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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CSF2RA_chrX_1263814_1314935	1298077	A A	ACAGTCCC others(16): Show ACAGTCCCCTACCCATGACCCCTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01175.hp1 others(22): Show HG00423.hp1 HG01106.hp1 HG01175.hp1 HG01346.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02273.hp1 HG02273.hp2 HG02683.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18966.hp2 NA18975.hp2 NA18984.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp1 NA19063.hp1 NA19080.hp2 NA19082.hp1 NA19091.hp2 NA20905.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0006c0022 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0004 a0001c0015t0003 a0006c0022t0004 a0011c0021t0004	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0078 a0001c0001t0003g0001 a0001c0001t0003g0087 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0114 a0001c0001t0004g0159 a0001c0001t0008g0120 a0001c0002t0004g0037 a0001c0002t0004g0042 a0001c0002t0004g0058 a0001c0015t0003g0081 a0006c0022t0004g0073 a0011c0021t0004g0074	25	159	0.1572	23	c.811 others(40): Show c.811-2414_811-2413insCAGTCCCCTACCCATGACCCCTG		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12						chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298077	A A	ACAGTCTC others(16): Show ACAGTCTCCTACCCATGACCCCTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	159	0.0063	23	c.811 others(40): Show c.811-2414_811-2413insCAGTCTCCTACCCATGACCCCTG		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12						chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298525	T T	TCTCCTAC others(16): Show TCTCCTACCCATGACCCCTGGCAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01175.hp1 others(22): Show HG00423.hp1 HG01106.hp1 HG01175.hp1 HG01346.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02273.hp1 HG02273.hp2 HG02683.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18966.hp2 NA18975.hp2 NA18984.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp1 NA19063.hp1 NA19080.hp2 NA19082.hp1 NA19091.hp2 NA20905.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0006c0022 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0004 a0001c0015t0003 a0006c0022t0004 a0011c0021t0004	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(22): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0078 a0001c0001t0003g0001 a0001c0001t0003g0087 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0114 a0001c0001t0004g0159 a0001c0001t0008g0120 a0001c0002t0004g0037 a0001c0002t0004g0042 a0001c0002t0004g0058 a0001c0015t0003g0081 a0006c0022t0004g0073 a0011c0021t0004g0074	25	159	0.1572	23	c.811 others(40): Show c.811-1966_811-1965insCTCCTACCCATGACCCCTGGCAG		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12						chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298572	C C	CCCTACTC others(16): Show CCCTACTCACGACCCCTACAGTCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03041.hp1 others(1): Show HG01891.hp1 HG02809.hp1 HG03041.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0002c0003t0005 a0001c0001t0002 a0002c0003t0002 a0002c0003t0005	a0001c0001t0002g0031 a0002c0003t0002g0005 a0002c0003t0005g0010 others(1): Show a0001c0001t0002g0031 a0002c0003t0002g0005 a0002c0003t0005g0010 a0002c0003t0005g0137	4	159	0.0252	23	c.811 others(40): Show c.811-1914_811-1913insTCACGACCCCTACAGTCTCCTAC		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF3R_chr1_36461043_36487913	36464059	A A	ATCTCCCC others(16): Show ATCTCCCCTACTCCTGTGCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00609.hp1 others(81): Show HG00099.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02258.hp2 HG02273.hp2 HG02523.hp2 HG02615.hp1 HG02738.hp2 HG02809.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp1 HG03540.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18989.hp1 NA18993.hp1 NA18998.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0002t0001g0027 a0001c0003t0001g0119 a0001c0012t0001g0180 a0001c0013t0001g0182	84	420	0.2000	23	c.22 others(34): Show c.2275_*2297dupAGGAAGCACAGGAGTAGGGGAGA		CSF3R	ENSG00000119535.20	transcript	ENST00000373106.6	protein_coding					1983		chr1	TogoVar
