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
BTBD19_chr1_44803523_44820585	44814450	A A	ATAAGCAG others(26): Show ATAAGCAGGCAGACAGAAAACATCTAGGCCACGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0039 a0001c0001t0069g0039	1	436	0.0023	33	c.67 others(42): Show c.678_*679insTAAGCAGGCAGACAGAAAACATCTAGGCCACGC	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	679		chr1	TogoVar
BTBD2_chr19_1980448_2020714	2017817	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0240 a0001c0003t0001g0240	1	364	0.0028	33	c.-21 others(44): Show c.-2115_-2114insAAAAAAATATATATATATATATATATATATATA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2104		chr19	TogoVar
BTBD2_chr19_1980448_2020714	2017817	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0333 a0001c0036t0001g0333	1	364	0.0028	33	c.-21 others(44): Show c.-2115_-2114insAAAAAAAAAAAAATATATATATATATATATATA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2104		chr19	TogoVar
BTC_chr4_74739759_74799523	74798909	T T	TGTTTTTG others(26): Show TGTTTTTGAGACAGAGTCTCAGTCTGTTGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03195.hp2 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0109 a0001c0001t0001g0110	2	360	0.0056	33	c.-45 others(44): Show c.-4585_-4584insCTGGGCAACAGACTGAGACTCTGTCTCAAAAAC	BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding		4387		chr4	TogoVar
BTD_chr3_15596745_15658714	15656442	C C	CGGGAGGA others(26): Show CGGGAGGACTAGGGAGGGGATTTGCTTTAAGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0004 a0001c0001t0056g0004	1	416	0.0024	33	c.10 others(46): Show c.10954_*10955insGGGAGGACTAGGGAGGGGATTTGCTTTAAGTA T	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		2729		chr3	TogoVar
BTRC_chr10_101349165_101562313	101387528	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	266	0.0038	33	c.48+ others(50): Show c.48+33318_48+33319insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101549713	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	266	0.0038	33	c.165 others(50): Show c.1657-963_1657-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB1B_chr15_40156069_40226123	40172120	T T	TAAAGTAA others(26): Show TAAAGTAATAAAGTAAGAAATAAATTTCTTACTA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0250 a0002c0001t0002g0250	1	352	0.0028	33	c.384 others(50): Show c.384+1476_384+1508dupGTAATAAAGTAAGAAATAAATTTCTTAC TAAAA	BUB1B	ENSG00000156970.13	transcript	ENST00000287598.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
BUB3_chr10_123149402_123175467	123156753	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0047 a0001c0001t0029g0047	1	418	0.0024	33	c.266 others(48): Show c.266-965_266-964insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf67_chr10_23197696_23349797	23308386	T T	TCCCCCCC others(26): Show TCCCCCCCTCCCCCCCCTCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	326	0.0031	33	c.547 others(50): Show c.547-4928_547-4927insGGGGGGGGGGGGGGGGAGGGGGGGGAGG GGGGG	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	4/15			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126532842	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19000.hp1 NA19000.hp2 others(1): Show NA18941.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0002 a0005c0006 a0001c0001 a0003c0002 a0005c0006	a0001c0001t0001 a0003c0002t0004 a0005c0006t0009 a0001c0001t0001 a0003c0002t0004 a0005c0006t0009	a0001c0001t0001g0066 a0003c0002t0004g0084 a0005c0006t0009g0088 others(1): Show a0001c0001t0001g0066 a0003c0002t0004g0084 a0005c0006t0009g0088 a0005c0006t0009g0130	4	218	0.0184	33	c.314 others(52): Show c.314-18904_314-18903insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	422	0.0024	33	c.57 others(44): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C11orf71_chr11_114393532_114405511	114394243	T T	TTTTCTTT others(26): Show TTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01496.hp1 HG01106.