Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSF1_chr1_109905849_109935992	109919927	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG00733.hp1 others(54): Show HG00609.hp2 HG00673.hp1 HG00733.hp1 HG01081.hp2 HG01106.hp1 HG01261.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02735.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18984.hp1 NA18991.hp2 NA18998.hp1 NA19002.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19091.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0004 a0002c0002 others(5): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0007 a0004c0013 a0005c0008 a0007c0014	a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 others(9): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 a0002c0002t0005 a0003c0003t0002 a0003c0003t0008 a0003c0003t0021 a0004c0007t0002 a0004c0013t0001 a0005c0008t0002 a0005c0008t0004 a0007c0014t0006	a0001c0001t0001g0035 a0001c0004t0001g0120 a0002c0002t0002g0027 others(24): Show a0001c0001t0001g0035 a0001c0004t0001g0120 a0002c0002t0002g0027 a0002c0002t0005g0027 a0003c0003t0002g0003 a0003c0003t0002g0020 a0003c0003t0002g0031 a0003c0003t0002g0049 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0107 a0003c0003t0002g0140 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0144 a0003c0003t0002g0145 a0003c0003t0002g0146 a0003c0003t0002g0150 a0003c0003t0008g0031 a0003c0003t0021g0003 a0004c0007t0002g0027 a0004c0013t0001g0111 a0005c0008t0002g0003 a0005c0008t0002g0050 a0005c0008t0002g0099 a0005c0008t0004g0152 a0007c0014t0006g0154	57	434	0.1313	-16	c.397 others(33): Show c.397-1884_397-1869delTAAATAAATAAATAAA	CSF1	ENSG00000184371.14	transcript	ENST00000329608.11	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CSF2RA_chrX_1263814_1314935	1276169	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0107 a0001c0018t0003g0107	1	159	0.0063	-16	c.-27 others(33): Show c.-27+1371_-27+1386delGTTTGTTTGTTTGTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19407905	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(62): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02717.hp1 HG03195.hp2 HG03209.hp1 HG03492.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18977.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA19011.hp2 NA19066.hp1 NA19066.hp2 NA19091.hp1 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0008 a0006c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0035 a0001c0001t0036 a0001c0002t0008 a0001c0002t0012 a0002c0003t0045 a0002c0004t0012 a0002c0008t0003 a0006c0023t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 others(62): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0002g0218 a0001c0001t0010g0088 a0001c0001t0010g0122 a0001c0001t0010g0150 a0001c0001t0010g0202 a0001c0001t0010g0231 a0001c0001t0019g0016 a0001c0001t0019g0082 a0001c0001t0035g0207 a0001c0001t0036g0225 a0001c0002t0008g0035 a0001c0002t0008g0216 a0001c0002t0008g0232 a0001c0002t0008g0237 a0001c0002t0012g0036 a0001c0002t0012g0175 a0002c0003t0045g0090 a0002c0004t0012g0200 a0002c0008t0003g0140 a0006c0023t0001g0196	65	238	0.2731	-16	c.130 others(33): Show c.1309+692_1309+707delCACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	8/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19428825	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG02717.hp2 others(4): Show HG01884.hp2 HG02622.hp2 HG02717.hp2 HG02965.hp1 HG03225.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 others(2): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0043	a0001c0002t0003g0098 a0001c0002t0004g0095 a0001c0002t0005g0075 others(4): Show a0001c0002t0003g0098 a0001c0002t0004g0095 a0001c0002t0005g0075 a0001c0002t0005g0080 a0001c0002t0006g0017 a0001c0002t0006g0047 a0001c0002t0043g0097	7	238	0.0294	-16	c.954 others(33): Show c.954-8323_954-8308delCACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	5/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19428861	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0015 a0002c0004t0005g0015	1	238	0.0042	-16	c.954 others(33): Show c.954-8359_954-8344delTACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	5/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19434911	CCATTTCC others(9): Show CCATTTCCCCCAGAAAA	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	238	0.0042	-16	c.953 others(33): Show c.953+4903_953+4918delTTTTCTGGGGGAAATG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	5/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19488370	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01243.hp2 others(20): Show HG00280.hp2 HG00323.hp2 HG01243.hp2 HG01884.