0001g0286	2	364	0.0055	36	c.159 others(53): Show c.1593+803_1593+804insTATATATATATATATATATATATATATA TATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSS1_chr20_25001237_25063139	25037001	A A	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03540.hp2 HG03453.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0029 a0003c0032 a0001c0029 a0003c0032	a0001c0029t0001 a0003c0032t0003 a0001c0029t0001 a0003c0032t0003	a0001c0029t0001g0170 a0003c0032t0003g0210 a0001c0029t0001g0170 a0003c0032t0003g0210	2	244	0.0082	36	c.432 others(53): Show c.432-6044_432-6043insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	ACSS1	ENSG00000154930.15	transcript	ENST00000323482.9	protein_coding	2/13			chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	312	0.0032	36	c.375 others(55): Show c.375-13662_375-13627dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81135299	T T	TATATATT others(29): Show TATATATTATATATCACATTATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02257.hp2 others(28): Show HG01884.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG06807.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18966.hp1 NA18973.hp2 NA18989.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19078.hp2 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0004 a0002c0009 others(2): Show a0002c0003 a0002c0004 a0002c0009 a0002c0015 a0003c0007	a0002c0003t0005 a0002c0004t0001 a0002c0004t0003 others(5): Show a0002c0003t0005 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0009t0002 a0002c0015t0003 a0003c0007t0005	a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 others(28): Show a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 a0002c0003t0005g0155 a0002c0003t0005g0156 a0002c0003t0005g0157 a0002c0003t0005g0271 a0002c0003t0005g0272 a0002c0003t0005g0273 a0002c0003t0005g0274 a0002c0003t0005g0275 a0002c0003t0005g0277 a0002c0003t0005g0278 a0002c0003t0005g0279 a0002c0003t0005g0281 a0002c0004t0001g0267 a0002c0004t0001g0283 a0002c0004t0003g0229 a0002c0004t0003g0230 a0002c0004t0003g0280 a0002c0004t0003g0282 a0002c0004t0003g0287 a0002c0004t0004g0204 a0002c0004t0004g0284 a0002c0004t0004g0285 a0002c0004t0008g0044 a0002c0009t0002g0269 a0002c0009t0002g0270 a0002c0015t0003g0041 a0003c0007t0005g0268 a0003c0007t0005g0276	31	290	0.1069	36	c.645 others(51): Show c.645+314_645+349dupTATATATTATATATTATAATATATTATATA TCACAT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81135303	T T	TATTATAT others(29): Show TATTATATATCACATTATATATTATATATTATAATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0233 a0002c0014t0003g0233	1	290	0.0035	36	c.645 others(51): Show c.645+334_645+335insCATTATATATCACATTATATATTATATATT ATAATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA2_chr10_88930074_88957773	88932031	G G	GGATGATG others(29): Show GGATGATGATGATGATGATGATGATGATGATGATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	402	0.0025	36	c.31 others(47): Show c.3191_*3192insATCATCATCATCATCATCATCATCATCATCATCA TC	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3042		chr10	TogoVar
ACTA2_chr10_88930074_88957773	88932032	G G	GATGATGA others(29): Show GATGATGATGATGATGATGATGATGATGATGATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	402	0.0025	36	c.31 others(47): Show c.3190_*3191insAATAATCATCATCATCATCATCATCATCATCATC AT	ACTA2	ENSG00000107796.13	transcript	ENST00000224784.10	protein_coding		3041		chr10	TogoVar
ACTC1_chr15_34785230_34800549	34799198	T T	TTGATCTG others(29): Show TTGATCTGCTTTAGAATGACCCTAACTGTTTCTCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	496	0.0020	36	c.-37 others(47): Show c.-3716_-3715insTAGGAGAAACAGTTAGGGTCATTCTAAAGCAGAT CA	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding		3650		chr15	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(29): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18942.hp1 HG01243.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0266 a0001c0001t0002g0047 a0001c0001t0001g0266 a0001c0001t0002g0047	2	284	0.0070	36	c.195 others(53): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236709344	G G	GTATATAT others(29): Show GTATATATATATATATACACGTATATATATACGTGTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	344	0.0029	36	c.127 others(53): Show c.127-8500_127-8499insTACACGTATATATATACGTGTATATATA TATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG02080.hp2 others(8): Show HG00738.hp1 HG01169.hp1 HG02080.hp2 HG02273.hp2 HG02647.hp2 HG02818.hp2 HG03579.hp2 NA18522.hp2 NA18955.hp2 NA19064.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0003t0002 a0002c0008t0004	a0001c0001t0001g0033 a0001c0001t0001g0338 a0001c0001t0003g0284 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0338 a0001c0001t0003g0284 a0001c0001t0003g0329 a0001c0001t0004g0117 a0001c0002t0002g0079 a0001c0002t0002g0162 a0001c0002t0002g0220 a0001c0002t0002g0309 a0001c0003t0002g0170 a0002c0008t0004g0277	11	344	0.0320	36	c.876 others(49): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737298	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	344	0.0029	36	c.876 others(51): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737315	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02922.hp2 HG03579.hp1 others(1): Show HG01192.hp1 HG02922.hp2 HG03579.