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	2	422	0.0047	33	c.57 others(44): Show c.5716_*5717insGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4288		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTTCT others(26): Show TTCTTTCTTCTTCTTCTTCTTCTTCTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG03130.hp2 others(1): Show HG02109.hp1 HG02451.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0004 a0001c0001t0001g0031 a0001c0001t0001g0032	4	360	0.0111	33	c.686 others(50): Show c.686+3205_686+3206insCTTTCTTCTTCTTCTTCTTCTTCTTCTT TTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf56_chr12_64259762_64395758	64308940	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18951.hp2 HG01515.hp1 NA18951.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0003 a0003c0004t0001 a0002c0002t0003 a0003c0004t0001	a0002c0002t0003g0219 a0003c0004t0001g0009 a0002c0002t0003g0219 a0003c0004t0001g0009	2	312	0.0064	33	c.968 others(50): Show c.968+3738_968+3739insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	5/12			chr12	TogoVar
C14orf39_chr14_60430956_60491063	60434705	A A	ATAGTTAT others(26): Show ATAGTTATATATTATAGTTATAATAATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01106.hp1 others(71): Show HG00408.hp1 HG00642.hp1 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp1 HG04228.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18989.hp1 NA19003.hp1 NA19004.hp1 NA19011.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19083.hp1 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0003 a0004 a0008 a0003 a0004 a0008	a0003c0004 a0004c0003 a0008c0008 a0003c0004 a0004c0003 a0008c0008	a0003c0004t0002 a0003c0004t0004 a0003c0004t0005 others(4): Show a0003c0004t0002 a0003c0004t0004 a0003c0004t0005 a0003c0004t0007 a0004c0003t0002 a0004c0003t0008 a0008c0008t0005	a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0033 others(46): Show a0003c0004t0002g0005 a0003c0004t0002g0008 a0003c0004t0002g0033 a0003c0004t0002g0036 a0003c0004t0002g0038 a0003c0004t0002g0166 a0003c0004t0002g0167 a0003c0004t0002g0168 a0003c0004t0002g0171 a0003c0004t0002g0172 a0003c0004t0002g0173 a0003c0004t0002g0177 a0003c0004t0002g0179 a0003c0004t0002g0190 a0003c0004t0002g0196 a0003c0004t0002g0197 a0003c0004t0002g0198 a0003c0004t0002g0199 a0003c0004t0004g0200 a0003c0004t0004g0201 a0003c0004t0005g0164 a0003c0004t0007g0195 a0004c0003t0002g0004 a0004c0003t0002g0009 a0004c0003t0002g0032 a0004c0003t0002g0034 a0004c0003t0002g0035 a0004c0003t0002g0037 a0004c0003t0002g0169 a0004c0003t0002g0170 a0004c0003t0002g0174 a0004c0003t0002g0175 a0004c0003t0002g0176 a0004c0003t0002g0178 a0004c0003t0002g0180 a0004c0003t0002g0181 a0004c0003t0002g0183 a0004c0003t0002g0184 a0004c0003t0002g0185 a0004c0003t0002g0186 a0004c0003t0002g0187 a0004c0003t0002g0189 a0004c0003t0002g0191 a0004c0003t0002g0192 a0004c0003t0002g0193 a0004c0003t0002g0194 a0004c0003t0002g0202 a0004c0003t0008g0188 a0008c0008t0005g0163	74	294	0.2517	33	c.21 others(44): Show c.2139_*2140insATAATATATTATTATAACTATAATATATAACTA	C14orf39	ENSG00000179008.9	transcript	ENST00000321731.8	protein_coding		1250		chr14	TogoVar
C17orf78_chr17_37370985_37397708	37390304	T T	TTTTATAT others(26): Show TTTTATATATATATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01952.hp2 HG01109.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0120 a0001c0001t0004g0060 a0001c0001t0001g0120 a0001c0001t0004g0060	2	441	0.0045	33	c.750 others(48): Show c.750+943_750+944insTTATATATATATATATTATATATATATATA TAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C19orf38_chr19_10843415_10874790	10871637	G G	GGCGGCGG others(26): Show GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	384	0.0026	33	c.22 others(44): Show c.2270_*2271insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA	C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding		1848		chr19	TogoVar