CSGALNACT1_chr8_19399161_19762277	19485759	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04204.hp1 HG02622.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0047 a0001c0007t0021 a0001c0002t0047 a0001c0007t0021	a0001c0002t0047g0197 a0001c0007t0021g0030 a0001c0002t0047g0197 a0001c0007t0021g0030	2	238	0.0084	23	c.634 others(42): Show c.634+19419_634+19441dupAAAAAAAAAAAAAAAAAAAAAAA		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03669.hp1 NA19030.hp1 HG02055.hp1 HG03669.hp1 NA19030.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0014c0013 a0001c0001 a0001c0002 a0014c0013	a0001c0001t0002 a0001c0002t0006 a0014c0013t0004 a0001c0001t0002 a0001c0002t0006 a0014c0013t0004	a0001c0001t0002g0204 a0001c0002t0006g0045 a0014c0013t0004g0220 a0001c0001t0002g0204 a0001c0002t0006g0045 a0014c0013t0004g0220	3	238	0.0126	23	c.-29 others(44): Show c.-296-35446_-296-35424dupAAAAAAAAAAAAAAAAAAAAAAA		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19577401	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03471.hp1 HG00738.hp1 HG03471.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0011 a0002c0004 a0005c0011	a0002c0004t0005 a0005c0011t0003 a0002c0004t0005 a0005c0011t0003	a0002c0004t0005g0015 a0005c0011t0003g0181 a0002c0004t0005g0015 a0005c0011t0003g0181	2	238	0.0084	23	c.-29 others(44): Show c.-297+24369_-297+24370insTTTTTTTTTTTTTTTTTTTTTTT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8						chr8	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(16): Show TTCTTTCTTTCTTTCTTTCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	23	c.-16 others(34): Show c.-1634_-1633insGAAGAGAAAGAAAGAAAGAAAGA		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898195	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	23	c.-16 others(34): Show c.-1685_-1684insGAAAGAAAGAAAGAAAGAAAGAA		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1622		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(16): Show TTTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0137 a0001c0008t0004g0137	1	394	0.0025	23	c.-66 others(40): Show c.-66+3294_-66+3295insTTTTTTTTTGTGTGTGTGTGTGT		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03098.hp2 NA18954.hp1 HG02132.hp2 HG03098.hp2 NA18954.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0004 a0001c0005t0005 a0001c0004t0004 a0001c0005t0005	a0001c0004t0004g0149 a0001c0005t0005g0055 a0001c0005t0005g0056 a0001c0004t0004g0149 a0001c0005t0005g0055 a0001c0005t0005g0056	3	394	0.0076	23	c.-66 others(40): Show c.-66+3294_-66+3295insTTTTTTTTTTTGTGTGTGTGTGT		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03669.hp1 HG01934.hp2 HG03669.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0099 a0001c0006 a0004c0099	a0001c0006t0002 a0004c0099t0014 a0001c0006t0002 a0004c0099t0014	a0001c0006t0002g0109 a0004c0099t0014g0020 a0001c0006t0002g0109 a0004c0099t0014g0020	2	126	0.0159	23	c.591 others(42): Show c.5914+2515_5914+2537dupAAAAAAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0070 a0014c0010t0070	a0014c0010t0070g0084 a0014c0010t0070g0084	1	126	0.0079	23	c.156 others(44): Show c.1561+29402_1561+29403insATATATATATATATATATATATA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0050 a0002c0032t0050	a0002c0032t0050g0061 a0002c0032t0050g0061	1	126	0.0079	23	c.156 others(44): Show c.1561+29402_1561+29403insAAAAAAATATATATATATATATA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0109 a0001c0006t0002g0109	1	126	0.0079	23	c.932 others(40): Show c.932-1212_932-1190dupAAAAAAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796024	T T	TATAGATA others(16): Show TATAGATATAGATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18971.hp1 HG02886.hp1 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0039 a0002c0077 a0001c0039 a0002c0077	a0001c0039t0066 a0002c0077t0001 a0001c0039t0066 a0002c0077t0001	a0001c0039t0066g0080 a0002c0077t0001g0016 a0001c0039t0066g0080 a0002c0077t0001g0016	2	126	0.0159	23	c.819 others(42): Show c.819-42005_819-41983dupGATAGATATATATCTATATCTAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796289	G G	GATATAGA others(16): Show GATATAGATATCTATCATGTATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18906.hp2 HG00735.hp2 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0073 a0008c0067 a0001c0073 a0008c0067	a0001c0073t0007 a0008c0067t0059 a0001c0073t0007 a0008c0067t0059	a0001c0073t0007g0108 a0008c0067t0059g0079 a0001c0073t0007g0108 a0008c0067t0059g0079	2	126	0.0159	23	c.819 others(42): Show c.819-42248_819-42247insGTATACATGATAGATATCTATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796341	T T	TATATCTA others(16): Show TATATCTATCATGTATAGATATAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	23	c.819 others(42): Show c.819-42322_819-42300dupCTATATCTATACATGATAGATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838534	A A	ACTCTCTG others(16): Show ACTCTCTGTAGATATATATATAGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp2 NA18984.hp1 HG02615.hp2 HG03540.hp2 NA18984.hp1	a0001 a0009 a0001 a0009	a0001c0004 a0001c0059 a0009c0113 a0001c0004 a0001c0059 a0009c0113	a0001c0004t0063 a0001c0059t0001 a0009c0113t0011 a0001c0004t0063 a0001c0059t0001 a0009c0113t0011	a0001c0004t0063g0095 a0001c0059t0001g0036 a0009c0113t0011g0043 a0001c0004t0063g0095 a0001c0059t0001g0036 a0009c0113t0011g0043	3	126	0.0238	23	c.819 others(42): Show c.819-84493_819-84492insACTATATATATATCTACAGAGAG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926092	C C	CACACACA others(16): Show CACACACACACAAACACCATACAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0010 a0010	a0010c0112 a0010c0112	a0010c0112t0081 a0010c0112t0081	a0010c0112t0081g0090 a0010c0112t0081g0090	1	126	0.0079	23	c.818 others(42): Show c.818+71810_818+71811insATGTATGGTGTTTGTGTGTGTGT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTATTTA others(16): Show TTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0019 a0001c0040t0019	a0001c0040t0019g0123 a0001c0040t0019g0123	1	126	0.0079	23	c.415 others(42): Show c.415+29455_415+29456insTAAATAAATAAATAAATAAATAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTTTTTA others(16): Show TTTTTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp2 HG02257.hp1 others(11): Show HG00099.hp2 HG01261.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG03098.hp1 HG03225.hp1 HG03669.hp2 HG04228.hp2 HG06807.hp2 NA18983.hp2 NA19060.hp1 NA19090.hp1 NA19240.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0016 a0029	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0017 a0001c0068 a0001c0085 a0001c0102 a0001c0105 a0002c0012 a0002c0075 a0007c0088 a0016c0063 a0029c0028	a0001c0001t0039 a0001c0002t0028 a0001c0005t0007 others(11): Show a0001c0001t0039 a0001c0002t0028 a0001c0005t0007 a0001c0007t0001 a0001c0017t0005 a0001c0068t0015 a0001c0085t0020 a0001c0102t0005 a0001c0105t0001 a0002c0012t0017 a0002c0075t0026 a0007c0088t0076 a0016c0063t0010 a0029c0028t0024	a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0005t0007g0070 others(11): Show a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0005t0007g0070 a0001c0007t0001g0035 a0001c0017t0005g0003 a0001c0068t0015g0049 a0001c0085t0020g0060 a0001c0102t0005g0034 a0001c0105t0001g0029 a0002c0012t0017g0088 a0002c0075t0026g0051 a0007c0088t0076g0057 a0016c0063t0010g0045 a0029c0028t0024g0040	14	126	0.1111	23	c.415 others(42): Show c.415+29455_415+29456insTAAATAAATAAATAAATAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4441095	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG04204.hp1 HG00735.hp1 HG04204.hp1	a0021 a0034 a0021 a0034	a0021c0016 a0034c0055 a0021c0016 a0034c0055	a0021c0016t0048 a0034c0055t0034 a0021c0016t0048 a0034c0055t0034	a0021c0016t0048g0106 a0034c0055t0034g0047 a0021c0016t0048g0106 a0034c0055t0034g0047	2	126	0.0159	23	c.303 others(42): Show c.303-21053_303-21031dupAAAAAAAAAAAAAAAAAAAAAAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4444346	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0070 a0014c0010t0070	a0014c0010t0070g0084 a0014c0010t0070g0084	1	126	0.0079	23	c.303 others(42): Show c.303-24304_303-24282dupTTTTTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764885	A A	ACAAAAAA others(16): Show ACAAAAAAAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp2 others(17): Show HG00099.hp2 HG00423.hp2 HG00438.hp2 HG01081.hp1 HG01261.hp2 HG01934.hp1 HG02056.hp2 HG02280.hp1 HG02647.hp1 HG02683.hp1 HG03669.hp1 HG03710.hp1 HG04204.hp2 HG04228.hp2 NA18971.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp2 NA19060.hp1 NA19074.