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02258.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04228.hp2 NA18522.hp2 NA19240.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0002 a0002c0003 a0002c0004 others(4): Show a0001c0002 a0002c0003 a0002c0004 a0002c0012 a0003c0005 a0007c0015 a0008c0016	a0001c0002t0004 a0001c0002t0009 a0001c0002t0043 others(13): Show a0001c0002t0004 a0001c0002t0009 a0001c0002t0043 a0001c0002t0048 a0002c0003t0003 a0002c0003t0004 a0002c0003t0015 a0002c0003t0029 a0002c0003t0038 a0002c0003t0045 a0002c0003t0046 a0002c0004t0013 a0002c0012t0042 a0003c0005t0004 a0007c0015t0002 a0008c0016t0009	a0001c0002t0004g0095 a0001c0002t0009g0003 a0001c0002t0043g0097 others(20): Show a0001c0002t0004g0095 a0001c0002t0009g0003 a0001c0002t0043g0097 a0001c0002t0048g0238 a0002c0003t0003g0068 a0002c0003t0003g0105 a0002c0003t0003g0203 a0002c0003t0004g0235 a0002c0003t0015g0042 a0002c0003t0015g0133 a0002c0003t0029g0170 a0002c0003t0038g0221 a0002c0003t0045g0090 a0002c0003t0046g0081 a0002c0004t0013g0057 a0002c0004t0013g0124 a0002c0004t0013g0199 a0002c0004t0013g0219 a0002c0012t0042g0091 a0003c0005t0004g0094 a0003c0005t0004g0184 a0007c0015t0002g0060 a0008c0016t0009g0161	23	238	0.0966	-16	c.634 others(35): Show c.634+16815_634+16830delATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	CTATATAT others(9): Show CTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00733.hp2 others(21): Show HG00140.hp2 HG00280.hp2 HG00733.hp2 HG01070.hp1 HG01081.hp1 HG01934.hp1 HG02145.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG03540.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18941.hp1 NA18993.hp1 NA19030.hp2 NA19087.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0007 a0002c0003 others(1): Show a0001c0002 a0001c0007 a0002c0003 a0003c0005	a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 others(7): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0047 a0001c0007t0021 a0002c0003t0011 a0003c0005t0004	a0001c0002t0004g0038 a0001c0002t0004g0117 a0001c0002t0004g0144 others(21): Show a0001c0002t0004g0038 a0001c0002t0004g0117 a0001c0002t0004g0144 a0001c0002t0004g0153 a0001c0002t0004g0158 a0001c0002t0007g0037 a0001c0002t0007g0126 a0001c0002t0007g0142 a0001c0002t0007g0189 a0001c0002t0008g0022 a0001c0002t0008g0035 a0001c0002t0008g0143 a0001c0002t0008g0216 a0001c0002t0008g0232 a0001c0002t0008g0237 a0001c0002t0009g0003 a0001c0002t0009g0056 a0001c0002t0011g0177 a0001c0002t0012g0036 a0001c0002t0047g0197 a0001c0007t0021g0030 a0002c0003t0011g0188 a0003c0005t0004g0077 a0003c0005t0004g0157	24	238	0.1008	-16	c.-29 others(35): Show c.-296-8361_-296-8346delTATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG02145.hp1 others(1): Show HG00280.hp2 HG00733.hp2 HG02145.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016	a0001c0002t0008g0035 a0001c0002t0008g0237 a0001c0002t0009g0003 others(1): Show a0001c0002t0008g0035 a0001c0002t0008g0237 a0001c0002t0009g0003 a0001c0002t0016g0173	4	238	0.0168	-16	c.-29 others(35): Show c.-297+2283_-297+2298delCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19612946	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01884.hp1 others(2): Show HG00738.hp1 HG01099.hp1 HG01884.hp1 HG03225.hp1 HG03471.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0002c0004 others(1): Show a0001c0002 a0002c0003 a0002c0004 a0005c0011	a0001c0002t0006 a0002c0003t0005 a0002c0004t0005 others(1): Show a0001c0002t0006 a0002c0003t0005 a0002c0004t0005 a0005c0011t0003	a0001c0002t0006g0047 a0002c0003t0005g0093 a0002c0004t0005g0015 others(2): Show a0001c0002t0006g0047 a0002c0003t0005g0093 a0002c0004t0005g0015 a0005c0011t0003g0180 a0005c0011t0003g0181	5	238	0.0210	-16	c.-39 others(37): Show c.-391-11097_-391-11082delTTTTTTTTTTTTTTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19630194	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02965.hp2 NA18522.hp1 others(2): Show HG02897.hp1 HG02965.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0017 a0002c0012 a0001c0002 a0001c0017 a0002c0012	a0001c0002t0016 a0001c0017t0023 a0002c0012t0042 a0001c0002t0016 a0001c0017t0023 a0002c0012t0042	a0001c0002t0016g0049 a0001c0002t0016g0162 a0001c0002t0016g0173 others(2): Show a0001c0002t0016g0049 a0001c0002t0016g0162 a0001c0002t0016g0173 a0001c0017t0023g0011 a0002c0012t0042g0091	5	238	0.0210	-16	c.