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
ARHGEF38_chr4_105547620_105685914	105561439	A A	AGAATGGA others(33): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0115 a0002c0001t0001g0115	1	186	0.0054	40	c.196 others(57): Show c.196+8482_196+8483insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561444	A A	AGAATAGA others(33): Show AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	186	0.0054	40	c.196 others(57): Show c.196+8487_196+8488insAGAATAGAATAGAATAGAATAGAATAGA ATAGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561459	A A	AGAATAGA others(33): Show AGAATAGAATAGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0037 a0001c0004t0005g0037	1	186	0.0054	40	c.196 others(57): Show c.196+8512_196+8513insGGAATGGAATGGAATGGAATGGAATGGA ATAGAATAGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561464	A A	AGAATAGA others(33): Show AGAATAGAATAGAATAGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0046 a0002c0001t0001g0046	1	186	0.0054	40	c.196 others(57): Show c.196+8522_196+8523insGGAATGGAATGGAATGGAATGGAATAGA ATAGAATAGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561469	A A	AGAATAGA others(33): Show AGAATAGAATAGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0184 a0001c0003t0009g0184	1	186	0.0054	40	c.196 others(57): Show c.196+8522_196+8523insGGAATGGAATGGAATGGAATGGAATGGA ATAGAATAGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF38_chr4_105547620_105685914	105561474	A A	AGAATAGA others(33): Show AGAATAGAATGGAATGGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0017 a0002c0001t0017	a0002c0001t0017g0128 a0002c0001t0017g0128	1	186	0.0054	40	c.196 others(57): Show c.196+8522_196+8523insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATAGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF4_chr2_130831914_131052253	130926048	C C	CTTTCTCT others(33): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0071 a0003c0003t0001g0071	1	144	0.0069	40	c.355 others(59): Show c.3553-4903_3553-4902insTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF4_chr2_130831914_131052253	130926048	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02896.hp2 HG01884.hp2 HG02896.hp2	a0002 a0018 a0002 a0018	a0002c0011 a0018c0043 a0002c0011 a0018c0043	a0002c0011t0001 a0018c0043t0001 a0002c0011t0001 a0018c0043t0001	a0002c0011t0001g0132 a0018c0043t0001g0131 a0002c0011t0001g0132 a0018c0043t0001g0131	2	144	0.0139	40	c.355 others(59): Show c.3553-4903_3553-4902insTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTTT	ARHGEF4	ENSG00000136002.21	transcript	ENST00000409359.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARID1B_chr6_156772378_157215779	157039322	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0015 a0010c0015t0002g0015	1	150	0.0067	40	c.224 others(61): Show c.2248-45321_2248-45320insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157039616	A A	ACCTACCT others(33): Show ACCTACCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG01109.hp1 HG02258.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0006 a0003c0011t0004 a0001c0001t0006 a0003c0011t0004	a0001c0001t0006g0143 a0003c0011t0004g0103 a0001c0001t0006g0143 a0003c0011t0004g0103	2	150	0.0133	40	c.224 others(61): Show c.2248-45043_2248-45042insACCTTCCTTCCTTCCTTCCTTCCT TCTTTCCTTCCTTCCT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157039670	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	150	0.0067	40	c.224 others(61): Show c.2248-44957_2248-44956insTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCTTTC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157039674	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0102 a0001c0008t0014g0102	1	150	0.0067	40	c.224 others(61): Show c.2248-44957_2248-44956insTTTCTTTCTTTCCTTCCTTCCTTC CTTCCTTCTTTCTTTC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID1B_chr6_156772378_157215779	157039674	C C	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	150	0.0067	40	c.224 others(61): Show c.2248-44969_2248-44968insTTTCTTTCTTTCTTTCTTTCTTTC CTTCCTTCCTTCCTTC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID4A_chr14_58293555_58378876	58337246	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18949.hp1 NA18990.hp2 HG02015.hp1 NA18949.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0088 a0001c0001t0001g0128 a0001c0001t0001g0011 a0001c0001t0001g0088 a0001c0001t0001g0128	3	294	0.0102	40	c.906 others(57): Show c.906+7099_906+7100insTATATATATATATATATATATATATATA TATATATATATA	ARID4A	ENSG00000032219.19	transcript	ENST00000355431.8	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
ARID4B_chr1_235161902_235333179	235309241	A A	ACCGCCCC others(33): Show ACCGCCCCATCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG01884.hp1 others(10): Show HG01106.hp2 HG01243.hp2 HG01884.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02647.hp2 HG02723.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0161 others(10): Show a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0187 a0001c0004t0001g0191 a0001c0004t0001g0254	13	272	0.0478	40	c.6+1 others(55): Show c.6+17633_6+17672dupCTGCCGGGCGGAGGGGCTCCTCACTTCTCA GATGGGGCGG	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	2/23			chr1	TogoVar
ARK2N_chr18_46169034_46271992	46250491	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0280 a0001c0001t0007g0280	1	320	0.0031	40	c.899 others(57): Show c.899-3181_899-3180insCACACACACACACACACACACACACACA CACACACACACA	ARK2N	ENSG00000152242.11	transcript	ENST00000615052.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0123 a0001c0001t0014g0123	1	400	0.0025	40	c.554 others(57): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL3_chr10_102668731_102719397	102708908	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0059 a0001c0001t0013g0059	1	424	0.0024	40	c.4-3 others(53): Show c.4-3420_4-3419insAAAAAAAAAAAAAAAATATATATATATATATA TATATATA	ARL3	ENSG00000138175.9	transcript	ENST00000260746.6	protein_coding	1/5			chr10	TogoVar
