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 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
CRLF2_chrX_1185490_1217649	1204150	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG01123.hp2 others(7): Show HG00099.hp2 HG00735.hp1 HG01123.hp2 HG01192.hp1 HG02056.hp2 HG02074.hp1 HG03704.hp2 HG03834.hp1 NA18999.hp2 NA19000.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0023	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0015 a0003c0014 a0012c0021 a0023c0046	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0002c0004t0001 a0002c0015t0001 a0003c0014t0001 a0012c0021t0001 a0023c0046t0001	a0001c0001t0001g0072 a0001c0002t0002g0031 a0001c0003t0001g0098 others(7): Show a0001c0001t0001g0072 a0001c0002t0002g0031 a0001c0003t0001g0098 a0001c0003t0001g0109 a0001c0003t0001g0124 a0002c0004t0001g0117 a0002c0015t0001g0099 a0003c0014t0001g0036 a0012c0021t0001g0053 a0023c0046t0001g0164	10	167	0.0599	22	c.350 others(39): Show c.350-1637_350-1616dupCACACACACACACACACACACA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	3/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1212969	T T	TCCCTCCC others(15): Show TCCCTCCCCCTTTTTCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0024 a0024	a0024c0019 a0024c0019	a0024c0019t0002 a0024c0019t0002	a0024c0019t0002g0003 a0024c0019t0002g0003	1	167	0.0060	22	c.-33 others(31): Show c.-336_-335insGAGGGGGGAAAAAGGGGGAGGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		321		chrX	TogoVar
CRLS1_chr20_6001123_6045053	6011572	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG03491.hp2 others(3): Show HG02258.hp2 HG02717.hp2 HG03491.hp2 HG03688.hp1 HG04184.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0035 a0001c0001t0001g0217 a0001c0001t0001g0286 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0217 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0006g0035 a0001c0001t0006g0285	6	366	0.0164	22	c.444 others(39): Show c.444+1673_444+1694dupTTTTTTTTTTTTTTTTTTTTTT	CRLS1	ENSG00000088766.12	transcript	ENST00000378863.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRMP1_chr4_5815764_5898086	5891175	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0305 a0001c0010t0001g0305	1	314	0.0032	22	c.381 others(39): Show c.381+1392_381+1413dupGTGTGTGTGTGTGTGTGTGTGT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	1/13			chr4	TogoVar
CRPPA_chr7_16082525_16426538	16116675	A A	AAGGAAAG others(15): Show AAGGAAAGGAAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00673.hp1 others(92): Show HG00408.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp2 HG03654.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0004c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(45): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0066 a0001c0001t0067 a0001c0001t0075 a0001c0001t0083 a0001c0001t0088 a0001c0001t0094 a0001c0003t0017 a0001c0003t0028 a0001c0003t0061 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0020 a0002c0002t0033 a0002c0002t0049 a0002c0002t0051 a0002c0002t0060 a0002c0002t0068 a0002c0002t0078 a0002c0002t0095 a0002c0002t0097 a0002c0004t0029 a0002c0004t0034 a0002c0004t0062 a0004c0006t0011	a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 others(92): Show a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0098 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0005g0096 a0001c0001t0005g0105 a0001c0001t0005g0169 a0001c0001t0005g0178 a0001c0001t0005g0185 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0192 a0001c0001t0007g0033 a0001c0001t0007g0069 a0001c0001t0007g0133 a0001c0001t0007g0154 a0001c0001t0009g0030 a0001c0001t0009g0084 a0001c0001t0009g0163 a0001c0001t0009g0165 a0001c0001t0011g0050 a0001c0001t0017g0010 a0001c0001t0017g0013 a0001c0001t0020g0051 a0001c0001t0020g0198 a0001c0001t0027g0031 a0001c0001t0027g0123 a0001c0001t0028g0011 a0001c0001t0029g0017 a0001c0001t0032g0028 a0001c0001t0032g0029 a0001c0001t0034g0066 a0001c0001t0035g0097 a0001c0001t0050g0081 a0001c0001t0052g0176 a0001c0001t0053g0186 a0001c0001t0054g0177 a0001c0001t0055g0184 a0001c0001t0056g0181 a0001c0001t0057g0048 a0001c0001t0059g0180 a0001c0001t0066g0196 a0001c0001t0067g0022 a0001c0001t0075g0191 a0001c0001t0083g0200 a0001c0001t0088g0160 a0001c0001t0094g0148 a0001c0003t0017g0205 a0001c0003t0028g0207 a0001c0003t0061g0204 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0259 a0002c0002t0002g0262 a0002c0002t0002g0275 a0002c0002t0005g0263 a0002c0002t0007g0234 a0002c0002t0007g0254 a0002c0002t0009g0225 a0002c0002t0010g0279 a0002c0002t0020g0223 a0002c0002t0033g0220 a0002c0002t0033g0271 a0002c0002t0049g0219 a0002c0002t0051g0276 a0002c0002t0060g0270 a0002c0002t0068g0256 a0002c0002t0078g0228 a0002c0002t0095g0261 a0002c0002t0097g0216 a0002c0004t0029g0283 a0002c0004t0034g0285 a0002c0004t0062g0284 a0004c0006t0011g0288 a0004c0006t0011g0289 a0004c0006t0011g0290	95	290	0.3276	22	c.125 others(43): Show c.1252-24877_1252-24876insCTTCCCTTCCCTTTCCTTTCCT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	9/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16209273	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01071.hp1 others(7): Show HG00280.hp2 HG00733.hp1 HG01071.hp1 HG01109.hp2 HG02293.hp2 HG02615.hp2 HG03492.hp2 HG03688.hp2 HG04204.