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.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
OR3A3_chr17_3406370_3429070	3419845	CGCCTCAG others(25): Show CGCCTCAGCCTCCCAGGTTCACGCCATTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0031 a0005c0005t0031	a0005c0005t0031g0113 a0005c0005t0031g0113	1	440	0.0023	-32	c.-6- others(45): Show c.-6-721_-6-690delAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC		OR3A3	ENSG00000159961.3	transcript	ENST00000641141.1	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
OR4E2_chr14_21648835_21672642	21657440	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG02976.hp2 HG02055.hp2 HG02970.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0226 a0002c0001t0001g0044 a0001c0002t0001g0226 a0002c0001t0001g0044	3	458	0.0066	-32	c.-10 others(49): Show c.-103+887_-103+918delCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTC		OR4E2	ENSG00000221977.3	transcript	ENST00000641524.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr14	TogoVar
OR4K13_chr14_20024399_20041038	20027400	GACCTGAA others(25): Show GACCTGAAAAACTCTATTTCTAAATTAGGTCAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03710.hp1 HG03490.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	2	466	0.0043	-32	c.64 others(43): Show c.6412_*6443delATGACCTAATTTAGAAATAGAGTTTTTCAGGT		OR4K13	ENSG00000176253.4	transcript	ENST00000641904.1	protein_coding					1998		chr14	TogoVar
OR4K2_chr14_19870142_19888932	19872439	TTATATAT others(25): Show TTATATATATATACACATATATATACCTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG02976.hp2 HG01884.hp2 HG02723.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054	a0001c0001t0052g0001 a0001c0001t0053g0001 a0001c0001t0054g0001 a0001c0001t0052g0001 a0001c0001t0053g0001 a0001c0001t0054g0001	3	254	0.0118	-32	c.-37 others(43): Show c.-3718_-3687delTATATATATATACACATATATATACCTATTTA		OR4K2	ENSG00000165762.3	transcript	ENST00000641885.1	protein_coding					2702		chr14	TogoVar
OR4K2_chr14_19870142_19888932	19872683	TTTTATAT others(25): Show TTTTATATATATACACATATATATACCTATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0001 a0001c0001t0090g0001	1	254	0.0039	-32	c.-34 others(43): Show c.-3474_-3443delTTTATATATATACACATATATATACCTATTTA		OR4K2	ENSG00000165762.3	transcript	ENST00000641885.1	protein_coding					2458		chr14	TogoVar
OR4K5_chr14_19915607_19926578	19917133	GTATATAT others(25): Show GTATATATATATGTGTGTGTATATATATGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG01243.hp2 others(19): Show HG00099.hp1 HG00408.hp1 HG01243.hp2 HG01928.hp1 HG02015.hp1 HG02074.hp1 HG02135.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG03225.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18959.hp1 NA18963.hp2 NA18966.hp1 NA18986.hp1 NA18994.hp2 NA19003.hp2 NA19064.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0000 a0002c0002t0000 a0001c0001t0000 a0002c0002t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000	22	236	0.0932	-32	c.-34 others(43): Show c.-3473_-3442delTATATATATATGTGTGTGTATATATATGTATA		OR4K5	ENSG00000176281.5	transcript	ENST00000315915.5	protein_coding					3473		chr14	TogoVar
OR52A1_chr11_5141824_5159757	5151490	CAAGTGGA others(25): Show CAAGTGGATTGAGAAATGGAGGGACCAGCAAGT	C C	frameshift_variant frameshift_variant	HIGH	NA19087.hp2 NA19087.hp2	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0002 a0000c0007t0002	a0000c0007t0002g0083 a0000c0007t0002g0083	1	438	0.0023	-32	c.848 others(39): Show c.848_879delACTTGCTGGTCCCTCCATTTCTCAATCCACTT	p.Tyr others(5): Show p.Tyr283fs	OR52A1	ENSG00000182070.7	transcript	ENST00000380367.3	protein_coding	2/2	1511/6178	848/939	283/312			chr11	TogoVar