ARL5C_chr17_39151894_39171161	39163345	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18943.hp2 NA18980.hp2 HG00673.hp2 NA18943.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0080 a0001c0001t0001g0185 a0001c0001t0001g0186	3	410	0.0073	40	c.108 others(55): Show c.108-527_108-488dupAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0057 a0001c0002t0008g0057	1	434	0.0023	40	c.62 others(51): Show c.6217_*6218insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099575	C C	CGTGTGTG others(33): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp1 others(33): Show HG00140.hp1 HG00738.hp1 HG00741.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02080.hp1 HG02148.hp2 HG02273.hp1 HG02559.hp2 HG02895.hp2 HG02922.hp1 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG04228.hp1 NA18522.hp2 NA18949.hp1 NA18951.hp1 NA18994.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19065.hp1 NA19075.hp1 NA19080.hp1 NA19087.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0018 a0001c0001t0031 others(4): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0031 a0001c0001t0054 a0001c0003t0031 a0001c0003t0074 a0002c0002t0003	a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 others(18): Show a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0023 a0001c0001t0003g0039 a0001c0001t0003g0044 a0001c0001t0003g0059 a0001c0001t0003g0085 a0001c0001t0003g0104 a0001c0001t0003g0135 a0001c0001t0018g0002 a0001c0001t0018g0005 a0001c0001t0018g0014 a0001c0001t0018g0126 a0001c0001t0031g0046 a0001c0001t0031g0137 a0001c0001t0054g0008 a0001c0003t0031g0016 a0001c0003t0074g0140 a0002c0002t0003g0021 a0002c0002t0003g0065	36	390	0.0923	40	c.10 others(51): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041	INFO_REALIGN_3_PRIME	chr7	TogoVar
ARMC2_chr6_108843422_108979476	108881296	C C	CCCTTCCT others(33): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp1 HG02071.hp1 others(14): Show HG00408.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02896.hp2 HG02897.hp2 HG03834.hp2 NA18951.hp2 NA18961.hp1 NA18968.hp1 NA18983.hp1 NA18989.hp1 NA18998.hp2 NA18999.hp2 NA19068.hp2 NA19078.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 others(14): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0002g0207 a0001c0001t0002g0216 a0001c0001t0003g0219 a0001c0001t0003g0249 a0001c0001t0003g0251	17	290	0.0586	40	c.671 others(57): Show c.671+4967_671+4968insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	ARMC2	ENSG00000118690.13	transcript	ENST00000392644.9	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARMH3_chr10_101840599_102061173	101935174	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	262	0.0038	40	c.178 others(59): Show c.1781+4688_1781+4689insATATATATATATATATATATATATAT ATATATATATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ARNT2_chr15_80399382_80602933	80426058	C C	CGAAAAGA others(33): Show CGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	268	0.0037	40	c.31+ others(57): Show c.31+21541_31+21542insAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAA	ARNT2	ENSG00000172379.22	transcript	ENST00000303329.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARNT_chr1_150804713_150881599	150850974	G G	GCCCTGTC others(33): Show GCCCTGTCTGAGAATTGAGGAGCCCCTCTGCCCGGCAGCCA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02015.hp2 HG00558.hp1 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	2	326	0.0061	40	c.182 others(57): Show c.182+1787_182+1788insTGGCTGCCGGGCAGAGGGGCTCCTCAAT TCTCAGACAGGG	ARNT	ENSG00000143437.21	transcript	ENST00000358595.10	protein_coding	3/21			chr1	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	332	0.0030	40	c.-16 others(51): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARRB1_chr11_75255122_75356661	75275123	A A	ATTTATTT others(33): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	320	0.0031	40	c.777 others(55): Show c.777-913_777-912insATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAA	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	10/15			chr11	TogoVar
ASAH2B_chr10_50734936_50764255	50742123	C C	CAAAATAT others(33): Show CAAAATATAAAAAAAAAGAGATCTGGGTGAGAAATGAGGGT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	414	0.0024	40	c.-99 others(55): Show c.-99-789_-99-788insATATAAAAAAAAAGAGATCTGGGTGAGAAA TGAGGGTAAA	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049164	G G	GGGGGGCA others(33): Show GGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0303 a0002c0002t0006g0303	1	308	0.0033	40	c.55 others(51): Show c.5566_*5567insATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCT GCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2939		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049271	G G	GGCAGAGG others(33): Show GGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0288 a0001c0006t0005g0288	1	308	0.0033	40	c.54 others(51): Show c.5459_*5460insTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCC CTCTGC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2832		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049413	G G	GGGGGCAG others(33): Show GGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	308	0.0033	40	c.53 others(51): Show c.5317_*5318insATGTGTTCCCCTCTGCCCCCCATGTATTCCCCTC TGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2690		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049516	G G	GGGGGCAG others(33): Show GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	308	0.0033	40	c.52 others(51): Show c.5214_*5215insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2587		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049620	G G	GGGGGCAG others(33): Show GGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	308	0.0033	40	c.51 others(51): Show c.5110_*5111insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTC TGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2483		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050013	G G	GGGGCAGA others(33): Show GGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18522.hp2 HG02257.