Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPZB_chr1_19333775_19490539	19414008	GACTAATA others(28): Show GACTAATAGTATCATCCTTAACGTCACCAGTCAATT	G G	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	364	0.0028	-35	c.93+ others(50): Show c.93+5618_93+5652delAATTGACTGGTGACGTTAAGGATGATACTA TTAGT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD10_chr22_37485362_37524415	37523460	AGGGGAGG others(28): Show AGGGGAGGAGAGGAGGTTGAAGGAGGATTGGAAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	276	0.0036	-35	c.-42 others(46): Show c.-4295_-4261delCCCTTCCAATCCTCCTTCAACCTCCTCTCCTCCC C	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding		4046		chr22	TogoVar
CARNMT1_chr9_74975790_75033293	75021266	ATGTATAT others(28): Show ATGTATATATACATAGTATATACATAGTATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01106.hp1 others(7): Show HG00323.hp1 HG00738.hp1 HG01106.hp1 HG01243.hp1 HG01256.hp1 HG01433.hp2 HG02698.hp2 HG02735.hp1 HG03239.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018	a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0007g0282 others(7): Show a0001c0001t0007g0280 a0001c0001t0007g0281 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0009g0289 a0001c0001t0018g0288	10	366	0.0273	-35	c.231 others(52): Show c.231-3853_231-3819delGTATATATACTATGTATATACTATGTAT ATATACA	CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	1/7			chr9	TogoVar
CASP6_chr4_109683628_109708445	109705982	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG06807.hp1 HG00738.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0005g0055 a0001c0001t0001g0007 a0001c0001t0005g0055	2	416	0.0048	-35	c.-26 others(46): Show c.-2622_-2588delATATATATATATATATTTTTTTTTTTTTTTTTTT T	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2538		chr4	TogoVar
CATSPERE_chr1_244456273_244645504	244639265	ACTCTTAG others(28): Show ACTCTTAGGCATTTTTATCTAGCTAACTCCTACTCC	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	206	0.0049	-35	c.270 others(52): Show c.2703-661_2703-627delTCTTAGGCATTTTTATCTAGCTAACTCC TACTCCC	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116555503	AGAAAGAA others(28): Show AGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18995.hp2 NA20752.hp1 NA18941.hp2 NA18995.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0197 a0001c0001t0002g0253 a0001c0001t0002g0189 a0001c0001t0002g0197 a0001c0001t0002g0253	3	342	0.0088	-35	c.196 others(52): Show c.196-3442_196-3408delGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAGAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2			chr7	TogoVar
CAV1_chr7_116520036_116566179	116555507	AGAAAGAA others(28): Show AGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00735.hp1 others(9): Show HG00280.hp2 HG00438.hp1 HG00735.hp1 HG01256.hp1 HG01516.hp2 HG01981.hp1 HG02109.hp2 HG03471.hp2 HG03927.hp1 NA18946.hp1 NA18957.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0001t0001g0146 others(9): Show a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0002g0072 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0264	12	342	0.0351	-35	c.196 others(52): Show c.196-3438_196-3404delGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAGAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2			chr7	TogoVar
CAV1_chr7_116520036_116566179	116555509	AAAGAAAG others(28): Show AAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp2 HG03492.hp2 others(3): Show HG00609.hp2 HG01192.hp2 HG03492.hp2 HG04228.hp1 NA19055.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0085 a0001c0001t0001g0117 a0001c0001t0001g0249 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0117 a0001c0001t0001g0249 a0001c0001t0002g0082 a0001c0001t0002g0212 a0001c0001t0002g0243	6	342	0.0175	-35	c.196 others(52): Show c.196-3434_196-3400delGAAAGAAAGAGAGAGAGAGAGAGAGAGA GAGAGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555513	AAAGAAAG others(28): Show AAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03710.hp1 NA18994.hp1 HG01175.hp1 HG03710.