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0016 a0019 a0039	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0021 a0001c0059 a0001c0071 a0001c0081 a0001c0090 a0001c0105 a0002c0012 a0002c0053 a0002c0077 a0002c0089 a0003c0058 a0016c0063 a0019c0018 a0039c0009	a0001c0001t0002 a0001c0003t0019 a0001c0005t0007 others(17): Show a0001c0001t0002 a0001c0003t0019 a0001c0005t0007 a0001c0006t0002 a0001c0006t0060 a0001c0007t0001 a0001c0021t0005 a0001c0059t0001 a0001c0071t0069 a0001c0081t0037 a0001c0090t0001 a0001c0105t0001 a0002c0012t0017 a0002c0053t0022 a0002c0077t0001 a0002c0089t0001 a0003c0058t0057 a0016c0063t0010 a0019c0018t0058 a0039c0009t0001	a0001c0001t0002g0102 a0001c0003t0019g0107 a0001c0005t0007g0070 others(17): Show a0001c0001t0002g0102 a0001c0003t0019g0107 a0001c0005t0007g0070 a0001c0006t0002g0109 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0021t0005g0012 a0001c0059t0001g0036 a0001c0071t0069g0115 a0001c0081t0037g0030 a0001c0090t0001g0027 a0001c0105t0001g0029 a0002c0012t0017g0088 a0002c0053t0022g0041 a0002c0077t0001g0016 a0002c0089t0001g0037 a0003c0058t0057g0117 a0016c0063t0010g0045 a0019c0018t0058g0068 a0039c0009t0001g0002	20	126	0.1587	23	c.86- others(42): Show c.86-127328_86-127327insGTTTTGTTTTGTTTTTTTTTTTG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02723.hp2 NA18906.hp2 HG01069.hp1 HG02723.hp2 NA18906.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0044 a0003c0037 a0005c0015 a0001c0044 a0003c0037 a0005c0015	a0001c0044t0002 a0003c0037t0007 a0005c0015t0001 a0001c0044t0002 a0003c0037t0007 a0005c0015t0001	a0001c0044t0002g0026 a0003c0037t0007g0038 a0005c0015t0001g0021 a0001c0044t0002g0026 a0003c0037t0007g0038 a0005c0015t0001g0021	3	66	0.0455	23	c.404 others(42): Show c.404+12048_404+12049insATATATTTTTTTTTTTTTTTTTT		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70						chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270363	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0035 a0002c0005t0001g0035	1	80	0.0125	23	c.950 others(42): Show c.9509-4774_9509-4773insTCACCCCTAACACACACACACAC		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70						chr8	TogoVar
CSMD3_chr8_112217928_113441939	112405213	C C	CATATATA others(16): Show CATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG03516.hp1 HG02717.hp1 HG03041.hp2 HG03516.hp1	a0005 a0013 a0005 a0013	a0005c0012 a0005c0013 a0013c0026 a0005c0012 a0005c0013 a0013c0026	a0005c0012t0001 a0005c0013t0001 a0013c0026t0001 a0005c0012t0001 a0005c0013t0001 a0013c0026t0001	a0005c0012t0001g0038 a0005c0013t0001g0039 a0013c0026t0001g0057 a0005c0012t0001g0038 a0005c0013t0001g0039 a0013c0026t0001g0057	3	80	0.0375	23	c.580 others(42): Show c.5809+1310_5809+1311insCATATATATATATATATATATAT		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70						chr8	TogoVar
CSNK1E_chr22_38285691_38322433	38303548	C C	CAGACCAC others(16): Show CAGACCACCTAAGGGAGGGGGCTG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0145 a0001c0001t0051g0145	1	412	0.0024	23	c.77- others(36): Show c.77-323_77-301dupCAGCCCCCTCCCTTAGGTGGTCT		CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding	2/10						chr22	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	176	0.0057	23	c.293 others(42): Show c.293-13212_293-13190dupAAAAAAAAAAAAAAAAAAAAAAA		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11						chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0112 a0001c0001t0007g0112	1	176	0.0057	23	c.292 others(42): Show c.292+12993_292+12994insATATATATATATATATATTTTTT		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11						chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64238518	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0173 a0001c0001t0026g0173	1	176	0.0057	23	c.292 others(42): Show c.292+12993_292+12994insATATATATATATATATATATATA		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11						chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1939438	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01516.hp1 HG01928.hp1 others(1): Show HG01169.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0175 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0175 a0001c0001t0001g0215 a0001c0001t0001g0229	4	382	0.0105	23	c.-22 others(34): Show c.-2246_-2245insTTTTTTTTTTTTTTTTTTTTTTT		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding					1733		chr19	TogoVar