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0010 a0001c0001t0074 others(5): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0074 a0001c0001t0102 a0002c0002t0004 a0002c0002t0010 a0002c0002t0021 a0002c0002t0064	a0001c0001t0004g0007 a0001c0001t0004g0107 a0001c0001t0010g0106 others(7): Show a0001c0001t0004g0007 a0001c0001t0004g0107 a0001c0001t0010g0106 a0001c0001t0074g0171 a0001c0001t0102g0114 a0002c0002t0004g0245 a0002c0002t0004g0277 a0002c0002t0010g0279 a0002c0002t0021g0235 a0002c0002t0064g0238	10	290	0.0345	22	c.125 others(41): Show c.1251+6792_1251+6793insAAAAAAAAAAAAAAAAAAAAAA	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	9/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16236950	G G	GCACACAC others(15): Show GCACACACACACACGCACACACA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0254 a0002c0002t0007g0254	1	290	0.0035	22	c.112 others(43): Show c.1120-20754_1120-20753insTGTGTGTGCGTGTGTGTGTGTG	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	8/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16286097	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0270 a0002c0002t0060g0270	1	290	0.0035	22	c.836 others(39): Show c.836-7872_836-7871insATATATATATATATATATTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	5/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16303477	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG03491.hp1 others(9): Show HG00621.hp2 HG00673.hp1 HG03491.hp1 HG03492.hp1 HG04204.hp1 HG04204.hp2 NA18971.hp1 NA18998.hp1 NA19001.hp2 NA19064.hp1 NA19081.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(7): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0032 a0001c0001t0035 a0001c0001t0077 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0033	a0001c0001t0002g0025 a0001c0001t0002g0098 a0001c0001t0009g0165 others(9): Show a0001c0001t0002g0025 a0001c0001t0002g0098 a0001c0001t0009g0165 a0001c0001t0010g0106 a0001c0001t0032g0029 a0001c0001t0035g0097 a0001c0001t0077g0027 a0002c0002t0002g0259 a0002c0002t0003g0274 a0002c0002t0003g0278 a0002c0002t0005g0263 a0002c0002t0033g0271	12	290	0.0414	22	c.790 others(39): Show c.790-2033_790-2012dupTTTTTTTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	4/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0202 a0001c0001t0019g0202	1	290	0.0035	22	c.535 others(41): Show c.535-13688_535-13687insATATTTTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0023 a0001c0001t0026g0023	1	290	0.0035	22	c.535 others(41): Show c.535-13688_535-13687insATATATATTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRTC1_chr19_18678680_18787333	18689564	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01884.hp2 others(7): Show HG01069.hp2 HG01071.hp1 HG01884.hp2 HG01891.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp2 HG02630.hp2 NA19083.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0001t0022 a0001c0001t0027 a0001c0001t0031	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0142 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0252 a0001c0001t0008g0245 a0001c0001t0015g0005 a0001c0001t0022g0152 a0001c0001t0027g0004 a0001c0001t0031g0251	10	274	0.0365	22	c.126 others(39): Show c.126+5737_126+5758dupATATATATATATATATATATAT	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(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02809.hp2 others(5): Show HG02145.hp2 HG02451.hp2 HG02809.hp2 HG03688.hp2 HG03834.hp2 NA18522.hp2 NA19240.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0001g0099 a0001c0001t0001g0233 a0001c0001t0002g0058 a0001c0001t0007g0057	8	274	0.0292	22	c.126 others(39): Show c.126+5758_126+5759insATATATATATATATATATGTAT	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(15): Show ATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp2 HG03130.hp2 HG01081.hp2 HG02257.