-39 others(37): Show c.-391-28345_-391-28330delCACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19630228	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0219 a0002c0004t0013g0219	1	238	0.0042	-16	c.-39 others(37): Show c.-391-28379_-391-28364delTACACACACACACACA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666760	GAAGAAAG others(9): Show GAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG02055.hp2 others(2): Show HG00639.hp2 HG01069.hp2 HG02055.hp2 HG03831.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0005 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0005 a0002c0003t0011	a0001c0001t0001g0138 a0001c0002t0002g0009 a0001c0002t0002g0046 others(2): Show a0001c0001t0001g0138 a0001c0002t0002g0009 a0001c0002t0002g0046 a0002c0003t0005g0100 a0002c0003t0011g0092	5	238	0.0210	-16	c.-39 others(37): Show c.-391-64911_-391-64896delTCTTTCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666943	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03831.hp2 NA18942.hp1 others(3): Show HG02015.hp2 HG03831.hp2 NA18942.hp1 NA18984.hp2 NA19056.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0008 others(1): Show a0001c0001 a0002c0003 a0002c0008 a0004c0009	a0001c0001t0001 a0002c0003t0004 a0002c0008t0003 others(1): Show a0001c0001t0001 a0002c0003t0004 a0002c0008t0003 a0004c0009t0003	a0001c0001t0001g0138 a0002c0003t0004g0235 a0002c0008t0003g0140 others(3): Show a0001c0001t0001g0138 a0002c0003t0004g0235 a0002c0008t0003g0140 a0002c0008t0003g0155 a0002c0008t0003g0156 a0004c0009t0003g0215	6	238	0.0252	-16	c.-39 others(37): Show c.-391-65094_-391-65079delCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667008	AAAGAAAG others(9): Show AAAGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	238	0.0042	-16	c.-39 others(37): Show c.-391-65159_-391-65144delCCTTCCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667012	AAAGAAAG others(9): Show AAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	238	0.0042	-16	c.-39 others(37): Show c.-391-65163_-391-65148delCCTTCCTTCCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667016	AAAGGAAG others(9): Show AAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03486.hp1 HG03139.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0025 a0003c0005t0004 a0001c0002t0025 a0003c0005t0004	a0001c0002t0025g0001 a0003c0005t0004g0007 a0001c0002t0025g0001 a0003c0005t0004g0007	2	238	0.0084	-16	c.-39 others(37): Show c.-391-65167_-391-65152delCCTTCCTTCCTTCCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH2_chr17_63867016_63878677	63875552	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01516.hp2 HG01517.hp2 others(2): Show HG00544.hp2 HG01516.hp2 HG01517.hp2 NA18998.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0001g0001 a0001c0001t0002g0006	5	410	0.0122	-16	c.-19 others(27): Show c.-1954_-1939delGAAAGAAAGAAAGAAA	CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding		1876		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63912747	ATTTTAGT others(9): Show ATTTTAGTTTCTTTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA19240.hp1 HG01884.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0010 a0001c0006t0002g0010	2	438	0.0046	-16	c.-15 others(27): Show c.-1567_-1552delAAGAAAGAAACTAAAA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		1490		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63912753	GTTTCTTT others(9): Show GTTTCTTTCTTTCTTTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01884.hp2 HG02083.hp1 others(15): Show HG01358.hp2 HG01884.hp2 HG02083.hp1 HG02293.hp2 HG02486.hp2 HG02818.hp1 HG03098.hp1 HG03471.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18978.hp2 NA19054.hp1 NA19056.hp2 NA19068.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0002c0002 a0005c0012 others(2): Show a0001c0001 a0002c0002 a0005c0012 a0007c0011 a0008c0014	a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0002 a0005c0012t0001 a0007c0011t0001 a0008c0014t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0004g0017 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0004g0017 a0002c0002t0002g0002 a0005c0012t0001g0030 a0007c0011t0001g0029 a0008c0014t0002g0038	18	438	0.0411	-16	c.-15 others(27): Show c.-1573_-1558delGAAAGAAAGAAAGAAA	CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding		1496		chr17	TogoVar