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0130 a0001c0001t0002g0207 a0001c0001t0002g0225 a0001c0001t0001g0130 a0001c0001t0002g0207 a0001c0001t0002g0225	3	342	0.0088	-35	c.196 others(52): Show c.196-3430_196-3396delGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555517	AAAGAGAG others(28): Show AAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	342	0.0029	-35	c.196 others(52): Show c.196-3426_196-3392delGAGAGAGAGAGAGAGAGAGAGAGAGAAA GAAAGAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAVIN4_chr9_100573079_100593389	100575492	AATGGAGA others(28): Show AATGGAGATGATTCCAACTCTGTCTACCTCACACTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-35	c.-26 others(46): Show c.-2651_-2617delATGGAGATGATTCCAACTCTGTCTACCTCACACT T	CAVIN4	ENSG00000170681.7	transcript	ENST00000307584.6	protein_coding		2586		chr9	TogoVar
CBLC_chr19_44772890_44805652	44785486	AAGAGAGG others(28): Show AAGAGAGGAGATAGGAAGGTAGGTAGCTAGCTAGAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0110 a0002c0003t0001g0110	1	344	0.0029	-35	c.917 others(52): Show c.917+1088_917+1122delAGAGGAGATAGGAAGGTAGGTAGCTAGC TAGATAG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBX7_chr22_39125772_39157680	39142929	CAAAAACA others(28): Show CAAAAACAAAGCTTTAAGGCCAGTGTCTTAGGTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01257.hp2 others(12): Show HG01070.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01934.hp1 HG02523.hp2 HG03130.hp2 HG03704.hp1 HG03942.hp1 NA18963.hp2 NA18977.hp1 NA18982.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0002t0008 a0001c0001t0003 a0001c0001t0008 a0001c0002t0008	a0001c0001t0003g0014 a0001c0001t0003g0027 a0001c0001t0003g0090 others(7): Show a0001c0001t0003g0014 a0001c0001t0003g0027 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0008g0028 a0001c0001t0008g0089 a0001c0001t0008g0092 a0001c0002t0008g0094 a0001c0002t0008g0095	15	380	0.0395	-35	c.114 others(52): Show c.114-1528_114-1494delAAAACCTAAGACACTGGCCTTAAAGCTT TGTTTTT	CBX7	ENSG00000100307.13	transcript	ENST00000216133.10	protein_coding	2/5			chr22	TogoVar
CCAR2_chr8_22599757_22625471	22624395	TTCTTGAA others(28): Show TTCTTGAAGGGGTGGCCTGGCTGGAGATGGGTCTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	376	0.0027	-35	c.47 others(46): Show c.4714_*4748delTCTTGAAGGGGTGGCCTGGCTGGAGATGGGTCTG C	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding		3925		chr8	TogoVar
CCBE1_chr18_59425939_59702423	59658339	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0010	1	242	0.0041	-35	c.212 others(54): Show c.212+38255_212+38289delATATATATATATATATATATTTTTTT TTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658345	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0238 a0001c0001t0042g0238	1	242	0.0041	-35	c.212 others(54): Show c.212+38249_212+38283delATATATATATATATATATATATATAT TTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658355	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG02922.hp2 HG00280.hp1 HG00738.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0052 a0001c0001t0002 a0001c0001t0003 a0001c0001t0052	a0001c0001t0002g0037 a0001c0001t0003g0036 a0001c0001t0052g0201 a0001c0001t0002g0037 a0001c0001t0003g0036 a0001c0001t0052g0201	3	242	0.0124	-35	c.212 others(54): Show c.212+38239_212+38273delATATATATATATATATATATATATAT ATATATATA	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC102A_chr16_57507181_57541571	57534126	ACCAACTC others(28): Show ACCAACTCCAGGAAATGCCTTGATCTCCCCAACCCC	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0303 a0001c0001t0003g0303	1	416	0.0024	-35	c.-14 others(54): Show c.-148+2339_-148+2373delGGGGTTGGGGAGATCAAGGCATTTCC TGGAGTTGG	CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	1/8			chr16	TogoVar
CCDC124_chr19_17928015_17948985	17930327	TTACAGGC others(28): Show TTACAGGCGTGAGCCACCGCGCCCGGCCTTTAATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(119): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0003c0007t0002 a0004c0008t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0021 others(45): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0054 a0001c0001t0001g0162 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0196 a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0053 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0002t0001g0012 a0001c0002t0001g0017 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0160 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0186 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0002g0001 a0001c0002t0002g0032 a0001c0003t0001g0161 a0001c0003t0001g0184 a0003c0007t0002g0001 a0004c0008t0001g0052 a0004c0008t0001g0167	122	420	0.2905	-35	c.-27 others(46): Show c.-2732_-2698delTACAGGCGTGAGCCACCGCGCCCGGCCTTTAATA A	CCDC124	ENSG00000007080.11	transcript	ENST00000445755.7	protein_coding		2687		chr19	TogoVar