C1QTNF6_chr22_37175166_37193247	37191987	G G	GTTATACT others(26): Show GTTATACTTTTATTCCATATTTAATTTATGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0078 a0001c0001t0023g0078	1	446	0.0022	33	c.-38 others(44): Show c.-3807_-3775dupTTTCCATAAATTAAATATGGAATAAAAGTATAA	C1QTNF6	ENSG00000133466.14	transcript	ENST00000337843.7	protein_coding		3741		chr22	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTATATA others(26): Show TTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	452	0.0022	33	c.57- others(48): Show c.57-2039_57-2038insTATATATATATATATATATATATATATATA TAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078805	A A	AGGCTGAG others(26): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	326	0.0031	33	c.40 others(44): Show c.4087_*4088insCTCCCCCCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3017		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1108790	C C	CGTTCACC others(26): Show CGTTCACCACAGCCACCATGTCTGCAGCAGCATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG03130.hp1 HG02630.hp2 HG02922.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0001g0010 a0001c0001t0002g0238 a0001c0001t0002g0239	3	326	0.0092	33	c.-13 others(52): Show c.-136+7237_-136+7269dupAATGCTGCTGCAGACATGGTGGCTGT GGTGAAC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding	1/9			chr1	TogoVar
C1orf185_chr1_51097228_51153086	51111370	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	248	0.0040	33	c.17- others(48): Show c.17-1091_17-1090insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	C1orf185	ENSG00000204006.11	transcript	ENST00000371759.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184559603	C C	CTTCCTTC others(26): Show CTTCCTTCCTCCCTCCCTCCCTCCCTTACTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp2 HG01255.hp1 others(14): Show HG00741.hp2 HG01109.hp2 HG01255.hp1 HG01516.hp2 HG01517.hp1 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03225.hp1 HG03688.hp2 HG04204.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0038 a0001c0001t0057 a0001c0001t0062 a0001c0001t0063	a0001c0001t0007g0024 a0001c0001t0007g0137 a0001c0001t0007g0212 others(14): Show a0001c0001t0007g0024 a0001c0001t0007g0137 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0009g0058 a0001c0001t0009g0059 a0001c0001t0009g0060 a0001c0001t0009g0144 a0001c0001t0011g0186 a0001c0001t0011g0187 a0001c0001t0011g0188 a0001c0001t0019g0096 a0001c0001t0019g0146 a0001c0001t0038g0003 a0001c0001t0057g0095 a0001c0001t0062g0061 a0001c0001t0063g0166	17	232	0.0733	33	c.190 others(52): Show c.190-31129_190-31097dupCCTCCCTCCCTCCCTCCCTTACTTTC TTTCCTT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf54_chr1_150267790_150285916	150284003	T T	TTTATTAT others(26): Show TTTATTATTATTATTATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	434	0.0023	33	c.31 others(44): Show c.3172_*3173insTTATTATTATTATTATTATTATTATTATTATTA	C1orf54	ENSG00000118292.9	transcript	ENST00000369099.8	protein_coding		3088		chr1	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG02004.hp1 others(8): Show HG00639.hp2 HG01361.hp2 HG02004.hp1 HG02080.hp1 HG02647.hp2 HG02818.hp2 NA18975.hp1 NA19012.hp2 NA19078.hp2 NA19080.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0092 a0002c0002t0001g0093 others(8): Show a0002c0002t0001g0083 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0104 a0002c0002t0001g0125 a0002c0002t0001g0130 a0002c0002t0001g0138 a0002c0002t0001g0151 a0002c0002t0001g0157 a0002c0002t0001g0165	11	378	0.0291	33	c.35 others(44): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32146142	A A	ATATTATA others(26): Show ATATTATATTATATAATATAACATATATATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	398	0.0025	33	c.33 others(44): Show c.3397_*3398insAATAATATATATGTTATATTATATAATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2863		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0012 a0002c0007t0002g0012	1	398	0.0025	33	c.16 others(44): Show c.1637_*1638insAAAAAAATATATATATATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0012 a0002c0007t0002g0012	1	398	0.0025	33	c.16 others(44): Show