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
GRIK1_chr21_29531933_29944996	29707446	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	162	0.0062	40	c.119 others(59): Show c.119-13384_119-13383insAAGGAAGGAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29707446	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG00741.hp1 others(30): Show HG00280.hp2 HG00738.hp2 HG00741.hp1 HG01081.hp1 HG01255.hp2 HG01257.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp1 HG02129.hp2 HG02132.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03704.hp1 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18957.hp2 NA18968.hp1 NA18971.hp2 NA18983.hp2 NA19058.hp2 NA19060.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 a0001c0002 a0001c0004 a0001c0007	a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001	a0001c0002t0001g0010 a0001c0002t0001g0020 a0001c0002t0001g0047 others(30): Show a0001c0002t0001g0010 a0001c0002t0001g0020 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0061 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0004t0001g0080 a0001c0007t0001g0086	33	162	0.2037	40	c.119 others(59): Show c.119-13384_119-13383insAAGGAAGGAAGGAAGGAAGGAAGGAA GGGAGGGAGGGAGG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29707446	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCTCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	162	0.0062	40	c.119 others(59): Show c.119-13384_119-13383insAAGGAAGGAAGGAAGGAAGGAAGGAA GAGAGGGAGGGAGG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29707446	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp2 HG01081.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0019 a0001c0001t0001g0003 a0001c0002t0001g0019	2	162	0.0124	40	c.119 others(59): Show c.119-13384_119-13383insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGGAGGGAGG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29707450	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01071.hp2 HG01993.hp1 others(3): Show HG00733.hp2 HG01071.hp2 HG01993.hp1 NA18987.hp1 NA19009.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0007 a0001c0002t0001g0095 a0001c0004t0001g0022 others(3): Show a0001c0002t0001g0007 a0001c0002t0001g0095 a0001c0004t0001g0022 a0001c0004t0001g0059 a0001c0004t0001g0078 a0001c0004t0001g0106	6	162	0.0370	40	c.119 others(59): Show c.119-13388_119-13387insAAGGAAGGAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29839416	C C	CTAACAGA others(33): Show CTAACAGATAACATGGAATGAAAGAATTAGAATATAAAATT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	162	0.0062	40	c.118 others(59): Show c.118+99927_118+99966dupAATTTTATATTCTAATTCTTTCATTC CATGTTATCTGTTA	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29867797	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAATGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	162	0.0062	40	c.118 others(59): Show c.118+71585_118+71586insTCTTTCTTTCTTTCATTCTTTCTTTC TTTCTTTCTTTCTT	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29888161	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG03209.hp2 HG02280.hp2 HG02809.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0070 a0001c0001t0001g0139 a0001c0001t0004g0002 a0001c0001t0001g0070 a0001c0001t0001g0139 a0001c0001t0004g0002	3	162	0.0185	40	c.118 others(59): Show c.118+51221_118+51222insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29888192	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	162	0.0062	40	c.118 others(59): Show c.118+51190_118+51191insGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK1_chr21_29531933_29944996	29888196	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0108 a0001c0004t0001g0108	1	162	0.0062	40	c.118 others(59): Show c.118+51186_118+51187insGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIK2_chr6_101388708_102075083	101738285	C C	CAAATGTC others(33): Show CAAATGTCAATTGTAATTGACAATTGTCAAATGTCAATTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp2 NA18964.hp2 HG02970.hp2 HG03041.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0002g0039 a0001c0002t0001g0051 a0001c0001t0001g0017 a0001c0001t0002g0039 a0001c0002t0001g0051	3	116	0.0259	40	c.951 others(59): Show c.951+51934_951+51935insATGTCAATTGTAATTGACAATTGTCA AATGTCAATTGTAA	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRIN2B_chr12_13532337_13986602	13605551	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0043 a0001c0001t0084g0043	1	194	0.0052	40	c.201 others(59): Show c.2010+3051_2010+3052insTGTGTGTCAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	10/13			chr12	TogoVar