CCDC141_chr2_178824757_179055137	179015083	TATATATA others(28): Show TATATATATATATATATATATAATATATATATAATC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03491.hp1 HG02257.hp2 HG03491.hp1	a0001 a0001	a0001c0007 a0001c0040 a0001c0007 a0001c0040	a0001c0007t0003 a0001c0040t0034 a0001c0007t0003 a0001c0040t0034	a0001c0007t0003g0223 a0001c0040t0034g0134 a0001c0007t0003g0223 a0001c0040t0034g0134	2	274	0.0073	-35	c.225 others(54): Show c.225+32166_225+32200delGATTATATATATATTATATATATATA TATATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC158_chr4_76308039_76426141	76319446	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	348	0.0029	-35	c.327 others(54): Show c.3277+3821_3277+3855delATATATATATATATATTTTTTTTTTT TTTTTTTTT	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24			chr4	TogoVar
CCDC158_chr4_76308039_76426141	76319450	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG06807.hp1 HG02809.hp1 HG06807.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0325 a0003c0008t0005g0326 a0003c0008t0005g0325 a0003c0008t0005g0326	2	348	0.0058	-35	c.327 others(54): Show c.3277+3817_3277+3851delATATATATATATATATATATTTTTTT TTTTTTTTT	CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24			chr4	TogoVar
CCDC169_chr13_36225775_36302814	36259680	TCACGACC others(28): Show TCACGACCAATCAGAGGCTGAAGTGAAGACTTGGCC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18970.hp2 NA18983.hp1 NA18948.hp2 NA18970.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0098	3	364	0.0082	-35	c.316 others(52): Show c.316-5572_316-5538delGGCCAAGTCTTCACTTCAGCCTCTGATT GGTCGTG	CCDC169	ENSG00000242715.8	transcript	ENST00000239859.8	protein_coding	4/7			chr13	TogoVar
CCDC171_chr9_15548043_15979037	15677890	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp2 NA19009.hp2 HG01361.hp2 HG01993.hp2 NA19009.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0013 a0004c0004t0003 a0004c0004t0013	a0004c0004t0003g0005 a0004c0004t0003g0006 a0004c0004t0013g0008 a0004c0004t0003g0005 a0004c0004t0003g0006 a0004c0004t0013g0008	3	266	0.0113	-35	c.107 others(52): Show c.1077-867_1077-833delTATATATATATATATATATATATATATA TATATAT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	9/25			chr9	TogoVar
CCDC177_chr14_69564799_69579871	69578507	CTATGTAG others(28): Show CTATGTAGATGTTAACTTTATCCTTCAGTTTTCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	338	0.0030	-35	c.-40 others(46): Show c.-4029_-3995delTGTGAAAACTGAAGGATAAAGTTAACATCTACAT A	CCDC177	ENSG00000267909.3	transcript	ENST00000599174.3	protein_coding		3637		chr14	TogoVar
CCDC178_chr18_32932406_33445721	33377322	CCTTAGAG others(28): Show CCTTAGAGATTTGGGATATTAGGCTTTTGTCAGATG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01243.hp1 others(35): Show HG00738.hp1 HG00738.hp2 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02630.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03710.hp2 NA18946.hp1 NA18946.hp2 NA18960.hp1 NA18960.hp2 NA18988.hp1 NA18988.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0011 a0010c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001 a0005c0005t0003 a0006c0011t0001 a0010c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 others(35): Show a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0042 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0033 a0002c0002t0001g0050 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0003c0003t0001g0018 a0003c0003t0001g0022 a0003c0003t0001g0028 a0003c0003t0001g0058 a0004c0004t0001g0005 a0005c0005t0003g0007 a0006c0011t0001g0054 a0010c0007t0001g0025	38	58	0.6552	-35	c.209 others(52): Show c.209-7168_209-7134delCATCTGACAAAAGCCTAATATCCCAAAT CTCTAAG	CCDC178	ENSG00000166960.17	transcript	ENST00000383096.8	protein_coding	5/22			chr18	TogoVar
