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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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
CRB3_chr19_6459271_6472221	6461233	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02129.hp1 HG02523.hp1 others(2): Show HG01361.hp1 HG02129.hp1 HG02523.hp1 HG03927.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	390	0.0128	-19	c.-32 others(30): Show c.-3211_-3193delTTTTTTTTTTTTTTTTTTT	CRB3	ENSG00000130545.16	transcript	ENST00000600229.6	protein_coding		3037		chr19	TogoVar
CREBBP_chr16_3720054_3885713	3849419	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	286	0.0035	-19	c.798 others(34): Show c.798+859_798+877delACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849425	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	286	0.0035	-19	c.798 others(34): Show c.798+853_798+871delACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849427	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02083.hp1 NA20752.hp2 HG01928.hp1 HG02083.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0023g0073 a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0023g0073	3	286	0.0105	-19	c.798 others(34): Show c.798+851_798+869delACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849429	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02135.hp1 NA18942.hp2 others(1): Show HG00423.hp1 HG02135.hp1 NA18942.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0053 a0001c0001t0002g0079 a0001c0001t0002g0147 others(1): Show a0001c0001t0002g0053 a0001c0001t0002g0079 a0001c0001t0002g0147 a0001c0001t0025g0280	4	286	0.0140	-19	c.798 others(34): Show c.798+849_798+867delACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849431	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18980.hp2 NA19060.hp1 others(2): Show HG00621.hp1 NA18980.hp2 NA19060.hp1 NA19068.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0065 a0001c0001t0001g0134 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0134 a0001c0001t0001g0181 a0001c0003t0002g0151 a0001c0003t0002g0152	5	286	0.0175	-19	c.798 others(34): Show c.798+847_798+865delACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849435	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0247 a0001c0001t0046g0247	1	286	0.0035	-19	c.798 others(34): Show c.798+843_798+861delACACACACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREBL2_chr12_12606876_12650108	12617643	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0147 a0001c0001t0032g0147	1	372	0.0027	-19	c.15+ others(34): Show c.15+5476_15+5494delTTTTTTTTTTTTTTTTTTT	CREBL2	ENSG00000111269.3	transcript	ENST00000228865.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
CREBL2_chr12_12606876_12650108	12647188	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	372	0.0027	-19	c.51 others(30): Show c.5191_*5209delAAAAAAAAAAAAAAAAAAC	CREBL2	ENSG00000111269.3	transcript	ENST00000228865.3	protein_coding		2081		chr12	TogoVar
CREBZF_chr11_85652990_85670129	85669001	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0000 a0001c0001t0037g0000	1	392	0.0026	-19	c.-41 others(30): Show c.-4145_-4127delTTTTTTTTTTTTTTTTTTT	CREBZF	ENSG00000137504.15	transcript	ENST00000527447.2	protein_coding		3873		chr11	TogoVar
CREG2_chr2_101340550_101392503	101341296	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0188 a0001c0001t0006g0188	1	388	0.0026	-19	c.96 others(30): Show c.9608_*9626delTTTTTTTTTTTTTTTTTTT	CREG2	ENSG00000175874.10	transcript	ENST00000324768.6	protein_coding		4253		chr2	TogoVar
CRELD2_chr22_49913634_49932537	49917945	TCCGGCCC others(12): Show TCCGGCCCCAGGTGAGGAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02132.hp1 HG00438.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0120 a0001c0001t0001g0121	2	324	0.0062	-19	c.-82 others(28): Show c.-824_-806delCCGGCCCCAGGTGAGGAGC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding		688		chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926712	CCCCCCTC others(12): Show CCCCCCTCTTGCCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0172 a0001c0007t0002g0172	1	324	0.0031	-19	c.101 others(36): Show c.1010-537_1010-519delTCTTGCCCCTCCCTCCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRIP2_chr14_105469821_105485162	105477022	TGCTGAGA others(12): Show TGCTGAGAAAGGGAGCTGGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	316	0.0032	-19	c.44- others(34): Show c.44-1243_44-1225delGCTGAGAAAGGGAGCTGGG	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	1/7			chr14	TogoVar
