Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPLX1_chr4_779957_831129	826426	GGCGGGGG others(31): Show GGCGGGGGCGGGGGGCGGGGGCGGGGGCGGGGGGTGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG06807.hp2 HG01106.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0357 a0001c0001t0009g0359 a0001c0001t0003g0357 a0001c0001t0009g0359	2	416	0.0048	-38	c.-49 others(47): Show c.-498_-461delGTCCACCCCCCGCCCCCGCCCCCGCCCCCCGCCCCC GC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		298		chr4	TogoVar
CPNE4_chr3_131528569_132040014	131615889	TCTCACAC others(31): Show TCTCACACACACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01496.hp1 HG01884.hp1 others(21): Show HG01069.hp1 HG01496.hp1 HG01884.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02895.hp2 HG02896.hp2 HG03041.hp2 HG03195.hp1 HG04199.hp1 HG04228.hp1 NA18906.hp2 NA18939.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18971.hp2 NA18982.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0003t0016 a0001c0004t0002	a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0027 others(21): Show a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0002t0001g0006 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0011g0094 a0001c0003t0001g0033 a0001c0003t0003g0045 a0001c0003t0016g0092 a0001c0004t0002g0081	24	94	0.2553	-38	c.682 others(57): Show c.682-28345_682-28308delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGAG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89590776	GGGGGCCG others(31): Show GGGGGCCGGGGACGGGGGGAGCAGCTGACTGGGGGACAT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	348	0.0029	-38	c.111 others(55): Show c.1117-226_1117-189delCCGGGGACGGGGGGAGCAGCTGACTGGG GGACATGGGG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89590789	GGGGGGAG others(31): Show GGGGGGAGCAGCTGACTGGGGGACATGGGGGCCGGGGAC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	348	0.0029	-38	c.111 others(55): Show c.1117-212_1117-175delAGCAGCTGACTGGGGGACATGGGGGCCG GGGACGGGGG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPQ_chr8_96640242_97148501	96717024	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	126	0.0079	-38	c.-34 others(57): Show c.-34-67824_-34-67787delTATATATATATATATATATATATATA TATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96880518	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19030.hp1 NA20300.hp1 NA18522.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0114 a0001c0002t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0114	3	126	0.0238	-38	c.849 others(53): Show c.849+535_849+572delTATATATATATATATATATATATATATATA TATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CRACDL_chr2_98788846_98941225	98930288	GTCCCCAC others(31): Show GTCCCCACCCTCTGTACCGTGTCCCCTACCCCATCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02965.hp1 HG01081.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0206 a0001c0001t0001g0079 a0001c0001t0001g0206	2	316	0.0063	-38	c.-11 others(55): Show c.-11+5612_-11+5649delTGGGGATGGGGTAGGGGACACGGTACAG AGGGTGGGGA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACR2A_chr12_3610328_3758109	3747904	TTCCACAG others(31): Show TTCCACAGGCTCAGGGGTACACCCAGAAGGGCACAGAGC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	320	0.0031	-38	c.-38 others(57): Show c.-387+5073_-387+5110delGCTCTGTGCCCTTCTGGGTGTACCCC TGAGCCTGTGGA	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	1/19			chr12	TogoVar
