Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01975.hp1 HG03927.hp1 HG00140.hp1 HG01975.hp1 HG03927.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0004 a0001c0001 a0001c0009 a0004c0004	a0001c0001t0001 a0001c0009t0001 a0004c0004t0005 a0001c0001t0001 a0001c0009t0001 a0004c0004t0005	a0001c0001t0001g0210 a0001c0009t0001g0220 a0004c0004t0005g0014 a0001c0001t0001g0210 a0001c0009t0001g0220 a0004c0004t0005g0014	3	372	0.0081	44	c.111 others(61): Show c.1113+207_1113+208insGTATATATATATATATATATATATATAT ATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIRBP_chr19_1264332_1279810	1275043	G G	GTCAGGCC others(37): Show GTCAGGCCCCGTCTTGGGCCGAGTCCCGGGTTCCCTGTAGCAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	280	0.0036	44	c.26 others(55): Show c.2600_*2601insTCAGGCCCCGTCTTGGGCCGAGTCCCGGGTTCCC TGTAGCAGGC	CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding		234		chr19	TogoVar
CLCN1_chr7_143311111_143357083	143326268	T T	TTGGCCTC others(37): Show TTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00735.hp1 others(75): Show HG00140.hp2 HG00642.hp2 HG00735.hp1 HG01109.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01952.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18974.hp1 NA18987.hp1 NA19030.hp2 NA19043.hp1 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0012 a0013 a0014	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0028 a0001c0029 a0001c0032 a0002c0002 a0002c0005 a0002c0012 a0002c0023 a0002c0033 a0004c0009 a0005c0010 a0005c0030 a0012c0031 a0013c0024 a0014c0025	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(17): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0008t0001 a0001c0028t0001 a0001c0029t0001 a0001c0032t0001 a0002c0002t0001 a0002c0005t0001 a0002c0012t0001 a0002c0023t0001 a0002c0033t0001 a0004c0009t0001 a0005c0010t0001 a0005c0030t0001 a0012c0031t0001 a0013c0024t0001 a0014c0025t0001	a0001c0001t0001g0120 a0001c0001t0001g0322 a0001c0001t0001g0379 others(71): Show a0001c0001t0001g0120 a0001c0001t0001g0322 a0001c0001t0001g0379 a0001c0003t0001g0132 a0001c0003t0001g0343 a0001c0004t0001g0026 a0001c0004t0001g0028 a0001c0004t0001g0031 a0001c0004t0001g0034 a0001c0004t0001g0039 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0050 a0001c0004t0001g0052 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0102 a0001c0004t0001g0105 a0001c0004t0001g0109 a0001c0004t0001g0111 a0001c0004t0001g0333 a0001c0004t0001g0340 a0001c0004t0001g0341 a0001c0004t0001g0352 a0001c0004t0002g0088 a0001c0006t0001g0055 a0001c0006t0001g0063 a0001c0006t0001g0103 a0001c0006t0001g0110 a0001c0006t0001g0350 a0001c0006t0001g0380 a0001c0006t0001g0385 a0001c0008t0001g0002 a0001c0008t0001g0054 a0001c0008t0001g0056 a0001c0008t0001g0108 a0001c0008t0001g0378 a0001c0028t0001g0357 a0001c0029t0001g0377 a0001c0032t0001g0066 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0131 a0002c0002t0001g0133 a0002c0002t0001g0387 a0002c0005t0001g0022 a0002c0005t0001g0033 a0002c0005t0001g0035 a0002c0005t0001g0041 a0002c0005t0001g0043 a0002c0005t0001g0049 a0002c0005t0001g0051 a0002c0005t0001g0057 a0002c0005t0001g0059 a0002c0005t0001g0060 a0002c0005t0001g0104 a0002c0005t0001g0337 a0002c0005t0001g0338 a0002c0005t0001g0339 a0002c0012t0001g0029 a0002c0012t0001g0058 a0002c0023t0001g0342 a0002c0033t0001g0381 a0004c0009t0001g0020 a0005c0010t0001g0023 a0005c0010t0001g0024 a0005c0030t0001g0044 a0012c0031t0001g0053 a0013c0024t0001g0358 a0014c0025t0001g0359	78	414	0.1884	44	c.853 others(61): Show c.853+1782_853+1783insCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCGTGCCTGGCCT	CLCN1	ENSG00000188037.14	transcript	ENST00000343257.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLCN4_chrX_10151975_10242660	10216897	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0147 a0001c0002t0004g0147	1	264	0.0038	44	c.197 others(63): Show c.1975+2840_1975+2841insTATATATATATATATATATATATATA TATATATATATATATATA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLCN4_chrX_10151975_10242660	10216918	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0036 a0001c0002t0004g0036	1	264	0.0038	44	c.197 others(63): Show c.1975+2840_1975+2841insTATATATATATATATATATATATATA TATATATATATATATACA	CLCN4	ENSG00000073464.13	transcript	ENST00000380833.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLEC2A_chr12_9908227_9937370	9933081	G G	GTGTTTGC others(37): Show GTGTTTGCAGTAAGTAGTTCTTCCTTTTATTTCTTAGTAGATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	436	0.0023	44	c.-75 others(53): Show c.-753_-752insGGAATCTACTAAGAAATAAAAGGAAGAACTACTTAC TGCAAACA	CLEC2A	ENSG00000188393.9	transcript	ENST00000455827.2	protein_coding		712		chr12	TogoVar
