Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CAPZA1_chr1_112614832_112676616	112639866	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18991.hp1 NA19004.hp2 others(2): Show NA18957.hp2 NA18991.hp1 NA19004.hp2 NA19058.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0224 others(2): Show a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0224 a0001c0001t0010g0226 a0001c0001t0010g0253	5	368	0.0136	-47	c.40- others(62): Show c.40-7338_40-7292delTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGG		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERG_chr19_38330830_38375943	38344804	ATATAGTA others(40): Show ATATAGTACATACCTGTACATACATATATATGTATATACCTGTACATG	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02135.hp1 HG02004.hp2 HG02135.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0122 a0003c0004t0001g0131 a0003c0004t0001g0122 a0003c0004t0001g0131	2	376	0.0053	-47	c.669 others(62): Show c.669+437_669+483delTATAGTACATACCTGTACATACATATATAT GTATATACCTGTACATG		CATSPERG	ENSG00000099338.23	transcript	ENST00000409235.8	protein_coding	6/28						chr19	TogoVar
CAV1_chr7_116520036_116566179	116555497	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01515.hp1 HG01517.hp1 HG00408.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0245	3	342	0.0088	-47	c.196 others(64): Show c.196-3446_196-3400delGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAGAGAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555501	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03490.hp1 HG01891.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0002g0324 a0001c0001t0001g0098 a0001c0001t0002g0324	2	342	0.0059	-47	c.196 others(64): Show c.196-3442_196-3396delGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAGAGAGAGAAAGAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116499551	TGCGCCCC others(40): Show TGCGCCCCGGCGGGGGAGGTGGGCGGGGAGGGGCGGCGGGGCGCCGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	374	0.0027	-47	c.-23 others(56): Show c.-230_-184delGCGCCCCGGCGGGGGAGGTGGGCGGGGAGGGGCGGC GGGGCGCCGGG		CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding					186		chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88894407	ACACACAT others(40): Show ACACACATGCATACATATACACATGCACACAATGTACACACATGCACG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG03209.hp2 HG02559.hp1 HG02717.hp2 HG03209.hp2	a0001 a0001	a0001c0009 a0001c0015 a0001c0009 a0001c0015	a0001c0009t0007 a0001c0009t0015 a0001c0015t0007 a0001c0009t0007 a0001c0009t0015 a0001c0015t0007	a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0015t0007g0115 a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0015t0007g0115	3	284	0.0106	-47	c.380 others(64): Show c.380-1969_380-1923delCGTGCATGTGTGTACATTGTGTGCATGT GTATATGTATGCATGTGTG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	GCACACAT others(40): Show GCACACATGCATACATATACACATGCACACAATGTACACACATGCACA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 NA18522.hp2 others(1): Show HG02258.hp1 HG02896.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0003 a0001c0001t0033 a0001c0002t0003	a0001c0001t0033g0116 a0001c0002t0003g0087 a0001c0002t0003g0090 others(1): Show a0001c0001t0033g0116 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0168	4	284	0.0141	-47	c.380 others(64): Show c.380-2016_380-1970delTGTGCATGTGTGTACATTGTGTGCATGT GTATATGTATGCATGTGTG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88894559	CACACACA others(40): Show CACACACATGCACACACACATGCATACATATACACATGCACACAATGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02717.hp2 others(4): Show HG02258.hp1 HG02559.hp1 HG02717.hp2 HG02896.hp1 HG03209.hp2 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0015	a0001c0001t0033 a0001c0002t0003 a0001c0009t0007 others(2): Show a0001c0001t0033 a0001c0002t0003 a0001c0009t0007 a0001c0009t0015 a0001c0015t0007	a0001c0001t0033g0116 a0001c0002t0003g0087 a0001c0002t0003g0090 others(4): Show a0001c0001t0033g0116 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0168 a0001c0009t0007g0100 a0001c0009t0015g0083 a0001c0015t0007g0115	7	284	0.0247	-47	c.380 others(64): Show c.380-2121_380-2075delACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGT		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11						chr16	TogoVar
