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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Select column to sort.

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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
CRYBB2_chr22_25214639_25236869	25226168	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	464	0.0022	-14	c.173 others(31): Show c.173+1158_173+1171delGTGTGTGTGTGTGT	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106358171	TTTTATAT others(7): Show TTTTATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0024 a0006c0005t0004g0024	1	272	0.0037	-14	c.-27 others(25): Show c.-2737_-2724delTTTATATATATATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding		2545		chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106358207	ATATATAT others(7): Show ATATATATATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01074.hp2 NA18747.hp1 HG00735.hp1 HG01074.hp2 NA18747.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0057 a0001c0001 a0002c0003 a0004c0057	a0001c0001t0001 a0002c0003t0006 a0004c0057t0002 a0001c0001t0001 a0002c0003t0006 a0004c0057t0002	a0001c0001t0001g0143 a0002c0003t0006g0060 a0004c0057t0002g0171 a0001c0001t0001g0143 a0002c0003t0006g0060 a0004c0057t0002g0171	3	272	0.0110	-14	c.-27 others(25): Show c.-2701_-2688delTATATATATATATG	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding		2509		chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106391928	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	272	0.0037	-14	c.173 others(33): Show c.173+30877_173+30890delTGTGTGTGTGTGTG	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106391958	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02683.hp2 HG02886.hp1 others(6): Show HG02615.hp2 HG02683.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 NA18969.hp2 NA19030.hp1 NA19057.hp2 NA20129.hp1	a0001 a0003 a0013 others(3): Show a0001 a0003 a0013 a0018 a0045 a0052	a0001c0001 a0001c0022 a0003c0002 others(4): Show a0001c0001 a0001c0022 a0003c0002 a0013c0016 a0018c0037 a0045c0053 a0052c0030	a0001c0001t0001 a0001c0001t0006 a0001c0022t0002 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0022t0002 a0003c0002t0005 a0013c0016t0001 a0018c0037t0001 a0045c0053t0003 a0052c0030t0003	a0001c0001t0001g0207 a0001c0001t0001g0258 a0001c0001t0006g0055 others(6): Show a0001c0001t0001g0207 a0001c0001t0001g0258 a0001c0001t0006g0055 a0001c0022t0002g0212 a0003c0002t0005g0154 a0013c0016t0001g0136 a0018c0037t0001g0253 a0045c0053t0003g0227 a0052c0030t0003g0246	9	272	0.0331	-14	c.173 others(33): Show c.173+30881_173+30894delTGTGTGTGTGCGTG	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106504651	TTGTGTGT others(7): Show TTGTGTGTGTGTATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(203): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp1 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(44): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0028 a0029 a0034 a0035 a0037 a0038 a0039 a0040 a0041 a0044 a0046 a0047 a0048 a0049 a0052 a0054 a0057 a0059 a0060 a0063 a0064 a0065 a0066 a0067 a0068	a0001c0001 a0001c0009 a0001c0067 others(53): Show a0001c0001 a0001c0009 a0001c0067 a0002c0003 a0002c0011 a0003c0002 a0003c0038 a0004c0004 a0004c0057 a0004c0069 a0005c0006 a0005c0008 a0006c0005 a0007c0007 a0008c0010 a0009c0012 a0010c0013 a0011c0014 a0012c0015 a0013c0016 a0014c0017 a0015c0018 a0016c0023 a0016c0039 a0018c0037 a0019c0020 a0020c0021 a0021c0026 a0022c0040 a0022c0061 a0023c0025 a0028c0043 a0029c0049 a0034c0052 a0035c0051 a0037c0059 a0038c0058 a0039c0056 a0040c0065 a0041c0054 a0044c0068 a0046c0064 a0047c0060 a0048c0070 a0049c0071 a0052c0030 a0054c0029 a0057c0034 a0059c0028 a0060c0072 a0063c0075 a0064c0076 a0065c0077 a0066c0080 a0067c0079 a0068c0078	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(72): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0009t0001 a0001c0009t0004 a0001c0009t0005 a0001c0067t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0011t0003 a0003c0002t0001 a0003c0002t0003 a0003c0002t0005 a0003c0038t0007 a0004c0004t0002 a0004c0004t0017 a0004c0057t0002 a0004c0069t0002 a0005c0006t0003 a0005c0006t0008 a0005c0008t0003 a0006c0005t0001 a0006c0005t0004 a0007c0007t0003 a0008c0010t0001 a0008c0010t0004 a0008c0010t0005 a0008c0010t0006 a0009c0012t0002 a0010c0013t0009 a0011c0014t0001 a0012c0015t0003 a0012c0015t0007 a0013c0016t0001 a0014c0017t0003 a0014c0017t0007 