CLEC2L_chr7_139518685_139549985	139523267	T T	TCACTTCG others(37): Show TCACTTCGCTTGCTCCTTTAGACTCTACTGTCTCTGTGCTCATCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	308	0.0033	44	c.-66 others(53): Show c.-661_-660insCACTTCGCTTGCTCCTTTAGACTCTACTGTCTCTGT GCTCATCG	CLEC2L	ENSG00000236279.7	transcript	ENST00000422142.7	protein_coding		417		chr7	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	432	0.0023	44	c.-80 others(53): Show c.-805_-804insATATATATATATATATATATATTTTTTTTTTTTTTT TTTTTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLEC4G_chr19_7723957_7737110	7732906	A A	AAAAAATA others(37): Show AAAAAATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	44	c.-80 others(53): Show c.-805_-804insATATATATATATATATATATATATATATATATATAT ATATTTTT	CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding		797		chr19	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18954.hp2 HG01243.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0108 a0001c0001t0003g0155 a0001c0001t0001g0108 a0001c0001t0003g0155	2	254	0.0079	44	c.28+ others(61): Show c.28+44432_28+44433insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03453.hp1 NA18961.hp2 HG00639.hp2 HG03453.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0040 a0001c0001t0002 a0001c0001t0003 a0001c0001t0040	a0001c0001t0002g0239 a0001c0001t0003g0175 a0001c0001t0040g0157 a0001c0001t0002g0239 a0001c0001t0003g0175 a0001c0001t0040g0157	3	254	0.0118	44	c.28+ others(61): Show c.28+44432_28+44433insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123150480	A A	AAAGAAAG others(37): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0049 a0001c0001t0008 a0001c0001t0049	a0001c0001t0008g0236 a0001c0001t0049g0252 a0001c0001t0008g0236 a0001c0001t0049g0252	2	254	0.0079	44	c.28+ others(61): Show c.28+44432_28+44433insCCTTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLNK_chr4_10481395_10689768	10537702	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	320	0.0031	44	c.602 others(61): Show c.602+2791_602+2792insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(37): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	320	0.0031	44	c.602 others(61): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGGAAG GAAGGAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(37): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0241 a0001c0001t0005g0241	1	320	0.0031	44	c.602 others(61): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(37): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02970.hp2 NA18999.hp2 HG02135.hp2 HG02970.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0104 a0001c0001t0001g0283 a0001c0001t0003g0240 a0001c0001t0001g0104 a0001c0001t0001g0283 a0001c0001t0003g0240	3	320	0.0094	44	c.602 others(61): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10537706	C C	CCTTCCTT others(37): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02622.hp2 HG03490.hp1 others(1): Show HG00408.hp1 HG02622.hp2 HG03490.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013	a0001c0001t0002g0017 a0001c0001t0008g0319 a0001c0001t0010g0313 others(1): Show a0001c0001t0002g0017 a0001c0001t0008g0319 a0001c0001t0010g0313 a0001c0001t0013g0218	4	320	0.0125	44	c.602 others(61): Show c.602+2787_602+2788insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGGAAG	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	11/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00639.hp1 others(9): Show HG00323.hp2 HG00558.hp2 HG00639.hp1 HG01099.hp2 HG02293.hp2 HG02723.hp1 HG02922.hp1 NA18945.hp1 NA18969.hp1 NA18970.hp2 NA18983.