CREB3L1_chr11_46272662_46326409	46297471	GGGGAGGG others(31): Show GGGGAGGGTCTGCTGCAGTTGTAAAAGACTGGACAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(88): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01243.hp1 HG01256.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18971.hp2 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19068.hp2 NA19082.hp1 NA19084.hp2 NA19090.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0002c0002t0002 a0005c0005t0002 a0007c0009t0002	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0033 others(73): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0210 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0002g0251 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0071 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0091 a0001c0001t0003g0099 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0149 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0244 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0253 a0001c0001t0010g0141 a0001c0001t0015g0087 a0001c0001t0018g0246 a0002c0002t0002g0001 a0002c0002t0002g0027 a0002c0002t0002g0031 a0002c0002t0002g0113 a0002c0002t0002g0211 a0002c0002t0002g0222 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0238 a0002c0002t0002g0242 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0250 a0002c0002t0002g0252 a0005c0005t0002g0085 a0005c0005t0002g0086 a0005c0005t0002g0255 a0007c0009t0002g0236	91	304	0.2993	-38	c.103 others(55): Show c.103-2459_103-2422delGGGTCTGCTGCAGTTGTAAAAGACTGGA CAGTGAGGGA	CREB3L1	ENSG00000157613.11	transcript	ENST00000621158.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
CREB3L2_chr7_137869979_138007086	137922400	ATATATAT others(31): Show ATATATATATATATATGTATATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp2 HG02055.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0009 a0001c0004t0031g0111 a0001c0004t0031g0009 a0001c0004t0031g0111	2	288	0.0069	-38	c.319 others(55): Show c.319+5712_319+5749delCGTATATATATATATATATATACATATA TATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137972730	TATATATA others(31): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19043.hp1 HG01884.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0020 a0001c0004t0067 a0001c0001t0020 a0001c0004t0067	a0001c0001t0020g0277 a0001c0004t0067g0286 a0001c0001t0020g0277 a0001c0004t0067g0286	2	288	0.0069	-38	c.102 others(57): Show c.102+28836_102+28873delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATAT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CRELD2_chr22_49913634_49932537	49922256	TAGTCAGG others(31): Show TAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00642.hp2 others(33): Show HG00438.hp1 HG00597.hp1 HG00642.hp2 HG01123.hp1 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02056.hp2 HG02559.hp2 HG02717.hp2 HG02897.hp2 HG02976.hp1 HG03239.hp1 HG03704.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18952.hp1 NA18967.hp2 NA18971.hp1 NA18974.hp1 NA18980.hp2 NA18989.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19007.hp1 NA19012.hp1 NA19065.hp2 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0003c0017	a0001c0001t0001 a0002c0002t0001 a0002c0005t0005 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0005 a0003c0004t0002 a0003c0004t0007 a0003c0004t0009 a0003c0017t0002	a0001c0001t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0134 others(16): Show a0001c0001t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0134 a0002c0005t0005g0128 a0003c0004t0002g0002 a0003c0004t0002g0033 a0003c0004t0002g0034 a0003c0004t0002g0152 a0003c0004t0002g0153 a0003c0004t0002g0178 a0003c0004t0002g0179 a0003c0004t0002g0180 a0003c0004t0002g0181 a0003c0004t0002g0183 a0003c0004t0002g0184 a0003c0004t0002g0185 a0003c0004t0007g0176 a0003c0004t0009g0182 a0003c0017t0002g0177	36	324	0.1111	-38	c.593 others(53): Show c.593-327_593-290delGCCCCTCAGCAGTCAGGACCGGCCTCTCCG ATTCTTAC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49922287	CCCTCAGC others(31): Show CCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG01884.hp2 others(29): Show HG00741.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03486.hp2 HG03942.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp1 NA18950.hp2 NA18966.