a0015c0018t0002 a0016c0023t0001 a0016c0039t0001 a0018c0037t0001 a0019c0020t0007 a0020c0021t0004 a0021c0026t0001 a0022c0040t0001 a0022c0061t0001 a0023c0025t0002 a0028c0043t0013 a0029c0049t0002 a0034c0052t0001 a0035c0051t0016 a0037c0059t0002 a0038c0058t0002 a0039c0056t0002 a0040c0065t0011 a0041c0054t0008 a0044c0068t0001 a0046c0064t0001 a0047c0060t0004 a0048c0070t0004 a0049c0071t0004 a0052c0030t0003 a0054c0029t0001 a0057c0034t0007 a0059c0028t0002 a0060c0072t0001 a0063c0075t0001 a0064c0076t0003 a0065c0077t0001 a0066c0080t0001 a0067c0079t0002 a0068c0078t0002	a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0025 others(203): Show a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0209 a0001c0001t0004g0067 a0001c0001t0004g0125 a0001c0001t0004g0168 a0001c0001t0005g0011 a0001c0001t0005g0022 a0001c0001t0005g0092 a0001c0001t0005g0098 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0135 a0001c0001t0006g0055 a0001c0009t0001g0023 a0001c0009t0001g0046 a0001c0009t0001g0172 a0001c0009t0004g0081 a0001c0009t0004g0164 a0001c0009t0005g0019 a0001c0067t0001g0015 a0002c0003t0002g0099 a0002c0003t0003g0094 a0002c0003t0003g0220 a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0006g0044 a0002c0003t0006g0045 a0002c0003t0006g0047 a0002c0003t0006g0048 a0002c0003t0006g0128 a0002c0003t0006g0134 a0002c0003t0006g0217 a0002c0003t0006g0233 a0002c0003t0007g0116 a0002c0011t0003g0002 a0002c0011t0003g0003 a0002c0011t0003g0057 a0002c0011t0003g0133 a0002c0011t0003g0160 a0003c0002t0001g0014 a0003c0002t0001g0029 a0003c0002t0001g0037 a0003c0002t0003g0056 a0003c0002t0005g0005 a0003c0002t0005g0013 a0003c0002t0005g0031 a0003c0002t0005g0082 a0003c0002t0005g0102 a0003c0002t0005g0103 a0003c0002t0005g0106 a0003c0002t0005g0132 a0003c0002t0005g0150 a0003c0002t0005g0151 a0003c0002t0005g0152 a0003c0002t0005g0153 a0003c0002t0005g0154 a0003c0002t0005g0162 a0003c0002t0005g0177 a0003c0002t0005g0199 a0003c0002t0005g0260 a0003c0038t0007g0144 a0004c0004t0002g0017 a0004c0004t0002g0040 a0004c0004t0002g0069 a0004c0004t0002g0107 a0004c0004t0002g0110 a0004c0004t0002g0111 a0004c0004t0002g0114 a0004c0004t0002g0118 a0004c0004t0002g0142 a0004c0004t0002g0163 a0004c0004t0002g0176 a0004c0004t0002g0181 a0004c0004t0002g0195 a0004c0004t0002g0208 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0228 a0004c0004t0002g0256 a0004c0004t0002g0259 a0004c0004t0017g0149 a0004c0057t0002g0171 a0004c0069t0002g0166 a0005c0006t0003g0004 a0005c0006t0003g0038 a0005c0006t0003g0079 a0005c0006t0003g0145 a0005c0006t0003g0146 a0005c0006t0003g0202 a0005c0006t0008g0161 a0005c0006t0008g0185 a0005c0006t0008g0243 a0005c0006t0008g0269 a0005c0008t0003g0051 a0005c0008t0003g0138 a0005c0008t0003g0175 a0005c0008t0003g0201 a0006c0005t0001g0120 a0006c0005t0004g0036 a0006c0005t0004g0039 a0006c0005t0004g0179 a0007c0007t0003g0072 a0007c0007t0003g0085 a0007c0007t0003g0210 a0007c0007t0003g0229 a0007c0007t0003g0266 a0007c0007t0003g0270 a0008c0010t0001g0021 a0008c0010t0004g0028 a0008c0010t0004g0178 a0008c0010t0005g0104 a0008c0010t0006g0117 a0009c0012t0002g0231 a0009c0012t0002g0272 a0010c0013t0009g0205 a0011c0014t0001g0034 a0011c0014t0001g0180 a0011c0014t0001g0183 a0011c0014t0001g0257 a0012c0015t0003g0241 a0012c0015t0003g0242 a0012c0015t0007g0239 a0012c0015t0007g0245 a0013c0016t0001g0136 a0013c0016t0001g0174 a0013c0016t0001g0264 a0014c0017t0003g0053 a0014c0017t0007g0075 a0015c0018t0002g0222 a0015c0018t0002g0263 a0015c0018t0002g0268 a0016c0023t0001g0182 a0016c0023t0001g0265 a0016c0039t0001g0074 a0018c0037t0001g0253 a0019c0020t0007g0080 a0020c0021t0004g0018 a0020c0021t0004g0124 a0021c0026t0001g0156 a0021c0026t0001g0211 a0022c0040t0001g0112 a0022c0061t0001g0096 a0023c0025t0002g0137 a0023c0025t0002g0157 a0028c0043t0013g0230 a0029c0049t0002g0200 a0034c0052t0001g0186 a0035c0051t0016g0225 a0037c0059t0002g0115 a0038c0058t0002g0215 a0039c0056t0002g0062 a0040c0065t0011g0141 a0041c0054t0008g0196 a0044c0068t0001g0159 a0046c0064t0001g0010 a0047c0060t0004g0095 a0048c0070t0004g0139 a0049c0071t0004g0167 a0052c0030t0003g0246 a0054c0029t0001g0244 a0057c0034t0007g0240 a0059c0028t0002g0091 a0060c0072t0001g0254 a0063c0075t0001g0237 a0064c0076t0003g0251 a0065c0077t0001g0221 a0066c0080t0001g0009 a0067c0079t0002g0006 a0068c0078t0002g0007	206	272	0.7574	-14	c.313 others(31): Show c.313-6767_313-6754delATATGTGTGTGTGT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106517313	CACACATA others(7): Show CACACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02723.hp1 HG02055.hp1 HG02145.hp1 HG02723.hp1	a0017 a0026 a0017 a0026	a0017c0019 a0026c0041 a0017c0019 a0026c0041	a0017c0019t0001 a0026c0041t0003 a0017c0019t0001 a0026c0041t0003	a0017c0019t0001g0070 a0017c0019t0001g0073 a0026c0041t0003g0093 a0017c0019t0001g0070 a0017c0019t0001g0073 a0026c0041t0003g0093	3	272	0.0110	-14	c.192 others(33): Show c.1923-1798_1923-1785delTATATATATACACA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106517433	CACACACA others(7): Show CACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02723.hp1 HG02055.hp1 HG02145.hp1 HG02723.hp1	a0017 a0026 a0017 a0026	a0017c0019 a0026c0041 a0017c0019 a0026c0041	a0017c0019t0001 a0026c0041t0003 a0017c0019t0001 a0026c0041t0003	a0017c0019t0001g0070 a0017c0019t0001g0073 a0026c0041t0003g0093 a0017c0019t0001g0070 a0017c0019t0001g0073 a0026c0041t0003g0093	3	272	0.0110	-14	c.192 others(33): Show c.1923-1682_1923-1669delCACACATATATATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG2_chr1_26316865_26359130	26324504	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02647.hp2 others(2): Show HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp2	a0006 a0034 a0006 a0034	a0006c0008 a0034c0040 a0006c0008 a0034c0040	a0006c0008t0001 a0034c0040t0002 a0006c0008t0001 a0034c0040t0002	a0006c0008t0001g0008 a0006c0008t0001g0043 a0006c0008t0001g0044 others(1): Show a0006c0008t0001g0008 a0006c0008t0001g0043 a0006c0008t0001g0044 a0034c0040t0002g0322	5	376	0.0133	-14	c.457 others(31): Show c.4579-208_4579-195delTGTGTGTGTGTGTG	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	17/19			chr1	TogoVar
CRYBG2_chr1_26316865_26359130	26333014	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0033 a0033	a0033c0038 a0033c0038	a0033c0038t0002 a0033c0038t0002	a0033c0038t0002g0254 a0033c0038t0002g0254	1	376	0.0027	-14	c.418 others(33): Show c.4185-1410_4185-1397delTTTTTTTTTTTTTT	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	14/19			chr1	TogoVar
CRYBG3_chr3_97817011_97949984	97904680	TTTTTTAT others(7): Show TTTTTTATTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18971.hp2 NA19066.hp2 HG00423.hp2 NA18971.hp2 NA19066.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0106 a0002c0011t0001g0107 a0002c0011t0001g0112 a0002c0011t0001g0106 a0002c0011t0001g0107 a0002c0011t0001g0112	3	316	0.0095	-14	c.800 others(33): Show c.8004+4209_8004+4222delATTTTTATTTTTTT	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRYGS_chr3_186533443_186549380	186534911	AACACACA others(7): Show AACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01358.hp2 HG02451.hp2 others(9): Show HG01175.hp2 HG01358.hp2 HG02451.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG03139.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 NA19030.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0005c0007t0001g0023 a0001c0001t0001g0003 a0001c0001t0001g0006 a0005c0007t0001g0023	12	396	0.0303	-14	c.37 others(25): Show c.3771_*3784delGTGTGTGTGTGTGT	CRYGS	ENSG00000213139.8	transcript	ENST00000307944.6	protein_coding		3531		chr3	TogoVar
CRYL1_chr13_20398669_20530857	20420701	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02970.hp2 NA18906.hp2 others(1): Show HG00735.hp2 HG02970.hp2 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0090 a0001c0002t0001g0189 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0090 a0001c0002t0001g0189 a0001c0002t0001g0245	4	250	0.0160	-14	c.634 others(31): Show c.634-7328_634-7315delCACACACACACACA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CSE1L_chr20_49041312_49101949	49056847	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00673.hp2 others(89): Show HG00323.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01934.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp1 NA18978.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19082.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0005 a0001c0001 a0001c0002 a0005c0005	a0001c0001t0001 a0001c0002t0001 a0005c0005t0001 a0001c0001t0001 a0001c0002t0001 a0005c0005t0001	a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(87): Show a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0002t0001g0001 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0001g0347 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0001g0364 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0369 a0001c0002t0001g0370 a0001c0002t0001g0372 a0001c0002t0001g0373 a0001c0002t0001g0374 a0001c0002t0001g0375 a0001c0002t0001g0376 a0005c0005t0001g0239	92	386	0.2383	-14	c.