CRISP2_chr6_49687359_49718543	49702139	CTATATAT others(12): Show CTATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01993.hp2 HG02615.hp2 others(4): Show HG01256.hp2 HG01993.hp2 HG02615.hp2 HG02717.hp1 HG02896.hp1 NA18906.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0118 a0001c0001t0002g0164 a0001c0002t0003g0075	7	410	0.0171	-19	c.67- others(34): Show c.67-1374_67-1356delATATATATATATATATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CRKL_chr22_20912407_20958747	20950635	ACTCCTGA others(12): Show ACTCCTGACTTCAGGTGATC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0055 a0001c0001t0019g0055	1	370	0.0027	-19	c.79 others(28): Show c.792_*810delTCCTGACTTCAGGTGATCC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding	3/3	792	INFO_REALIGN_3_PRIME	chr22	TogoVar
CRK_chr17_1415693_1461232	1427030	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02109.hp1 HG02451.hp2 others(12): Show HG00597.hp1 HG02109.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03540.hp2 HG04115.hp2 NA18522.hp1 NA18906.hp1 NA18991.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0023	a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0302 others(11): Show a0001c0001t0003g0298 a0001c0001t0003g0300 a0001c0001t0003g0302 a0001c0001t0003g0308 a0001c0001t0003g0312 a0001c0001t0003g0323 a0001c0001t0003g0339 a0001c0001t0007g0282 a0001c0001t0007g0285 a0001c0001t0007g0296 a0001c0001t0012g0008 a0001c0001t0012g0274 a0001c0001t0012g0275 a0001c0001t0023g0283	15	404	0.0371	-19	c.778 others(36): Show c.778-3399_778-3381delTTTTTTTTTTTTTTTTTTT	CRK	ENSG00000167193.8	transcript	ENST00000300574.3	protein_coding	2/2			chr17	TogoVar
CRLS1_chr20_6001123_6045053	6011572	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG02895.hp2 others(2): Show HG02145.hp2 HG02615.hp2 HG02895.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0012 a0001c0001t0012g0145 a0001c0001t0012g0146 a0001c0001t0012g0012 a0001c0001t0012g0145 a0001c0001t0012g0146	5	366	0.0137	-19	c.444 others(36): Show c.444+1676_444+1694delTTTTTTTTTTTTTTTTTTT	CRLS1	ENSG00000088766.12	transcript	ENST00000378863.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRMP1_chr4_5815764_5898086	5846757	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01123.hp2 others(37): Show HG00438.hp1 HG00558.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp2 HG02071.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03492.hp1 HG03834.hp1 HG03942.hp2 NA18943.hp1 NA18945.hp2 NA18960.hp2 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18979.hp1 NA18989.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19056.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp1 NA19084.hp2 NA19088.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0015 a0001c0021 a0001c0031 a0001c0032	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0003t0001 a0001c0009t0001 a0001c0010t0001 a0001c0010t0004 a0001c0015t0001 a0001c0021t0003 a0001c0031t0004 a0001c0032t0013	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0088 others(37): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0277 a0001c0002t0001g0130 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0290 a0001c0002t0005g0084 a0001c0002t0009g0128 a0001c0003t0001g0083 a0001c0003t0001g0089 a0001c0003t0001g0137 a0001c0003t0001g0146 a0001c0003t0001g0152 a0001c0003t0001g0274 a0001c0003t0001g0278 a0001c0003t0001g0283 a0001c0009t0001g0291 a0001c0009t0001g0293 a0001c0009t0001g0303 a0001c0009t0001g0306 a0001c0009t0001g0308 a0001c0010t0001g0292 a0001c0010t0001g0294 a0001c0010t0001g0296 a0001c0010t0001g0305 a0001c0010t0001g0307 a0001c0010t0004g0302 a0001c0015t0001g0119 a0001c0021t0003g0298 a0001c0021t0003g0299 a0001c0031t0004g0301 a0001c0032t0013g0300	40	314	0.1274	-19	c.963 others(36): Show c.963+2616_963+2634delAAAAAAAAAAAAAAAAAAA	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	6/13			chr4	TogoVar
CRNKL1_chr20_20029368_20057466	20049026	TTTATTTT others(12): Show TTTATTTTTTTTGGCCATTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(147): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00741.hp1 HG01123.hp1 HG01167.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0003 a0001c0011 others(4): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0004c0007 a0006c0010 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0003t0002 a0001c0011t0004 a0002c0002t0001 a0002c0002t0004 a0004c0007t0002 a0006c0010t0004 a0007c0009t0004	a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0002g0001 others(45): Show a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0004g0041 a0001c0001t0004g0097 a0001c0001t0004g0119 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0006g0005 a0001c0001t0006g0042 a0001c0001t0006g0098 a0001c0001t0006g0101 a0001c0001t0006g0103 a0001c0001t0006g0110 a0001c0001t0006g0115 a0001c0001t0012g0035 a0001c0001t0012g0066 a0001c0001t0012g0068 a0001c0001t0015g0025 a0001c0001t0016g0036 a0001c0001t0021g0118 a0001c0001t0022g0104 a0001c0001t0023g0100 a0001c0001t0024g0114 a0001c0001t0025g0105 a0001c0001t0026g0106 a0001c0001t0027g0116 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0011t0004g0090 a0002c0002t0001g0069 a0002c0002t0004g0017 a0002c0002t0004g0094 a0004c0007t0002g0111 a0006c0010t0004g0089 a0007c0009t0004g0120	150	428	0.3505	-19	c.296 others(34): Show c.296+295_296+313delCAATGGCCAAAAAAAATAA	CRNKL1	ENSG00000101343.15	transcript	ENST00000536226.2	protein_coding	3/13			chr20	TogoVar
