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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRTC1_chr19_18678680_18787333	18689583	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01517.hp1 HG02300.hp1 others(9): Show HG00558.hp1 HG01517.hp1 HG02300.hp1 HG02615.hp1 HG02615.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp2 NA18522.hp1 NA18977.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0056 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0153 a0001c0001t0003g0052 a0001c0001t0005g0055 a0001c0001t0006g0053 a0001c0001t0014g0023	12	274	0.0438	24	c.126 others(41): Show c.126+5758_126+5759insATATATATATATATATATATGTAT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18689583	A A	ATATATAT others(17): Show ATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	274	0.0037	24	c.126 others(41): Show c.126+5758_126+5759insATATATATATATATATGTATGTAT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18728815	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01109.hp1 others(23): Show HG00408.hp1 HG00639.hp2 HG01109.hp1 HG01123.hp1 HG01891.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02148.hp1 HG02300.hp1 HG02647.hp1 HG02698.hp1 HG02922.hp1 HG03654.hp2 HG04184.hp2 NA18940.hp1 NA18970.hp1 NA18977.hp2 NA19000.hp1 NA19005.hp1 NA19067.hp2 NA19074.hp1 NA19080.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0056 others(23): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0250 a0005c0009t0001g0068	26	274	0.0949	24	c.127 others(43): Show c.127-14080_127-14079insTTTTTTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18786763	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	274	0.0037	24	c.93 others(35): Show c.9381_*9382insTTTTTTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding		4431		chr19	TogoVar
CRTC3_chr15_90524923_90650345	90567691	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	276	0.0036	24	c.232 others(43): Show c.232-25941_232-25918dupTAAATAAATAAATAAATAAATAAA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(17): Show TGTGTGTGCACGCGCGTGAGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02258.hp2 others(5): Show HG00642.hp1 HG01433.hp2 HG02258.hp2 HG02717.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0002c0002t0009	a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 others(5): Show a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0008g0226 a0001c0001t0009g0206 a0002c0002t0009g0223	8	344	0.0233	24	c.-19 others(35): Show c.-1912_-1911insGTGTGTGCACGCGCGTGAGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(17): Show TGTGTGTGCACGCGCGTGCGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG03098.hp2 HG00741.hp1 HG03098.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0004c0004t0033 a0001c0001t0005 a0004c0004t0033	a0001c0001t0005g0106 a0004c0004t0033g0121 a0001c0001t0005g0106 a0004c0004t0033g0121	2	344	0.0058	24	c.-19 others(35): Show c.-1912_-1911insGTGTGTGCACGCGCGTGCGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRX_chr19_47816937_47848324	47839141	G G	GGTATGAT others(17): Show GGTATGATTGGATGGATAGATGGAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0164 a0001c0001t0032g0164	1	344	0.0029	24	c.253 others(39): Show c.253-177_253-154dupTATGATTGGATGGATAGATGGATG	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRYBA4_chr22_26616963_26635669	26627334	C C	CCCCTCCC others(17): Show CCCCTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01257.hp2 others(9): Show HG00741.hp1 HG01074.hp2 HG01257.hp2 HG01952.hp2 HG02004.hp1 HG02293.hp2 HG02896.hp2 HG03195.hp1 NA18948.hp2 NA18966.hp1 NA19063.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0226 others(6): Show a0001c0001t0001g0025 a0001c0001t0001g0047 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0293 a0001c0001t0001g0294	12	402	0.0299	24	c.301 others(39): Show c.301-951_301-928dupCTCCCTCCCTCCCTCCCTCCCTCC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	402	0.0025	24	c.301 others(39): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCCTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	402	0.0025	24	c.301 others(39): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(17): Show CCCTCCCTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03688.hp2 HG02273.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0095 a0001c0003t0001g0195 a0001c0001t0001g0095 a0001c0003t0001g0195	2	402	0.0050	24	c.301 others(39): Show c.301-928_301-927insCTCCCTCCTTTCTTTCTTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCTT others(17): Show CCCTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	402	0.0025	24	c.301 others(39): Show c.301-928_301-927insCTCCTTTCTTTCTTTCTTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	464	0.0022	24	c.-91 others(33): Show c.-914_-913insAAGAAAGAAAGAAAGAAAGAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218820	A A	AAGAAAGA others(17): Show AAGAAAGAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	464	0.0022	24	c.-87 others(33): Show c.-873_-872insAGAAAGAGAAAGAAAGAAAGAAAG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		818		chr22	TogoVar