CCDC187_chr9_136244973_136309094	136307610	CAGATCAC others(28): Show CAGATCACACAACACACACAGACCAACACACAGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0009 a0016c0013t0009	a0016c0013t0009g0230 a0016c0013t0009g0230	1	400	0.0025	-35	c.-38 others(46): Show c.-3815_-3781delTTTCTGTGTGTTGGTCTGTGTGTGTTGTGTGATC T	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding		3517		chr9	TogoVar
CCDC18_chr1_93175724_93283730	93272506	AGAGTATA others(28): Show AGAGTATAATATTTCACAATGTATTTCAAGGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01257.hp2 others(4): Show HG01074.hp1 HG01106.hp1 HG01257.hp2 HG01261.hp1 HG02293.hp2 NA18943.hp1 NA19011.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0004 a0002c0001t0001 a0002c0001t0004	a0002c0001t0001g0251 a0002c0001t0001g0263 a0002c0001t0004g0252 others(4): Show a0002c0001t0001g0251 a0002c0001t0001g0263 a0002c0001t0004g0252 a0002c0001t0004g0253 a0002c0001t0004g0254 a0002c0001t0004g0255 a0002c0001t0004g0256	7	316	0.0222	-35	c.435 others(54): Show c.4353+1696_4353+1730delTATAATATTTCACAATGTATTTCAAG GAGGGTGAG	CCDC18	ENSG00000122483.18	transcript	ENST00000690025.1	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC30_chr1_42458286_42662190	42546394	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0038 a0003c0015t0038	a0003c0015t0038g0305 a0003c0015t0038g0305	1	324	0.0031	-35	c.890 others(50): Show c.890+817_890+851delAAAAATATATATATATATATATATATATAT ATATA	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC47_chr17_63740255_63778597	63759509	ATATATAT others(28): Show ATATATATATATATATATTTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA21309.hp1 HG03710.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0136 a0001c0001t0003g0213 a0001c0001t0001g0136 a0001c0001t0003g0213	2	352	0.0057	-35	c.735 others(52): Show c.735+1370_735+1404delATATATATATATATATAAATATATATAT ATATATA	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	6/12			chr17	TogoVar
CCDC60_chr12_119329729_119546040	119396474	GATGCAGC others(28): Show GATGCAGCAGTGGAACAGGGACCCACTATCACAACA	G G	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	256	0.0039	-35	c.91- others(52): Show c.91-32207_91-32173delTGCAGCAGTGGAACAGGGACCCACTATC ACAACAA	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC60_chr12_119329729_119546040	119507571	TATATATA others(28): Show TATATATACACATATATATACATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0162 a0006c0006t0004g0163 a0006c0006t0004g0162 a0006c0006t0004g0163	2	256	0.0078	-35	c.883 others(52): Show c.883+2269_883+2303delATATATACACATATATATACATATATAT ATATATA	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	7/13			chr12	TogoVar
CCDC60_chr12_119329729_119546040	119507575	TATACACA others(28): Show TATACACATATATATACATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01943.hp2 HG02015.hp2 others(2): Show HG00099.hp2 HG01943.hp2 HG02015.hp2 NA19004.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0169 a0001c0001t0001g0212 a0001c0001t0002g0120	5	256	0.0195	-35	c.883 others(52): Show c.883+2273_883+2307delATACACATATATATACATATATATATAT ATATATA	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	7/13			chr12	TogoVar
CCDC60_chr12_119329729_119546040	119507577	TACACATA others(28): Show TACACATATATATACATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18612.hp1 NA18979.hp2 others(3): Show HG00408.hp2 NA18612.hp1 NA18979.hp2 NA19058.hp2 NA19064.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0003 a0001c0001t0001 a0001c0001t0002 a0003c0003t0003	a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0002g0101 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0002g0101 a0001c0001t0002g0119 a0001c0001t0002g0124 a0003c0003t0003g0056	6	256	0.0234	-35	c.883 others(52): Show c.883+2275_883+2309delACACATATATATACATATATATATATAT ATATATA	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	7/13			chr12	TogoVar
CCDC70_chr13_51856969_51871232	51868469	TCACCTGA others(28): Show TCACCTGACCTTCAGCATTGTTTCACAGATAGAGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	430	0.0023	-35	c.23 others(46): Show c.2390_*2424delCACCTGACCTTCAGCATTGTTTCACAGATAGAGT G	CCDC70	ENSG00000123171.8	transcript	ENST00000242819.7	protein_coding		2238		chr13	TogoVar