GRIN3A_chr9_101564352_101743647	101658760	G G	GTCTATCT others(33): Show GTCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0003 a0004c0007t0002g0003	1	324	0.0031	40	c.235 others(61): Show c.2352+11299_2352+11300insTAGATAGATAGATAGATAGATAGA TAGATAGATAGATAGA	GRIN3A	ENSG00000198785.7	transcript	ENST00000361820.6	protein_coding	3/8			chr9	TogoVar
GRK4_chr4_2958571_3045760	2960885	T T	TAATATAT others(33): Show TAATATATTAATATTACAATCACATTAATATTAATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02257.hp1 HG02055.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0202 a0002c0002t0006g0255 a0002c0002t0006g0202 a0002c0002t0006g0255	2	268	0.0075	40	c.-31 others(51): Show c.-3186_-3185insAATATATTAATATTACAATCACATTAATATTAAT ATATTA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2685		chr4	TogoVar
GRK4_chr4_2958571_3045760	3001089	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 NA20905.hp1 HG02615.hp2 HG03453.hp2 NA20905.hp1	a0008 a0018 a0008 a0018	a0008c0008 a0018c0019 a0008c0008 a0018c0019	a0008c0008t0004 a0018c0019t0001 a0008c0008t0004 a0018c0019t0001	a0008c0008t0004g0008 a0008c0008t0004g0011 a0018c0019t0001g0057 a0008c0008t0004g0008 a0008c0008t0004g0011 a0018c0019t0001g0057	3	268	0.0112	40	c.340 others(57): Show c.340-3141_340-3140insATATATATATATATATATATATATATGT GTGTGTGTGTGT	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRM1_chr6_146024062_146442601	146062492	C C	CAATAAAA others(33): Show CAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0083 a0001c0004t0005g0083	1	158	0.0063	40	c.700 others(59): Show c.700+32279_700+32318dupAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAAT	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRM3_chr7_86638909_86869879	86698520	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	216	0.0046	40	c.-14 others(61): Show c.-141+53666_-141+53667insTATATATATATATATATATATATA TATATATATATATATA	GRM3	ENSG00000198822.11	transcript	ENST00000361669.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
GRM5_chr11_88499642_89070982	88919238	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01978.hp1 HG03209.hp1 HG01081.hp2 HG01978.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0124 a0001c0001t0002g0179 a0001c0001t0002g0098 a0001c0001t0002g0124 a0001c0001t0002g0179	3	184	0.0163	40	c.662 others(59): Show c.662-69084_662-69083insTATATATATATATATATATATATATA TATATATATATATA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	2/9			chr11	TogoVar
GRM7_chr3_6856115_7746533	7064469	T T	TATATATA others(33): Show TATATATATATATATATATATATATACACACACACATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01981.hp1 HG02258.hp1 others(3): Show HG01069.hp2 HG01981.hp1 HG02258.hp1 HG02572.hp2 HG03195.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0002c0006	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0014t0002 a0002c0006t0001	a0001c0001t0003g0012 a0001c0002t0001g0080 a0001c0002t0002g0042 others(3): Show a0001c0001t0003g0012 a0001c0002t0001g0080 a0001c0002t0002g0042 a0001c0003t0002g0044 a0001c0014t0002g0011 a0002c0006t0001g0007	6	80	0.0750	40	c.520 others(59): Show c.520-81972_520-81971insTATATATATATATACACACACACATA TACATATATATATA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7511431	G G	GTGCACCA others(33): Show GTGCACCACAGACATTGTGACTGCACCACAGACATTGTGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp1 HG02572.