CROCC2_chr2_240901336_240998311	240984579	ACACACCC others(12): Show ACACACCCAGGCACTCACTC	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	350	0.0029	-19	c.455 others(38): Show c.4551+1556_4551+1574delCCAGGCACTCACTCCACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRPPA_chr7_16082525_16426538	16286039	ATATAAAT others(12): Show ATATAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0069 a0001c0001t0007g0069	1	290	0.0035	-19	c.836 others(36): Show c.836-7832_836-7814delATATATATATATATTTATA	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	5/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16286045	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0039 a0001c0001t0014g0039	1	290	0.0035	-19	c.836 others(36): Show c.836-7838_836-7820delATATATATATATATATATA	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	5/9			chr7	TogoVar
CRTAC1_chr10_97860000_98035621	98008586	GAGGCTTT others(12): Show GAGGCTTTCCATGCTCTGAA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0015 a0001c0003t0002g0015	1	204	0.0049	-19	c.224 others(36): Show c.224+2533_224+2551delTTCAGAGCATGGAAAGCCT	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	2/14			chr10	TogoVar
CRTAM_chr11_122833500_122877643	122861401	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0127 a0002c0002t0005g0127	1	428	0.0023	-19	c.653 others(36): Show c.653-1062_653-1044delATATATATATATATATATA	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	5/9			chr11	TogoVar
CRTAM_chr11_122833500_122877643	122861402	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0227 a0002c0002t0007g0227	1	428	0.0023	-19	c.653 others(36): Show c.653-1060_653-1042delATATATATATATATATATT	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CRTAM_chr11_122833500_122877643	122861404	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02135.hp2 HG02040.hp2 HG02135.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0073 a0003c0003t0003g0289 a0003c0003t0003g0073 a0003c0003t0003g0289	2	428	0.0047	-19	c.653 others(36): Show c.653-1058_653-1040delATATATATATATATATTTT	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CRTAM_chr11_122833500_122877643	122861406	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00621.hp1 others(38): Show HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp2 HG02630.hp2 HG02683.hp1 HG03704.hp1 HG04115.hp2 HG04184.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18956.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18994.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19084.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0014	a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 others(3): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 a0003c0003t0003 a0003c0003t0017 a0003c0014t0003	a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0321 others(27): Show a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0321 a0002c0002t0001g0178 a0002c0002t0006g0299 a0002c0002t0006g0322 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0023 a0003c0003t0003g0039 a0003c0003t0003g0141 a0003c0003t0003g0147 a0003c0003t0003g0148 a0003c0003t0003g0287 a0003c0003t0003g0300 a0003c0003t0003g0301 a0003c0003t0003g0302 a0003c0003t0003g0303 a0003c0003t0003g0304 a0003c0003t0003g0305 a0003c0003t0003g0306 a0003c0003t0003g0307 a0003c0003t0003g0308 a0003c0003t0003g0315 a0003c0003t0003g0318 a0003c0003t0003g0323 a0003c0003t0017g0251 a0003c0014t0003g0039	41	428	0.0958	-19	c.653 others(36): Show c.653-1056_653-1038delATATATATATATATTTTTT	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CRTAM_chr11_122833500_122877643	122861408	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18946.hp1 NA18985.hp1 others(2): Show HG03669.hp1 NA18946.hp1 NA18985.hp1 NA19062.hp2 NA20300.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0011c0019 a0003c0003 a0011c0019	a0003c0003t0003 a0011c0019t0009 a0003c0003t0003 a0011c0019t0009	a0003c0003t0003g0293 a0003c0003t0003g0319 a0003c0003t0003g0320 others(2): Show a0003c0003t0003g0293 a0003c0003t0003g0319 a0003c0003t0003g0320 a0003c0003t0003g0333 a0011c0019t0009g0176	5	428	0.0117	-19	c.653 others(36): Show c.653-1054_653-1036delATATATATATATTTTTTTT	CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CRTC3_chr15_90524923_90650345	90533084	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02280.hp1 HG01099.hp2 HG02280.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0009 a0003c0003t0001 a0001c0001t0009 a0003c0003t0001	a0001c0001t0009g0195 a0003c0003t0001g0060 a0001c0001t0009g0195 a0003c0003t0001g0060	2	276	0.0073	-19	c.132 others(36): Show c.132+2900_132+2918delAAAAAAAAAAAAAAAAAAA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647660	CCCTCCTC others(12): Show CCCTCCTCCTCCTCACCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02630.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0131 a0002c0002t0013g0194 a0002c0002t0013g0131 a0002c0002t0013g0194	2	276	0.0073	-19	c.55 others(30): Show c.5521_*5539delCCTCCTCCTCCTCACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2316		chr15	TogoVar