CRYBB3_chr22_25194858_25212359	25207646	C C	CCCATTCA others(17): Show CCCATTCACCCACTCATGTGCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	454	0.0022	24	c.43 others(33): Show c.434_*435insCCATTCACCCACTCATGTGCCCAT	CRYBB3	ENSG00000100053.10	transcript	ENST00000215855.7	protein_coding		288		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp2 HG01243.hp2 HG03453.hp2	a0021 a0060 a0021 a0060	a0021c0026 a0060c0072 a0021c0026 a0060c0072	a0021c0026t0001 a0060c0072t0001 a0021c0026t0001 a0060c0072t0001	a0021c0026t0001g0156 a0060c0072t0001g0254 a0021c0026t0001g0156 a0060c0072t0001g0254	2	272	0.0074	24	c.173 others(43): Show c.173+16544_173+16567dupATATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422344	A A	ATTTATTT others(17): Show ATTTATTTATTTATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0047 a0002c0003t0006g0048 a0002c0003t0006g0047 a0002c0003t0006g0048	2	272	0.0074	24	c.174 others(43): Show c.174-29347_174-29346insATTTATTTATTTATTTTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422344	A A	ATTTATTT others(17): Show ATTTATTTATTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	272	0.0037	24	c.174 others(43): Show c.174-29347_174-29346insATTTATTTATTTTTTTTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106433729	A A	ATATATAT others(17): Show ATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp1 HG03453.hp1 others(1): Show HG02630.hp2 HG02976.hp1 HG03453.hp1 HG03486.hp1	a0006 a0007 a0012 a0006 a0007 a0012	a0006c0005 a0007c0007 a0012c0015 a0006c0005 a0007c0007 a0012c0015	a0006c0005t0004 a0007c0007t0003 a0007c0007t0004 others(1): Show a0006c0005t0004 a0007c0007t0003 a0007c0007t0004 a0012c0015t0007	a0006c0005t0004g0235 a0007c0007t0003g0085 a0007c0007t0004g0109 others(1): Show a0006c0005t0004g0235 a0007c0007t0003g0085 a0007c0007t0004g0109 a0012c0015t0007g0245	4	272	0.0147	24	c.174 others(43): Show c.174-17959_174-17958insTGTATATATATATATATGTATATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106433731	A A	ATATATGT others(17): Show ATATATGTATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0019 a0019	a0019c0020 a0019c0020	a0019c0020t0007 a0019c0020t0007	a0019c0020t0007g0080 a0019c0020t0007g0080	1	272	0.0037	24	c.174 others(43): Show c.174-17959_174-17958insTGTATATATATATATATGTGTATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106447547	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01496.hp1 NA18947.hp1 others(2): Show HG00408.hp1 HG01496.hp1 NA18947.hp1 NA18963.hp2 NA18993.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0009 a0003c0002 others(1): Show a0001c0001 a0001c0009 a0003c0002 a0004c0004	a0001c0001t0001 a0001c0009t0001 a0003c0002t0005 others(1): Show a0001c0001t0001 a0001c0009t0001 a0003c0002t0005 a0004c0004t0002	a0001c0001t0001g0100 a0001c0009t0001g0172 a0003c0002t0005g0031 others(2): Show a0001c0001t0001g0100 a0001c0009t0001g0172 a0003c0002t0005g0031 a0003c0002t0005g0152 a0004c0004t0002g0111	5	272	0.0184	24	c.174 others(41): Show c.174-4144_174-4121dupATATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106447570	A A	ATATATAT others(17): Show ATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	272	0.0037	24	c.174 others(41): Show c.174-4121_174-4120insATATATATATATATATATATCTAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(17): Show CTTCTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG04199.hp2 NA18946.hp1 others(4): Show HG02300.hp1 HG04199.hp2 NA18946.hp1 NA18982.hp1 NA19002.hp2 NA19078.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0080 a0001c0001t0002g0004 a0001c0002t0001g0002 others(1): Show a0001c0001t0001g0080 a0001c0001t0002g0004 a0001c0002t0001g0002 a0001c0002t0001g0092	7	452	0.0155	24	c.17 others(35): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20497462	C C	CACCACAC others(17): Show CACCACACACACCACCATACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp2 NA19240.hp1 HG02717.hp1 HG02818.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0090 a0001c0005t0001g0079 a0001c0005t0001g0081 a0001c0002t0001g0090 a0001c0005t0001g0079 a0001c0005t0001g0081	3	250	0.0120	24	c.150 others(41): Show c.150-7967_150-7966insTGTGTGTATGGTGGTGTGTGTGGT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01516.hp1 others(8): Show HG00741.hp1 HG01099.hp2 HG01516.hp1 HG02602.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 NA18967.hp1 NA18979.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0056 a0001c0001t0001g0166 a0001c0001t0001g0167 others(8): Show a0001c0001t0001g0056 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0219 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0275 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0005g0348	11	360	0.0306	24	c.332 others(41): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	334	0.0030	24	c.