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0030 a0001c0002t0002g0023 a0001c0002t0002g0030	2	80	0.0250	40	c.151 others(61): Show c.1515+49713_1515+49752dupACCACAGACATTGTGACTGCACCA CAGACATTGTGACTGC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRP_chr18_59215158_59235771	59227000	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	408	0.0025	40	c.382 others(57): Show c.382+1305_382+1306insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227008	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	408	0.0025	40	c.382 others(57): Show c.382+1309_382+1310insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227008	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	408	0.0025	40	c.382 others(57): Show c.382+1313_382+1314insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227012	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	408	0.0025	40	c.382 others(57): Show c.382+1313_382+1314insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227012	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18970.hp2 NA18979.hp2 HG03516.hp1 NA18970.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0157 a0001c0001t0001g0050 a0001c0001t0001g0157	3	408	0.0074	40	c.382 others(57): Show c.382+1317_382+1318insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227016	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	408	0.0025	40	c.382 others(57): Show c.382+1317_382+1318insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227016	T T	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 NA18965.hp1 HG00733.hp1 HG01074.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0113 a0001c0001t0001g0051 a0001c0001t0001g0113	3	408	0.0074	40	c.382 others(57): Show c.382+1295_382+1334dupCTTTCTTTCTTTCTTTCTTTCTTTCTTC CTTTCTTTCTTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRP_chr18_59215158_59235771	59227052	T T	TCTTCCTT others(33): Show TCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	408	0.0025	40	c.382 others(57): Show c.382+1334_382+1335insCTTTCTTTCTTTCTTTCTTTCTTCCTTC CTTTCTTTCTTT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GRTP1_chr13_113319163_113369130	113330909	G G	GCCCAGGT others(33): Show GCCCAGGTGTGTGTATGGAAAACCAGTTGTGTGCATGGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	288	0.0035	40	c.563 others(57): Show c.563-4819_563-4818insTTTCCATGCACACAACTGGTTTTCCATA CACACACCTGGG	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653233	C C	CCTCCTCC others(33): Show CCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0021 a0001c0001t0022g0021	1	290	0.0035	40	c.427 others(57): Show c.427-1044_427-1043insTCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979642	G G	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp2 HG02615.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0225 a0001c0002t0002g0102 a0001c0002t0001g0225 a0001c0002t0002g0102	2	240	0.0083	40	c.350 others(59): Show c.350-16440_350-16439insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979661	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0072 a0001c0002t0007g0073 a0001c0002t0007g0072 a0001c0002t0007g0073	2	240	0.0083	40	c.350 others(59): Show c.350-16459_350-16458insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GSS_chr20_34923432_34960806	34950013	T T	TCACACAC others(33): Show TCACACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	352	0.0028	40	c.129 others(57): Show c.129+1710_129+1711insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	GSS	ENSG00000100983.12	transcript	ENST00000651619.1	protein_coding	2/12			chr20	TogoVar
GSS_chr20_34923432_34960806	34950013	T T	TCTCACAC others(33): Show TCTCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	352	0.0028	40	c.129 others(57): Show c.129+1710_129+1711insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGAG	GSS	ENSG00000100983.12	transcript	ENST00000651619.1	protein_coding	2/12			chr20	TogoVar