CRX_chr19_47816937_47848324	47827836	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02273.hp1 HG02818.hp2 HG01952.hp2 HG02273.hp1 HG02818.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0024 a0003c0003t0002 a0001c0001t0002 a0001c0001t0024 a0003c0003t0002	a0001c0001t0002g0249 a0001c0001t0024g0167 a0003c0003t0002g0230 a0001c0001t0002g0249 a0001c0001t0024g0167 a0003c0003t0002g0230	3	344	0.0087	-19	c.-36 others(36): Show c.-36+5843_-36+5861delAAAAAAAAAAAAAAAAAAA	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRYAA_chr21_43164008_43177805	43172427	AGCTTAGG others(12): Show AGCTTAGGGTCTCAGGGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	40	0.0250	-19	c.14 others(28): Show c.148_*166delGCTTAGGGTCTCAGGGTGT	CRYAA	ENSG00000160202.7	transcript	ENST00000291554.6	protein_coding	3/3	148		chr21	TogoVar
CRYBB2_chr22_25214639_25236869	25218735	GGGAGAGA others(12): Show GGGAGAGAGAGAGAGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	464	0.0022	-19	c.-95 others(28): Show c.-957_-939delGGAGAGAGAGAGAGAGAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		903		chr22	TogoVar
CRYL1_chr13_20398669_20530857	20508857	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(59): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01168.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03942.hp1 HG04115.hp2 NA18943.hp2 NA18945.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18963.hp2 NA18968.hp2 NA18971.hp1 NA18981.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19009.hp1 NA19062.hp1 NA19066.hp2 NA19081.hp2 NA19084.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 others(59): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0091 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0226 a0001c0001t0001g0238 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0181 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0004g0109 a0001c0002t0001g0077 a0001c0002t0001g0169 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0239 a0001c0002t0002g0004 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0084 a0001c0002t0002g0098 a0001c0002t0002g0122 a0001c0002t0002g0176 a0001c0002t0002g0205 a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0003g0247 a0001c0004t0001g0032 a0001c0004t0002g0025	62	250	0.2480	-19	c.149 others(36): Show c.149+3567_149+3585delGTTTTTTTTTTTTTTTTTT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CSF2RA_chrX_1263814_1314935	1314205	GCACTGCA others(12): Show GCACTGCACCTGCCCAACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01981.hp2 NA19081.hp1 HG00423.hp1 HG01981.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0086	3	159	0.0189	-19	c.47 others(30): Show c.4727_*4745delCACTGCACCTGCCCAACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4271		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314250	ACCTGCCC others(12): Show ACCTGCCCAACCCCACTGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG01928.hp1 others(3): Show HG01081.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0008	a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0002g0032 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0002g0032 a0001c0001t0003g0044 a0001c0001t0003g0116 a0001c0002t0008g0082	6	159	0.0377	-19	c.47 others(30): Show c.4772_*4790delCCTGCCCAACCCCACTGCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4316		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314307	GCCTGCCC others(12): Show GCCTGCCCAACCACACTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0137 a0002c0003t0005g0137	1	159	0.0063	-19	c.48 others(30): Show c.4829_*4847delCCTGCCCAACCACACTGCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4373		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314668	ACTTGCCC others(12): Show ACTTGCCCAACCCCTCTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	159	0.0063	-19	c.51 others(30): Show c.5190_*5208delCTTGCCCAACCCCTCTGTG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4734		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314697	CCCCACTG others(12): Show CCCCACTGTGCCTGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02976.hp2 HG03540.hp2 HG02559.hp1 HG02976.