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0016 a0002c0002t0003 a0002c0002t0016	a0002c0002t0003g0214 a0002c0002t0003g0226 a0002c0002t0016g0060 a0002c0002t0003g0214 a0002c0002t0003g0226 a0002c0002t0016g0060	3	274	0.0110	22	c.126 others(39): Show c.126+5758_126+5759insATATATATATATATGTATGTAT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18724226	T T	TGTGGGGT others(15): Show TGTGGGGTGGGGTGTGTGGGTGC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	274	0.0037	22	c.127 others(41): Show c.127-18675_127-18654dupGGGTGTGTGGGTGCGTGGGGTG	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(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp2 NA18985.hp1 others(2): Show HG02602.hp1 HG02683.hp2 NA18985.hp1 NA19004.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0100 others(2): Show a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0229	5	274	0.0183	22	c.127 others(41): Show c.127-14080_127-14079insTTTTTTTTTTTTTTTTTTTTTT	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(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG02165.hp2 others(2): Show HG01069.hp2 HG01074.hp2 HG02165.hp2 HG02630.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0001 a0001c0001t0009 a0001c0001t0015	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0097 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0097 a0001c0001t0009g0244 a0001c0001t0015g0005	5	274	0.0183	22	c.93 others(33): Show c.9381_*9382insTTTTTTTTTTTTTTTTTTTTTT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding		4431		chr19	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGCA others(15): Show TGTGTGCACGCGCGTGCGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01978.hp1 HG02080.hp2 others(6): Show HG00642.hp2 HG01978.hp1 HG02080.hp2 HG02258.hp1 HG02615.hp1 HG03579.hp1 NA19062.hp1 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0042 a0001c0001t0072	a0001c0001t0001g0033 a0001c0001t0003g0219 a0001c0001t0011g0069 others(6): Show a0001c0001t0001g0033 a0001c0001t0003g0219 a0001c0001t0011g0069 a0001c0001t0014g0134 a0001c0001t0021g0088 a0001c0001t0021g0146 a0001c0001t0021g0147 a0001c0001t0042g0027 a0001c0001t0072g0028	9	344	0.0262	22	c.-19 others(33): Show c.-1912_-1911insGTGTGCACGCGCGTGCGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRY2_chr11_45842475_45888244	45844931	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	368	0.0027	22	c.-25 others(33): Show c.-2560_-2559insAAAAAAAAAAAAAAAAAAAAAA	CRY2	ENSG00000121671.12	transcript	ENST00000616080.2	protein_coding		2543		chr11	TogoVar
CRYBG1_chr6_106355717_106577017	106422344	A A	ATTTATTT others(15): Show ATTTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0032 a0032	a0032c0045 a0032c0045	a0032c0045t0004 a0032c0045t0004	a0032c0045t0004g0068 a0032c0045t0004g0068	1	272	0.0037	22	c.174 others(41): Show c.174-29347_174-29346insATTTTTTTTTTTTTTTTTTTTT	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(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19063.hp2 NA18612.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0067 a0001c0001 a0001c0067	a0001c0001t0001 a0001c0067t0001 a0001c0001t0001 a0001c0067t0001	a0001c0001t0001g0127 a0001c0067t0001g0015 a0001c0001t0001g0127 a0001c0067t0001g0015	2	272	0.0074	22	c.174 others(39): Show c.174-4142_174-4121dupATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG3_chr3_97817011_97949984	97946586	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02970.hp1 others(2): Show HG02451.hp2 HG02486.hp1 HG02970.hp1 HG03130.hp2 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0027 a0004c0005t0001g0162 a0004c0005t0001g0163 others(2): Show a0004c0005t0001g0027 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165	5	316	0.0158	22	c.32 others(33): Show c.3272_*3273insTATATATATATATATATATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTCT others(15): Show CTTCTTCTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	452	0.0022	22	c.17 others(33): Show c.1757_*1758insAAAAAAAAAAAAAAAAGAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(15): Show CTTCTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01358.hp1 HG02145.hp1 others(8): Show HG01167.hp1 HG01358.hp1 HG02145.hp1 HG02717.hp2 HG04184.hp2 NA18951.hp1 NA18963.hp2 NA18987.hp1 NA18988.hp1 NA19060.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0116 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0004g0009 a0001c0003t0001g0007	11	452	0.0243	22	c.17 others(33): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20466682	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02809.hp2 HG01891.