CSMD1_chr8_2930361_4999914	2999726	TAAATGTG others(9): Show TAAATGTGGAGTCAGGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	-16	c.820 others(33): Show c.8203+216_8203+231delTCCTGACTCCACATTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	53/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083638	ATATATAT others(9): Show ATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20129.hp2 HG02280.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0111 a0003c0034 a0001c0111 a0003c0034	a0001c0111t0045 a0003c0034t0030 a0001c0111t0045 a0003c0034t0030	a0001c0111t0045g0063 a0003c0034t0030g0038 a0001c0111t0045g0063 a0003c0034t0030g0038	2	126	0.0159	-16	c.747 others(35): Show c.7474+3443_7474+3458delAAAAAATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083644	ATATATTT others(9): Show ATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0078 a0001c0019t0078	a0001c0019t0078g0105 a0001c0019t0078g0105	1	126	0.0079	-16	c.747 others(35): Show c.7474+3437_7474+3452delAAAAAAAAAAAATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182578	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp2 HG02572.hp1 HG03130.hp2	a0018 a0033 a0018 a0033	a0018c0044 a0033c0042 a0018c0044 a0033c0042	a0018c0044t0064 a0033c0042t0004 a0018c0044t0064 a0033c0042t0004	a0018c0044t0064g0085 a0033c0042t0004g0004 a0018c0044t0064g0085 a0033c0042t0004g0004	2	126	0.0159	-16	c.562 others(35): Show c.5621-1380_5621-1365delCACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0057 a0003c0058t0057	a0003c0058t0057g0117 a0003c0058t0057g0117	1	126	0.0079	-16	c.562 others(35): Show c.5621-1643_5621-1628delACACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3388896	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG02280.hp2 HG03098.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0034 a0001c0002 a0003c0034	a0001c0002t0028 a0003c0034t0030 a0001c0002t0028 a0003c0034t0030	a0001c0002t0028g0005 a0003c0034t0030g0038 a0001c0002t0028g0005 a0003c0034t0030g0038	2	126	0.0159	-16	c.259 others(35): Show c.2594-1230_2594-1215delGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	17/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3471481	GTTCCTTC others(9): Show GTTCCTTCCTTCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG01261.hp2 others(7): Show HG00735.hp1 HG01243.hp1 HG01261.hp2 HG02257.hp1 HG02683.hp1 HG02723.hp2 HG03669.hp2 HG04228.hp1 NA18522.hp2 NA18984.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0016 a0021	a0001c0001 a0001c0021 a0001c0059 others(6): Show a0001c0001 a0001c0021 a0001c0059 a0002c0072 a0005c0064 a0005c0065 a0007c0088 a0016c0063 a0021c0016	a0001c0001t0002 a0001c0001t0039 a0001c0021t0005 others(7): Show a0001c0001t0002 a0001c0001t0039 a0001c0021t0005 a0001c0059t0001 a0002c0072t0003 a0005c0064t0051 a0005c0065t0023 a0007c0088t0076 a0016c0063t0010 a0021c0016t0048	a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0021t0005g0012 others(7): Show a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0021t0005g0012 a0001c0059t0001g0036 a0002c0072t0003g0066 a0005c0064t0051g0078 a0005c0065t0023g0050 a0007c0088t0076g0057 a0016c0063t0010g0045 a0021c0016t0048g0106	10	126	0.0794	-16	c.144 others(35): Show c.1449-2673_1449-2658delGGAAAGAAGGAAGGAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	11/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3494554	TGATAGAT others(9): Show TGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01884.hp1 HG03017.hp2 others(4): Show HG01071.hp2 HG01884.hp1 HG03017.hp2 HG03098.hp2 HG03834.hp1 NA19240.hp2 NA20129.hp2	a0001 a0004 a0011 others(1): Show a0001 a0004 a0011 a0036	a0001c0045 a0001c0046 a0001c0047 others(4): Show a0001c0045 a0001c0046 a0001c0047 a0001c0111 a0004c0087 a0011c0110 a0036c0100	a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 others(4): Show a0001c0045t0012 a0001c0046t0073 a0001c0047t0014 a0001c0111t0045 a0004c0087t0001 a0011c0110t0074 a0036c0100t0017	a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 others(4): Show a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0111t0045g0063 a0004c0087t0001g0022 a0011c0110t0074g0082 a0036c0100t0017g0121	7	126	0.0556	-16	c.134 others(33): Show c.1345-844_1345-829delTATCTATCTATCTATC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3512524	CTGGTGGG others(9): Show CTGGTGGGCTGGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp2 HG02055.hp2 others(21): Show HG00438.hp2 HG01934.hp2 HG02055.hp2 HG02129.