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0005 a0002c0006t0005 a0001c0005t0005 a0002c0006t0005	a0001c0005t0005g0009 a0001c0005t0005g0136 a0002c0006t0005g0028 a0001c0005t0005g0009 a0001c0005t0005g0136 a0002c0006t0005g0028	3	159	0.0189	-19	c.52 others(30): Show c.5219_*5237delCCCACTGTGCCTGCCCAAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4763		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314699	CCACTGTG others(12): Show CCACTGTGCCTGCCCAATCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01175.hp1 HG02809.hp1 others(1): Show HG01106.hp1 HG01175.hp1 HG02809.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0002c0003t0002 a0001c0001t0003 a0001c0001t0004 a0002c0003t0002	a0001c0001t0003g0044 a0001c0001t0004g0055 a0001c0001t0004g0057 others(1): Show a0001c0001t0003g0044 a0001c0001t0004g0055 a0001c0001t0004g0057 a0002c0003t0002g0005	4	159	0.0252	-19	c.52 others(30): Show c.5221_*5239delCACTGTGCCTGCCCAATCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4765		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314718	GCACTGCA others(12): Show GCACTGCACCTGCCCAATCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01981.hp2 HG02004.hp1 others(4): Show HG00423.hp1 HG01981.hp2 HG02004.hp1 HG02155.hp1 HG03710.hp1 HG04184.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0025 a0001c0001t0001g0068 a0001c0001t0001g0076 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0003g0045 a0001c0001t0003g0097 a0001c0001t0003g0118	7	159	0.0440	-19	c.52 others(30): Show c.5240_*5258delCACTGCACCTGCCCAATCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4784		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314813	CCACTGTG others(12): Show CCACTGTGCCTGCCCAACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01975.hp1 HG01891.hp1 HG01975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0005 a0001c0001t0003 a0002c0003t0005	a0001c0001t0003g0116 a0002c0003t0005g0137 a0001c0001t0003g0116 a0002c0003t0005g0137	2	159	0.0126	-19	c.53 others(30): Show c.5335_*5353delCACTGTGCCTGCCCAACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4879		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314851	CCACTGCA others(12): Show CCACTGCACCTGCCCAACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	159	0.0063	-19	c.53 others(30): Show c.5373_*5391delCACTGCACCTGCCCAACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4917		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314870	GCACTGCA others(12): Show GCACTGCACCTGCCCAACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0155 a0001c0002t0005g0134 a0001c0001t0005g0155 a0001c0002t0005g0134	2	159	0.0126	-19	c.53 others(30): Show c.5392_*5410delCACTGCACCTGCCCAACCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4936		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314883	CCAACCAC others(12): Show CCAACCACACTGAACCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 homoSapiens_chm13v2.hp1 HG02717.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0005 a0001c0002t0002 a0002c0003t0005	a0001c0002t0002g0112 a0002c0003t0005g0146 a0001c0002t0002g0112 a0002c0003t0005g0146	2	159	0.0126	-19	c.54 others(30): Show c.5405_*5423delCAACCACACTGAACCTGCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4949		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314894	GAACCTGC others(12): Show GAACCTGCTCAACCCCACTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02976.hp2 HG03098.hp2 others(1): Show HG02559.hp1 HG02976.hp2 HG03098.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0005 a0001c0005t0011 a0002c0006t0005 a0001c0005t0005 a0001c0005t0011 a0002c0006t0005	a0001c0005t0005g0009 a0001c0005t0005g0136 a0001c0005t0011g0091 others(1): Show a0001c0005t0005g0009 a0001c0005t0005g0136 a0001c0005t0011g0091 a0002c0006t0005g0028	4	159	0.0252	-19	c.54 others(30): Show c.5416_*5434delAACCTGCTCAACCCCACTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4960		chrX	TogoVar
CSF3_chr17_40010440_40022813	40014177	CACGGTGA others(12): Show CACGGTGAAACCCCGTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-19	c.-12 others(30): Show c.-1297_-1279delACGGTGAAACCCCGTCTCT	CSF3	ENSG00000108342.13	transcript	ENST00000394149.8	protein_coding		1262		chr17	TogoVar
CSGALNACT1_chr8_19399161_19762277	19525615	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 NA19030.hp2 HG01106.hp1 HG01243.hp2 NA19030.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0003 a0012c0021 a0001c0002 a0002c0003 a0012c0021	a0001c0002t0048 a0002c0003t0011 a0012c0021t0040 a0001c0002t0048 a0002c0003t0011 a0012c0021t0040	a0001c0002t0048g0238 a0002c0003t0011g0188 a0012c0021t0040g0178 a0001c0002t0048g0238 a0002c0003t0011g0188 a0012c0021t0040g0178	3	238	0.0126	-19	c.-29 others(40): Show c.-296-19504_-296-19486delTTTTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667011	GAAAGAAA others(12): Show GAAAGAAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0080 a0001c0002t0005g0080	1	238	0.0042	-19	c.-39 others(40): Show c.-391-65165_-391-65147delTTCCTTCCTTCCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar

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