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0002c0005 others(3): Show a0001c0007 a0002c0002 a0002c0005 a0002c0012 a0002c0014 a0002c0015	a0001c0007t0002 a0002c0002t0001 a0002c0002t0005 others(4): Show a0001c0007t0002 a0002c0002t0001 a0002c0002t0005 a0002c0005t0002 a0002c0012t0001 a0002c0014t0002 a0002c0015t0002	a0001c0007t0002g0170 a0001c0007t0002g0171 a0001c0007t0002g0172 others(22): Show a0001c0007t0002g0170 a0001c0007t0002g0171 a0001c0007t0002g0172 a0001c0007t0002g0173 a0002c0002t0001g0012 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0005g0027 a0002c0002t0005g0129 a0002c0005t0002g0015 a0002c0005t0002g0186 a0002c0005t0002g0187 a0002c0005t0002g0188 a0002c0005t0002g0189 a0002c0012t0001g0125 a0002c0012t0001g0126 a0002c0014t0002g0191 a0002c0015t0002g0190	32	324	0.0988	-38	c.593 others(53): Show c.593-321_593-284delCAGCAGTCAGGACCGGCCTCTCCGATTCTT ACCCGCCT	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRIP2_chr14_105469821_105485162	105482564	TCCAAGGT others(31): Show TCCAAGGTATCCCCCACTCCAACCTGGGCTGGTGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0211 a0001c0001t0005g0211	1	316	0.0032	-38	c.29 others(49): Show c.2912_*2949delCCAAGGTATCCCCCACTCCAACCTGGGCTGGTGG GGCC	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding		2403		chr14	TogoVar
CRYBA4_chr22_26616963_26635669	26627388	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02622.hp2 HG00609.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0287 a0001c0001t0001g0157 a0001c0001t0001g0287	2	402	0.0050	-38	c.301 others(53): Show c.301-879_301-842delTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361512	CTTACAGA others(31): Show CTTACAGATGTTATACCCCCATTCTCCTCGCAACATACG	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0005 a0003c0002t0005g0005	1	272	0.0037	-38	c.173 others(53): Show c.173+432_173+469delTTACAGATGTTATACCCCCATTCTCCTCGC AACATACG	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21			chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106433735	ACATATAT others(31): Show ACATATATATGTATATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0229 a0007c0007t0003g0229	1	272	0.0037	-38	c.174 others(57): Show c.174-17958_174-17921delCATATATATGTATATATATATGTGTA TATATATATATG	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21			chr6	TogoVar
CRYL1_chr13_20398669_20530857	20523755	AAGCAGAG others(31): Show AAGCAGAGGCCCCAGAGAATTATGTGGTCCTTAAAGTTT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	250	0.0040	-38	c.41+ others(53): Show c.41+1961_41+1998delAAACTTTAAGGACCACATAATTCTCTGGGG CCTCTGCT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	1/7			chr13	TogoVar
CSF2RA_chrX_1263814_1314935	1314231	ACCTGCCC others(31): Show ACCTGCCCAACCCCACTGCACCTGCCCAACCCCACTGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	159	0.0063	-38	c.47 others(49): Show c.4753_*4790delCCTGCCCAACCCCACTGCACCTGCCCAACCCCAC TGCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4297		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314281	CCACTGCA others(31): Show CCACTGCATCTGCCCAACCACTCTGTGCCTGCCCAACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02976.hp2 HG02559.hp1 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0009 a0001c0005t0005g0136 a0001c0005t0005g0009 a0001c0005t0005g0136	2	159	0.0126	-38	c.48 others(49): Show c.4803_*4840delCACTGCATCTGCCCAACCACTCTGTGCCTGCCCA ACCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4347		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314344	CGCCTGCC others(31): Show CGCCTGCCCAACCCCACTGCATCTGCCCAACCACTCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	159	0.0063	-38	c.48 others(49): Show c.4866_*4903delGCCTGCCCAACCCCACTGCATCTGCCCAACCACT CTGT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4410		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314598	CCAACCCC others(31): Show CCAACCCCACTGCACCTGCCCAACCACACTGAACCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0019 