GSS_chr20_34923432_34960806	34950020	C C	CACACACA others(33): Show CACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG02015.hp2 others(11): Show HG00408.hp1 HG00544.hp2 HG02015.hp2 HG02040.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp2 HG03491.hp2 HG03492.hp2 NA18953.hp2 NA18982.hp2 NA18988.hp2 NA19011.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0030 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0077	14	352	0.0398	40	c.129 others(57): Show c.129+1703_129+1704insATGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	GSS	ENSG00000100983.12	transcript	ENST00000651619.1	protein_coding	2/12			chr20	TogoVar
GSTT2B_chr22_23952414_23966195	23954735	T T	TACTTACA others(33): Show TACTTACACACAGTTCACTCACACCACACACATATACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02027.hp2 HG02056.hp2 others(2): Show HG01928.hp2 HG02027.hp2 HG02056.hp2 HG02135.hp2 NA19012.hp2	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0011	a0003c0004 a0004c0006 a0005c0007 others(1): Show a0003c0004 a0004c0006 a0005c0007 a0011c0009	a0003c0004t0001 a0004c0006t0001 a0004c0006t0005 others(2): Show a0003c0004t0001 a0004c0006t0001 a0004c0006t0005 a0005c0007t0001 a0011c0009t0001	a0003c0004t0001g0018 a0004c0006t0001g0023 a0004c0006t0005g0022 others(2): Show a0003c0004t0001g0018 a0004c0006t0001g0023 a0004c0006t0005g0022 a0005c0007t0001g0017 a0011c0009t0001g0020	5	119	0.0420	40	c.29 others(51): Show c.2987_*2988insGGGTGTATATGTGTGTGGTGTGAGTGAACTGTGT GTAAGT	GSTT2B	ENSG00000133433.11	transcript	ENST00000290765.9	protein_coding		2678		chr22	TogoVar
GSTT2B_chr22_23952414_23966195	23954735	T T	TACTTACA others(33): Show TACTTACACACAGTTCACTCACATCACACACATATACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp2 HG01243.hp2 others(12): Show HG01099.hp2 HG01109.hp2 HG01243.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03834.hp2 HG03942.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0002c0010 a0001c0002 a0002c0005 a0002c0010	a0001c0002t0001 a0001c0002t0004 a0002c0005t0004 others(1): Show a0001c0002t0001 a0001c0002t0004 a0002c0005t0004 a0002c0010t0001	a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0012 others(8): Show a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0050 a0001c0002t0004g0055 a0001c0002t0004g0056 a0002c0005t0004g0027 a0002c0005t0004g0029 a0002c0010t0001g0026	15	119	0.1261	40	c.29 others(51): Show c.2987_*2988insGGGTGTATATGTGTGTGATGTGAGTGAACTGTGT GTAAGT	GSTT2B	ENSG00000133433.11	transcript	ENST00000290765.9	protein_coding		2678		chr22	TogoVar
GTDC1_chr2_143933068_144337512	144136395	A A	AAAAGGAA others(33): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18980.hp2 NA19003.hp2 others(1): Show HG00738.hp2 NA18980.hp2 NA19003.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0002c0002t0011	a0001c0001t0002g0014 a0001c0001t0004g0020 a0001c0001t0016g0009 others(1): Show a0001c0001t0002g0014 a0001c0001t0004g0020 a0001c0001t0016g0009 a0002c0002t0011g0039	4	124	0.0323	40	c.521 others(57): Show c.521+5447_521+5486dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTT	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	6/11			chr2	TogoVar
GTF2H5_chr6_158163350_158204344	158169462	T T	TTATATTG others(33): Show TTATATTGTATATTATATATAATATATTGTATATTATATAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	384	0.0026	40	c.-34 others(55): Show c.-34-982_-34-943dupTTGTATATTATATAATATATTGTATATTAT ATATAATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF3C1_chr16_27455613_27554913	27525185	T T	TAAAAGAA others(33): Show TAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp1 HG02145.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	2	220	0.0091	40	c.973 others(57): Show c.973+3412_973+3413insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTT	GTF3C1	ENSG00000077235.18	transcript	ENST00000356183.9	protein_coding	6/36			chr16	TogoVar