-35 others(35): Show c.-3510_-3509insGCGCGCGCGCACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	24	c.-35 others(35): Show c.-3510_-3509insGCGCACACACACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02071.hp1 others(22): Show HG01168.hp1 HG01169.hp2 HG02071.hp1 HG02523.hp1 HG02572.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18951.hp1 NA18957.hp1 NA18963.hp1 NA18979.hp2 NA19005.hp1 NA19055.hp1 NA19056.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19086.hp1 NA19090.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0001c0001t0001 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0016 a0001c0001t0001g0092 a0002c0002t0002g0010 others(7): Show a0001c0001t0001g0016 a0001c0001t0001g0092 a0002c0002t0002g0010 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0068 a0002c0002t0002g0072 a0003c0003t0003g0009 a0003c0003t0003g0048 a0003c0003t0003g0050	25	318	0.0786	24	c.17- others(39): Show c.17-1769_17-1768insTATATATATATATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG01361.hp1 others(23): Show HG00741.hp2 HG01255.hp1 HG01361.hp1 HG01516.hp2 HG02080.hp1 HG02155.hp2 HG02976.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG06807.hp2 NA18906.hp2 NA18943.hp1 NA18969.hp1 NA18984.hp1 NA18990.hp1 NA19002.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19078.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0022 a0002c0002t0002g0026 others(2): Show a0002c0002t0002g0002 a0002c0002t0002g0022 a0002c0002t0002g0026 a0002c0002t0002g0032 a0002c0002t0002g0044	26	318	0.0818	24	c.17- others(39): Show c.17-1786_17-1785insGTATATATATATATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709629	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	211	0.0047	24	c.-51 others(33): Show c.-518_-517insTTCTCTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		357		chrX	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(17): Show GACACACAGACACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0129 a0001c0001t0046g0129	1	288	0.0035	24	c.-25 others(33): Show c.-255_-254insGACACACACACACACACACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10913	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0364 a0001c0002t0001g0364	1	386	0.0026	24	c.-12 others(41): Show c.-12+1146_-12+1169dupTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18964.hp1 NA19076.hp2 others(1): Show HG00609.hp1 NA18964.hp1 NA19076.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0053 a0001c0001t0002g0056 others(1): Show a0001c0001t0002g0043 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057	4	386	0.0104	24	c.229 others(39): Show c.229-875_229-852dupTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02523.hp1 others(5): Show HG02258.hp1 HG02258.hp2 HG02523.hp1 HG04228.hp1 NA18522.hp2 NA18967.hp1 NA19011.hp1 NA19091.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0009 a0008c0016	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0002c0003t0001 a0004c0009t0008 a0008c0016t0004	a0001c0001t0003g0124 a0001c0001t0004g0333 a0001c0001t0012g0334 others(5): Show a0001c0001t0003g0124 a0001c0001t0004g0333 a0001c0001t0012g0334 a0001c0002t0001g0172 a0002c0003t0001g0297 a0004c0009t0008g0215 a0004c0009t0008g0296 a0008c0016t0004g0303	8	406	0.0197	24	c.49+ others(39): Show c.49+2012_49+2035dupCTTTCTTTCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02074.hp2 others(1): Show HG01081.hp2 HG02055.hp2 HG02074.hp2 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0004 a0001c0005t0001 a0002c0003t0001 others(1): Show a0001c0001t0004 a0001c0005t0001 a0002c0003t0001 a0002c0003t0005	a0001c0001t0004g0115 a0001c0005t0001g0281 a0002c0003t0001g0266 others(1): Show a0001c0001t0004g0115 a0001c0005t0001g0281 a0002c0003t0001g0266 a0002c0003t0005g0327	4	406	0.0099	24	c.49+ others(39): Show c.49+1988_49+1989insCTTCTTTCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(17): Show AGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03654.hp2 NA19055.hp1 HG03492.hp2 HG03654.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0004 a0002c0003t0002 a0001c0005t0004 a0002c0003t0002	a0001c0005t0004g0247 a0001c0005t0004g0351 a0002c0003t0002g0274 a0001c0005t0004g0247 a0001c0005t0004g0351 a0002c0003t0002g0274	3	406	0.0074	24	c.49+ others(39): Show c.49+1988_49+1989insCTTCCTTCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1280910	T T	TCTCCTCC others(17): Show TCTCCTCCTCCTCCTCCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0147 a0002c0003t0001g0147	1	159	0.0063	24	c.-26 others(41): Show c.-26-1756_-26-1733dupCCTCCTTCTCCTCCTCCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG00738.hp2 others(13): Show HG00408.