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 per page.

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
C3orf70_chr3_185071838_185158060	185134125	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0013 a0001c0001t0123g0013	1	388	0.0026	46	c.196 others(65): Show c.196+18502_196+18503insAGTATATATATATATATATATATATA TATATATATATATATATATA	C3orf70	ENSG00000187068.3	transcript	ENST00000335012.3	protein_coding	1/1			chr3	TogoVar
C4BPB_chr1_207083860_207104993	207085621	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	388	0.0026	46	c.-33 others(57): Show c.-3376_-3375insATATATATATATATATATATATATATATATATAT ATATATATATAA	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding		3238		chr1	TogoVar
C7orf31_chr7_25129692_25185354	25160257	T T	TTCCATTA others(39): Show TTCCATTATTAATAAAGTTCCATTATATAATAAATAATGGAACTTAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp1 others(79): Show HG00140.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18942.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18969.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA18997.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp2 NA19090.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0002 a0005 a0011 others(3): Show a0002 a0005 a0011 a0018 a0027 a0028	a0002c0002 a0005c0010 a0011c0013 others(3): Show a0002c0002 a0005c0010 a0011c0013 a0018c0019 a0027c0024 a0028c0026	a0002c0002t0001 a0002c0002t0010 a0002c0002t0012 others(7): Show a0002c0002t0001 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0019 a0005c0010t0002 a0011c0013t0002 a0018c0019t0007 a0027c0024t0001 a0028c0026t0001	a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0014 others(61): Show a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0025 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0081 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0163 a0002c0002t0010g0155 a0002c0002t0012g0142 a0002c0002t0013g0138 a0002c0002t0019g0312 a0005c0010t0002g0121 a0011c0013t0002g0125 a0011c0013t0002g0128 a0011c0013t0002g0139 a0011c0013t0002g0140 a0018c0019t0007g0310 a0018c0019t0007g0311 a0027c0024t0001g0110 a0028c0026t0001g0115	82	416	0.1971	46	c.383 others(61): Show c.383+931_383+932insTTAAGTTCCATTATTTATTATATAATGGAA CTTTATTAATAATGGA	C7orf31	ENSG00000153790.12	transcript	ENST00000283905.8	protein_coding	4/9			chr7	TogoVar
C7orf50_chr7_992006_1143247	1060001	T T	TTAGTGGG others(39): Show TTAGTGGGGCGGGTCTGTAGTGGGGCGGGTCTTAGTGGGGCGGGTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG01891.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	2	326	0.0061	46	c.130 others(65): Show c.130-49859_130-49858insGGACCCGCCCCACTAAGACCCGCCCC ACTACAGACCCGCCCCACTA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116528	T T	TTCTAGGA others(39): Show TTCTAGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGAAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0160 a0001c0001t0007g0160	1	326	0.0031	46	c.129 others(65): Show c.129+10728_129+10729insGCTTCATCATCCTGCGTGGGCGTCGG TGATGGAAGCCGGTCCTAGA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127627	T T	TGTCACCC others(39): Show TGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02735.hp1 NA18747.hp2 others(3): Show HG01069.hp2 HG02735.hp1 NA18747.hp2 NA19055.hp2 NA19081.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0039 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0005g0297	6	326	0.0184	46	c.-1- others(59): Show c.-1-242_-1-241insGGTGAGATGAGCTGAGATCGCGCCACTGCACT CCAGCCTGGGTGAC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127839	A A	AATCTCGG others(39): Show AATCTCGGCTCATCCCACCATCACCCGGGCTGGAGTGCAGTGGCGCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	326	0.0031	46	c.-1- others(59): Show c.-1-454_-1-453insGGCGCCACTGCACTCCAGCCCGGGTGATGGTG GGATGAGCCGAGAT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1128637	T T	TCACCGTC others(39): Show TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0100 a0001c0001t0016g0100	1	326	0.0031	46	c.-1- others(61): Show c.-1-1252_-1-1251insGGATGAGCCGAGATGGCGCCACTGCACTCC AGCCCGGGTGACGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129061	C C	CCACCGTC others(39): Show CCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	326	0.0031	46	c.-1- others(61): Show c.