Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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Samplehapid

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No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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(23): Show ATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0224 a0002c0002t0003g0224	1	274	0.0037	30	c.126 others(47): Show c.126+5758_126+5759insATATATATATATATATATATATGTATGT AT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC3_chr15_90524923_90650345	90630756	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0198	1	276	0.0036	30	c.126 others(49): Show c.1266+1227_1266+1256dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(23): Show TGTGTGTGTGCGCGCACGCGCGTGCGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18522.hp2 HG02055.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0017 a0002c0002t0009g0188 a0002c0002t0009g0017 a0002c0002t0009g0188	2	344	0.0058	30	c.-19 others(41): Show c.-1912_-1911insGTGTGTGTGCGCGCACGCGCGTGCGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGCGCACGCGCGTGCGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18964.hp2 NA18983.hp1 others(1): Show NA18951.hp1 NA18964.hp2 NA18983.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0066 a0001c0001t0073 a0001c0001t0002 a0001c0001t0066 a0001c0001t0073	a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0066g0022 others(1): Show a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0066g0022 a0001c0001t0073g0022	4	344	0.0116	30	c.-19 others(41): Show c.-1912_-1911insGTGTGTGTGTGCGCACGCGCGTGCGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGCACGCGCGTGCGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	344	0.0029	30	c.-19 others(41): Show c.-1912_-1911insGTGTGTGTGTGTGCACGCGCGTGCGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRY1_chr12_106986364_107098549	107009563	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0184 a0001c0002t0003g0184	1	320	0.0031	30	c.268 others(47): Show c.268-4345_268-4316dupATATATATATATATATATATATATATAT AT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	2/12			chr12	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCCCTCC others(23): Show CCCCCTCCCTCCCTCCCCTCCCTCCCTCCTT	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	402	0.0025	30	c.301 others(45): Show c.301-928_301-927insCCCTCCCTCCCTCCCCTCCCTCCCTCCTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627360	C C	CCTCCCTC others(23): Show CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	402	0.0025	30	c.301 others(45): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5			chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02886.hp1 HG02976.hp2 HG02523.hp1 HG02886.hp1 HG02976.hp2	a0006 a0013 a0006 a0013	a0006c0005 a0013c0016 a0006c0005 a0013c0016	a0006c0005t0004 a0013c0016t0001 a0006c0005t0004 a0013c0016t0001	a0006c0005t0004g0147 a0013c0016t0001g0136 a0013c0016t0001g0174 a0006c0005t0004g0147 a0013c0016t0001g0136 a0013c0016t0001g0174	3	272	0.0110	30	c.173 others(49): Show c.173+16567_173+16568insATATATATATATATATATATATATAT ATAT	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(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0157 a0006c0008t0001g0157	1	316	0.0032	30	c.32 others(41): Show c.3272_*3273insTATATATATATATATATATATATATATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(23): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02698.hp1 others(3): Show HG02258.hp2 HG02486.hp2 HG02698.hp1 HG02735.hp2 NA19064.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0103 a0001c0002t0001g0002 a0001c0003t0001g0030 a0001c0001t0001g0103 a0001c0002t0001g0002 a0001c0003t0001g0030	6	452	0.0133	30	c.17 others(41): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20462057	G G	GGCCTGGT others(23): Show GGCCTGGTGGGAGGGATGGGGTGGGAGGACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(233): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0002c0007t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(232): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0021 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0004g0109 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0072 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0135 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0171 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0222 a0001c0002t0001g0239 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0036 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0084 a0001c0002t0002g0098 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0131 a0001c0002t0002g0157 a0001c0002t0002g0160 a0001c0002t0002g0176 a0001c0002t0002g0180 a0001c0002t0002g0203 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0220 a0001c0002t0002g0231 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0012 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0002g0003 a0001c0003t0002g0010 a0001c0003t0002g0011 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0004t0001g0032 a0001c0004t0001g0043 a0001c0004t0002g0025 a0001c0004t0002g0042 a0001c0005t0001g0079 a0001c0005t0001g0081 a0001c0006t0001g0080 a0002c0007t0001g0150	236	250	0.9440	30	c.277 others(49): Show c.277-22304_277-22303insTGTCCTCCCACCCCATCCCTCCCACC AGGC	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20485685	T T	TAGAAAAG others(23): Show TAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG03471.hp2 others(5): Show HG02280.hp1 HG02559.hp2 HG03471.