-11 others(31): Show c.-11-1579_-11-1566delTGTGTGTGTGTGTG	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49085562	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG01106.hp1 others(35): Show HG00280.hp2 HG00558.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03540.hp1 HG03710.hp2 HG03942.hp1 NA18747.hp1 NA18941.hp2 NA18946.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18980.hp2 NA18989.hp1 NA19060.hp1 NA19063.hp1 NA19068.hp1 NA19085.hp1 NA19087.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0004c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0265 others(33): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0006g0285 a0001c0001t0008g0284 a0004c0008t0001g0315	38	386	0.0985	-14	c.172 others(31): Show c.1723+190_1723+203delTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1R_chr5_150048295_150091554	150054771	AAGGCCAG others(7): Show AAGGCCAGGAGTTCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02451.hp1 others(12): Show HG01884.hp1 HG02109.hp1 HG02451.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0008 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0015 a0001c0006t0001 a0002c0003t0001 a0002c0008t0001 a0003c0007t0001	a0001c0001t0001g0186 a0001c0001t0001g0366 a0001c0001t0001g0367 others(11): Show a0001c0001t0001g0186 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0002t0001g0108 a0001c0002t0001g0387 a0001c0002t0015g0174 a0001c0006t0001g0364 a0002c0003t0001g0089 a0002c0003t0001g0375 a0002c0008t0001g0011 a0002c0008t0001g0236 a0002c0008t0001g0365 a0002c0008t0001g0381 a0003c0007t0001g0383	15	406	0.0370	-14	c.265 others(31): Show c.2655-355_2655-342delGGAACTCCTGGCCT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	19/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150083349	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0003 a0003c0015t0003	a0003c0015t0003g0306 a0003c0015t0003g0306	1	406	0.0025	-14	c.50- others(29): Show c.50-2339_50-2326delGTGTGTGTGTGTGT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1_chr1_109905849_109935992	109910033	TCCAGGGA others(7): Show TCCAGGGAAATCTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-14	c.-99 others(23): Show c.-990_-977delCCAGGGAAATCTAG	CSF1	ENSG00000184371.14	transcript	ENST00000329608.11	protein_coding		815		chr1	TogoVar
CSF2RA_chrX_1263814_1314935	1281042	CCTCCTGC others(7): Show CCTCCTGCTCCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01081.hp2 others(24): Show HG00639.hp2 HG01070.hp2 HG01081.hp2 HG01496.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02155.hp1 HG02273.hp2 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 NA18960.hp1 NA18969.hp1 NA18973.hp2 NA18980.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19081.hp1 NA19091.hp2 NA21309.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0015t0003 a0011c0021t0004	a0001c0001t0001g0025 a0001c0001t0001g0067 a0001c0001t0001g0068 others(24): Show a0001c0001t0001g0025 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0084 a0001c0001t0003g0046 a0001c0001t0003g0097 a0001c0001t0003g0113 a0001c0001t0004g0072 a0001c0001t0004g0094 a0001c0001t0004g0159 a0001c0002t0001g0103 a0001c0002t0003g0035 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0042 a0001c0002t0004g0050 a0001c0002t0004g0083 a0001c0002t0004g0132 a0001c0002t0005g0040 a0001c0002t0006g0039 a0001c0002t0008g0082 a0001c0015t0003g0081 a0011c0021t0004g0074	27	159	0.1698	-14	c.-26 others(31): Show c.-26-1630_-26-1617delGCTCCCCTTCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1285701	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA19030.hp1 HG03239.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0117 a0001c0002t0005g0134 a0001c0001t0002g0117 a0001c0002t0005g0134	2	159	0.0126	-14	c.77- others(25): Show c.77-60_77-47delAAAAAAAAAAAAAA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19404942	ATGCCTGA others(7): Show ATGCCTGACATTCAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0042 a0002c0012t0042	a0002c0012t0042g0091 a0002c0012t0042g0091	1	238	0.0042	-14	c.82 others(23): Show c.824_*837delCTGAATGTCAGGCA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	9/9	824		chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19407905	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp1 HG01257.hp2 others(13): Show HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG02015.hp1 HG02155.hp2 HG03669.hp1 NA18941.hp2 NA18942.hp2 NA18968.hp1 NA18977.hp2 NA18984.hp1 NA19011.hp1 NA19054.hp1 NA19057.hp2 NA19091.