c.1637_*1638insAAAAAAAAATATATATATATATATATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(26): Show TTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0324 a0001c0002t0021g0324	1	396	0.0025	33	c.280 others(50): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAGG AGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(26): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	396	0.0025	33	c.280 others(50): Show c.280-4893_280-4892insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD4C_chr19_400445_414147	404125	T T	TGGGGGGG others(26): Show TGGGGGGGACGGGGTCCTGTCCCGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0029 a0001c0001t0012g0029	1	322	0.0031	33	c.29 others(44): Show c.2970_*2971insTCACACCCCTCGGGACAGGACCCCGTCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1319		chr19	TogoVar
C2CD4C_chr19_400445_414147	404139	T T	TCCTGTCC others(26): Show TCCTGTCCCGAGGGGTGTGAGGGGGGGACGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02886.hp2 others(5): Show HG01891.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG03453.hp2 HG04199.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0041 a0001c0001t0052 others(5): Show a0001c0001t0015 a0001c0001t0041 a0001c0001t0052 a0001c0001t0090 a0001c0001t0113 a0001c0001t0133 a0001c0002t0059 a0001c0002t0121	a0001c0001t0015g0010 a0001c0001t0041g0034 a0001c0001t0052g0158 others(5): Show a0001c0001t0015g0010 a0001c0001t0041g0034 a0001c0001t0052g0158 a0001c0001t0090g0049 a0001c0001t0113g0063 a0001c0001t0133g0106 a0001c0002t0059g0123 a0001c0002t0121g0135	8	322	0.0248	33	c.29 others(44): Show c.2956_*2957insGCCCCGTCCCCCCCTCACACCCCTCGGGACAGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1305		chr19	TogoVar
C2CD4C_chr19_400445_414147	404964	G G	GGGGACGG others(26): Show GGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 NA18747.hp2 HG02004.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0140 a0001c0001t0006 a0001c0001t0140	a0001c0001t0006g0005 a0001c0001t0140g0113 a0001c0001t0006g0005 a0001c0001t0140g0113	2	322	0.0062	33	c.21 others(44): Show c.2131_*2132insTCCCCCACACCCCTCAAGGCAGGACCCCGTCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		480		chr19	TogoVar
C2CD4C_chr19_400445_414147	405002	T T	TGGGGTCC others(26): Show TGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01884.hp1 others(17): Show HG00140.hp2 HG01123.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG02055.hp2 HG02280.hp2 HG02622.hp2 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG04199.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 others(16): Show a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0032 a0001c0001t0041 a0001c0001t0052 a0001c0001t0081 a0001c0001t0090 a0001c0001t0093 a0001c0001t0103 a0001c0001t0125 a0001c0001t0133 a0001c0002t0012 a0001c0002t0059 a0001c0002t0063 a0001c0002t0067 a0001c0002t0082 a0001c0002t0121 a0001c0004t0004	a0001c0001t0012g0029 a0001c0001t0014g0009 a0001c0001t0016g0014 others(16): Show a0001c0001t0012g0029 a0001c0001t0014g0009 a0001c0001t0016g0014 a0001c0001t0032g0030 a0001c0001t0041g0034 a0001c0001t0052g0158 a0001c0001t0081g0074 a0001c0001t0090g0049 a0001c0001t0093g0149 a0001c0001t0103g0083 a0001c0001t0125g0100 a0001c0001t0133g0106 a0001c0002t0012g0025 a0001c0002t0059g0123 a0001c0002t0063g0126 a0001c0002t0067g0128 a0001c0002t0082g0055 a0001c0002t0121g0135 a0001c0004t0004g0004	20	322	0.0621	33	c.20 others(44): Show c.2093_*2094insGTCCCCCCTCCACACCCCTCAGGGCAGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		442		chr19	TogoVar
C2CD4C_chr19_400445_414147	405043	C C	CCCTGAGG others(26): Show CCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0010 a0001c0001t0015g0010	1	322	0.0031	33	c.20 others(44): Show c.2052_*2053insACAGGACCCCGTCCCCCCTCCACACCCCTCAGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		401		chr19	TogoVar