OR52N1_chr11_5781471_5796265	5794436	ATATATAT others(25): Show ATATATATATATATATATATTTATTTATTTATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0009	1	418	0.0024	-32	c.-34 others(43): Show c.-3402_-3371delAATAAATAAATAAATATATATATATATATATA		OR52N1	ENSG00000181001.3	transcript	ENST00000641645.1	protein_coding					3172		chr11	TogoVar
OR52N4_chr11_5749243_5760958	5754324	TTTAAAAT others(25): Show TTTAAAATTATATCTATATTGAGATGAGTATAG	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	472	0.0021	-32	c.-49 others(45): Show c.-49+23_-49+54delAAATTATATCTATATTGAGATGAGTATAGTTA		OR52N4	ENSG00000181074.5	transcript	ENST00000641350.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr11	TogoVar
OR52N4_chr11_5749243_5760958	5759244	AATATGTA others(25): Show AATATGTATATATAATGGTAGTATATATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	472	0.0021	-32	c.35 others(43): Show c.3539_*3570delATATGTATATATAATGGTAGTATATATATAAT		OR52N4	ENSG00000181074.5	transcript	ENST00000641350.2	protein_coding					3287		chr11	TogoVar
OR56B2P_chr11_5756153_5774080	5759244	AATATGTA others(25): Show AATATGTATATATAATGGTAGTATATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-32	c.-19 others(43): Show c.-1994_-1963delATATGTATATATAATGGTAGTATATATATAAT		OR56B2P	ENSG00000181017.7	transcript	ENST00000641377.2	protein_coding					1908		chr11	TogoVar
OR5AP2_chr11_56636489_56647439	56643277	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02965.hp2 others(2): Show HG02451.hp2 HG02818.hp2 HG02965.hp2 HG03139.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	5	438	0.0114	-32	c.-87 others(41): Show c.-870_-839delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC		OR5AP2	ENSG00000172464.4	transcript	ENST00000544374.3	protein_coding					839		chr11	TogoVar
OR5D18_chr11_55814630_55825571	55815751	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	434	0.0023	-32	c.-38 others(43): Show c.-3878_-3847delTCTCTCTCTCTCTCTCTCTCTCTATATATATA		OR5D18	ENSG00000186119.9	transcript	ENST00000333976.7	protein_coding					3878		chr11	TogoVar
OR5L1_chr11_55806367_55817476	55815751	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	440	0.0023	-32	c.33 others(43): Show c.3350_*3381delTCTCTCTCTCTCTCTCTCTCTCTATATATATA		OR5L1	ENSG00000279395.3	transcript	ENST00000625203.2	protein_coding					3276		chr11	TogoVar
OR6K6_chr1_158749720_158760891	158757593	CGCTGCTA others(25): Show CGCTGCTATTAATGAGAATGTCATTACCCATAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	468	0.0021	-32	c.17 others(43): Show c.1747_*1778delGCTGCTATTAATGAGAATGTCATTACCCATAA		OR6K6	ENSG00000180433.6	transcript	ENST00000641861.1	protein_coding					1703		chr1	TogoVar
OR6X1_chr11_123748580_123759518	123756033	CAGATAGA others(25): Show CAGATAGATAGATAGATAGGTGGATAGATAGAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	438	0.0023	-32	c.-15 others(43): Show c.-1547_-1516delATCTATCTATCCACCTATCTATCTATCTATCT		OR6X1	ENSG00000221931.3	transcript	ENST00000327930.3	protein_coding					1516		chr11	TogoVar
OR9Q1_chr11_58018881_58186616	58053611	AAATATAT others(25): Show AAATATATATATATATAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18983.hp1 NA18986.hp1 HG00544.hp1 NA18983.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0001g0063 a0001c0001t0002g0064 a0001c0001t0002g0065	3	324	0.0093	-32	c.-92 others(49): Show c.-92-2256_-92-2225delTATATATATATATAAAATATATATATAT ATAA		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr11	TogoVar
ORAI3_chr16_30944068_30959938	30957919	GGCGAAAG others(25): Show GGCGAAAGTGCGAATGCAGACCCTGTGCCCGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	292	0.0034	-32	c.40 others(43): Show c.4076_*4107delGCGAAAGTGCGAATGCAGACCCTGTGCCCGCT		ORAI3	ENSG00000175938.7	transcript	ENST00000318663.5	protein_coding					2982		chr16	TogoVar
ORMDL2_chr12_55813041_55826879	55826276	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTTTTTGAGATGGTGTGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-32	c.58 others(43): Show c.5882_*5913delTTTTTTTTTTTTTTTTTTTGAGATGGTGTGGC		ORMDL2	ENSG00000123353.10	transcript	ENST00000243045.10	protein_coding					4398		chr12	TogoVar