a0002c0003 a0002c0019	a0002c0003t0005 a0002c0019t0002 a0002c0003t0005 a0002c0019t0002	a0002c0003t0005g0146 a0002c0019t0002g0006 a0002c0003t0005g0146 a0002c0019t0002g0006	2	159	0.0126	-38	c.51 others(49): Show c.5120_*5157delCAACCCCACTGCACCTGCCCAACCACACTGAACC TGCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4664		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314622	CACACTGA others(31): Show CACACTGAACCTGCTCAACCCCACTTCACCTGCCCAACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0132 a0001c0002t0004g0132	1	159	0.0063	-38	c.51 others(49): Show c.5144_*5181delACACTGAACCTGCTCAACCCCACTTCACCTGCCC AACT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4688		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314670	TTGCCCAA others(31): Show TTGCCCAACCCCTCTGTGCCTGCCCAACCCCACTGTGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02922.hp2 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0009 a0001c0001t0013 a0001c0002t0009	a0001c0001t0013g0004 a0001c0002t0009g0011 a0001c0001t0013g0004 a0001c0002t0009g0011	2	159	0.0126	-38	c.51 others(49): Show c.5192_*5229delTGCCCAACCCCTCTGTGCCTGCCCAACCCCACTG TGCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4736		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314697	CCCCACTG others(31): Show CCCCACTGTGCCTGCCCAATCGCACTGCACCTGCCCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0134	1	159	0.0063	-38	c.52 others(49): Show c.5219_*5256delCCCACTGTGCCTGCCCAATCGCACTGCACCTGCC CAAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4763		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314794	CCACTGCA others(31): Show CCACTGCACCTGCCCAACCCCACTGTGCCTGCCCAACCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	159	0.0063	-38	c.53 others(49): Show c.5316_*5353delCACTGCACCTGCCCAACCCCACTGTGCCTGCCCA ACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4860		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314820	GCCTGCCC others(31): Show GCCTGCCCAACCGCACTGCACCTGCCCAATCCCACTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG00140.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0148 a0001c0001t0003g0133 a0001c0001t0003g0148	2	159	0.0126	-38	c.53 others(49): Show c.5342_*5379delCCTGCCCAACCGCACTGCACCTGCCCAATCCCAC TGCA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4886		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314864	CCAACCGC others(31): Show CCAACCGCACTGCACCTGCCCAACCACACTGAACCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG01169.hp1 others(10): Show HG00408.hp1 HG01070.hp1 HG01169.hp1 HG01175.hp2 HG01978.hp2 HG01981.hp1 HG02165.hp1 HG02897.hp2 HG03491.hp2 NA18982.hp1 NA19087.hp1 NA19091.hp2 NA20300.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0009c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0002c0003t0002 a0002c0003t0004 a0002c0004t0004 a0009c0013t0003	a0001c0001t0001g0121 a0001c0001t0003g0090 a0001c0001t0003g0113 others(10): Show a0001c0001t0001g0121 a0001c0001t0003g0090 a0001c0001t0003g0113 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0065 a0001c0001t0004g0159 a0001c0001t0008g0120 a0002c0003t0002g0030 a0002c0003t0002g0145 a0002c0003t0004g0088 a0002c0004t0004g0023 a0009c0013t0003g0153	13	159	0.0818	-38	c.53 others(49): Show c.5386_*5423delCAACCGCACTGCACCTGCCCAACCACACTGAACC TGCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4930		chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666777	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01192.hp1 NA20752.hp2 HG01099.hp2 HG01192.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0007 a0001c0007t0039 a0001c0001t0001 a0001c0002t0007 a0001c0007t0039	a0001c0001t0001g0040 a0001c0002t0007g0037 a0001c0007t0039g0041 a0001c0001t0001g0040 a0001c0002t0007g0037 a0001c0007t0039g0041	3	238	0.0126	-38	c.-39 others(59): Show c.