GTF3C2_chr2_27320854_27361764	27358735	C C	CACCTCTC others(33): Show CACCTCTCTACCTCTCTACCTCTCTACCTCTCTACCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02080.hp2 HG02735.hp1 others(1): Show HG00741.hp2 HG02080.hp2 HG02735.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0212 a0001c0002t0001g0240 a0001c0002t0001g0022 a0001c0002t0001g0212 a0001c0002t0001g0240	4	286	0.0140	40	c.-20 others(51): Show c.-2022_-2021insAGAGAGGTAGAGAGGTAGAGAGGTAGAGAGGTAG AGAGGT	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding		1972		chr2	TogoVar
GTPBP2_chr6_43615494_43634264	43632989	T T	TCCAGCCT others(33): Show TCCAGCCTGGGCAACACGAGCAAAACTCCATCTAAAAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02809.hp1 HG03209.hp1 others(4): Show HG02486.hp2 HG02809.hp1 HG03209.hp1 HG03209.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0007 a0001c0003t0001 a0001c0003t0006 a0001c0003t0007	a0001c0003t0001g0021 a0001c0003t0001g0037 a0001c0003t0001g0040 others(3): Show a0001c0003t0001g0021 a0001c0003t0001g0037 a0001c0003t0001g0040 a0001c0003t0001g0073 a0001c0003t0006g0032 a0001c0003t0007g0033	7	382	0.0183	40	c.-38 others(51): Show c.-3867_-3828dupTTGTTTTTAGATGGAGTTTTGCTCGTGTTGCCCA GGCTGG	GTPBP2	ENSG00000172432.19	transcript	ENST00000307126.10	protein_coding		3726		chr6	TogoVar
GTPBP4_chr10_983434_1024932	1016879	G G	GTAACTGT others(33): Show GTAACTGTGCTGGGCTTAAGAGAAAAGAGATGTAACAGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0075 a0002c0003t0007g0075	1	370	0.0027	40	c.175 others(57): Show c.1753-156_1753-117dupATAACTGTGCTGGGCTTAAGAGAAAAGA GATGTAACAGGG	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1020227	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	370	0.0027	40	c.30 others(51): Show c.3000_*3001insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding		296		chr10	TogoVar
GUCA1B_chr6_42178284_42199956	42188902	A A	ATCTATCT others(33): Show ATCTATCTATCTATCTATCTATCTATCTATCTATCTATATC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02818.hp1 others(1): Show HG02630.hp1 HG02723.hp2 HG02818.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0014 a0001c0002t0015 a0001c0002t0006 a0001c0002t0014 a0001c0002t0015	a0001c0002t0006g0117 a0001c0002t0006g0158 a0001c0002t0014g0169 others(1): Show a0001c0002t0006g0117 a0001c0002t0006g0158 a0001c0002t0014g0169 a0001c0002t0015g0116	4	418	0.0096	40	c.208 others(55): Show c.208-172_208-171insGATATAGATAGATAGATAGATAGATAGATA GATAGATAGA	GUCA1B	ENSG00000112599.9	transcript	ENST00000230361.4	protein_coding	1/3			chr6	TogoVar
GYG2_chrX_2823930_2887818	2845095	A A	ATATACAC others(33): Show ATATACACATGTGTATGTATATTTATATACACATGTGTATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0266 a0001c0001t0009g0270 a0001c0001t0009g0266 a0001c0001t0009g0270	2	316	0.0063	40	c.149 others(57): Show c.149+1742_149+1743insATACACATGTGTATGTATATTTATATAC ACATGTGTATGT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GZMM_chr19_539053_554922	540817	G G	GGAGGCCG others(33): Show GGAGGCCGGGGTGGCCAGGCCCCTGGGTTTAGAATCCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02572.hp1 others(2): Show HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0001c0001t0001 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0002t0001g0056 others(2): Show a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0002t0001g0056 a0003c0004t0001g0052 a0003c0004t0001g0053	5	398	0.0126	40	c.-32 others(51): Show c.-3255_-3254insGAGGCCGGGGTGGCCAGGCCCCTGGGTTTAGAAT CCTGCT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3235		chr19	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03942.hp1 HG01069.hp1 HG01071.hp2 HG03942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	3	422	0.0071	40	c.-46 others(51): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	1	422	0.0024	40	c.-46 others(51): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar
H1-8_chr3_129538175_129556467	129538525	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	422	0.0024	40	c.-46 others(51): Show c.-4694_-4693insCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCC TTCCTT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		4649		chr3	TogoVar

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Search Results (Total: 6641 hits)