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0032 a0001c0004 a0004c0032	a0001c0004t0005 a0004c0032t0017 a0001c0004t0005 a0004c0032t0017	a0001c0004t0005g0056 a0001c0004t0005g0077 a0001c0004t0005g0120 others(1): Show a0001c0004t0005g0056 a0001c0004t0005g0077 a0001c0004t0005g0120 a0004c0032t0017g0094	4	344	0.0116	36	c.876 others(51): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATGTAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735639	G G	GGTAGGGA others(29): Show GGTAGGGACCGTAGGGACCGTAGGGACCGTAGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0268 a0001c0001t0036g0268	1	314	0.0032	36	c.62 others(47): Show c.6207_*6208insGTAGGGACCGTAGGGACCGTAGGGACCGTAGGGA CC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4051		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735687	G G	GGGGGCGG others(29): Show GGGGGCGGGGCGGGGCGGGGCGGGGGGTTCTGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0220 a0001c0002t0007g0220	1	314	0.0032	36	c.62 others(47): Show c.6255_*6256insGGGGCGGGGCGGGGCGGGGCGGGGGGTTCTGGGG GC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4099		chr19	TogoVar
ACTR3C_chr7_150242212_150328545	150326627	C C	CAAGGTAG others(29): Show CAAGGTAGATCATGCCACTGTACTCCAGCCTGGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	294	0.0034	36	c.-32 others(47): Show c.-3246_-3211dupTCACCCAGGCTGGAGTACAGTGGCATGATCTACC TT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding		3083		chr7	TogoVar
ACTR5_chr20_38743460_38777520	38748031	A A	AGGTGCGC others(29): Show AGGTGCGCGCCCGGCCGACGGTGCGCGCCCGGCCGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA18999.hp1 HG01884.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	366	0.0055	36	c.-44 others(45): Show c.-448_-447insGGTGCGCGCCCGGCCGACGGTGCGCGCCCGGCCGAC	ACTR5	ENSG00000101442.10	transcript	ENST00000243903.6	protein_coding		428		chr20	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG02109.hp2 others(6): Show HG01192.hp1 HG01243.hp2 HG02109.hp2 HG04115.hp1 NA18522.hp1 NA18974.hp1 NA18974.hp2 NA19062.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0002c0003t0006 a0002c0003t0009	a0001c0001t0001g0147 a0001c0001t0003g0182 a0001c0001t0005g0164 others(6): Show a0001c0001t0001g0147 a0001c0001t0003g0182 a0001c0001t0005g0164 a0001c0001t0007g0161 a0001c0002t0001g0068 a0001c0002t0001g0128 a0001c0002t0004g0137 a0002c0003t0006g0082 a0002c0003t0009g0025	9	216	0.0417	36	c.544 others(53): Show c.544+1856_544+1891dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAGAGA others(29): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0009 a0002c0005t0009g0009	1	216	0.0046	36	c.544 others(53): Show c.544+1891_544+1892insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157588855	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATACGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	216	0.0046	36	c.74- others(51): Show c.74-1439_74-1438insCACACACACGTATATATATATATATATATA TATATA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01255.hp1 others(8): Show HG01070.hp1 HG01106.hp1 HG01255.hp1 HG02056.hp1 HG02622.hp1 HG02723.hp2 HG02976.hp1 HG03041.hp1 NA18522.hp2 NA18906.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0001c0010 others(3): Show a0001c0005 a0001c0008 a0001c0010 a0002c0002 a0002c0006 a0002c0012	a0001c0005t0001 a0001c0005t0002 a0001c0008t0006 others(4): Show a0001c0005t0001 a0001c0005t0002 a0001c0008t0006 a0001c0010t0006 a0002c0002t0003 a0002c0006t0003 a0002c0012t0014	a0001c0005t0001g0209 a0001c0005t0002g0046 a0001c0005t0002g0220 others(8): Show a0001c0005t0001g0209 a0001c0005t0002g0046 a0001c0005t0002g0220 a0001c0008t0006g0386 a0001c0008t0006g0391 a0001c0010t0006g0334 a0002c0002t0003g0029 a0002c0002t0003g0038 a0002c0002t0003g0266 a0002c0006t0003g0316 a0002c0012t0014g0015	11	408	0.0270	36	c.108 others(55): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTCTTT others(29): Show ATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0298 a0001c0001t0020g0298	1	342	0.0029	36	c.586 others(53): Show c.586-1045_586-1044insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126121102	T T	TTATATAT others(29): Show TTATATATAGTATATATAGTATATATAGTATATATAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02015.hp2 HG02071.hp2 others(5): Show HG00323.hp1 HG02015.hp2 HG02071.hp2 HG02109.hp1 HG03209.hp2 NA18988.hp1 NA19007.