C2orf69_chr2_199906293_199933273	199913285	T T	TTATATAA others(26): Show TTATATAATATATATTCTATTATAATATATATTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00738.hp2 others(7): Show HG00280.hp2 HG00423.hp1 HG00738.hp2 HG00741.hp1 HG01256.hp2 HG01258.hp1 HG01891.hp2 HG01978.hp2 HG02273.hp1 HG02735.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0009c0007t0010	a0001c0001t0001g0217 a0001c0001t0003g0163 a0001c0001t0003g0164 others(6): Show a0001c0001t0001g0217 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0004g0066 a0009c0007t0010g0093	10	412	0.0243	33	c.333 others(50): Show c.333+1560_333+1592dupATTCTATTATAATATATATTATATATAA TATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf69_chr2_199906293_199933273	199913308	A A	AATATATA others(26): Show AATATATATTATATATAATATATATTCTATTATG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01975.hp1 others(2): Show HG01257.hp2 HG01258.hp2 HG01975.hp1 HG02004.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0031 a0001c0001t0003g0212 a0001c0001t0003g0213	5	412	0.0121	33	c.333 others(50): Show c.333+1569_333+1570insGATATATATTATATATAATATATATTCT ATTAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf20_chr3_14670141_14778036	14773557	A A	AGGGGAGG others(26): Show AGGGGAGGGAGGAGGGGAACAAGTAAGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp2 others(24): Show HG00140.hp2 HG01070.hp2 HG01071.hp2 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02165.hp2 HG02258.hp1 HG02559.hp2 HG02647.hp2 HG02809.hp2 HG03195.hp1 HG03834.hp2 NA18939.hp2 NA18945.hp2 NA18952.hp1 NA18961.hp2 NA18968.hp2 NA18977.hp2 NA18986.hp2 NA19007.hp2 NA19043.hp2 NA19054.hp2 NA19079.hp1 NA19083.hp1 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0015 a0025	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0006c0006 a0009c0011 a0010c0010 a0015c0032 a0025c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0005c0004t0001 a0006c0006t0001 a0009c0011t0002 a0010c0010t0001 a0015c0032t0001 a0025c0020t0001	a0001c0001t0001g0351 a0001c0001t0002g0095 a0001c0001t0003g0010 others(23): Show a0001c0001t0001g0351 a0001c0001t0002g0095 a0001c0001t0003g0010 a0001c0001t0003g0012 a0002c0002t0001g0266 a0002c0002t0001g0363 a0003c0003t0001g0003 a0003c0003t0001g0203 a0003c0003t0001g0204 a0004c0005t0001g0004 a0005c0004t0001g0143 a0005c0004t0001g0146 a0005c0004t0001g0185 a0005c0004t0001g0187 a0005c0004t0001g0188 a0005c0004t0001g0195 a0005c0004t0001g0197 a0005c0004t0001g0216 a0005c0004t0001g0217 a0005c0004t0001g0226 a0006c0006t0001g0180 a0006c0006t0001g0223 a0009c0011t0002g0041 a0010c0010t0001g0213 a0015c0032t0001g0004 a0025c0020t0001g0016	27	380	0.0711	33	c.68 others(42): Show c.682_*683insGGGGAGGGAGGAGGGGAACAAGTAAGGAGGGAG	C3orf20	ENSG00000131379.10	transcript	ENST00000253697.8	protein_coding		522		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185079280	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02647.hp2 NA18986.hp1 others(1): Show HG02004.hp2 HG02647.hp2 NA18986.hp1 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0140 a0002c0002t0028 a0002c0002t0140	a0002c0002t0028g0261 a0002c0002t0028g0280 a0002c0002t0028g0358 others(1): Show a0002c0002t0028g0261 a0002c0002t0028g0280 a0002c0002t0028g0358 a0002c0002t0140g0376	4	388	0.0103	33	c.37 others(44): Show c.3726_*3727insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	2/2	3726		chr3	TogoVar
C3orf70_chr3_185071838_185158060	185120033	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAGAAAAAGAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0011 a0001c0001t0115g0011	1	388	0.0026	33	c.196 others(52): Show c.196+32594_196+32595insCTTTCTTTTTTTTTCTTTTTCTTTTT TTTTTTT	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	358	0.0028	33	c.715 others(50): Show c.715-1621_715-1620insATATATATATATATATATATATATATAT ATATT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf50_chr4_5954375_6023431	6003860	G G	GTGATGGT others(26): Show GTGATGGTGATGATGGTGATGGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19001.hp1 NA19080.hp1 NA18949.hp1 NA19001.hp1 NA19080.