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0099 others(5): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0002g0094 a0001c0001t0005g0246 a0001c0002t0001g0082 a0001c0002t0001g0127 a0001c0002t0002g0203	8	250	0.0320	30	c.276 others(47): Show c.276+3684_276+3685insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp2 HG01981.hp1 others(14): Show HG00323.hp2 HG01167.hp2 HG01981.hp1 HG02071.hp2 HG02735.hp2 HG03654.hp1 HG03942.hp2 NA18942.hp2 NA18974.hp2 NA18986.hp1 NA18992.hp2 NA19006.hp2 NA19054.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0336 a0001c0001t0003g0014	17	360	0.0472	30	c.332 others(47): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03195.hp2 HG03471.hp1 others(5): Show HG01346.hp2 HG03195.hp2 HG03471.hp1 HG03831.hp1 NA18963.hp2 NA18966.hp1 NA18975.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0013 a0002c0002t0002g0038 a0002c0002t0002g0057 others(1): Show a0002c0002t0002g0013 a0002c0002t0002g0038 a0002c0002t0002g0057 a0002c0002t0002g0059	8	318	0.0252	30	c.17- others(45): Show c.17-1786_17-1785insGTATATATATATATATATATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709629	G G	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	211	0.0047	30	c.-51 others(39): Show c.-518_-517insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		357		chrX	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0370 a0001c0002t0001g0370	1	386	0.0026	30	c.-12 others(47): Show c.-12+1169_-12+1170insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	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(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03942.hp2 NA18991.hp2 HG01123.hp2 HG03942.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0064 a0001c0001t0002g0086 a0001c0001t0002g0044 a0001c0001t0002g0064 a0001c0001t0002g0086	3	386	0.0078	30	c.229 others(45): Show c.229-852_229-851insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF2RA_chrX_1263814_1314935	1280976	G G	GCTTCTCC others(23): Show GCTTCTCCTCCTCCTCCTTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0156 a0002c0006t0003g0156	1	159	0.0063	30	c.-26 others(47): Show c.-26-1673_-26-1672insTCTTCTCCTCCTCCTCCTTCTCCTCCTC CT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	238	0.0042	30	c.-29 others(51): Show c.-296-35424_-296-35423insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02698.hp2 HG03516.hp1 HG02486.hp2 HG02698.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0004 a0001c0002t0002 a0002c0003t0004	a0001c0002t0002g0132 a0002c0003t0004g0006 a0002c0003t0004g0014 a0001c0002t0002g0132 a0002c0003t0004g0006 a0002c0003t0004g0014	3	238	0.0126	30	c.-29 others(51): Show c.-296-47491_-296-47490insATATATATATATATATATATATAT ATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898112	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA19083.hp2 HG04204.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	30	c.-16 others(41): Show c.-1602_-1601insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1539		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	30	c.-16 others(41): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01175.hp1 HG01258.hp1 others(4): Show HG00609.hp2 HG01175.hp1 HG01258.hp1 HG02132.hp1 NA18522.hp1 NA18980.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0001 a0004c0004t0001g0004 a0001c0001t0001g0001 a0004c0004t0001g0004	7	428	0.0164	30	c.-16 others(41): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA19088.hp1 NA18612.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	30	c.-16 others(41): Show c.-1646_-1645insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1583		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898160	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 NA18944.hp2 NA21309.hp2 HG04204.hp1 NA18944.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0004c0004t0001 a0001c0001t0001 a0001c0001t0004 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0004g0017 a0004c0004t0001g0004 a0001c0001t0001g0001 a0001c0001t0004g0017 a0004c0004t0001g0004	3	428	0.0070	30	c.-16 others(41): Show c.