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0069 a0001c0002t0001g0092 a0001c0001t0002g0069 a0001c0002t0001g0092	2	250	0.0080	22	c.276 others(41): Show c.276+22666_276+22687dupCACACACACACACACACACACA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20481991	T T	TGGCCATC others(15): Show TGGCCATCCCATGTGTCCAATGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	250	0.0040	22	c.276 others(39): Show c.276+7357_276+7378dupGCATTGGACACATGGGATGGCC	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01070.hp2 others(69): Show HG00621.hp2 HG00735.hp1 HG01070.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp2 HG01934.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03942.hp1 HG04184.hp1 NA18906.hp1 NA18942.hp1 NA18948.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp2 NA18973.hp1 NA18978.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp2 NA19004.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 others(68): Show a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0168 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0004g0082	72	360	0.2000	22	c.332 others(39): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSAD_chr12_53152663_53185925	53184114	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA18942.hp2 HG02083.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	22	c.-34 others(33): Show c.-3495_-3474dupACACACACACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3190		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGCGCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	334	0.0030	22	c.-35 others(33): Show c.-3510_-3509insGCGCGCGCGCACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp2 HG01123.hp2 others(13): Show HG00280.hp1 HG00733.hp2 HG01123.hp2 HG01256.hp1 HG02109.hp2 HG02155.hp1 HG02451.hp2 HG02647.hp1 HG02886.hp1 HG03516.hp2 NA18967.hp1 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA19001.hp2 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0001c0001t0001 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0036 a0001c0001t0001g0088 a0001c0001t0001g0090 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0002c0002t0002g0023 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0064 a0002c0002t0002g0067 a0003c0003t0003g0019	16	318	0.0503	22	c.17- others(37): Show c.17-1769_17-1768insTATATATATATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA19088.hp1 HG00733.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	2	318	0.0063	22	c.17- others(37): Show c.17-1786_17-1785insGTATATATATATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709605	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01175.hp2 HG01071.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	211	0.0095	22	c.-51 others(31): Show c.-515_-494dupCTCTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		333		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709625	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	211	0.0047	22	c.-51 others(31): Show c.-514_-513insTTCTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		353		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709629	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	211	0.0047	22	c.-51 others(31): Show c.-518_-517insTTCTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		357		chrX	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(15): Show GACACACAGACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0010 a0001c0001t0047g0010	1	288	0.0035	22	c.-25 others(31): Show c.-255_-254insGACACACACACACACACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10913	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSE1L_chr20_49041312_49101949	49065312	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	386	0.0026	22	c.229 others(37): Show c.229-880_229-879insTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24			chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18956.hp1 NA18979.hp2 others(2): Show HG01109.hp1 NA18956.hp1 NA18979.hp2 NA18985.hp1 NA18989.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0004 a0001c0001 a0006c0004	a0001c0001t0002 a0001c0001t0007 a0006c0004t0002 a0001c0001t0002 a0001c0001t0007 a0006c0004t0002	a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0002g0087 others(2): Show a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0002g0087 a0001c0001t0007g0017 a0006c0004t0002g0046	5	386	0.0130	22	c.229 others(37): Show c.229-873_229-852dupTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1R_chr5_150048295_150091554	150084400	A A	AAAGAAAG others(15): Show AAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0219 a0001c0004t0003g0219	1	406	0.0025	22	c.49+ others(37): Show c.49+1978_49+1979insCTTCTTTCTTTCTTTCTTTCTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150085277	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0363 a0002c0003t0001g0363	1	406	0.0025	22	c.49+ others(37): Show c.49+1101_49+1102insTTTTTTTTTTTTTTTTTTTTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01099.hp1 others(13): Show HG00140.hp2 HG00738.hp1 HG01099.hp1 HG01884.hp1 HG01975.hp1 HG02015.hp2 HG02056.hp1 HG02258.hp1 HG02300.hp2 HG03017.hp1 HG04199.hp2 NA18959.hp2 NA19054.hp2 NA19057.