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03540.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0010 a0012 a0015 a0031 a0036	a0001c0003 a0001c0004 a0001c0019 others(21): Show a0001c0003 a0001c0004 a0001c0019 a0001c0061 a0001c0068 a0001c0080 a0001c0081 a0001c0103 a0001c0114 a0002c0015 a0002c0035 a0002c0036 a0002c0048 a0002c0070 a0002c0072 a0003c0057 a0004c0087 a0004c0099 a0005c0065 a0010c0112 a0012c0104 a0015c0062 a0031c0069 a0036c0100	a0001c0003t0013 a0001c0004t0020 a0001c0019t0078 others(21): Show a0001c0003t0013 a0001c0004t0020 a0001c0019t0078 a0001c0061t0001 a0001c0068t0015 a0001c0080t0040 a0001c0081t0037 a0001c0103t0033 a0001c0114t0003 a0002c0015t0021 a0002c0035t0047 a0002c0036t0029 a0002c0048t0013 a0002c0070t0046 a0002c0072t0003 a0003c0057t0080 a0004c0087t0001 a0004c0099t0014 a0005c0065t0023 a0010c0112t0081 a0012c0104t0071 a0015c0062t0056 a0031c0069t0043 a0036c0100t0017	a0001c0003t0013g0026 a0001c0004t0020g0086 a0001c0019t0078g0105 others(21): Show a0001c0003t0013g0026 a0001c0004t0020g0086 a0001c0019t0078g0105 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0103t0033g0028 a0001c0114t0003g0119 a0002c0015t0021g0008 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0048t0013g0015 a0002c0070t0046g0092 a0002c0072t0003g0066 a0003c0057t0080g0075 a0004c0087t0001g0022 a0004c0099t0014g0020 a0005c0065t0023g0050 a0010c0112t0081g0090 a0012c0104t0071g0058 a0015c0062t0056g0062 a0031c0069t0043g0100 a0036c0100t0017g0121	24	126	0.1905	-16	c.134 others(37): Show c.1345-18814_1345-18799delACCCACCAGCCCACCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3524371	GCACACAT others(9): Show GCACACATGCACATACA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0065 a0005c0065	a0005c0065t0023 a0005c0065t0023	a0005c0065t0023g0050 a0005c0065t0023g0050	1	126	0.0079	-16	c.134 others(37): Show c.1345-30661_1345-30646delTGTATGTGCATGTGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3524495	ACACACAT others(9): Show ACACACATGCACAGATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG03209.hp1 others(6): Show HG02559.hp1 HG02615.hp2 HG03209.hp1 HG03540.hp1 HG03710.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18982.hp2	a0001 a0002 a0027 others(1): Show a0001 a0002 a0027 a0034	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0020 a0002c0015 a0027c0023 a0034c0055	a0001c0001t0002 a0001c0004t0020 a0001c0004t0063 others(6): Show a0001c0001t0002 a0001c0004t0020 a0001c0004t0063 a0001c0005t0002 a0001c0006t0060 a0001c0020t0016 a0002c0015t0021 a0027c0023t0001 a0034c0055t0034	a0001c0001t0002g0125 a0001c0004t0020g0086 a0001c0004t0063g0095 others(6): Show a0001c0001t0002g0125 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0020t0016g0065 a0002c0015t0021g0008 a0027c0023t0001g0052 a0034c0055t0034g0047	9	126	0.0714	-16	c.134 others(37): Show c.1345-30785_1345-30770delCATCTGTGCATGTGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3548659	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0003 a0001c0114t0003	a0001c0114t0003g0119 a0001c0114t0003g0119	1	126	0.0079	-16	c.134 others(37): Show c.1344+26270_1344+26285delGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3609811	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02615.hp1 others(4): Show HG02451.hp1 HG02572.hp2 HG02615.hp1 HG03130.hp2 HG03516.hp2 HG03579.hp1 NA20129.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0007 a0017 a0018 a0026	a0001c0111 a0002c0051 a0006c0116 others(4): Show a0001c0111 a0002c0051 a0006c0116 a0007c0029 a0017c0106 a0018c0044 a0026c0082	a0001c0111t0045 a0002c0051t0006 a0006c0116t0004 others(4): Show a0001c0111t0045 a0002c0051t0006 a0006c0116t0004 a0007c0029t0011 a0017c0106t0012 a0018c0044t0064 a0026c0082t0052	a0001c0111t0045g0063 a0002c0051t0006g0081 a0006c0116t0004g0039 others(4): Show a0001c0111t0045g0063 a0002c0051t0006g0081 a0006c0116t0004g0039 a0007c0029t0011g0054 a0017c0106t0012g0042 a0018c0044t0064g0085 a0026c0082t0052g0097	7	126	0.0556	-16	c.109 others(35): Show c.1097+6883_1097+6898delAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	8/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671500	TATATATA others(9): Show TATATATATATATGATC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00735.hp1 others(9): Show HG00423.hp2 HG00438.hp2 HG00735.hp1 HG01071.