CCDC148_chr2_158166073_158461753	158461506	TTAAAATG others(40): Show TTAAAATGTGGAAGTGTCTGAGTTATTGTAAGTCATGTGATTGCAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	264	0.0038	-47	c.-51 others(58): Show c.-5114_-5068delCTTTGCAATCACATGACTTACAATAACTCAGACA CTTCCACATTTTA		CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding					4754		chr2	TogoVar
CCDC166_chr8_143701694_143713109	143702818	CTGTGTTT others(40): Show CTGTGTTTTCTGGTTGGTTGTTGGGTCTTTGGTGTTCGAGTCATTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	423	0.0024	-47	c.38 others(58): Show c.3829_*3875delAGAAATGACTCGAACACCAAAGACCCAACAACCA ACCAGAAAACACA		CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding					3875		chr8	TogoVar
CCDC166_chr8_143701694_143713109	143702959	TTGTGTTT others(40): Show TTGTGTTTTCTGGTTGGTTGTTGGGTCTTTGGTGTTCAAGTCGTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp2 HG03704.hp2 others(1): Show HG03688.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	4	423	0.0095	-47	c.36 others(58): Show c.3688_*3734delGGAAACGACTTGAACACCAAAGACCCAACAACCA ACCAGAAAACACA		CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding					3734		chr8	TogoVar
CCDC166_chr8_143701694_143713109	143702979	TTGGGTCT others(40): Show TTGGGTCTTTGGTGTTCAAGTCGTTTCCTGTGTTTTCTGGTTGGTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(130): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG01071.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18991.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0010	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0004c0006 a0006c0007 a0007c0008 a0008c0009 a0010c0011	a0001c0001t0000 a0002c0002t0000 a0003c0003t0000 others(5): Show a0001c0001t0000 a0002c0002t0000 a0003c0003t0000 a0004c0006t0000 a0006c0007t0000 a0007c0008t0000 a0008c0009t0000 a0010c0011t0000	a0001c0001t0000g0001 a0001c0001t0000g0009 a0001c0001t0000g0013 others(7): Show a0001c0001t0000g0001 a0001c0001t0000g0009 a0001c0001t0000g0013 a0002c0002t0000g0002 a0003c0003t0000g0003 a0004c0006t0000g0006 a0006c0007t0000g0007 a0007c0008t0000g0008 a0008c0009t0000g0010 a0010c0011t0000g0012	133	423	0.3144	-47	c.36 others(58): Show c.3668_*3714delCCAACCAACCAGAAAACACAGGAAACGACTTGAA CACCAAAGACCCA		CCDC166	ENSG00000255181.3	transcript	ENST00000542437.1	protein_coding					3714		chr8	TogoVar
CCDC50_chr3_191324394_191403659	191337142	AATTTTTT others(40): Show AATTTTTTGCGACCTGATACTAGACAGAAAAAAAAAAAAGATTTGTTT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0045 a0003c0004t0045	a0003c0004t0045g0132 a0003c0004t0045g0132	1	406	0.0025	-47	c.49+ others(62): Show c.49+7420_49+7466delATTTTTTGCGACCTGATACTAGACAGAAAA AAAAAAAAGATTTGTTT		CCDC50	ENSG00000152492.15	transcript	ENST00000392455.9	protein_coding	1/11						chr3	TogoVar
CCL17_chr16_57399767_57421063	57403149	ATATATAT others(40): Show ATATATATAATATATATTATTATCTATAATATATATAATATATATTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG06807.hp2 HG02257.hp2 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0049 a0001c0003t0001g0022 a0001c0003t0001g0049	3	388	0.0077	-47	c.-17 others(58): Show c.-1746_-1700delTATATATAATATATATTATTATCTATAATATATA TAATATATATTAT		CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding					1617		chr16	TogoVar