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0217 a0001c0001t0001g0218	2	308	0.0065	40	c.47 others(51): Show c.4717_*4718insATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCT CTGCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2090		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050070	C C	CACATGGG others(33): Show CACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0023 a0002c0003t0001g0023	1	308	0.0033	40	c.46 others(51): Show c.4660_*4661insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2033		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050091	C C	CACATGGG others(33): Show CACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0240 a0002c0002t0001g0240	1	308	0.0033	40	c.46 others(51): Show c.4639_*4640insATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCC CCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2012		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050091	C C	CACATGGG others(33): Show CACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	308	0.0033	40	c.46 others(51): Show c.4639_*4640insATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCC CCATGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2012		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050096	G G	GGGGGCAG others(33): Show GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0037 a0001c0007t0001g0037	1	308	0.0033	40	c.46 others(51): Show c.4634_*4635insATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTC TGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2007		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGCAG others(33): Show GGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00735.hp2 others(30): Show HG00558.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01975.hp2 HG01978.hp2 HG02027.hp2 HG02155.hp1 HG02738.hp2 HG03490.hp2 HG04184.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18964.hp2 NA18966.hp2 NA18973.hp1 NA18990.hp2 NA18994.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0032 a0001c0001t0001 a0001c0001t0002 a0001c0001t0032	a0001c0001t0001g0056 a0001c0001t0001g0186 a0001c0001t0001g0196 others(30): Show a0001c0001t0001g0056 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0002g0024 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0089 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0277 a0001c0001t0032g0297	33	308	0.1071	40	c.44 others(51): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTC TGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050281	G G	GGGGGGCA others(33): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0244 a0001c0008t0001g0244	1	308	0.0033	40	c.44 others(51): Show c.4449_*4450insATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCT GCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1822		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(33): Show TGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0146	1	308	0.0033	40	c.270 others(59): Show c.2701+3523_2701+3524insGTGCGCGCGCGCGCGCGCGCACGCAC ACGCGCACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	308	0.0033	40	c.270 others(59): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCGCGCACACAC ACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGTGCGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	308	0.0033	40	c.270 others(59): Show c.2701+3523_2701+3524insGCGCACGCGCGCACACACACACACAC ACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	308	0.0033	40	c.270 others(59): Show c.2701+3523_2701+3524insGCGCGCGCGCACACACACACACACAC ACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19063.hp1 NA18982.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0042 a0001c0001t0010g0043 a0001c0001t0001g0042 a0001c0001t0010g0043	2	308	0.0065	40	c.270 others(59): Show c.2701+3523_2701+3524insGCGCGCACACACACACACACACACAC ACACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGCGCGTGTGCGTGCGCGCGCGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18951.hp1 homoSapiens_chm13v2.hp1 HG00609.hp1 NA18951.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0076 a0002c0002t0001g0267 a0002c0002t0001g0063 a0002c0002t0001g0076 a0002c0002t0001g0267	3	308	0.0097	40	c.270 others(59): Show c.2701+3522_2701+3523insTGCGCGCGCGCGCGCGCACGCACACG CGCACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153332	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0288 a0001c0006t0005g0288	1	308	0.0033	40	c.101 others(57): Show c.1011-528_1011-527insATATATATATATATATATATATATATAT ATATATATATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256760	T T	TATATATA others(33): Show TATATATATATATATCCTTATATATATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19240.hp2 HG02109.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0280 a0001c0001t0025g0279 a0001c0001t0001g0280 a0001c0001t0025g0279	2	308	0.0065	40	c.187 others(59): Show c.187-19767_187-19766insGGATATATATATATATATATATAAGG ATATATATATATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0101 a0002c0005t0001g0101	1	210	0.0048	40	c.127 others(59): Show c.127-25080_127-25079insAAAAAAAATATATATATATATATATA TATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGGGGA others(33): Show GGAGGGGAGGGGAGGGGAGGGGAGAAGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0152 a0008c0014t0005g0152	1	446	0.0022	40	c.43+ others(55): Show c.43+3943_43+3944insTTCTCTTCTCTTCTCTTCTCCCCTCCCCTC CCCTCCCCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar

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Search Results (Total: 6641 hits)