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18979.hp2 NA19043.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0021 a0034	a0001c0001 a0001c0004 a0001c0021 others(9): Show a0001c0001 a0001c0004 a0001c0021 a0001c0080 a0001c0081 a0001c0093 a0002c0012 a0002c0041 a0002c0089 a0005c0065 a0021c0016 a0034c0055	a0001c0001t0002 a0001c0004t0063 a0001c0021t0005 others(9): Show a0001c0001t0002 a0001c0004t0063 a0001c0021t0005 a0001c0080t0040 a0001c0081t0037 a0001c0093t0009 a0002c0012t0017 a0002c0041t0027 a0002c0089t0001 a0005c0065t0023 a0021c0016t0048 a0034c0055t0034	a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0021t0005g0012 others(9): Show a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0021t0005g0012 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0093t0009g0007 a0002c0012t0017g0088 a0002c0041t0027g0018 a0002c0089t0001g0037 a0005c0065t0023g0050 a0021c0016t0048g0106 a0034c0055t0034g0047	12	126	0.0952	-16	c.100 others(37): Show c.1009+36898_1009+36913delGATCATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3684108	ATTATATA others(9): Show ATTATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00735.hp1 others(7): Show HG00423.hp2 HG00438.hp2 HG00735.hp1 HG02615.hp2 HG02723.hp2 HG03209.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA19043.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0021 a0034	a0001c0001 a0001c0004 a0001c0020 others(7): Show a0001c0001 a0001c0004 a0001c0020 a0001c0081 a0001c0093 a0002c0012 a0002c0089 a0005c0065 a0021c0016 a0034c0055	a0001c0001t0002 a0001c0004t0063 a0001c0020t0016 others(7): Show a0001c0001t0002 a0001c0004t0063 a0001c0020t0016 a0001c0081t0037 a0001c0093t0009 a0002c0012t0017 a0002c0089t0001 a0005c0065t0023 a0021c0016t0048 a0034c0055t0034	a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0020t0016g0065 others(7): Show a0001c0001t0002g0125 a0001c0004t0063g0095 a0001c0020t0016g0065 a0001c0081t0037g0030 a0001c0093t0009g0007 a0002c0012t0017g0088 a0002c0089t0001g0037 a0005c0065t0023g0050 a0021c0016t0048g0106 a0034c0055t0034g0047	10	126	0.0794	-16	c.100 others(37): Show c.1009+24290_1009+24305delATTATATATTATATAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3712394	GAGAGAGA others(9): Show GAGAGAGACAGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00735.hp1 others(22): Show HG00423.hp2 HG00438.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01261.hp2 HG01884.hp2 HG02056.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02647.hp2 HG02723.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG04204.hp1 HG06807.hp2 NA18979.hp2 NA18982.hp1 NA19043.hp1 NA19090.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0016 a0018 a0021 a0030 a0034 a0037	a0001c0002 a0001c0020 a0001c0047 others(22): Show a0001c0002 a0001c0020 a0001c0047 a0001c0068 a0001c0073 a0001c0080 a0001c0081 a0001c0093 a0001c0102 a0001c0115 a0002c0022 a0002c0041 a0002c0053 a0002c0074 a0002c0084 a0002c0089 a0004c0086 a0005c0065 a0005c0107 a0016c0063 a0018c0044 a0021c0016 a0030c0052 a0034c0055 a0037c0101	a0001c0002t0002 a0001c0020t0016 a0001c0047t0014 others(22): Show a0001c0002t0002 a0001c0020t0016 a0001c0047t0014 a0001c0068t0015 a0001c0073t0007 a0001c0080t0040 a0001c0081t0037 a0001c0093t0009 a0001c0102t0005 a0001c0115t0042 a0002c0022t0036 a0002c0041t0027 a0002c0053t0022 a0002c0074t0041 a0002c0084t0018 a0002c0089t0001 a0004c0086t0002 a0005c0065t0023 a0005c0107t0068 a0016c0063t0010 a0018c0044t0064 a0021c0016t0048 a0030c0052t0049 a0034c0055t0034 a0037c0101t0008	a0001c0002t0002g0083 a0001c0020t0016g0065 a0001c0047t0014g0024 others(22): Show a0001c0002t0002g0083 a0001c0020t0016g0065 a0001c0047t0014g0024 a0001c0068t0015g0049 a0001c0073t0007g0108 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0093t0009g0007 a0001c0102t0005g0034 a0001c0115t0042g0055 a0002c0022t0036g0048 a0002c0041t0027g0018 a0002c0053t0022g0041 a0002c0074t0041g0031 a0002c0084t0018g0087 a0002c0089t0001g0037 a0004c0086t0002g0118 a0005c0065t0023g0050 a0005c0107t0068g0073 a0016c0063t0010g0045 a0018c0044t0064g0085 a0021c0016t0048g0106 a0030c0052t0049g0098 a0034c0055t0034g0047 a0037c0101t0008g0023	25	126	0.1984	-16	c.932 others(33): Show c.932-3919_932-3904delGTCTGTCTGTCTCTCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3712430	CAGACAGA others(9): Show