CCL3_chr17_36083256_36095143	36092717	CAAATTTT others(40): Show CAAATTTTTATTTCACGCTAATGATAGATTAGCAACTACACAAATTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	381	0.0026	-47	c.-27 others(58): Show c.-2706_-2660delAAAATTTGTGTAGTTGCTAATCTATCATTAGCGT GAAATAAAAATTT		CCL3	ENSG00000277632.2	transcript	ENST00000613922.2	protein_coding					2575		chr17	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310603	GGGGGGCC others(40): Show GGGGGGCCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02293.hp1 HG03669.hp1 HG02056.hp1 HG02293.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0057 a0001c0001t0002g0090 a0001c0001t0002g0001 a0001c0001t0002g0057 a0001c0001t0002g0090	3	418	0.0072	-47	c.90 others(56): Show c.900_*946delACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGGCCCCC		CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding					766		chr14	TogoVar
CD200_chr3_112328156_112367812	112342305	CCTTTCTT others(40): Show CCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18747.hp1 HG03239.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	408	0.0049	-47	c.94+ others(62): Show c.94+1330_94+1376delCTTTCTTTCTTTCTTTCTTTCTTTCCTTCT TTCTTTCTTTCTTTCTT		CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
CD200_chr3_112328156_112367812	112342313	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02040.hp1 HG02083.hp1 others(25): Show HG00140.hp1 HG02040.hp1 HG02083.hp1 HG02132.hp1 HG02486.hp2 HG02723.hp2 HG02965.hp2 HG03139.hp1 HG03540.hp1 HG03831.hp1 HG04184.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18954.hp1 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp2 NA19030.hp1 NA19068.hp1 NA19074.hp1 NA19086.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0016	a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0185 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0223 a0001c0001t0001g0257 a0001c0001t0002g0160 a0001c0001t0002g0221 a0001c0001t0009g0222 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0102 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0197 a0001c0002t0016g0051	28	408	0.0686	-47	c.94+ others(62): Show c.94+1331_94+1377delTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCTTTCTTTCTTTCTTT		CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5						chr3	TogoVar
CD200_chr3_112328156_112367812	112342341	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	408	0.0025	-47	c.94+ others(62): Show c.94+1359_94+1405delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT		CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5						chr3	TogoVar
CD200_chr3_112328156_112367812	112342382	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	408	0.0025	-47	c.94+ others(62): Show c.94+1404_94+1450delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCT		CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
CD38_chr4_15773328_15858232	15790127	CCCTCTCC others(40): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCTCCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19083.hp1 HG03927.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0013 a0001c0001t0005g0014 a0001c0001t0002g0013 a0001c0001t0005g0014	2	344	0.0058	-47	c.233 others(66): Show c.233+11483_233+11529delTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCCCTCTCCCTCCCCCTCC		CD38	ENSG00000004468.13	transcript	ENST00000226279.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
CDC42_chr1_22047709_22106360	22054907	ATATATAT others(40): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0227 a0001c0001t0074g0227	1	352	0.0028	-47	c.-51 others(64): Show c.-51+2167_-51+2213delATATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054909	ATATATAT others(40): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp2 NA18948.hp1 others(2): Show HG00438.hp2 HG02040.hp2 NA18948.hp1 NA18978.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0218 a0001c0001t0003g0011 a0001c0001t0005g0047 others(2): Show a0001c0001t0001g0218 a0001c0001t0003g0011 a0001c0001t0005g0047 a0001c0001t0016g0219 a0001c0001t0016g0293	5	352	0.0142	-47	c.-51 others(64): Show c.-51+2169_-51+2215delATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT		CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDH11_chr16_64938753_65127063	64979575	TGTTGGTG others(40): Show TGTTGGTGAGAATGTGGAGAAACTGGAACTCTCATATATTGTTGATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0046 a0003c0018t0046	a0003c0018t0046g0254 a0003c0018t0046g0254	1	308	0.0033	-47	c.125 others(66): Show c.1253+2426_1253+2472delTTATCAACAATATATGAGAGTTCCAG TTTCTCCACATTCTCACCAAC		CDH11	ENSG00000140937.14	transcript	ENST00000268603.9	protein_coding	8/12						chr16	TogoVar