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0004c0009 a0005c0011 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0002t0002 a0001c0002t0004 a0002c0003t0003 a0002c0003t0005 a0002c0003t0008 a0002c0003t0009 a0002c0003t0011 a0002c0003t0015 a0004c0009t0003 a0005c0011t0003 a0008c0016t0009	a0001c0001t0001g0131 a0001c0001t0002g0059 a0001c0001t0017g0165 others(13): Show a0001c0001t0001g0131 a0001c0001t0002g0059 a0001c0001t0017g0165 a0001c0002t0002g0084 a0001c0002t0004g0158 a0002c0003t0003g0105 a0002c0003t0005g0093 a0002c0003t0008g0087 a0002c0003t0009g0072 a0002c0003t0011g0034 a0002c0003t0015g0042 a0004c0009t0003g0107 a0004c0009t0003g0215 a0005c0011t0003g0180 a0005c0011t0003g0181 a0008c0016t0009g0161	16	238	0.0672	22	c.122 others(39): Show c.1228-277_1228-256dupGTGTGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513432	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0006 a0013c0014t0006	a0013c0014t0006g0230 a0013c0014t0006g0230	1	238	0.0042	22	c.-29 others(41): Show c.-296-7303_-296-7302insTATATATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTATAT others(15): Show CTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	238	0.0042	22	c.-29 others(41): Show c.-296-7307_-296-7306insTATATATATATATATATATAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0130	1	238	0.0042	22	c.-29 others(41): Show c.-296-7307_-296-7306insTATATATATATAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0078 a0002c0003t0020g0078	1	238	0.0042	22	c.-29 others(41): Show c.-296-8367_-296-8346dupTATATATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	238	0.0042	22	c.-29 others(43): Show c.-296-35445_-296-35424dupAAAAAAAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG02015.hp2 others(10): Show HG00438.hp1 HG01243.hp2 HG02015.hp2 HG02145.hp2 HG02451.hp2 HG02622.hp1 HG02897.hp1 HG02965.hp1 HG03209.hp1 HG03471.hp1 HG04199.hp2 NA18959.hp1 NA19054.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0009	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 others(8): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0012 a0001c0002t0016 a0001c0002t0047 a0001c0002t0048 a0002c0003t0005 a0002c0003t0007 a0002c0004t0005 a0004c0009t0003	a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0002t0002g0084 others(10): Show a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0002t0002g0084 a0001c0002t0006g0017 a0001c0002t0012g0175 a0001c0002t0016g0162 a0001c0002t0047g0197 a0001c0002t0048g0238 a0002c0003t0005g0052 a0002c0003t0007g0051 a0002c0004t0005g0015 a0004c0009t0003g0107 a0004c0009t0003g0215	13	238	0.0546	22	c.-29 others(43): Show c.-296-47491_-296-47490insATATATATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01884.hp1 others(1): Show HG01099.hp1 HG01106.hp1 HG01884.hp1 NA19030.hp2	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0003 a0005c0011 a0012c0021 a0002c0003 a0005c0011 a0012c0021	a0002c0003t0005 a0002c0003t0011 a0005c0011t0003 others(1): Show a0002c0003t0005 a0002c0003t0011 a0005c0011t0003 a0012c0021t0040	a0002c0003t0005g0093 a0002c0003t0011g0188 a0005c0011t0003g0180 others(1): Show a0002c0003t0005g0093 a0002c0003t0011g0188 a0005c0011t0003g0180 a0012c0021t0040g0178	4	238	0.0168	22	c.-29 others(43): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAAAGAAA others(15): Show AAAAGAAAGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02647.hp2 HG03225.hp1 others(2): Show HG01361.hp1 HG02647.hp2 HG03225.hp1 NA18966.hp1 NA18984.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0010c0018	a0001c0001t0010 a0001c0002t0005 a0001c0002t0006 others(2): Show a0001c0001t0010 a0001c0002t0005 a0001c0002t0006 a0002c0008t0003 a0010c0018t0003	a0001c0001t0010g0150 a0001c0002t0005g0172 a0001c0002t0006g0047 others(2): Show a0001c0001t0010g0150 a0001c0002t0005g0172 a0001c0002t0006g0047 a0002c0008t0003g0155 a0010c0018t0003g0039	5	238	0.0210	22	c.-29 others(41): Show c.-297+2298_-297+2299insCTTTCTTTCTTTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18978.hp2 NA18972.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	22	c.-16 others(33): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	22	c.-16 others(33): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar

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