CAGACAGACAGACAGAG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0104 a0012c0104	a0012c0104t0071 a0012c0104t0071	a0012c0104t0071g0058 a0012c0104t0071g0058	1	126	0.0079	-16	c.932 others(33): Show c.932-3955_932-3940delCTCTGTCTGTCTGTCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3719223	CCAAGGTG others(9): Show CCAAGGTGTTCACCTTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0041 a0002c0074t0041	a0002c0074t0041g0031 a0002c0074t0041g0031	1	126	0.0079	-16	c.932 others(35): Show c.932-10748_932-10733delCAAGGTGAACACCTTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3729946	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp2 HG02559.hp1 others(9): Show HG01255.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG03130.hp1 HG03195.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0013 a0026 a0029	a0001c0001 a0001c0004 a0001c0021 others(9): Show a0001c0001 a0001c0004 a0001c0021 a0001c0026 a0001c0049 a0002c0032 a0002c0072 a0002c0084 a0010c0112 a0013c0027 a0026c0082 a0029c0028	a0001c0001t0002 a0001c0004t0020 a0001c0021t0005 others(9): Show a0001c0001t0002 a0001c0004t0020 a0001c0021t0005 a0001c0026t0006 a0001c0049t0002 a0002c0032t0050 a0002c0072t0003 a0002c0084t0018 a0010c0112t0081 a0013c0027t0003 a0026c0082t0052 a0029c0028t0024	a0001c0001t0002g0125 a0001c0004t0020g0086 a0001c0021t0005g0012 others(9): Show a0001c0001t0002g0125 a0001c0004t0020g0086 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0049t0002g0071 a0002c0032t0050g0061 a0002c0072t0003g0066 a0002c0084t0018g0087 a0010c0112t0081g0090 a0013c0027t0003g0099 a0026c0082t0052g0097 a0029c0028t0024g0040	12	126	0.0952	-16	c.932 others(35): Show c.932-21471_932-21456delGTTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772320	TGTACATA others(9): Show TGTACATATATTTAGAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG06807.hp1 HG01074.hp1 HG02055.hp1 HG06807.hp1	a0002 a0006 a0032 a0002 a0006 a0032	a0002c0035 a0006c0083 a0032c0011 a0002c0035 a0006c0083 a0032c0011	a0002c0035t0047 a0006c0083t0004 a0032c0011t0065 a0002c0035t0047 a0006c0083t0004 a0032c0011t0065	a0002c0035t0047g0076 a0006c0083t0004g0006 a0032c0011t0065g0101 a0002c0035t0047g0076 a0006c0083t0004g0006 a0032c0011t0065g0101	3	126	0.0238	-16	c.819 others(35): Show c.819-18294_819-18279delGTCTAAATATATGTAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3900529	GGGTGACA others(9): Show GGGTGACAGTGAAGCTA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG02451.hp1 others(10): Show HG01074.hp1 HG01123.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp1 HG03516.hp1 HG03516.hp2 NA18522.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0007 a0008 a0015 a0017 a0024 a0027 a0032 a0033	a0001c0026 a0002c0051 a0002c0078 others(10): Show a0001c0026 a0002c0051 a0002c0078 a0002c0084 a0003c0014 a0007c0029 a0008c0008 a0015c0062 a0017c0106 a0024c0038 a0027c0023 a0032c0011 a0033c0042	a0001c0026t0006 a0002c0051t0006 a0002c0078t0044 others(10): Show a0001c0026t0006 a0002c0051t0006 a0002c0078t0044 a0002c0084t0018 a0003c0014t0055 a0007c0029t0011 a0008c0008t0082 a0015c0062t0056 a0017c0106t0012 a0024c0038t0075 a0027c0023t0001 a0032c0011t0065 a0033c0042t0004	a0001c0026t0006g0093 a0002c0051t0006g0081 a0002c0078t0044g0064 others(10): Show a0001c0026t0006g0093 a0002c0051t0006g0081 a0002c0078t0044g0064 a0002c0084t0018g0087 a0003c0014t0055g0056 a0007c0029t0011g0054 a0008c0008t0082g0126 a0015c0062t0056g0062 a0017c0106t0012g0042 a0024c0038t0075g0067 a0027c0023t0001g0052 a0032c0011t0065g0101 a0033c0042t0004g0004	13	126	0.1032	-16	c.818 others(35): Show c.818+97358_818+97373delTAGCTTCACTGTCACC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4044749	CCACCCTG others(9): Show CCACCCTGGCCACATAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02622.hp1 others(3): Show HG02451.hp2 HG02572.hp1 HG02622.hp1 HG03225.hp1 NA18906.hp1 NA19240.hp1	a0001 a0002 a0029 others(1): Show a0001 a0002 a0029 a0033	a0001c0017 a0001c0085 a0002c0030 others(3): Show a0001c0017 a0001c0085 a0002c0030 a0002c0032 a0029c0028 a0033c0042	a0001c0017t0005 a0001c0085t0020 a0002c0030t0016 others(3): Show a0001c0017t0005 a0001c0085t0020 a0002c0030t0016 a0002c0032t0050 a0029c0028t0024 a0033c0042t0004	a0001c0017t0005g0003 a0001c0085t0020g0060 a0002c0030t0016g0122 others(3): Show a0001c0017t0005g0003 a0001c0085t0020g0060 a0002c0030t0016g0122 a0002c0032t0050g0061 a0029c0028t0024g0040 a0033c0042t0004g0004	6	126	0.0476	-16	c.416 others(35): Show c.416-12666_416-12651delCTATGTGGCCAGGGTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4078891	TAATAAAT others(9): Show TAATAAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0032 a0032	a0032c0011 a0032c0011	a0032c0011t0065 a0032c0011t0065	a0032c0011t0065g0101 a0032c0011t0065g0101	1	126	0.0079	-16	c.416 others(35): Show c.416-46808_416-46793delTATATATATATTTATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4115964	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp2 HG01261.hp2 others(4): Show HG00735.hp2 HG01255.hp2 HG01261.hp2 HG02622.hp1 HG03098.hp2 NA18522.hp2 NA18979.