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0048 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0048 a0002c0003t0012 a0007c0015t0002	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0206 others(13): Show a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0001t0002g0086 a0001c0001t0002g0146 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0002t0048g0238 a0002c0003t0012g0066 a0007c0015t0002g0060	16	238	0.0672	-14	c.130 others(31): Show c.1309+694_1309+707delCACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	8/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19428825	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19030.hp2 HG03486.hp1 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0011 a0003c0005t0004 a0002c0003t0011 a0003c0005t0004	a0002c0003t0011g0188 a0003c0005t0004g0007 a0002c0003t0011g0188 a0003c0005t0004g0007	2	238	0.0084	-14	c.954 others(31): Show c.954-8321_954-8308delCACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	5/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19488370	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01496.hp1 others(15): Show HG00280.hp1 HG00408.hp1 HG01496.hp1 HG02015.hp2 HG02145.hp2 HG02451.hp1 HG02630.hp1 HG02735.hp2 HG03017.hp1 HG03225.hp1 HG03492.hp1 NA18942.hp2 NA18959.hp2 NA18988.hp1 NA19011.hp1 NA19054.hp2 NA19087.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0009	a0001c0001t0001 a0001c0002t0006 a0001c0002t0023 others(13): Show a0001c0001t0001 a0001c0002t0006 a0001c0002t0023 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0008 a0002c0003t0009 a0002c0003t0011 a0002c0003t0012 a0002c0003t0015 a0002c0003t0026 a0002c0003t0028 a0002c0003t0037 a0004c0009t0003 a0004c0009t0012	a0001c0001t0001g0206 a0001c0002t0006g0047 a0001c0002t0023g0096 others(15): Show a0001c0001t0001g0206 a0001c0002t0006g0047 a0001c0002t0023g0096 a0002c0003t0003g0048 a0002c0003t0003g0109 a0002c0003t0004g0104 a0002c0003t0005g0052 a0002c0003t0008g0087 a0002c0003t0009g0168 a0002c0003t0011g0034 a0002c0003t0012g0066 a0002c0003t0015g0019 a0002c0003t0026g0002 a0002c0003t0028g0111 a0002c0003t0037g0233 a0004c0009t0003g0107 a0004c0009t0003g0215 a0004c0009t0012g0070	18	238	0.0756	-14	c.634 others(33): Show c.634+16817_634+16830delATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0231 a0001c0001t0010g0231	1	238	0.0042	-14	c.-29 others(33): Show c.-296-8359_-296-8346delTATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19530305	TACACATA others(7): Show TACACATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(53): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG04115.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18953.hp1 NA18959.hp1 NA18977.hp2 NA18984.hp1 NA19043.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0011	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0017 a0002c0003 a0008c0016 a0009c0020 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0014 a0001c0002t0016 a0001c0002t0023 a0001c0002t0025 a0001c0002t0041 a0001c0002t0043 a0001c0002t0044 a0001c0002t0047 a0001c0007t0031 a0001c0017t0023 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0028 a0002c0003t0034 a0002c0003t0046 a0008c0016t0009 a0009c0020t0030 a0011c0019t0009	a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0001t0001g0139 others(53): Show a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0210 a0001c0001t0001g0226 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0010g0122 a0001c0002t0001g0115 a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0002t0002g0067 a0001c0002t0002g0084 a0001c0002t0002g0103 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0164 a0001c0002t0002g0236 a0001c0002t0003g0098 a0001c0002t0005g0050 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0075 a0001c0002t0005g0080 a0001c0002t0006g0045 a0001c0002t0012g0175 a0001c0002t0014g0120 a0001c0002t0016g0049 a0001c0002t0016g0162 a0001c0002t0016g0173 a0001c0002t0023g0096 a0001c0002t0025g0001 a0001c0002t0041g0031 a0001c0002t0043g0097 a0001c0002t0044g0186 a0001c0002t0047g0197 a0001c0007t0031g0029 a0001c0017t0023g0011 a0002c0003t0003g0099 a0002c0003t0004g0006 a0002c0003t0004g0014 a0002c0003t0005g0043 a0002c0003t0005g0100 a0002c0003t0005g0113 a0002c0003t0005g0190 a0002c0003t0007g0128 a0002c0003t0028g0111 a0002c0003t0034g0054 a0002c0003t0046g0081 a0008c0016t0009g0161 a0009c0020t0030g0182 a0011c0019t0009g0055	56	238	0.2353	-14	c.