CCL17_chr16_57399767_57421063	57403445	TATTATAT others(28): Show TATTATATTATAATATATATTATATTATATATATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02886.hp2 HG03579.hp2 others(1): Show HG02257.hp2 HG02886.hp2 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0049 a0001c0003t0001g0022 a0001c0003t0001g0049	4	388	0.0103	-35	c.-14 others(46): Show c.-1450_-1416delATTATATTATAATATATATTATATTATATATATT A	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1321		chr16	TogoVar
CCN1_chr1_85575761_85588950	85580564	CACACACA others(28): Show CACACACACACACACACACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	-35	c.-42 others(44): Show c.-420_-386delACACACACACACACACACACACACACACACACACA	CCN1	ENSG00000142871.18	transcript	ENST00000451137.7	protein_coding		196		chr1	TogoVar
CCNT1_chr12_48683458_48721707	48698824	CGCATGCC others(28): Show CGCATGCCTGTAATCCCAGCTACTCGGAAGACTGAG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18939.hp1 NA18945.hp1 others(15): Show HG02155.hp2 NA18939.hp1 NA18945.hp1 NA18951.hp2 NA18955.hp2 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18982.hp1 NA18983.hp2 NA19004.hp2 NA19009.hp2 NA19012.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0163 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245	18	386	0.0466	-35	c.497 others(50): Show c.497-676_497-642delCTCAGTCTTCCGAGTAGCTGGGATTACAGG CATGC	CCNT1	ENSG00000129315.12	transcript	ENST00000261900.8	protein_coding	5/8			chr12	TogoVar
CCSER2_chr10_84323589_84523517	84457604	TATTATAT others(28): Show TATTATATATAATTATATATTTATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(76): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01167.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02965.hp2 HG03017.hp1 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19006.hp1 NA19010.hp1 NA19055.hp2 NA19056.hp1 NA19065.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0012 others(3): Show a0001 a0002 a0012 a0013 a0014 a0015	a0001c0010 a0002c0002 a0002c0003 others(4): Show a0001c0010 a0002c0002 a0002c0003 a0012c0019 a0013c0018 a0014c0017 a0015c0016	a0001c0010t0003 a0002c0002t0003 a0002c0002t0010 others(7): Show a0001c0010t0003 a0002c0002t0003 a0002c0002t0010 a0002c0002t0016 a0002c0002t0017 a0002c0003t0006 a0012c0019t0010 a0013c0018t0003 a0014c0017t0003 a0015c0016t0003	a0001c0010t0003g0226 a0002c0002t0003g0102 a0002c0002t0003g0103 others(76): Show a0001c0010t0003g0226 a0002c0002t0003g0102 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0111 a0002c0002t0003g0112 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0136 a0002c0002t0003g0349 a0002c0002t0003g0352 a0002c0002t0003g0353 a0002c0002t0003g0354 a0002c0002t0003g0355 a0002c0002t0003g0356 a0002c0002t0003g0357 a0002c0002t0003g0358 a0002c0002t0003g0359 a0002c0002t0003g0360 a0002c0002t0003g0361 a0002c0002t0003g0362 a0002c0002t0003g0363 a0002c0002t0003g0364 a0002c0002t0003g0365 a0002c0002t0003g0366 a0002c0002t0003g0367 a0002c0002t0003g0368 a0002c0002t0003g0369 a0002c0002t0010g0138 a0002c0002t0010g0139 a0002c0002t0010g0141 a0002c0002t0010g0142 a0002c0002t0010g0144 a0002c0002t0016g0108 a0002c0002t0017g0105 a0002c0003t0006g0012 a0002c0003t0006g0013 a0002c0003t0006g0014 a0002c0003t0006g0015 a0002c0003t0006g0016 a0002c0003t0006g0017 a0002c0003t0006g0018 a0002c0003t0006g0019 a0002c0003t0006g0020 a0002c0003t0006g0021 a0002c0003t0006g0022 a0002c0003t0006g0023 a0002c0003t0006g0024 a0002c0003t0006g0025 a0002c0003t0006g0026 a0002c0003t0006g0027 a0012c0019t0010g0140 a0013c0018t0003g0135 a0014c0017t0003g0137 a0015c0016t0003g0101	79	370	0.2135	-35	c.206 others(54): Show c.2065-6311_2065-6277delATTTATATATTATATATAATTATATA TAATTATAT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCZ1_chr7_5893733_5931550	5927035	GTGTGTGT others(28): Show GTGTGTGTGTGTATTATGTGTGTGTGTGTGTGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG03098.hp1 HG02109.hp2 HG02622.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0011 a0001c0007t0012 a0002c0002t0011 a0001c0007t0011 a0001c0007t0012 a0002c0002t0011	a0001c0007t0011g0012 a0001c0007t0012g0028 a0002c0002t0011g0027 a0001c0007t0011g0012 a0001c0007t0012g0028 a0002c0002t0011g0027	3	114	0.0263	-35	c.13 others(46): Show c.1349_*1383delTGTGTGTGTGTATTATGTGTGTGTGTGTGTGTAT A	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		486		chr7	TogoVar