-1-1676_-1-1675insAGATGAGCCGAGATCGTGCCACTGCACTCC AGCCCGGGTGACGGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129145	A A	AGCTCATC others(39): Show AGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	326	0.0031	46	c.-1- others(61): Show c.-1-1760_-1-1759insCGAGATTGTGCCACTGCACTCCAGCCCGGG TGACGGTGAGATGAGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129367	G G	ACCATCTC others(39): Show ACCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0297 a0001c0001t0005g0297	1	326	0.0031	46	c.-1- others(61): Show c.-1-1981_-1-1980insGCCACTGCACTCCAGCCCGGGTGACGGTGG GATGAGCCGAGATGGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTCCT others(39): Show TCCTTCCTTCCTTCCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0341 a0002c0001t0002g0341	1	404	0.0025	46	c.606 others(61): Show c.606-891_606-890insCCTTCCTTCCTTCCTTTTCTCTTCTCTTCT CTTCTCTTCTCTTCTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
CA10_chr17_51625320_52163714	51717791	G G	GTATATGT others(39): Show GTATATGTGTATATATGTATACATGTATATATACATATATACACATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02273.hp1 HG01099.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0126 a0001c0002t0001g0060 a0001c0002t0001g0126	2	156	0.0128	46	c.465 others(65): Show c.465+29841_465+29842insTATGTGTATATATGTATATATACATG TATACATATATACACATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51839503	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAGCAAGACTCCTTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp2 HG02630.hp1 others(3): Show HG01099.hp2 HG02109.hp2 HG02630.hp1 HG02896.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0069 a0001c0001t0001g0137 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0002g0014 a0001c0001t0002g0109 a0001c0001t0004g0146	6	156	0.0385	46	c.279 others(65): Show c.279+91486_279+91487insGAGAAGGAGTCTTGCTTCCTTTTTTT TTTTTTTTTTTTTTTTTTTT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(39): Show TTATATATATATATATACATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	156	0.0064	46	c.137 others(65): Show c.137-11407_137-11406insTATATATATATATATATATATATATA TATGTATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02818.hp1 HG04115.hp2 others(1): Show HG00438.hp2 HG02818.hp1 HG04115.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0052 a0001c0001t0002g0062 a0001c0001t0002g0075 others(1): Show a0001c0001t0002g0052 a0001c0001t0002g0062 a0001c0001t0002g0075 a0001c0002t0001g0053	4	156	0.0256	46	c.137 others(65): Show c.137-11407_137-11406insTATATATATATATATATATATATATA TATATATATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA6_chr1_8940868_8980092	8955611	A A	ACCTTCCA others(39): Show ACCTTCCACGCCTCCTTTTAAGGCCCTTCCACGCCTCCTTTTAAGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01257.hp1 others(31): Show HG00544.hp1 HG00609.hp2 HG01257.hp1 HG01346.hp2 HG01952.hp1 HG02004.hp2 HG02083.hp2 HG02129.hp1 HG02273.hp2 HG02451.hp1 HG02602.hp1 HG02630.hp1 HG02895.hp1 HG03486.hp1 HG03704.hp2 NA18952.hp1 NA18955.hp1 NA18977.hp1 NA18979.hp1 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19009.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0009	a0001c0002 a0002c0001 a0005c0005 others(2): Show a0001c0002 a0002c0001 a0005c0005 a0006c0004 a0009c0010	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0005c0005t0001 a0006c0004t0001 a0009c0010t0001	a0001c0002t0001g0008 a0001c0002t0001g0171 a0001c0002t0001g0258 others(30): Show a0001c0002t0001g0008 a0001c0002t0001g0171 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0321 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0356 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0362 a0001c0002t0002g0351 a0002c0001t0001g0127 a0002c0001t0001g0348 a0005c0005t0001g0099 a0006c0004t0001g0142 a0006c0004t0001g0143 a0006c0004t0001g0145 a0006c0004t0001g0190 a0009c0010t0001g0307 a0009c0010t0001g0308 a0009c0010t0001g0309 a0009c0010t0001g0310 a0009c0010t0001g0311 a0009c0010t0001g0427	34	452	0.0752	46	c.260 others(63): Show c.260-1522_260-1521insCCACGCCTCCTTTTAAGGCCCTTCCACG CCTCCTTTTAAGGCCCTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0033	1	372	0.0027	46	c.666 others(65): Show c.666-11415_666-11414insATATATATATATATATATATATATAT ATATATATATATATATATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CABCOCO1_chr10_61657929_61771766	61680652	T T	TTATGTTA others(39): Show TTATGTTATACATGTATAACATATATATGTTATACATGTATAACATA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0216 a0001c0001t0005g0216	1	374	0.0027	46	c.165 others(61): Show c.165-466_165-465insATGTTATACATGTATAACATATATGTTATA CATGTATAACATATAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACFD1_chr9_133454978_133475848	133460459	A A	AGGGCGGG others(39): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01975.hp2 HG01981.hp2 others(3): Show HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02148.