-391-64950_-391-64913delCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666781	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	238	0.0042	-38	c.-39 others(59): Show c.-391-64954_-391-64917delCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666789	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0093 a0002c0003t0005g0093	1	238	0.0042	-38	c.-39 others(59): Show c.-391-64962_-391-64925delCTCTCTCTCTCTCTCTCTTTCTTT CTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666793	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp2 HG00438.hp1 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0002g0217 a0001c0001t0001g0137 a0001c0001t0002g0217	2	238	0.0084	-38	c.-39 others(59): Show c.-391-64966_-391-64929delCTCTCTCTCTCTCTCTCTCTCTTT CTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3660480	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01934.hp2 HG02257.hp1 others(8): Show HG01243.hp2 HG01934.hp2 HG02257.hp1 HG02615.hp1 HG03130.hp2 HG03516.hp2 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA19060.hp2 NA19074.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0007 a0008 a0017 a0018 a0026 a0035	a0001c0001 a0001c0090 a0002c0048 others(7): Show a0001c0001 a0001c0090 a0002c0048 a0004c0099 a0007c0088 a0008c0067 a0017c0106 a0018c0044 a0026c0082 a0035c0098	a0001c0001t0002 a0001c0090t0001 a0002c0048t0013 others(7): Show a0001c0001t0002 a0001c0090t0001 a0002c0048t0013 a0004c0099t0014 a0007c0088t0076 a0008c0067t0059 a0017c0106t0012 a0018c0044t0064 a0026c0082t0052 a0035c0098t0025	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0090t0001g0027 others(8): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0090t0001g0027 a0002c0048t0013g0015 a0004c0099t0014g0020 a0007c0088t0076g0057 a0008c0067t0059g0079 a0017c0106t0012g0042 a0018c0044t0064g0085 a0026c0082t0052g0097 a0035c0098t0025g0019	11	126	0.0873	-38	c.101 others(59): Show c.1010-43721_1010-43684delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772524	CACATATA others(31): Show CACATATATACATATATACACATATATACATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02965.hp2 HG01243.hp1 HG02257.hp1 HG02965.hp2	a0005 a0007 a0038 a0005 a0007 a0038	a0005c0064 a0007c0088 a0038c0066 a0005c0064 a0007c0088 a0038c0066	a0005c0064t0051 a0007c0088t0076 a0038c0066t0010 a0005c0064t0051 a0007c0088t0076 a0038c0066t0010	a0005c0064t0051g0078 a0007c0088t0076g0057 a0038c0066t0010g0032 a0005c0064t0051g0078 a0007c0088t0076g0057 a0038c0066t0010g0032	3	126	0.0238	-38	c.819 others(57): Show c.819-18520_819-18483delATGTATATATGTATATATGTGTATAT ATGTATATATGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795288	TCATGTAC others(31): Show TCATGTACAGATATATATATCTATCATGTACAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0115 a0001c0115	a0001c0115t0042 a0001c0115t0042	a0001c0115t0042g0055 a0001c0115t0042g0055	1	126	0.0079	-38	c.819 others(57): Show c.819-41284_819-41247delCTATATCTGTACATGATAGATATATA TATCTGTACATG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795364	TATATAGA others(31): Show TATATAGATATATATCATGTATAGATATAGATATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01081.hp1 others(10): Show HG00099.hp1 HG01071.hp1 HG01081.hp1 HG01261.hp2 HG02055.hp2 HG02129.hp1 HG02559.hp2 HG02622.hp2 HG02723.hp2 HG02922.hp2 HG03139.hp1 HG03669.hp2 NA19030.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0010 a0016 a0019 a0028 a0031	a0001c0001 a0001c0019 a0001c0043 others(10): Show a0001c0001 a0001c0019 a0001c0043 a0001c0103 a0002c0041 a0002c0074 a0003c0057 a0005c0065 a0010c0112 a0016c0063 a0019c0018 a0028c0097 a0031c0069	a0001c0001t0039 a0001c0019t0078 a0001c0043t0031 others(10): Show a0001c0001t0039 a0001c0019t0078 a0001c0043t0031 a0001c0103t0033 a0002c0041t0027 a0002c0074t0041 a0003c0057t0080 a0005c0065t0023 a0010c0112t0081 a0016c0063t0010 a0019c0018t0058 a0028c0097t0018 a0031c0069t0043	a0001c0001t0039g0017 a0001c0019t0078g0105 a0001c0043t0031g0044 