CDH20_chr18_61328430_61560779	61496056	CTCTCTCC others(40): Show CTCTCTCCTCCCTTCCTCTCCCCCCTCTCTCCTCCCTTCCTCTCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01346.hp1 NA19064.hp2 others(2): Show HG01099.hp2 HG01346.hp1 NA19064.hp2 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0219 others(2): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0002g0219 a0001c0001t0002g0272 a0001c0001t0003g0129	5	280	0.0179	-47	c.247 others(64): Show c.247-3106_247-3060delCTCTCTCCTCCCTTCCTCTCTCCTTCTC TCCTCCCTTCCTCTCCCCC		CDH20	ENSG00000101542.10	transcript	ENST00000262717.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH23_chr10_71391920_71820947	71704002	CCTAGGAC others(40): Show CCTAGGACCTCAGGAGATACAGATTTCTGCTGGTTGTGGAGAAGAGCG	C C	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0005 a0004c0025t0005	a0004c0025t0005g0123 a0004c0025t0005g0123	1	196	0.0051	-47	c.273 others(64): Show c.2734-908_2734-862delCTAGGACCTCAGGAGATACAGATTTCTG CTGGTTGTGGAGAAGAGCG		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	24/69						chr10	TogoVar
CDH4_chr20_61247261_61945617	61944636	CTGCGACC others(40): Show CTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0091 a0001c0001t0019g0091	1	106	0.0094	-47	c.76 others(58): Show c.7694_*7740delTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCAC TGACGATGAGCAT		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4020		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944646	CTGCACCG others(40): Show CTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGCATTGCGACTGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG03130.hp2 HG02055.hp2 HG02647.hp1 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0016 a0002c0002 a0002c0004 a0002c0016	a0002c0002t0013 a0002c0004t0013 a0002c0016t0004 a0002c0002t0013 a0002c0004t0013 a0002c0016t0004	a0002c0002t0013g0017 a0002c0004t0013g0021 a0002c0016t0004g0042 a0002c0002t0013g0017 a0002c0004t0013g0021 a0002c0016t0004g0042	3	106	0.0283	-47	c.77 others(58): Show c.7704_*7750delTGCACCGTGGCCGCCCCTTCTCACTGACGATGAG CATTGCGACTGTA		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4030		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945570	ATGATGAG others(40): Show ATGATGAGGAACATTGAGACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA19240.hp2 HG03927.hp1 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0005 a0004c0019 a0002c0005 a0004c0019	a0002c0005t0002 a0004c0019t0001 a0002c0005t0002 a0004c0019t0001	a0002c0005t0002g0061 a0004c0019t0001g0015 a0002c0005t0002g0061 a0004c0019t0001g0015	2	106	0.0189	-47	c.86 others(58): Show c.8628_*8674delTGATGAGGAACATTGAGACTGTCTGCCCCGTGGC TGCCCCTTCTCAC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4954		chr20	TogoVar
CDK12_chr17_39456486_39539544	39481669	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0107 a0001c0001t0010g0106 a0001c0001t0010g0107	2	260	0.0077	-47	c.193 others(66): Show c.1932-8887_1932-8841delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTTTCTC		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13						chr17	TogoVar