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0009 a0001c0012 a0002c0001 others(4): Show a0001c0009 a0001c0012 a0002c0001 a0002c0006 a0002c0011 a0002c0048 a0004c0046	a0001c0009t0010 a0001c0012t0014 a0002c0001t0001 others(4): Show a0001c0009t0010 a0001c0012t0014 a0002c0001t0001 a0002c0006t0011 a0002c0011t0009 a0002c0048t0025 a0004c0046t0010	a0001c0009t0010g0096 a0001c0012t0014g0085 a0001c0012t0014g0180 others(5): Show a0001c0009t0010g0096 a0001c0012t0014g0085 a0001c0012t0014g0180 a0002c0001t0001g0125 a0002c0006t0011g0021 a0002c0011t0009g0054 a0002c0048t0025g0110 a0004c0046t0010g0228	8	252	0.0318	36	c.417 others(53): Show c.417-2879_417-2878insCTATATATACTATATATACTATATATAC TATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp1 HG00280.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0024 a0001c0001t0036g0039 a0001c0001t0001g0024 a0001c0001t0036g0039	2	234	0.0086	36	c.957 others(51): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTGCCTG others(29): Show TCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19004.hp2 HG00597.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0071 a0001c0001t0004g0075	2	234	0.0086	36	c.844 others(51): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC AGGCAG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	87966721	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	230	0.0044	36	c.247 others(55): Show c.247-11584_247-11583insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG01192.hp2 HG02055.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0011c0010t0002 a0001c0001t0001 a0011c0010t0002	a0001c0001t0001g0152 a0011c0010t0002g0223 a0001c0001t0001g0152 a0011c0010t0002g0223	2	230	0.0087	36	c.324 others(55): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAATATATATATA TATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAM23_chr2_206438532_206626127	206477897	A A	AAAAAAAA others(29): Show AAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0182 a0001c0002t0015g0182	1	358	0.0028	36	c.433 others(53): Show c.433-3334_433-3333insAAAAAAAAAATATATATATATATATATA TATATATA	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GTGGGGCG others(29): Show GTGGGGCGAGGGCGAGGGCGAGGGCGAGGGCGAGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01169.hp2 others(2): Show HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01517.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0007 a0006c0015 a0001c0002 a0001c0007 a0006c0015	a0001c0002t0018 a0001c0007t0021 a0006c0015t0017 a0001c0002t0018 a0001c0007t0021 a0006c0015t0017	a0001c0002t0018g0095 a0001c0007t0021g0092 a0001c0007t0021g0093 others(2): Show a0001c0002t0018g0095 a0001c0007t0021g0092 a0001c0007t0021g0093 a0006c0015t0017g0071 a0006c0015t0017g0089	5	354	0.0141	36	c.523 others(55): Show c.523-13468_523-13467insTGGGGCGAGGGCGAGGGCGAGGGCGA GGGCGAGGGC	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21			chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70759132	T T	TTTTTTTT others(29): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00597.hp1 others(16): Show HG00408.hp1 HG00423.hp1 HG00597.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG02145.hp2 HG03225.hp2 HG03669.hp2 NA18951.hp2 NA18971.hp2 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19012.hp2 NA19065.hp1 NA19087.hp1 NA20905.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0018	a0001c0005 a0001c0017 a0001c0032 others(6): Show a0001c0005 a0001c0017 a0001c0032 a0003c0003 a0004c0006 a0004c0014 a0004c0061 a0009c0050 a0018c0092	a0001c0005t0004 a0001c0017t0004 a0001c0032t0004 others(7): Show a0001c0005t0004 a0001c0017t0004 a0001c0032t0004 a0003c0003t0008 a0004c0006t0004 a0004c0006t0012 a0004c0014t0004 a0004c0061t0004 a0009c0050t0015 a0018c0092t0004	a0001c0005t0004g0201 a0001c0017t0004g0187 a0001c0032t0004g0208 others(16): Show a0001c0005t0004g0201 a0001c0017t0004g0187 a0001c0032t0004g0208 a0003c0003t0008g0045 a0004c0006t0004g0115 a0004c0006t0004g0157 a0004c0006t0004g0159 a0004c0006t0004g0181 a0004c0006t0004g0185 a0004c0006t0004g0203 a0004c0006t0004g0232 a0004c0006t0012g0032 a0004c0014t0004g0190 a0004c0014t0004g0192 a0004c0014t0004g0195 a0004c0014t0004g0198 a0004c0061t0004g0171 a0009c0050t0015g0251 a0018c0092t0004g0335	19	354	0.0537	36	c.317 others(53): Show c.3178+848_3178+849insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCT	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS15_chr11_130443645_130481645	130470152	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	398	0.0025	36	c.172 others(53): Show c.1720+714_1720+715insATATATATATATATATATATATATATAT ATGTGTAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS15_chr11_130443645_130481645	130470180	A A	ATATGTGT others(29): Show ATATGTGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	398	0.0025	36	c.172 others(53): Show c.1721-739_1721-738insATGTGTATATATATATATATATATATAT ATATATGT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar

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Search Results (Total: 8848 hits)