OS9_chr12_57689132_57726557	57718794	CTTTGGAA others(25): Show CTTTGGAAGGCTGAGGCAAGAGAATCGCTCGAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp1 HG02109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0095 a0001c0001t0001g0099	2	352	0.0057	-32	c.141 others(49): Show c.1411-198_1411-167delTTTGGAAGGCTGAGGCAAGAGAATCGCT CGAA		OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding	11/14						chr12	TogoVar
OSBPL10_chr3_31655825_31986262	31812718	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02809.hp2 HG03209.hp2 others(1): Show HG00323.hp1 HG02809.hp2 HG03209.hp2 NA18969.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0018 others(1): Show a0001c0001 a0002c0003 a0003c0018 a0003c0019	a0001c0001t0001 a0002c0003t0001 a0003c0018t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0018t0002 a0003c0019t0001	a0001c0001t0001g0095 a0002c0003t0001g0049 a0003c0018t0002g0002 others(1): Show a0001c0001t0001g0095 a0002c0003t0001g0049 a0003c0018t0002g0002 a0003c0019t0001g0007	4	186	0.0215	-32	c.729 others(51): Show c.729+17290_729+17321delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812790	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0125 a0001c0010t0001g0125	1	186	0.0054	-32	c.729 others(51): Show c.729+17218_729+17249delTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31837321	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	186	0.0054	-32	c.538 others(49): Show c.538-7122_538-7091delTATATATATATATATATATATATATATA TATA		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	3/11						chr3	TogoVar
OSBPL2_chr20_62233521_62301183	62270763	CCCTCTCT others(25): Show CCCTCTCTGGGTCCTCTCCTTGTCCCTCTCTGG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp2 HG02257.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0221 a0001c0002t0008g0222 a0001c0002t0008g0221 a0001c0002t0008g0222	2	348	0.0058	-32	c.259 others(49): Show c.259-1297_259-1266delCCTCTCTGGGTCCTCTCCTTGTCCCTCT CTGG		OSBPL2	ENSG00000130703.17	transcript	ENST00000313733.9	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
OSBPL6_chr2_178189512_178407893	178265191	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01168.hp2 others(9): Show HG00642.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01433.hp1 HG01496.hp1 HG01952.hp1 HG02004.hp2 HG02273.hp2 NA19060.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016 a0001c0001t0042 a0001c0001t0049	a0001c0001t0001g0083 a0001c0001t0005g0094 a0001c0001t0005g0100 others(9): Show a0001c0001t0001g0083 a0001c0001t0005g0094 a0001c0001t0005g0100 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0015g0084 a0001c0001t0016g0093 a0001c0001t0016g0102 a0001c0001t0016g0106 a0001c0001t0042g0140 a0001c0001t0049g0101	12	200	0.0600	-32	c.-35 others(53): Show c.-350-19729_-350-19698delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		OSBPL6	ENSG00000079156.17	transcript	ENST00000190611.9	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
OSCAR_chr19_54089668_54105803	54096321	CCTCTCTC others(25): Show CCTCTCTCTCTGCCTCCCTCTCTCTGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	443	0.0023	-32	c.374 others(47): Show c.374-200_374-169delAGGGAGGCAGAGAGAGGGAGGCAGAGAGAG AG		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4						chr19	TogoVar
OSCAR_chr19_54089668_54105803	54096479	CCTCTCTC others(25): Show CCTCTCTCTGCCTCCCTCTCTCTCTGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	443	0.0023	-32	c.373 others(47): Show c.373+351_374-327delAGGGAGGCAGAGAGAGAGGGAGGCAGAGAG AG		OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding	3/4						chr19	TogoVar