-1650_-1649insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1587		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898164	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	30	c.-16 others(41): Show c.-1654_-1653insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1591		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18522.hp1 HG03927.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0004 a0001c0001t0001 a0003c0007t0004	a0001c0001t0001g0078 a0003c0007t0004g0141 a0001c0001t0001g0078 a0003c0007t0004g0141	2	394	0.0051	30	c.-66 others(47): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTGTGTGTGTGTGTGT GT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01099.hp1 others(3): Show HG00438.hp1 HG00738.hp2 HG01099.hp1 HG01358.hp2 HG03710.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0084 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0154	6	394	0.0152	30	c.-66 others(47): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTGTGTGTGTGTGT GT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01071.hp2 others(17): Show HG00558.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG02080.hp1 HG02129.hp1 HG02523.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18960.hp2 NA18968.hp1 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA19063.hp2 NA19072.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0003t0001 a0001c0001t0001 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0088 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0010g0037 a0001c0003t0001g0089	20	394	0.0508	30	c.-66 others(47): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTTGTGTGTGTGT GT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18946.hp2 NA18963.hp2 others(2): Show HG03831.hp2 NA18946.hp2 NA18963.hp2 NA18970.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0097	5	394	0.0127	30	c.-66 others(47): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTTTTTGTGTGTGT GT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(23): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03139.hp2 HG06807.hp2 others(2): Show HG01081.hp2 HG03139.hp2 HG06807.hp2 NA18979.hp1 NA18983.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0033 a0001c0061 a0001c0068 others(2): Show a0001c0033 a0001c0061 a0001c0068 a0002c0036 a0005c0107	a0001c0033t0003 a0001c0061t0001 a0001c0068t0015 others(2): Show a0001c0033t0003 a0001c0061t0001 a0001c0068t0015 a0002c0036t0029 a0005c0107t0068	a0001c0033t0003g0059 a0001c0061t0001g0021 a0001c0068t0015g0049 others(2): Show a0001c0033t0003g0059 a0001c0061t0001g0021 a0001c0068t0015g0049 a0002c0036t0029g0009 a0005c0107t0068g0073	5	126	0.0397	30	c.562 others(49): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0069 a0001c0071t0069	a0001c0071t0069g0115 a0001c0071t0069g0115	1	126	0.0079	30	c.562 others(49): Show c.5621-1657_5621-1628dupACACACACACACACACACACACACAC ACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411986	A A	ATATGTAT others(23): Show ATATGTATACGTGTATATACACGTATATATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01934.hp1 HG01123.hp2 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0019 a0001c0003t0008 a0001c0003t0019	a0001c0003t0008g0053 a0001c0003t0019g0107 a0001c0003t0008g0053 a0001c0003t0019g0107	2	126	0.0159	30	c.156 others(49): Show c.1562-2382_1562-2381insCATATATACGTGTATATACACGTATA CATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3412081	T T	TATATATA others(23): Show TATATATACACACGTATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0028 a0028	a0028c0097 a0028c0097	a0028c0097t0018 a0028c0097t0018	a0028c0097t0018g0089 a0028c0097t0018g0089	1	126	0.0079	30	c.156 others(49): Show c.1562-2506_1562-2477dupGTATATATGTATATATACGTGTGTAT ATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439281	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	126	0.0079	30	c.156 others(51): Show c.1561+29430_1561+29431insTATATATATATATATATATATATA TATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439281	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0022 a0002c0053t0022	a0002c0053t0022g0041 a0002c0053t0022g0041	1	126	0.0079	30	c.156 others(51): Show c.1561+29430_1561+29431insTATATATATATATATATATATATA TACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3520020	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0079 a0002c0054t0079	a0002c0054t0079g0096 a0002c0054t0079g0096	1	126	0.0079	30	c.134 others(51): Show c.1345-26295_1345-26294insTATATATATATATATATATATATA TATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671481	A A	AATCATAT others(23): Show AATCATATATATGATCATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0010 a0010	a0010c0112 a0010c0112	a0010c0112t0081 a0010c0112t0081	a0010c0112t0081g0090 a0010c0112t0081g0090	1	126	0.0079	30	c.100 others(51): Show c.1009+36932_1009+36933insCATATATATATATATGATCATATA TATGAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0013 