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0006 a0001c0001 a0008c0006	a0001c0001t0000 a0008c0006t0000 a0001c0001t0000 a0008c0006t0000	a0001c0001t0000g0153 a0001c0001t0000g0170 a0008c0006t0000g0109 a0001c0001t0000g0153 a0001c0001t0000g0170 a0008c0006t0000g0109	3	346	0.0087	33	c.963 others(50): Show c.963+4135_963+4136insTCACCATCATCACCATCACCATCATCAC CATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C5orf46_chr5_147887722_147911538	147911208	G G	GTCTTCTA others(26): Show GTCTTCTATTCTATTCTATTCTATTCTATTCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0017 a0002c0004t0001g0017	1	452	0.0022	33	c.-47 others(44): Show c.-4708_-4707insATAGAATAGAATAGAATAGAATAGAATAGAAGA	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		4671		chr5	TogoVar
C7_chr5_40904497_40989643	40926953	A A	AAAAAGAA others(26): Show AAAAAGAACAAAGCTGGAGGTGTTACTCTGCCTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02965.hp2 others(2): Show HG02630.hp2 HG02886.hp1 HG02965.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0020 a0001c0001t0036 a0001c0001t0037 others(1): Show a0001c0001t0020 a0001c0001t0036 a0001c0001t0037 a0001c0025t0035	a0001c0001t0020g0369 a0001c0001t0020g0370 a0001c0001t0036g0368 others(2): Show a0001c0001t0020g0369 a0001c0001t0020g0370 a0001c0001t0036g0368 a0001c0001t0037g0366 a0001c0025t0035g0367	5	380	0.0132	33	c.7-1 others(46): Show c.7-1625_7-1593dupAAAGAACAAAGCTGGAGGTGTTACTCTGCCTG A	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C8A_chr1_56849797_56923223	56870681	T T	TAAATTAA others(26): Show TAAATTAAATTAAATTAAATTAAATTAAATTAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	366	0.0027	33	c.171 others(50): Show c.171+2979_171+2980insAAATTAAATTAAATTAAATTAAATTAAA TTAAA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	2/10			chr1	TogoVar
C8orf34_chr8_68325955_68824023	68332351	T T	TCCCGCCT others(26): Show TCCCGCCTTGCCCCCGCCTTGCCCCCGCCTTGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01081.hp1 others(37): Show HG00558.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG02055.hp1 HG02165.hp2 HG02258.hp1 HG02615.hp1 HG02698.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp2 HG04204.hp2 NA18522.hp1 NA18961.hp2 NA18983.hp2 NA19009.hp2 NA19030.hp2 NA19062.hp2 NA19084.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0013 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0001 a0002c0013t0001 a0010c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 others(37): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0088 a0001c0001t0003g0023 a0001c0001t0003g0112 a0001c0002t0001g0010 a0001c0002t0001g0093 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0002g0006 a0001c0002t0002g0014 a0001c0002t0002g0018 a0001c0002t0003g0091 a0001c0002t0003g0092 a0002c0003t0001g0031 a0002c0003t0001g0087 a0002c0003t0002g0015 a0002c0003t0002g0026 a0002c0003t0002g0109 a0002c0003t0005g0062 a0002c0004t0001g0019 a0002c0004t0001g0104 a0002c0013t0001g0095 a0010c0016t0001g0013	40	128	0.3125	33	c.327 others(50): Show c.327+1019_327+1051dupTTGCCCCCGCCTTGCCCCCGCCTTGCCC CCGCC	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
CA10_chr17_51625320_52163714	51831667	A A	AAGCAGCA others(26): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCATC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	156	0.0064	33	c.280 others(52): Show c.280-83850_280-83849insGATGCTGCTGCTGCTGCTGCTGCTGC TGCTGCT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA5A_chr16_87883013_87941529	87937802	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	400	0.0025	33	c.-13 others(44): Show c.-1353_-1352insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1274		chr16	TogoVar
CAB39L_chr13_49303650_49449064	49441226	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0104	1	324	0.0031	33	c.-24 others(52): Show c.-246+2759_-246+2760insTATATATATATATATATATATATATA TATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar

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Search Results (Total: 4928 hits)