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0047 a0001c0005t0027	a0001c0001t0002g0079 a0001c0001t0003g0225 a0001c0001t0003g0240 others(9): Show a0001c0001t0002g0079 a0001c0001t0003g0225 a0001c0001t0003g0240 a0001c0001t0008g0213 a0001c0001t0009g0300 a0001c0001t0010g0211 a0001c0001t0013g0218 a0001c0001t0023g0195 a0001c0001t0024g0227 a0001c0001t0026g0201 a0001c0001t0047g0226 a0001c0005t0027g0275	12	320	0.0375	44	c.11+ others(61): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT ATATATATATATATAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLNK_chr4_10481395_10689768	10654393	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01515.hp1 HG01517.hp1 others(1): Show HG01109.hp2 HG01515.hp1 HG01517.hp1 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0007 a0003c0003t0017 a0003c0003t0003 a0003c0003t0007 a0003c0003t0017	a0003c0003t0003g0297 a0003c0003t0007g0117 a0003c0003t0017g0112 others(1): Show a0003c0003t0003g0297 a0003c0003t0007g0117 a0003c0003t0017g0112 a0003c0003t0017g0113	4	320	0.0125	44	c.11+ others(61): Show c.11+13465_11+13466insCATATATATATATATATATATATATATA TATATATATATATATA	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLPB_chr11_72280495_72439531	72377649	A A	AAAGGGGA others(37): Show AAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0041 a0001c0001t0039 a0001c0001t0041	a0001c0001t0039g0155 a0001c0001t0041g0154 a0001c0001t0039g0155 a0001c0001t0041g0154	2	206	0.0097	44	c.646 others(61): Show c.646+2588_646+2631dupCCCTTCCCCTTCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTT	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	4/16			chr11	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	408	0.0025	44	c.253 others(61): Show c.253+3142_253+3143insAAAAAATATATATATATATATATATATA TATATATATATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(37): Show CTATATATATATATATATATATGGCAATATTGCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	110	0.0091	44	c.109 others(63): Show c.109+19650_109+19651insGGCAATATTGCTATATATATATATAT ATATATATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTA_chr9_36185921_36217059	36216327	A A	ATGTGTGT others(37): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	400	0.0025	44	c.45 others(55): Show c.4553_*4554insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	CLTA	ENSG00000122705.18	transcript	ENST00000345519.10	protein_coding		4269		chr9	TogoVar
CLUL1_chr18_591988_655182	627028	A A	AGAGAAAG others(37): Show AGAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	414	0.0024	44	c.424 others(57): Show c.424-69_424-68insGAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGA AAAGAAAAAGAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAA others(37): Show AGAAAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	414	0.0024	44	c.424 others(57): Show c.424-67_424-66insGAAAGAAAGAGAAAAGAAGAAAGAGAAAGAAA GAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGGAAGAG others(37): Show AGGAAGAGAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	414	0.0024	44	c.424 others(57): Show c.424-67_424-66insGGAAGAGAGAGAAAAGAAGAAAGAGAAAGAAA GAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CMTM8_chr3_32233680_32375321	32262978	T T	TAAAAACC others(37): Show TAAAAACCACAGAGCAGGGCAGTTCCAAAATAGCCGAATAGGAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	344	0.0029	44	c.147 others(63): Show c.147+23861_147+23904dupAAAACCACAGAGCAGGGCAGTTCCAA AATAGCCGAATAGGAACA	CMTM8	ENSG00000170293.9	transcript	ENST00000307526.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBD1_chr8_86861415_87387859	87136798	T T	TTTATATA others(37): Show TTTATATATAATATAAATATATTATTTATATTAAATATAAATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	152	0.0066	44	c.432 others(63): Show c.432-69194_432-69193insTATATATAATATAAATATATTATTTA TATTAAATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87136827	T T	TTTATATT others(37): Show TTTATATTAAATATAAATATATATATTTATATTATATATAAATTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG01243.hp1 HG02622.