OSGEPL1_chr2_189741660_189767792	189742816	GCACATTA others(25): Show GCACATTAGAATTACCTGACACACACACACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02135.hp1 NA18961.hp2 others(2): Show HG00597.hp1 HG02135.hp1 NA18961.hp2 NA18968.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0020	5	358	0.0140	-32	c.43 others(43): Show c.4349_*4380delTGTGTGTGTGTGTGTCAGGTAATTCTAATGTG		OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding					3843		chr2	TogoVar
OSGEPL1_chr2_189741660_189767792	189742905	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 NA18906.hp2 HG02165.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0003 a0001c0001t0001g0038	2	358	0.0056	-32	c.42 others(43): Show c.4260_*4291delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding					3754		chr2	TogoVar
OSGEP_chr14_20441401_20459812	20456719	TCAGAGAA others(25): Show TCAGAGAACAAACTACCAGCTGAACTTCAGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	460	0.0022	-32	c.-20 others(43): Show c.-2068_-2037delCTCCTGAAGTTCAGCTGGTAGTTTGTTCTCTG		OSGEP	ENSG00000092094.11	transcript	ENST00000206542.9	protein_coding					1908		chr14	TogoVar
OSTN_chr3_191194241_191270615	191251156	ATTATACA others(25): Show ATTATACAAATAAATGGAAAGCTTAGAAATATT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00673.hp1 others(48): Show HG00408.hp1 HG00438.hp2 HG00673.hp1 HG00733.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18946.hp2 NA18949.hp2 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18987.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19001.hp2 NA19011.hp1 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp1 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 others(46): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0112 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0278 a0001c0001t0001g0299 a0001c0001t0001g0308 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0003g0194 a0001c0001t0003g0197 a0001c0001t0003g0279 a0001c0001t0004g0361	51	402	0.1269	-32	c.12 others(49): Show c.12+1024_*12+1055delTTATACAAATAAATGGAAAGCTTAGAAA TATT		OSTN	ENSG00000188729.7	transcript	ENST00000682035.1	protein_coding	4/4						chr3	TogoVar
OTOA_chr16_21658968_21765729	21675063	GTCTTTCT others(25): Show GTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG01081.hp1 others(9): Show HG00099.hp1 HG00621.hp1 HG01081.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02155.hp2 HG03098.hp1 HG03225.hp2 NA18959.hp2 NA18970.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0002 a0001c0012t0002 a0001c0001t0001 a0001c0002t0002 a0001c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0242 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0242 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0012t0002g0291	12	320	0.0375	-32	c.-4- others(47): Show c.-4-3426_-4-3395delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT		OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr16	TogoVar
OVCA2_chr17_2037022_2048425	2047877	CCCAGCCC others(25): Show CCCAGCCCTAAATAATGATTTTTTTTTTTTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-32	c.47 others(43): Show c.4774_*4805delCCAGCCCTAAATAATGATTTTTTTTTTTTGAG		OVCA2	ENSG00000262664.3	transcript	ENST00000572195.3	protein_coding					4453		chr17	TogoVar
OXR1_chr8_106265190_106757694	106405172	ATATATAT others(25): Show ATATATATATATATATATATATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	172	0.0058	-32	c.23+ others(49): Show c.23+45537_23+45568delTATATATATATATATATATATATATATA TAGT		OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	2/16						chr8	TogoVar
OXSR1_chr3_38160537_38260484	38184903	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03710.hp2 HG03098.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0238 a0001c0001t0001g0114 a0001c0001t0001g0238	2	248	0.0081	-32	c.183 others(49): Show c.183+1805_183+1836delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