-29 others(35): Show c.-296-24189_-296-24176delGTGTGTGTATGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19603047	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02809.hp1 HG02886.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0094 a0003c0005t0004g0184 a0003c0005t0004g0094 a0003c0005t0004g0184	2	238	0.0084	-14	c.-39 others(33): Show c.-391-1196_-391-1183delGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19618647	AAAAAAAA others(7): Show AAAAAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0027 a0003c0005t0027	a0003c0005t0027g0229 a0003c0005t0027g0229	1	238	0.0042	-14	c.-39 others(35): Show c.-391-16796_-391-16783delCTTTCTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19630194	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01884.hp1 others(14): Show HG00738.hp1 HG01099.hp1 HG01884.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02109.hp1 HG02132.hp2 HG02280.hp1 HG02809.hp1 HG02886.hp2 HG03471.hp1 NA18953.hp2 NA18966.hp2 NA18971.hp2 NA19057.hp1 NA19087.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0003 a0002c0004 others(2): Show a0001c0001 a0002c0003 a0002c0004 a0003c0005 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0004t0005 a0003c0005t0004 a0005c0011t0003	a0001c0001t0001g0004 a0001c0001t0001g0123 a0001c0001t0001g0125 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0193 a0001c0001t0001g0214 a0001c0001t0002g0059 a0001c0001t0019g0082 a0002c0003t0003g0105 a0002c0003t0004g0104 a0002c0003t0005g0018 a0002c0003t0005g0093 a0002c0004t0005g0015 a0003c0005t0004g0094 a0003c0005t0004g0184 a0005c0011t0003g0180 a0005c0011t0003g0181	17	238	0.0714	-14	c.-39 others(35): Show c.-391-28343_-391-28330delCACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666791	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0227 a0001c0002t0032g0227	1	238	0.0042	-14	c.-39 others(35): Show c.-391-64940_-391-64927delTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666795	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01975.hp2 HG02486.hp2 others(4): Show HG01258.hp2 HG01975.hp2 HG02486.hp2 HG02647.hp2 HG02897.hp1 NA18977.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003	a0001c0001t0002 a0001c0001t0035 a0001c0002t0005 others(4): Show a0001c0001t0002 a0001c0001t0035 a0001c0002t0005 a0001c0002t0016 a0001c0007t0031 a0002c0003t0004 a0002c0003t0011	a0001c0001t0002g0205 a0001c0001t0035g0207 a0001c0002t0005g0172 others(4): Show a0001c0001t0002g0205 a0001c0001t0035g0207 a0001c0002t0005g0172 a0001c0002t0016g0162 a0001c0007t0031g0029 a0002c0003t0004g0014 a0002c0003t0011g0188	7	238	0.0294	-14	c.-39 others(35): Show c.-391-64944_-391-64931delTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43143493	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18998.hp2 HG03579.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0197 a0001c0001t0019g0279 a0001c0001t0002g0197 a0001c0001t0019g0279	2	398	0.0050	-14	c.-25 others(33): Show c.-254+4957_-254+4970delTGTGTGTGTGTGTG	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSGALNACT2_chr10_43133445_43190302	43146978	TTTTTTTT others(7): Show TTTTTTTTTTTTGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02717.hp1 others(2): Show HG01891.hp2 HG02280.hp1 HG02717.hp1 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0130 a0001c0001t0001g0169 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0130 a0001c0001t0001g0169 a0001c0001t0001g0170	5	398	0.0126	-14	c.-25 others(33): Show c.-253-7918_-253-7905delTTTTTTTTTTTGTG	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7			chr10	TogoVar
CSH1_chr17_63889918_63901574	63898132	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	-14	c.-16 others(25): Show c.-1635_-1622delGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1559		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898136	TTCTTTCT others(7): Show TTCTTTCTTTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG03098.hp1 others(1): Show HG02572.hp2 HG02809.hp2 HG03098.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	428	0.0094	-14	c.-16 others(25): Show c.-1639_-1626delGAGAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1563		chr17	TogoVar