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0002 a0001c0001t0001 a0005c0007t0002	a0001c0001t0001g0019 a0005c0007t0002g0144 a0001c0001t0001g0019 a0005c0007t0002g0144	2	152	0.0132	44	c.432 others(63): Show c.432-69165_432-69164insTATATTAAATATAAATATATATATTT ATATTATATATAAATTAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNGA2_chrX_151729746_151750564	151742927	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp2 HG02055.hp1 HG02818.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0033 a0003c0003t0002g0033	2	336	0.0060	44	c.590 others(59): Show c.590-152_590-151insATATATATATATATATATATACATACATAC ATATATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0092 a0003c0003t0002g0092	1	336	0.0030	44	c.590 others(59): Show c.590-152_590-151insATATATATATATATATATATATATATACAT ACATATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742931	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0002 a0015c0019t0002	a0015c0019t0002g0113 a0015c0019t0002g0113	1	336	0.0030	44	c.590 others(59): Show c.590-152_590-151insATATATATATATATATATATATATATATAC ATACATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGB1_chr16_57877340_57976128	57879797	T T	TTCCCTCC others(37): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0023 a0008c0025t0023	a0008c0025t0023g0077 a0008c0025t0023g0077	1	360	0.0028	44	c.43 others(55): Show c.4366_*4367insGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2542		chr16	TogoVar
CNKSR2_chrX_21369418_21659689	21372502	T T	TATATACA others(37): Show TATATACACATATATACATATATACACATATATACATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG03471.hp1 HG02615.hp1 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0026 a0001c0003t0014 a0001c0003t0026	a0001c0003t0014g0147 a0001c0003t0014g0149 a0001c0003t0026g0148 a0001c0003t0014g0147 a0001c0003t0014g0149 a0001c0003t0026g0148	3	163	0.0184	44	c.-23 others(55): Show c.-2396_-2395insATATACACATATATACATATATACACATATATAC ATATATACAC	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding		1915		chrX	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(37): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG03041.hp2 HG03471.hp1 others(2): Show HG01978.hp1 HG03041.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0149 a0001c0002t0001g0006 a0001c0002t0001g0013 others(2): Show a0001c0001t0001g0149 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0031 a0001c0002t0001g0141	5	223	0.0224	44	c.-42 others(55): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(37): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02129.hp1 HG03471.hp2 others(3): Show HG00621.hp1 HG02129.hp1 HG03471.hp2 HG04228.hp1 NA18986.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0080 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0080 a0001c0001t0003g0103 a0001c0003t0001g0101 a0001c0009t0001g0104	6	223	0.0269	44	c.-42 others(55): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(37): Show GACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	328	0.0031	44	c.5+2 others(55): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNR2_chr1_23865515_23918362	23896881	G G	GTTTTTTT others(37): Show GTTTTTTTTTTTCCTTCTCAGTAGGTCCATCTGCACCAGGAGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0197 a0001c0001t0033g0197	1	268	0.0037	44	c.-46 others(63): Show c.-46+16364_-46+16365insACACTCCTGGTGCAGATGGACCTACT GAGAAGGAAAAAAAAAAA	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNTLN_chr9_17130040_17508923	17359744	A A	ACAAAAAA others(37): Show ACAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAACAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0028 a0028	a0028c0048 a0028c0048	a0028c0048t0007 a0028c0048t0007	a0028c0048t0007g0108 a0028c0048t0007g0108	1	218	0.0046	44	c.188 others(63): Show c.1887-6873_1887-6872insCAAAAAAAAAAAAAAAAAAACAAAAA AAAAAAAAACAAAAAAAG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25			chr9	TogoVar