a0002c0048t0013	a0002c0048t0013g0015 a0002c0048t0013g0015	1	126	0.0079	30	c.932 others(47): Show c.932-1190_932-1189insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18995.hp2 HG02055.hp2 NA18995.hp2	a0003 a0039 a0003 a0039	a0003c0057 a0039c0009 a0003c0057 a0039c0009	a0003c0057t0080 a0039c0009t0001 a0003c0057t0080 a0039c0009t0001	a0003c0057t0080g0075 a0039c0009t0001g0002 a0003c0057t0080g0075 a0039c0009t0001g0002	2	126	0.0159	30	c.818 others(51): Show c.818+104563_818+104564insTATATATATATATATATATATATA TATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3893339	T T	TTATATAT others(23): Show TTATATATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01934.hp2 others(5): Show HG00438.hp2 HG01255.hp1 HG01934.hp2 HG02074.hp2 HG02129.hp2 NA18982.hp2 NA18984.hp2 NA18995.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0005 a0001c0007 others(5): Show a0001c0003 a0001c0005 a0001c0007 a0001c0081 a0001c0109 a0002c0031 a0002c0091 a0004c0099	a0001c0003t0013 a0001c0005t0002 a0001c0007t0032 others(5): Show a0001c0003t0013 a0001c0005t0002 a0001c0007t0032 a0001c0081t0037 a0001c0109t0038 a0002c0031t0015 a0002c0091t0002 a0004c0099t0014	a0001c0003t0013g0026 a0001c0005t0002g0111 a0001c0007t0032g0033 others(5): Show a0001c0003t0013g0026 a0001c0005t0002g0111 a0001c0007t0032g0033 a0001c0081t0037g0030 a0001c0109t0038g0013 a0002c0031t0015g0001 a0002c0091t0002g0114 a0004c0099t0014g0020	8	126	0.0635	30	c.818 others(51): Show c.818+104563_818+104564insTATATATATATATATATATATACA TATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926108	C C	CCATACAC others(23): Show CCATACACACACACACACACACAAACACCAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18983.hp1 NA19060.hp1 HG01074.hp2 NA18983.hp1 NA19060.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0001c0061 a0004c0056 a0001c0007 a0001c0061 a0004c0056	a0001c0007t0001 a0001c0061t0001 a0004c0056t0062 a0001c0007t0001 a0001c0061t0001 a0004c0056t0062	a0001c0007t0001g0035 a0001c0061t0001g0021 a0004c0056t0062g0072 a0001c0007t0001g0035 a0001c0061t0001g0021 a0004c0056t0062g0072	3	126	0.0238	30	c.818 others(49): Show c.818+71794_818+71795insATGGTGTTTGTGTGTGTGTGTGTGTG TATG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4077307	A A	ATATATAT others(23): Show ATATATATATGTATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG03195.hp1 others(2): Show HG02615.hp1 HG02647.hp2 HG03195.hp1 HG03669.hp2 HG04204.hp2	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0001 a0002c0054 a0002c0084 others(1): Show a0001c0001 a0002c0054 a0002c0084 a0026c0082	a0001c0001t0002 a0001c0001t0039 a0002c0054t0079 others(2): Show a0001c0001t0002 a0001c0001t0039 a0002c0054t0079 a0002c0084t0018 a0026c0082t0052	a0001c0001t0002g0102 a0001c0001t0039g0017 a0002c0054t0079g0096 others(2): Show a0001c0001t0002g0102 a0001c0001t0039g0017 a0002c0054t0079g0096 a0002c0084t0018g0087 a0026c0082t0052g0097	5	126	0.0397	30	c.416 others(49): Show c.416-45209_416-45208insCACATATATATATATATATACATATA TATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4717310	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0072 a0001c0079t0072	a0001c0079t0072g0113 a0001c0079t0072g0113	1	126	0.0079	30	c.86- others(47): Show c.86-79753_86-79752insATATATATATATATATATATATATATAT AT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112370023	G G	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0004 a0002c0010t0006 a0001c0001t0004 a0002c0010t0006	a0001c0001t0004g0007 a0002c0010t0006g0064 a0001c0001t0004g0007 a0002c0010t0006g0064	2	80	0.0250	30	c.613 others(51): Show c.6136+10299_6136+10328dupTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405220	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	80	0.0125	30	c.580 others(49): Show c.5809+1303_5809+1304insGTATATATATATATATATATATATAT ATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542634	A A	ATACATGT others(23): Show ATACATGTATGTGTATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0342	1	390	0.0026	30	c.230 others(47): Show c.230+7440_230+7441insCACATATATATATATATACACATACATG TA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542638	A A	ATACATGT others(23): Show ATACATGTATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19009.hp1 NA19054.hp1 HG00621.hp2 NA19009.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0367 a0001c0001t0002g0371 a0001c0001t0002g0376 a0001c0001t0002g0367 a0001c0001t0002g0371 a0001c0001t0002g0376	3	390	0.0077	30	c.230 others(47): Show c.230+7436_230+7437insCATATATATATATATATATACATACATG TA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149544758	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	390	0.0026	30	c.230 others(47): Show c.230+5316_230+5317insGTGTGTGTATATATATATATATATATAT AT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar

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