CSNK2A1_chr20_467498_548790	485101	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0166 a0001c0001t0004g0166	1	316	0.0032	23	c.106 others(42): Show c.1061-1026_1061-1025insATATATATATATATATATATATA		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485103	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0230 a0001c0001t0009g0230	1	316	0.0032	23	c.106 others(42): Show c.1061-1028_1061-1027insATATATATATATATATATATATA		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485105	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	316	0.0032	23	c.106 others(42): Show c.1061-1030_1061-1029insATATATATATATATATATATATA		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp1 HG01346.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0243 a0001c0001t0016g0025 a0001c0001t0004g0243 a0001c0001t0016g0025	2	316	0.0063	23	c.106 others(42): Show c.1061-1034_1061-1033insATATATATATATATATATATTTT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	316	0.0032	23	c.106 others(42): Show c.1061-1034_1061-1033insATATATATATATATATATATATT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0081 a0001c0001t0070g0081	1	316	0.0032	23	c.106 others(42): Show c.1061-1034_1061-1033insATATATATATATATATATATATA		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNK2A1_chr20_467498_548790	523858	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0093 a0001c0004t0093	a0001c0004t0093g0004 a0001c0004t0093g0004	1	316	0.0032	23	c.-11 others(42): Show c.-110+4052_-110+4074dupTTTTTTTTTTTTTTTTTTTTTTT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	2/13						chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58171979	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp2 NA19060.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0215 a0001c0001t0001g0102 a0001c0001t0001g0215	2	400	0.0050	23	c.429 others(40): Show c.429+2471_429+2472insATATATATATATATATATATATA		CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11						chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58171980	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02155.hp1 NA19012.hp2 HG02109.hp1 HG02155.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0223 a0001c0001t0001g0291 a0001c0001t0001g0295	3	400	0.0075	23	c.429 others(40): Show c.429+2470_429+2471insTATATATATATATATATATATAT		CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	5/11						chr16	TogoVar
CSPP1_chr8_67059392_67201614	67159956	T T	TTTCTTTT others(16): Show TTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03225.hp2 NA20752.hp1 HG01978.hp2 HG03225.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0064	3	158	0.0190	23	c.253 others(40): Show c.2538+819_2538+820insTTCTTTTCTTTTCTTTTCTTTTC		CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30						chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165666542	A A	AAAGAGAG others(16): Show AAAGAGAGAGGAAAACAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	246	0.0041	23	c.408 others(40): Show c.408+8523_408+8524insAGAGAGAGGAAAACAGAAAGAGA		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTF1_chr20_56387645_56411362	56404812	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02717.hp2 HG02723.hp2 others(6): Show HG01109.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0020 a0001c0001t0050 a0001c0001t0011 a0001c0001t0020 a0001c0001t0050	a0001c0001t0011g0001 a0001c0001t0011g0028 a0001c0001t0011g0033 others(3): Show a0001c0001t0011g0001 a0001c0001t0011g0028 a0001c0001t0011g0033 a0001c0001t0011g0043 a0001c0001t0020g0010 a0001c0001t0050g0086	9	422	0.0213	23	c.10 others(34): Show c.1089_*1111dupTTTTTTTTTTTTTTTTTTTTTTT		CSTF1	ENSG00000101138.12	transcript	ENST00000217109.9	protein_coding	6/6				1112	INFO_REALIGN_3_PRIME	chr20	TogoVar
CSTPP1_chr11_46931761_47167247	47039443	C C	CAGAGGGA others(16): Show CAGAGGGAGACCGTGGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	224	0.0045	23	c.150 others(42): Show c.150-12929_150-12907dupAGAGAGGGAGAGGGAGACCGTGG		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47101164	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	224	0.0045	23	c.281 others(42): Show c.281-36478_281-36456dupTTTTTTTTTTTTTTTTTTTTTTT		CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
CT45A5_chrX_135770852_135790503	135786663	A A	AGAAAGAA others(16): Show AGAAAGAAAGAAAGAAAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	177	0.0057	23	c.-14 others(34): Show c.-1434_-1433insCTCTCTCTTTCTTTCTTTCTTTC		CT45A5	ENSG00000228836.9	transcript	ENST00000698999.1	protein_coding					1161		chrX	TogoVar
CTBP2_chr10_124979317_125033071	125027267	A A	ACAGGTGA others(16): Show ACAGGTGACCGGCGTCCTGCAGGG	frameshift_variant frameshift_variant	HIGH	HG00597.hp2 HG00597.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0002 a0017c0022t0002	a0017c0022t0002g0157 a0017c0022t0002g0157	1	380	0.0026	23	c.470 others(30): Show c.470_492dupCCCTGCAGGACGCCGGTCACCTG	p.Tyr others(5): Show p.Tyr165fs	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	1/9	804/8471	492/2958	164/985			chr10	TogoVar

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