CNTN1_chr12_40687439_41077415	41073888	C C	CGCATCTT others(37): Show CGCATCTTAAAGCACAACCGTGAAGTTAATCCTTTTTCATTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0053 a0001c0005t0002g0053	1	230	0.0044	44	c.38 others(55): Show c.3853_*3854insGCATCTTAAAGCACAACCGTGAAGTTAATCCTTT TTCATTCAGG	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding		1474		chr12	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(37): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0064 a0001c0004t0002g0064	1	116	0.0086	44	c.-89 others(61): Show c.-89+1478_-89+1479insTATATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(37): Show TATATATATATATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0044 a0001c0004t0006g0044	1	116	0.0086	44	c.-89 others(61): Show c.-89+1478_-89+1479insTATATATATATATATATATATATATAGA GAGAGAGAGAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	100090505	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02602.hp2 HG02132.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0053 a0001c0001t0016g0049 a0001c0001t0001g0053 a0001c0001t0016g0049	2	66	0.0303	44	c.158 others(65): Show c.1580+16234_1580+16235insCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100090525	C C	CCCTCCCT others(37): Show CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp2 HG02109.hp2 others(5): Show HG01123.hp1 HG01243.hp2 HG02109.hp2 HG02258.hp2 HG02886.hp2 HG02965.hp2 HG03041.hp2 HG03471.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0004c0004t0020 a0005c0005t0003	a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 others(5): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 a0001c0001t0004g0029 a0001c0001t0005g0014 a0001c0001t0010g0023 a0004c0004t0020g0024 a0005c0005t0003g0045	8	66	0.1212	44	c.158 others(65): Show c.1580+16234_1580+16235insCCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTTCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTNAP2_chr7_146111801_148425998	146232157	A A	ATTTAAAT others(37): Show ATTTAAATGGAATCATTTAAATCATTAAATGGAATCATTAAAGTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0035 a0001c0004t0003g0036	2	40	0.0500	44	c.97+ others(63): Show c.97+115185_97+115186insTTAAATGGAATCATTTAAATCATTAA ATGGAATCATTAAAGTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147176680	A A	AATATATA others(37): Show AATATATAATAGAATTATATATTATATATAATAGAATTATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02886.hp2 others(1): Show HG01891.hp1 HG02451.hp1 HG02886.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0001c0010 others(1): Show a0001c0002 a0001c0005 a0001c0010 a0004c0014	a0001c0002t0001 a0001c0005t0022 a0001c0010t0002 others(1): Show a0001c0002t0001 a0001c0005t0022 a0001c0010t0002 a0004c0014t0021	a0001c0002t0001g0007 a0001c0005t0022g0032 a0001c0010t0002g0014 others(1): Show a0001c0002t0001g0007 a0001c0005t0022g0032 a0001c0010t0002g0014 a0004c0014t0021g0022	4	40	0.1000	44	c.134 others(65): Show c.1348+44190_1348+44233dupTATTATATATAATAGAATTATATA TTATATATAATAGAATTATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147347461	T T	TATATATA others(37): Show TATATATATATGCATATATATATATATGCATATATATGTATATGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0026 a0001c0012t0004g0026	1	40	0.0250	44	c.149 others(65): Show c.1498+47181_1498+47182insGCATATATATATATATGCATATAT ATGTATATGCATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586543	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAAGAAGGAAGGAAGGGAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 NA19030.hp1 HG02886.hp2 HG03139.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0005t0022 a0001c0008t0001 a0001c0001t0001 a0001c0005t0022 a0001c0008t0001	a0001c0001t0001g0038 a0001c0005t0022g0032 a0001c0008t0001g0025 a0001c0001t0001g0038 a0001c0005t0022g0032 a0001c0008t0001g0025	3	40	0.0750	44	c.189 others(65): Show c.1897+24289_1897+24290insAAGGAAGGAAAGAAGGAAGGAAGG GAGGAAGGGAGGGAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586543	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG03098.hp1 HG02897.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0008 a0001c0001t0001g0003 a0001c0002t0001g0008	2	40	0.0500	44	c.189 others(65): Show c.1897+24289_1897+24290insAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGGAGGGAGG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147635184	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	44	c.189 others(63): Show c.1898-3905_1898-3904insATATATATATATATATATATATATAT ATATATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar

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Search Results (Total: 4475 hits)