CDK14_chr7_90591321_91215590	91179065	CAACAATG others(40): Show CAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGG	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	168	0.0060	-47	c.29 others(66): Show c.29-28050_*29-28004delCAATGATAGACTGGATTAAGAAAATG TGGCACATATACACCATGGAA		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CEACAM20_chr19_44501159_44534675	44532525	GGAAAGAA others(40): Show GGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAGAAAGAAAGAAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18939.hp1 NA18939.hp2 others(7): Show NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18959.hp2 NA18966.hp1 NA18975.hp2 NA19005.hp1 NA19054.hp1 NA19078.hp1 NA19091.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0003 a0003c0004 a0004c0003	a0003c0004t0001 a0004c0003t0001 a0003c0004t0001 a0004c0003t0001	a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0223 others(7): Show a0003c0004t0001g0005 a0003c0004t0001g0006 a0003c0004t0001g0223 a0004c0003t0001g0317 a0004c0003t0001g0319 a0004c0003t0001g0322 a0004c0003t0001g0325 a0004c0003t0001g0328 a0004c0003t0001g0329 a0004c0003t0001g0353	10	438	0.0228	-47	c.-30 others(58): Show c.-3063_-3017delTTTCTTTTCTTTCTTTCTTCCTTTCTTTCCTTTC TTTCCTTTCTTTC		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding					2851		chr19	TogoVar
CECR2_chr22_17364460_17563151	17419523	GAAGAAGA others(40): Show GAAGAAGAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0039 a0002c0002t0055g0039	1	324	0.0031	-47	c.126 others(66): Show c.126+49622_126+49668delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAGAAAAGAAGA		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPF_chr1_214598195_214669571	214616892	TCTTTCTT others(40): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCCACCCTC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0221 a0004c0004t0002g0221	1	282	0.0036	-47	c.360 others(64): Show c.360-1679_360-1633delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCTTTCTTTCCACCCTCC		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CER1_chr9_14714724_14727733	14720210	GGAGGAAA others(40): Show GGAGGAAAGTTCAGTGCAGTTCAGTGGCAAGTGCATCGTGGTGAACTT	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp2 NA19075.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0027 a0006c0010t0003g0027	1	460	0.0022	-47	c.637 others(54): Show c.637_683delAAGTTCACCACGATGCACTTGCCACTGAACTGCACTGA ACTTTCCTC	p.Lys others(5): Show p.Lys213fs	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding	2/2	744/1231	637/804	213/267			chr9	TogoVar
CFAP20DC_chr3_58737008_59055025	58873250	TCTGGATG others(40): Show TCTGGATGCTGTAAGGCAAGTGCTCAAGCAGAAGTCTGGATAGCTGTG	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	204	0.0049	-47	c.716 others(64): Show c.716-2988_716-2942delCACAGCTATCCAGACTTCTGCTTGAGCA CTTGCCTTACAGCATCCAG		CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	7/16						chr3	TogoVar
CFAP47_chrX_35914734_36390317	36261935	CGGCTGGC others(40): Show CGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01109.hp1 others(8): Show HG00408.hp1 HG00621.hp1 HG01109.hp1 HG01168.hp1 HG01257.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG03669.hp1 NA18967.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0002c0067 a0003c0004 others(1): Show a0002c0002 a0002c0067 a0003c0004 a0008c0009	a0002c0002t0001 a0002c0067t0001 a0003c0004t0001 others(1): Show a0002c0002t0001 a0002c0067t0001 a0003c0004t0001 a0008c0009t0001	a0002c0002t0001g0154 a0002c0002t0001g0160 a0002c0002t0001g0163 others(8): Show a0002c0002t0001g0154 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0067t0001g0161 a0003c0004t0001g0041 a0003c0004t0001g0044 a0008c0009t0001g0144 a0008c0009t0001g0148 a0008c0009t0001g0159 a0008c0009t0001g0164 a0008c0009t0001g0165	11	216	0.0509	-47	c.744 others(68): Show c.7444+10525_7444+10571delCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGCTGACCCCCCACCTCC		CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	49/63					INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP77_chr9_132405211_132578319	132486043	TATGTATA others(40): Show TATGTATATGTATGTGTGTGTGTGTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0261 a0004c0009t0001g0261	1	322	0.0031	-47	c.196 others(66): Show c.196-12651_196-12605delATGTATATGTATGTGTGTGTGTGTAT ATATATATATATATATATATA		CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5						chr9	TogoVar