P2RX1_chr17_3891592_3921465	3915710	TGGCCTCT others(25): Show TGGCCTCTGTGTGTCAGTGGCGGCCTGGTTTGG	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	378	0.0027	-32	c.137 others(47): Show c.137+347_137+378delCCAAACCAGGCCGCCACTGACACACAGAGG CC		P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	1/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699870	AAAGAAAG others(25): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	362	0.0028	-32	c.-38 others(43): Show c.-3897_-3866delCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding					3716		chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699874	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02083.hp2 HG02148.hp2 others(20): Show HG01433.hp2 HG02083.hp2 HG02148.hp2 HG02683.hp2 HG02698.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp2 HG04228.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18957.hp1 NA18961.hp1 NA18980.hp2 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19066.hp1 NA19067.hp2 NA19085.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0128 a0001c0001t0001g0136 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0263 a0001c0001t0001g0302 a0001c0001t0001g0322 a0001c0001t0002g0008 a0001c0001t0002g0147 a0001c0001t0002g0150 a0002c0002t0001g0009 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0152 a0002c0002t0001g0157 a0002c0002t0001g0160 a0002c0002t0001g0179 a0002c0002t0002g0161 a0002c0002t0002g0167 a0002c0002t0002g0170 a0002c0002t0002g0181	23	362	0.0635	-32	c.-39 others(43): Show c.-3901_-3870delCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding					3720		chr17	TogoVar
P2RY8_chrX_1457581_1542185	1458599	CTATCTAT others(25): Show CTATCTATCTATCTATCTATCTATCCATCTATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	114	0.0088	-32	c.68 others(43): Show c.6848_*6879delCATAGATGGATAGATAGATAGATAGATAGATA		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding					3981		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1524395	CTCCATCC others(25): Show CTCCATCCATGCATGCATCCATCCATCCATCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	114	0.0088	-32	c.-25 others(51): Show c.-25+12494_-25+12525delTGGATGGATGGATGGATGCATGCATG GATGGA		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P2RY8_chrX_1457581_1542185	1533542	TATATATT others(25): Show TATATATTATATACTTATATATTTATTATTTAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(102): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG04115.hp1 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19006.hp1 NA19012.hp1 NA19056.hp1 NA19068.hp1 NA19085.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0003c0013 a0004c0012 a0005c0006 a0006c0008 a0007c0009 a0008c0010 a0009c0011 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0009 a0001c0004t0010 a0001c0004t0020 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0021 a0002c0002t0027 a0002c0005t0006 a0002c0005t0017 a0003c0013t0001 a0004c0012t0013 a0005c0006t0001 a0006c0008t0005 a0007c0009t0032 a0008c0010t0001 a0009c0011t0018 a0010c0007t0015	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0016 others(102): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0003g0066 a0001c0001t0003g0069 a0001c0001t0006g0018 a0001c0001t0006g0029 a0001c0001t0007g0009 a0001c0001t0007g0038 a0001c0001t0007g0074 a0001c0001t0008g0020 a0001c0001t0008g0061 a0001c0001t0008g0099 a0001c0001t0014g0052 a0001c0001t0016g0102 a0001c0001t0019g0034 a0001c0001t0022g0027 a0001c0001t0023g0059 a0001c0001t0024g0070 a0001c0001t0025g0110 a0001c0001t0026g0044 a0001c0001t0028g0089 a0001c0001t0029g0054 a0001c0001t0033g0113 a0001c0001t0034g0114 a0001c0003t0001g0048 a0001c0003t0003g0030 a0001c0003t0003g0041 a0001c0003t0003g0068 a0001c0003t0005g0031 a0001c0004t0009g0032 a0001c0004t0010g0049 a0001c0004t0010g0111 a0001c0004t0020g0017 a0002c0002t0001g0028 a0002c0002t0004g0008 a0002c0002t0004g0019 a0002c0002t0004g0035 a0002c0002t0006g0067 a0002c0002t0009g0006 a0002c0002t0021g0021 a0002c0002t0027g0100 a0002c0005t0006g0058 a0002c0005t0017g0062 a0003c0013t0001g0108 a0004c0012t0013g0093 a0005c0006t0001g0036 a0006c0008t0005g0051 a0007c0009t0032g0004 a0008c0010t0001g0096 a0009c0011t0018g0085 a0010c0007t0015g0015	105	114	0.9211	-32	c.