CSH2_chr17_63867016_63878677	63870229	CAATGAGA others(7): Show CAATGAGAGTGGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(178): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0002c0006 others(4): Show a0001c0001 a0002c0002 a0002c0006 a0002c0011 a0003c0004 a0006c0008 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0006t0002 a0002c0011t0002 a0003c0004t0002 a0006c0008t0002 a0007c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0002g0002 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0002c0002t0002g0003 a0002c0006t0002g0023 a0002c0011t0002g0029 a0003c0004t0002g0008 a0003c0004t0002g0021 a0006c0008t0002g0025 a0007c0007t0002g0024	181	410	0.4415	-14	c.18 others(25): Show c.1883_*1896delAAACCACTCTCATT	CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding		1786		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63912815	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0007	1	438	0.0023	-14	c.-16 others(25): Show c.-1633_-1620delGAAAGAAAGAAAGA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		1558		chr17	TogoVar
CSMD1_chr8_2930361_4999914	2960953	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02572.hp1 others(6): Show HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02965.hp2 HG03209.hp1 HG03516.hp1 NA18522.hp1	a0001 a0003 a0010 others(4): Show a0001 a0003 a0010 a0027 a0029 a0033 a0038	a0001c0020 a0001c0043 a0003c0014 others(6): Show a0001c0020 a0001c0043 a0003c0014 a0003c0058 a0010c0112 a0027c0023 a0029c0028 a0033c0042 a0038c0066	a0001c0020t0016 a0001c0043t0031 a0003c0014t0055 others(6): Show a0001c0020t0016 a0001c0043t0031 a0003c0014t0055 a0003c0058t0057 a0010c0112t0081 a0027c0023t0001 a0029c0028t0024 a0033c0042t0004 a0038c0066t0010	a0001c0020t0016g0065 a0001c0043t0031g0044 a0003c0014t0055g0056 others(6): Show a0001c0020t0016g0065 a0001c0043t0031g0044 a0003c0014t0055g0056 a0003c0058t0057g0117 a0010c0112t0081g0090 a0027c0023t0001g0052 a0029c0028t0024g0040 a0033c0042t0004g0004 a0038c0066t0010g0032	9	126	0.0714	-14	c.970 others(31): Show c.9702+174_9702+187delGTATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083608	TTTTATAT others(7): Show TTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02615.hp2 others(1): Show HG01884.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2	a0001 a0010 a0001 a0010	a0001c0004 a0001c0046 a0010c0112 a0001c0004 a0001c0046 a0010c0112	a0001c0004t0020 a0001c0004t0063 a0001c0046t0073 others(1): Show a0001c0004t0020 a0001c0004t0063 a0001c0046t0073 a0010c0112t0081	a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0046t0073g0091 others(1): Show a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0046t0073g0091 a0010c0112t0081g0090	4	126	0.0318	-14	c.747 others(33): Show c.7474+3475_7474+3488delTATATATATATAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3119384	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19060.hp2 NA18983.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0105 a0002c0048 a0001c0105 a0002c0048	a0001c0105t0001 a0002c0048t0013 a0001c0105t0001 a0002c0048t0013	a0001c0105t0001g0029 a0002c0048t0013g0015 a0001c0105t0001g0029 a0002c0048t0013g0015	2	126	0.0159	-14	c.624 others(31): Show c.6242-811_6242-798delTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182578	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp2 HG02723.hp1 others(5): Show HG01255.hp1 HG02622.hp2 HG02723.hp1 HG03209.hp1 HG03669.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0010 a0024	a0001c0001 a0001c0019 a0001c0020 others(5): Show a0001c0001 a0001c0019 a0001c0020 a0001c0085 a0002c0031 a0008c0067 a0010c0112 a0024c0038	a0001c0001t0039 a0001c0019t0078 a0001c0020t0016 others(5): Show a0001c0001t0039 a0001c0019t0078 a0001c0020t0016 a0001c0085t0020 a0002c0031t0015 a0008c0067t0059 a0010c0112t0081 a0024c0038t0075	a0001c0001t0039g0017 a0001c0019t0078g0105 a0001c0020t0016g0065 others(5): Show a0001c0001t0039g0017 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0085t0020g0060 a0002c0031t0015g0001 a0008c0067t0059g0079 a0010c0112t0081g0090 a0024c0038t0075g0067	8	126	0.0635	-14	c.562 others(33): Show c.5621-1378_5621-1365delCACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3262218	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	-14	c.415 others(35): Show c.4153+21912_4153+21925delGTATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3394012	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18522.hp2 