CFAP92_chr3_128904873_128999076	128954917	GGGGTGTC others(40): Show GGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03710.hp1 HG02895.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0286 a0001c0001t0001g0237 a0001c0001t0001g0286	2	342	0.0059	-47	c.135 others(66): Show c.1354-8989_1354-8943delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCC		CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15						chr3	TogoVar
CFI_chr4_109735695_109806999	109753576	ATATTTAT others(40): Show ATATTTATTATATAAATAAATATTTATAATATATATTTATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	354	0.0028	-47	c.905 others(64): Show c.905-1120_905-1074delAATATATAATAAATATATATTATAAATA TTTATTTATATAATAAATA		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CHAF1B_chr21_36380392_36424015	36401550	TTTTTATA others(40): Show TTTTTATATTATACATAATATATATTTTTATATTATACATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01256.hp1 HG01358.hp1 others(4): Show HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01978.hp2 HG03139.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0034 a0001c0001t0009g0037 a0001c0001t0009g0038 others(4): Show a0001c0001t0009g0034 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0011g0015 a0001c0001t0011g0017 a0001c0001t0011g0020 a0001c0001t0011g0021	7	346	0.0202	-47	c.664 others(64): Show c.664-1171_664-1125delCATAATATATATTTTATATTATACATAA TATATATTTTTATATTATA		CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr21	TogoVar
CHKB_chr22_50573963_50587849	50585316	CATTTATA others(40): Show CATTTATATGGGAAGGACAGCTCTGTAAATGGTCTTGCTTCTTGCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-47	c.-25 others(58): Show c.-2582_-2536delACAGCAAGAAGCAAGACCATTTACAGAGCTGTCC TTCCCATATAAAT		CHKB	ENSG00000100288.20	transcript	ENST00000406938.3	protein_coding					2468		chr22	TogoVar
CHRNA4_chr20_63338223_63366349	63357155	GTCTCCAC others(40): Show GTCTCCACAGGACCACATTCCCACAGGACCACAACCCACAGGACCACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(98): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18945.hp1 NA18945.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0006 a0001c0001 a0001c0002 others(6): Show a0000c0006 a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0016 a0002c0012	a0000c0006t0003 a0000c0006t0004 a0000c0006t0028 others(27): Show a0000c0006t0003 a0000c0006t0004 a0000c0006t0028 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0004 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0005t0001 a0001c0005t0004 a0001c0005t0031 a0001c0007t0008 a0001c0008t0001 a0001c0009t0008 a0001c0016t0001 a0002c0012t0003	a0000c0006t0003g0109 a0000c0006t0004g0095 a0000c0006t0028g0079 others(86): Show a0000c0006t0003g0109 a0000c0006t0004g0095 a0000c0006t0028g0079 a0001c0001t0001g0066 a0001c0001t0003g0006 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0132 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0004g0005 a0001c0001t0004g0011 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0009g0044 a0001c0001t0009g0045 a0001c0001t0009g0082 a0001c0001t0017g0015 a0001c0001t0019g0031 a0001c0001t0020g0092 a0001c0001t0027g0086 a0001c0001t0029g0124 a0001c0001t0030g0114 a0001c0001t0032g0116 a0001c0001t0033g0112 a0001c0001t0034g0131 a0001c0001t0035g0117 a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0081 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0004g0049 a0001c0002t0024g0102 a0001c0002t0025g0096 a0001c0002t0026g0067 a0001c0005t0001g0064 a0001c0005t0001g0065 a0001c0005t0001g0072 a0001c0005t0004g0055 a0001c0005t0004g0059 a0001c0005t0031g0138 a0001c0007t0008g0035 a0001c0007t0008g0037 a0001c0008t0001g0009 a0001c0008t0001g0038 a0001c0009t0008g0036 a0001c0016t0001g0040 a0002c0012t0003g0119	101	168	0.6012	-47	c.229 others(62): Show c.229-787_229-741delTGTGGTCCTGTGGGTTGTGGTCCTGTGGGA ATGTGGTCCTGTGGAGA		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	2/5						chr20	TogoVar