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01192.hp2 HG01934.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG03516.hp1 HG03516.hp2 HG03831.hp1 NA19087.hp1 NA20805.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0006 a0002c0003 others(1): Show a0001c0002 a0001c0006 a0002c0003 a0009c0020	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(9): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0043 a0001c0006t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0009 a0002c0003t0015 a0002c0003t0029 a0002c0003t0034 a0009c0020t0030	a0001c0002t0002g0008 a0001c0002t0002g0067 a0001c0002t0002g0234 others(13): Show a0001c0002t0002g0008 a0001c0002t0002g0067 a0001c0002t0002g0234 a0001c0002t0003g0098 a0001c0002t0004g0038 a0001c0002t0043g0097 a0001c0006t0002g0136 a0002c0003t0003g0109 a0002c0003t0004g0006 a0002c0003t0004g0014 a0002c0003t0004g0104 a0002c0003t0009g0168 a0002c0003t0015g0133 a0002c0003t0029g0170 a0002c0003t0034g0054 a0009c0020t0030g0182	16	238	0.0672	24	c.122 others(41): Show c.1228-279_1228-256dupGTGTGTGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19485759	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0117 a0001c0002t0004g0117	1	238	0.0042	24	c.634 others(43): Show c.634+19418_634+19441dupAAAAAAAAAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(17): Show CTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	238	0.0042	24	c.-29 others(43): Show c.-296-7307_-296-7306insTATATATATATATATATAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp1 HG00639.hp1 HG01069.hp2 HG01071.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0004 a0001c0002t0002 a0002c0003t0004	a0001c0002t0002g0009 a0001c0002t0002g0010 a0002c0003t0004g0033 a0001c0002t0002g0009 a0001c0002t0002g0010 a0002c0003t0004g0033	3	238	0.0126	24	c.-29 others(43): Show c.-296-7307_-296-7306insTATATATATATATATAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19057.hp1 NA18993.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0002g0059 a0001c0001t0001g0021 a0001c0001t0002g0059	2	238	0.0084	24	c.-29 others(43): Show c.-296-7307_-296-7306insTATATATATATATAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	238	0.0042	24	c.-29 others(43): Show c.-296-7307_-296-7306insTATATATATATAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18988.hp1 HG02735.hp1 NA18988.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0009 a0002c0003 a0004c0009	a0002c0003t0029 a0004c0009t0012 a0002c0003t0029 a0004c0009t0012	a0002c0003t0029g0170 a0004c0009t0012g0070 a0002c0003t0029g0170 a0004c0009t0012g0070	2	238	0.0084	24	c.-29 others(43): Show c.-296-8369_-296-8346dupTATATATATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514495	A A	ATATATAT others(17): Show ATATATATATATACTATATATATAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	238	0.0042	24	c.-29 others(43): Show c.-296-8366_-296-8365insGTATATATATAGTATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp2 HG02074.hp1 others(3): Show HG00438.hp1 HG01257.hp2 HG02074.hp1 HG04115.hp1 NA18977.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0002g0205 others(3): Show a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0002g0205 a0001c0001t0002g0217 a0001c0001t0010g0202 a0001c0002t0002g0236	6	238	0.0252	24	c.-29 others(45): Show c.-296-35447_-296-35424dupAAAAAAAAAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp1 HG01361.hp1 others(14): Show HG00673.hp2 HG01192.hp1 HG01361.hp1 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG02886.hp1 HG02922.hp2 HG03669.hp1 HG06807.hp1 NA18906.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA19056.hp1 NA20300.hp1 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0010	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0002c0008 a0004c0009 a0008c0016 a0010c0018	a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 others(10): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 a0001c0002t0023 a0001c0002t0041 a0001c0007t0039 a0002c0003t0005 a0002c0003t0007 a0002c0004t0012 a0002c0008t0003 a0004c0009t0012 a0008c0016t0009 a0010c0018t0003	a0001c0001t0002g0204 a0001c0001t0002g0223 a0001c0002t0002g0027 others(14): Show a0001c0001t0002g0204 a0001c0001t0002g0223 a0001c0002t0002g0027 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0080 a0001c0002t0023g0096 a0001c0002t0041g0031 a0001c0007t0039g0041 a0002c0003t0005g0113 a0002c0003t0007g0128 a0002c0004t0012g0200 a0002c0008t0003g0155 a0002c0008t0003g0156 a0004c0009t0012g0070 a0008c0016t0009g0161 a0010c0018t0003g0039	17	238	0.0714	24	c.-29 others(45): Show c.-296-47491_-296-47490insATATATATATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0049 a0001c0002t0016g0049	1	238	0.0042	24	c.-29 others(45): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	238	0.0042	24	c.-29 others(43): Show c.-297+2275_-297+2298dupCTTTCTTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)