CD200_chr3_112328156_112367812	112342303	TTCCTTTC others(28): Show TTCCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0007	a0003c0006t0007g0139 a0003c0006t0007g0139	1	408	0.0025	-35	c.94+ others(50): Show c.94+1322_94+1356delCCTTTCTTCTTTCTTTCTTTCTTTCTTTCT TTCCT	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD200_chr3_112328156_112367812	112342313	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(16): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp2 HG00673.hp2 HG01952.hp2 HG02083.hp2 HG02109.hp2 HG02258.hp2 HG03195.hp2 HG03704.hp2 HG03942.hp1 HG03942.hp2 NA18941.hp2 NA18975.hp2 NA18993.hp1 NA19065.hp1 NA19077.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0021 a0002c0003t0001	a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0201 others(15): Show a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0187 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0129 a0001c0002t0021g0101 a0002c0003t0001g0328	19	408	0.0466	-35	c.94+ others(50): Show c.94+1331_94+1365delTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCTTT	CD200	ENSG00000091972.18	transcript	ENST00000315711.12	protein_coding	2/5			chr3	TogoVar
CD276_chr15_73679383_73719514	73718235	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	384	0.0026	-35	c.52 others(46): Show c.5280_*5314delATATATATATATATATATATATATATATATATAT A	CD276	ENSG00000103855.18	transcript	ENST00000318443.10	protein_coding		3722		chr15	TogoVar
CD2_chr1_116749430_116774229	116758931	TGGCAAGG others(28): Show TGGCAAGGATGATGACCTTTTCTTTTTTTTCTAAAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0097 a0003c0004t0001g0097	1	456	0.0022	-35	c.383 others(52): Show c.383-1470_383-1436delGGCAAGGATGATGACCTTTTCTTTTTTT TCTAAAC	CD2	ENSG00000116824.5	transcript	ENST00000369478.4	protein_coding	2/4			chr1	TogoVar
CD47_chr3_108038091_108096031	108052909	AGCGAGCT others(28): Show AGCGAGCTGGGGTCGTGCCACTGCACTCCAGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0272 a0001c0001t0033g0272	1	386	0.0026	-35	c.878 others(50): Show c.878-974_878-940delCCAGGCTGGAGTGCAGTGGCACGACCCCAG CTCGC	CD47	ENSG00000196776.17	transcript	ENST00000361309.6	protein_coding	7/10			chr3	TogoVar
CDC40_chr6_110175427_110237232	110202800	GCTATAGT others(28): Show GCTATAGTATATTAGGCAGCCTAAAATAAAGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp2 HG03471.hp1 HG02451.hp1 HG02647.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0044 a0002c0002t0001g0043 a0002c0002t0001g0045 a0001c0001t0001g0044 a0002c0002t0001g0043 a0002c0002t0001g0045	3	330	0.0091	-35	c.406 others(52): Show c.406+1143_406+1177delGGCAGCCTATAGTATATTAGGCAGCCTA AAATAAA	CDC40	ENSG00000168438.15	transcript	ENST00000307731.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC42_chr1_22047709_22106360	22054905	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0299 a0001c0001t0031g0299	1	352	0.0028	-35	c.-51 others(52): Show c.-51+2165_-51+2199delATATATATATATATATTTTTTTTTTTTT TTTTTTT	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054909	ATATATAT others(28): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0282 a0001c0001t0089g0282	1	352	0.0028	-35	c.-51 others(52): Show c.-51+2169_-51+2203delATATATATATATTTTTTTTTTTTTTTTT TTTTTTT	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054917	ATATATTT others(28): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp2 HG03471.hp1 HG02055.hp1 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0048 a0001c0001t0134 a0001c0001t0047 a0001c0001t0048 a0001c0001t0134	a0001c0001t0047g0167 a0001c0001t0048g0104 a0001c0001t0134g0006 a0001c0001t0047g0167 a0001c0001t0048g0104 a0001c0001t0134g0006	3	352	0.0085	-35	c.-51 others(52): Show c.-51+2177_-51+2211delATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CDC42_chr1_22047709_22106360	22054919	ATATTTTT others(28): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0156 a0001c0001t0156	a0001c0001t0156g0153 a0001c0001t0156g0153	1	352	0.0028	-35	c.-51 others(52): Show c.-51+2179_-51+2213delATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CDC42	ENSG00000070831.18	transcript	ENST00000656825.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 2085 hits)