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0016	a0001c0049 a0001c0073 a0002c0030 others(4): Show a0001c0049 a0001c0073 a0002c0030 a0002c0036 a0002c0072 a0011c0110 a0016c0063	a0001c0049t0002 a0001c0073t0007 a0002c0030t0016 others(4): Show a0001c0049t0002 a0001c0073t0007 a0002c0030t0016 a0002c0036t0029 a0002c0072t0003 a0011c0110t0074 a0016c0063t0010	a0001c0049t0002g0071 a0001c0073t0007g0108 a0002c0030t0016g0122 others(4): Show a0001c0049t0002g0071 a0001c0073t0007g0108 a0002c0030t0016g0122 a0002c0036t0029g0009 a0002c0072t0003g0066 a0011c0110t0074g0082 a0016c0063t0010g0045	7	126	0.0556	-16	c.416 others(35): Show c.416-83881_416-83866delTAAATAAATAAATAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4138044	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03098.hp1 HG03017.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0061 a0001c0002t0028 a0001c0002t0061	a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0002t0028g0005 a0001c0002t0061g0069	2	126	0.0159	-16	c.416 others(37): Show c.416-105961_416-105946delAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4236026	GTTTTTTT others(9): Show GTTTTTTTTGTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0115 a0001c0115	a0001c0115t0042 a0001c0115t0042	a0001c0115t0042g0055 a0001c0115t0042g0055	1	126	0.0079	-16	c.415 others(37): Show c.415+183911_415+183926delAAACAAACAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4303420	CTGTTTTT others(9): Show CTGTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0018 a0018	a0018c0044 a0018c0044	a0018c0044t0064 a0018c0044t0064	a0018c0044t0064g0085 a0018c0044t0064g0085	1	126	0.0079	-16	c.415 others(37): Show c.415+116517_415+116532delAAAAAAAAAAAAAACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4332552	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02257.hp2 others(12): Show HG01243.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02622.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03710.hp1 NA18522.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0013 a0014 a0027 a0031 a0033	a0001c0006 a0001c0017 a0001c0033 others(12): Show a0001c0006 a0001c0017 a0001c0033 a0001c0111 a0001c0114 a0002c0030 a0002c0075 a0003c0014 a0005c0064 a0006c0083 a0013c0027 a0014c0010 a0027c0023 a0031c0069 a0033c0042	a0001c0006t0060 a0001c0017t0005 a0001c0033t0003 others(12): Show a0001c0006t0060 a0001c0017t0005 a0001c0033t0003 a0001c0111t0045 a0001c0114t0003 a0002c0030t0016 a0002c0075t0026 a0003c0014t0055 a0005c0064t0051 a0006c0083t0004 a0013c0027t0003 a0014c0010t0070 a0027c0023t0001 a0031c0069t0043 a0033c0042t0004	a0001c0006t0060g0103 a0001c0017t0005g0003 a0001c0033t0003g0059 others(12): Show a0001c0006t0060g0103 a0001c0017t0005g0003 a0001c0033t0003g0059 a0001c0111t0045g0063 a0001c0114t0003g0119 a0002c0030t0016g0122 a0002c0075t0026g0051 a0003c0014t0055g0056 a0005c0064t0051g0078 a0006c0083t0004g0006 a0013c0027t0003g0099 a0014c0010t0070g0084 a0027c0023t0001g0052 a0031c0069t0043g0100 a0033c0042t0004g0004	15	126	0.1191	-16	c.415 others(35): Show c.415+87385_415+87400delGTGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446739	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0058 a0003c0058	a0003c0058t0057 a0003c0058t0057	a0003c0058t0057g0117 a0003c0058t0057g0117	1	126	0.0079	-16	c.303 others(35): Show c.303-26690_303-26675delGACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446755	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0022 a0022	a0022c0013 a0022c0013	a0022c0013t0007 a0022c0013t0007	a0022c0013t0007g0112 a0022c0013t0007g0112	1	126	0.0079	-16	c.303 others(35): Show c.303-26706_303-26691delCACACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar

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