HG02257.hp1 NA18522.hp2	a0002 a0007 a0002 a0007	a0002c0072 a0007c0088 a0002c0072 a0007c0088	a0002c0072t0003 a0007c0088t0076 a0002c0072t0003 a0007c0088t0076	a0002c0072t0003g0066 a0007c0088t0076g0057 a0002c0072t0003g0066 a0007c0088t0076g0057	2	126	0.0159	-14	c.259 others(33): Show c.2593+2168_2593+2181delTATATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	17/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3416302	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	-14	c.156 others(33): Show c.1562-6711_1562-6698delTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3435264	TTTTCACT others(7): Show TTTTCACTGCACATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0001 a0024 a0001 a0024	a0001c0093 a0024c0038 a0001c0093 a0024c0038	a0001c0093t0009 a0024c0038t0075 a0001c0093t0009 a0024c0038t0075	a0001c0093t0009g0007 a0024c0038t0075g0067 a0001c0093t0009g0007 a0024c0038t0075g0067	2	126	0.0159	-14	c.156 others(35): Show c.1562-25673_1562-25660delTATGTGCAGTGAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3511763	ATAACATA others(7): Show ATAACATAACATAAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02257.hp2 HG02451.hp1 others(4): Show HG01255.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG03579.hp1 HG03669.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0033	a0001c0006 a0002c0030 a0002c0031 others(4): Show a0001c0006 a0002c0030 a0002c0031 a0002c0051 a0002c0075 a0006c0116 a0033c0042	a0001c0006t0002 a0002c0030t0016 a0002c0031t0015 others(4): Show a0001c0006t0002 a0002c0030t0016 a0002c0031t0015 a0002c0051t0006 a0002c0075t0026 a0006c0116t0004 a0033c0042t0004	a0001c0006t0002g0109 a0002c0030t0016g0122 a0002c0031t0015g0001 others(4): Show a0001c0006t0002g0109 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0051t0006g0081 a0002c0075t0026g0051 a0006c0116t0004g0039 a0033c0042t0004g0004	7	126	0.0556	-14	c.134 others(35): Show c.1345-18051_1345-18038delGTTATGTTATGTTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3538518	CCACCTGC others(7): Show CCACCTGCGATGCCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	-14	c.134 others(35): Show c.1344+36413_1344+36426delAGGCATCGCAGGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG02258.hp2 HG00735.hp2 HG01261.hp2 HG02258.hp2	a0001 a0016 a0001 a0016	a0001c0073 a0001c0115 a0016c0063 a0001c0073 a0001c0115 a0016c0063	a0001c0073t0007 a0001c0115t0042 a0016c0063t0010 a0001c0073t0007 a0001c0115t0042 a0016c0063t0010	a0001c0073t0007g0108 a0001c0115t0042g0055 a0016c0063t0010g0045 a0001c0073t0007g0108 a0001c0115t0042g0055 a0016c0063t0010g0045	3	126	0.0238	-14	c.932 others(31): Show c.932-1203_932-1190delAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3712396	GAGAGACA others(7): Show GAGAGACAGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG01255.hp2 others(4): Show HG00438.hp1 HG01255.hp1 HG01255.hp2 HG02622.hp1 HG03098.hp2 HG04228.hp1 NA19060.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0007 a0001c0049 others(4): Show a0001c0001 a0001c0007 a0001c0049 a0001c0094 a0002c0030 a0002c0031 a0011c0110	a0001c0001t0002 a0001c0007t0001 a0001c0049t0002 others(4): Show a0001c0001t0002 a0001c0007t0001 a0001c0049t0002 a0001c0094t0002 a0002c0030t0016 a0002c0031t0015 a0011c0110t0074	a0001c0001t0002g0125 a0001c0007t0001g0035 a0001c0049t0002g0071 others(4): Show a0001c0001t0002g0125 a0001c0007t0001g0035 a0001c0049t0002g0071 a0001c0094t0002g0110 a0002c0030t0016g0122 a0002c0031t0015g0001 a0011c0110t0074g0082	7	126	0.0556	-14	c.932 others(31): Show c.932-3919_932-3906delGTCTGTCTGTCTCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3729948	AAAAAAAA others(7): Show AAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG03130.hp2 others(1): Show HG02486.hp2 HG02647.hp1 HG03130.hp2 NA20129.hp1	a0002 a0003 a0014 others(1): Show a0002 a0003 a0014 a0018	a0002c0070 a0003c0058 a0014c0010 others(1): Show a0002c0070 a0003c0058 a0014c0010 a0018c0044	a0002c0070t0046 a0003c0058t0057 a0014c0010t0070 others(1): Show a0002c0070t0046 a0003c0058t0057 a0014c0010t0070 a0018c0044t0064	a0002c0070t0046g0092 a0003c0058t0057g0117 a0014c0010t0070g0084 others(1): Show a0002c0070t0046g0092 a0003c0058t0057g0117 a0014c0010t0070g0084 a0018c0044t0064g0085	4	126	0.0318	-14	c.932 others(33): Show c.932-21471_932-21458delGTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar

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