-25 others(49): Show c.-25+3347_-25+3378delTTAAATAATAAATATATAAGTATATAAT ATAT		P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1						chrX	TogoVar
P3H2_chr3_189951728_190125897	189966123	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02486.hp2 HG01257.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0022 a0001c0002t0008 a0001c0002t0022	a0001c0002t0008g0220 a0001c0002t0022g0093 a0001c0002t0008g0220 a0001c0002t0022g0093	2	304	0.0066	-32	c.189 others(51): Show c.1894-2057_1894-2026delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14						chr3	TogoVar
PABPC1L2A_chrX_73072276_73084512	73080188	TGCTGCGG others(25): Show TGCTGCGGGGCTGCGGGGCTGCGGGGCTGCGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02723.hp1 HG01361.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0002g0000 a0001c0001t0003g0000	2	274	0.0073	-32	c.-83 others(41): Show c.-834_-803delCCCGCAGCCCCGCAGCCCCGCAGCCCCGCAGC		PABPC1L2A	ENSG00000186288.5	transcript	ENST00000373519.1	protein_coding					677		chrX	TogoVar
PABPC1L2B_chrX_72997939_73011106	73002738	GCCCGCAG others(25): Show GCCCGCAGCCCGGCAGCCCCGCAGCCCCGCAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	294	0.0034	-32	c.-90 others(41): Show c.-904_-873delCCCGCAGCCCGGCAGCCCCGCAGCCCCGCAGC		PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding					200		chrX	TogoVar
PABPC1L2B_chrX_72997939_73011106	73002749	GGCAGCCC others(25): Show GGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	294	0.0034	-32	c.-89 others(41): Show c.-893_-862delGCAGCCCCGCAGCCCCGCAGCCCCGCAGCCCC		PABPC1L2B	ENSG00000184388.6	transcript	ENST00000373521.4	protein_coding					189		chrX	TogoVar
PACC1_chr1_212358928_212419886	212396796	ATATCTAT others(25): Show ATATCTATCTATCTATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03710.hp2 HG03017.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0299 a0001c0001t0001g0300	2	374	0.0054	-32	c.134 others(49): Show c.134-9728_134-9697delGATAGATAGATAGATAGATAGATAGATA GATA		PACC1	ENSG00000065600.13	transcript	ENST00000261455.9	protein_coding	2/7						chr1	TogoVar
PACRG_chr6_162722974_163320500	162958870	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	130	0.0077	-32	c.292 others(53): Show c.292-103278_292-103247delTATATATATATATAGAGAGAGAGA GAGAGAGA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	162958874	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	130	0.0077	-32	c.292 others(53): Show c.292-103274_292-103243delTATATATATAGAGAGAGAGAGAGA GAGAGAGA		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163319511	TATATATA others(25): Show TATATATATATATATATATATATATATACATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02895.hp1 NA18965.hp2 HG01891.hp1 HG02895.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0004g0084 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0004g0084	3	130	0.0231	-32	c.45 others(43): Show c.4525_*4556delATATATATATATATATATATATATATACATAG		PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding					4012		chr6	TogoVar
PACS2_chr14_105309748_105403147	105353061	ACCCCCAT others(25): Show ACCCCCATCACTGTCCCCTGGGGTGACAGGCCC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0181 a0002c0002t0003g0181	1	210	0.0048	-32	c.297 others(47): Show c.297+621_297+652delAGGCCCCCCCCATCACTGTCCCCTGGGGTG AC		PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results (Total: 5012 hits)