others(10): Show a0001c0001t0039g0017 a0001c0019t0078g0105 a0001c0043t0031g0044 a0001c0103t0033g0028 a0002c0041t0027g0018 a0002c0074t0041g0031 a0003c0057t0080g0075 a0005c0065t0023g0050 a0010c0112t0081g0090 a0016c0063t0010g0045 a0019c0018t0058g0068 a0028c0097t0018g0089 a0031c0069t0043g0100	13	126	0.1032	-38	c.819 others(57): Show c.819-41360_819-41323delGATAGATATCTATATCTATACATGAT ATATATCTATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4565749	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0019 a0019	a0019c0018 a0019c0018	a0019c0018t0058 a0019c0018t0058	a0019c0018t0058g0068 a0019c0018t0058g0068	1	126	0.0079	-38	c.302 others(57): Show c.302+71555_302+71592delATATATATATATATATATATATATAT ATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920894	AAGAAAAG others(31): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0114 a0001c0114	a0001c0114t0003 a0001c0114t0003	a0001c0114t0003g0119 a0001c0114t0003g0119	1	126	0.0079	-38	c.85+ others(55): Show c.85+73400_85+73437delCTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33989013	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01071.hp1 others(9): Show HG00438.hp1 HG00438.hp2 HG01071.hp1 HG01074.hp1 HG02055.hp2 HG02080.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0006 a0008 a0011 a0012 a0017 a0024 a0025	a0001c0001 a0001c0047 a0003c0037 others(9): Show a0001c0001 a0001c0047 a0003c0037 a0004c0034 a0004c0049 a0006c0016 a0008c0022 a0011c0039 a0012c0028 a0017c0052 a0024c0014 a0025c0011	a0001c0001t0001 a0001c0047t0001 a0003c0037t0007 others(9): Show a0001c0001t0001 a0001c0047t0001 a0003c0037t0007 a0004c0034t0015 a0004c0049t0009 a0006c0016t0004 a0008c0022t0001 a0011c0039t0014 a0012c0028t0007 a0017c0052t0003 a0024c0014t0002 a0025c0011t0001	a0001c0001t0001g0062 a0001c0047t0001g0031 a0003c0037t0007g0038 others(9): Show a0001c0001t0001g0062 a0001c0047t0001g0031 a0003c0037t0007g0038 a0004c0034t0015g0015 a0004c0049t0009g0012 a0006c0016t0004g0034 a0008c0022t0001g0060 a0011c0039t0014g0014 a0012c0028t0007g0041 a0017c0052t0003g0040 a0024c0014t0002g0059 a0025c0011t0001g0004	12	66	0.1818	-38	c.517 others(57): Show c.517+43543_517+43580delATATATATATATATATATATATATAT ATATATATATAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	34102611	GATCCAAC others(31): Show GATCCAACCATATCCCTGTAATCCGGCCATATCCCTGTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02809.hp2 others(6): Show HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 NA19043.hp1	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0007 a0014 a0028 a0029 a0030 a0031	a0002c0027 a0003c0048 a0004c0031 others(6): Show a0002c0027 a0003c0048 a0004c0031 a0007c0025 a0014c0036 a0028c0010 a0029c0009 a0030c0008 a0031c0007	a0002c0027t0003 a0003c0048t0006 a0004c0031t0004 others(6): Show a0002c0027t0003 a0003c0048t0006 a0004c0031t0004 a0007c0025t0001 a0014c0036t0002 a0028c0010t0017 a0029c0009t0018 a0030c0008t0004 a0031c0007t0002	a0002c0027t0003g0045 a0003c0048t0006g0032 a0004c0031t0004g0005 others(6): Show a0002c0027t0003g0045 a0003c0048t0006g0032 a0004c0031t0004g0005 a0007c0025t0001g0042 a0014c0036t0002g0044 a0028c0010t0017g0064 a0029c0009t0018g0065 a0030c0008t0004g0001 a0031c0007t0002g0002	9	66	0.1364	-38	c.188 others(57): Show c.188-13456_188-13419delTACAGGGATATGGCCGGATTACAGGG ATATGGTTGGAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70			chr1	TogoVar