CHST8_chr19_33616953_33778506	33757482	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03453.hp2 HG03704.hp2 HG01496.hp1 HG03453.hp2 HG03704.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0005 a0001c0001 a0001c0003 a0004c0005	a0001c0001t0001 a0001c0003t0003 a0004c0005t0004 a0001c0001t0001 a0001c0003t0003 a0004c0005t0004	a0001c0001t0001g0252 a0001c0003t0003g0124 a0004c0005t0004g0008 a0001c0001t0001g0252 a0001c0003t0003g0124 a0004c0005t0004g0008	3	254	0.0118	-47	c.131 others(66): Show c.131-13928_131-13882delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST9_chr18_26901481_27190308	27051269	AGCCAGGC others(40): Show AGCCAGGCATGGTGGCACACATCTGTCACCTCCCTAATTAGTTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	262	0.0038	-47	c.122 others(64): Show c.122-2813_122-2767delCTCCCAACTAATTAGGGAGGTGACAGAT GTGTGCCACCATGCCTGGC		CHST9	ENSG00000154080.14	transcript	ENST00000618847.5	protein_coding	2/5						chr18	TogoVar
CIR1_chr2_174343022_174400712	174354561	TTTATATA others(40): Show TTTATATATTATATTATATATTATATATATCATATAATATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(186): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19078.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0001 a0003c0004 a0004c0003 others(2): Show a0001c0001 a0003c0004 a0004c0003 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0003c0004t0001 a0004c0003t0001 a0006c0006t0001 a0007c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(176): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0007g0147 a0001c0001t0007g0169 a0001c0001t0008g0022 a0001c0001t0009g0291 a0003c0004t0001g0299 a0003c0004t0001g0301 a0004c0003t0001g0011 a0006c0006t0001g0311 a0007c0007t0001g0122	189	348	0.5431	-47	c.485 others(64): Show c.485-2883_485-2837delTATAATATATATTATATGATATATATAA TATATAATATAATATATAA		CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9						chr2	TogoVar
CLASP2_chr3_33491245_33723254	33712984	CCTGGGCG others(40): Show CCTGGGCGACAAGAGCAAAACTCCACCTCAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18990.hp2 HG04204.hp2 NA18990.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0008 a0001c0010	a0001c0008t0001 a0001c0010t0001 a0001c0008t0001 a0001c0010t0001	a0001c0008t0001g0002 a0001c0010t0001g0003 a0001c0008t0001g0002 a0001c0010t0001g0003	2	278	0.0072	-47	c.195 others(64): Show c.195+4777_195+4823delTTTTTTTTTTTTTTTTTTTGAGGTGGAG TTTTGCTCTTGTCGCCCAG		CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38						chr3	TogoVar
CLCN4_chrX_10151975_10242660	10239519	TTTTTTTT others(40): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	264	0.0038	-47	c.59 others(58): Show c.5936_*5982delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGATGGAGTCTCA		CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding					1860		chrX	TogoVar
CLDN4_chr7_73825996_73837690	73836217	GGGAGGGA others(40): Show GGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCCGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	372	0.0027	-47	c.43 others(58): Show c.4387_*4433delGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGC CAGCCGCCCCGTC		CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding					3528		chr7	TogoVar
CLMN_chr14_95176940_95324908	95245178	ATATATAT others(40): Show ATATATATATATATATAATATATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	276	0.0036	-47	c.83- others(64): Show c.83-15092_83-15046delATATATATATATATATAATATATATATA TATTATATATATATATATA		CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12						chr14	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)