CSNK1A1_chr5_149487982_149556439	149542602	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01496.hp1 HG01934.hp1 others(5): Show HG00099.hp2 HG01496.hp1 HG01934.hp1 HG01993.hp1 HG02976.hp1 HG03130.hp1 HG03516.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013	a0001c0001t0003g0224 a0001c0001t0003g0326 a0001c0001t0004g0234 others(5): Show a0001c0001t0003g0224 a0001c0001t0003g0326 a0001c0001t0004g0234 a0001c0001t0004g0243 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0008g0123 a0001c0001t0013g0241	8	390	0.0205	-38	c.230 others(55): Show c.230+7435_230+7472delCATATATATATATATATATATATATATA TATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542634	ATATATGT others(31): Show ATATATGTATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19006.hp2 HG04204.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0086 a0001c0001t0001g0109	2	390	0.0051	-38	c.230 others(55): Show c.230+7403_230+7440delCATATATATATATATATATATATATATA TATACATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542658	ATATATAT others(31): Show ATATATATATATATGTATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0078 a0001c0001t0017g0078	1	390	0.0026	-38	c.230 others(55): Show c.230+7379_230+7416delAAAATATATATATATATATATATACATA TATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1959755	GTGGGTCC others(31): Show GTGGGTCCCCCAGCACCCGTCCCACCTTTAGTGCCACCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18971.hp2 NA20129.hp2 HG02055.hp2 NA18971.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0054 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0054	3	382	0.0079	-38	c.-26 others(57): Show c.-265-9734_-265-9697delTCCCACCTTTAGTGCCACCCTGGGTC CCCCAGCACCCG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CSNK2B_chr6_31661080_31675067	31669754	GTGGGGAG others(31): Show GTGGGGAGGTGGGAATGCAGGTGACTGGCAGGGCCTGGA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	421	0.0024	-38	c.558 others(51): Show c.558-76_558-39delAGGTGGGAATGCAGGTGACTGGCAGGGCCTGG ATGGGG	CSNK2B	ENSG00000204435.15	transcript	ENST00000375882.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CST6_chr11_66007008_66018505	66018395	ACCTCCAG others(31): Show ACCTCCAGGCCTTGATCTAAGCTGTTCCTCCAACCGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	414	0.0024	-38	c.49 others(49): Show c.4996_*5033delCCTCCAGGCCTTGATCTAAGCTGTTCCTCCAACC GCCT	CST6	ENSG00000175315.3	transcript	ENST00000312134.3	protein_coding		4891		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163899	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	360	0.0028	-38	c.-26 others(49): Show c.-2612_-2575delAAAAAAAAAAAATATATATATATATATATATATA TATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2420		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163901	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp2 NA18940.hp1 others(3): Show HG00099.hp1 HG01167.hp2 NA18940.hp1 NA18942.hp1 NA18985.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0160 a0001c0001t0003g0007 a0001c0001t0003g0116 others(3): Show a0001c0001t0002g0160 a0001c0001t0003g0007 a0001c0001t0003g0116 a0001c0001t0003g0128 a0001c0001t0003g0164 a0001c0001t0003g0179	6	360	0.0167	-38	c.-26 others(49): Show c.-2614_-2577delAAAAAAAAAAAAAATATATATATATATATATATA TATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2422		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163903	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18966.hp2 NA18979.hp1 others(1): Show NA18944.hp2 NA18966.hp2 NA18979.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0003g0142 others(1): Show a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0003g0142 a0001c0001t0003g0187	4	360	0.0111	-38	c.-26 others(49): Show c.-2616_-2579delAAAAAAAAAAAAAAAATATATATATATATATATA TATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2424		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163905	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01884.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG01884.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0106 a0001c0003t0002g0014 a0001c0003t0002g0024 a0001c0001t0002g0106 a0001c0003t0002g0014 a0001c0003t0002g0024	4	360	0.0111	-38	c.-26 others(49): Show c.-2618_-2581delAAAAAAAAAAAAAAAAAATATATATATATATATA TATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2426		chr11	TogoVar

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