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0011 a0001c0001t0010g0011 a0001c0001t0002g0011 a0001c0001t0010g0011	6	420	0.0143	46	c.121 others(61): Show c.121+298_121+299insGGCGGCGGGGGCGGGGGGGGGGGCGGGGGG GCGGCGGGGGCGGGGG	CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1A_chr19_13201442_13511479	13413881	G G	GAAAAGAA others(39): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0051 a0001c0020t0001g0051	1	218	0.0046	46	c.539 others(65): Show c.539+38994_539+38995insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2462244	A A	ACCTCGGC others(39): Show ACCTCGGCTCAGCTCTCCATACAGGCCCGCACACTTCCTCGGCACCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0098 a0001c0005t0002g0098	1	104	0.0096	46	c.757 others(63): Show c.757+4564_757+4565insCGCACACTTCCTCGGCACCCCCTCGGCT CAGCTCTCCATACAGGCC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	5/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1E_chr1_181478517_181813084	181795767	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18968.hp2 HG03195.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0048 a0001c0001t0005 a0001c0001t0048	a0001c0001t0005g0089 a0001c0001t0048g0054 a0001c0001t0005g0089 a0001c0001t0048g0054	2	206	0.0097	46	c.620 others(63): Show c.6208+743_6208+744insATATATATATATATATATATATATATAT ATATATATATATATATAT	CACNA1E	ENSG00000198216.14	transcript	ENST00000367573.7	protein_coding	46/47		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185655	T T	TGTGTAGG others(39): Show TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0008 a0016c0026t0008	a0016c0026t0008g0279 a0016c0026t0008g0279	1	338	0.0030	46	c.300 others(63): Show c.300-9316_300-9315insTGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185756	G G	GGCGTGCG others(39): Show GGCGTGCGTAGGGGCCGAAGGCGGGGTACGTGGGGGGCGGGTGAGTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG03195.hp1 others(3): Show HG02965.hp1 HG02965.hp2 HG03195.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0002 a0003 a0046 others(1): Show a0002 a0003 a0046 a0061	a0002c0011 a0002c0025 a0003c0133 others(2): Show a0002c0011 a0002c0025 a0003c0133 a0046c0096 a0061c0080	a0002c0011t0001 a0002c0011t0005 a0002c0025t0001 others(3): Show a0002c0011t0001 a0002c0011t0005 a0002c0025t0001 a0003c0133t0004 a0046c0096t0001 a0061c0080t0001	a0002c0011t0001g0225 a0002c0011t0005g0273 a0002c0025t0001g0226 others(3): Show a0002c0011t0001g0225 a0002c0011t0005g0273 a0002c0025t0001g0226 a0003c0133t0004g0046 a0046c0096t0001g0105 a0061c0080t0001g0227	6	338	0.0178	46	c.300 others(63): Show c.300-9215_300-9214insCGTGCGTAGGGGCCGAAGGCGGGGTACG TGGGGGGCGGGTGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185756	G G	GGCGTGCG others(39): Show GGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	338	0.0030	46	c.300 others(63): Show c.300-9215_300-9214insCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185764	T T	TGCGTAGG others(39): Show TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0056 a0008c0056	a0008c0056t0038 a0008c0056t0038	a0008c0056t0038g0224 a0008c0056t0038g0224	1	338	0.0030	46	c.300 others(63): Show c.300-9181_300-9180insCGGGGCGGGTGAGTAGACGGCGTAGGGG CCGGAGGCGGGGTGTGTA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39601953	C C	CCCTCCTT others(39): Show CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18906.hp1 NA19043.hp1 others(1): Show HG02145.hp2 NA18906.hp1 NA19043.hp1 NA20129.hp2	a0003 a0020 a0003 a0020	a0003c0005 a0003c0017 a0020c0042 a0003c0005 a0003c0017 a0020c0042	a0003c0005t0053 a0003c0017t0005 a0020c0042t0005 a0003c0005t0053 a0003c0017t0005 a0020c0042t0005	a0003c0005t0053g0142 a0003c0017t0005g0088 a0003c0017t0005g0089 others(1): Show a0003c0005t0053g0142 a0003c0017t0005g0088 a0003c0017t0005g0089 a0020c0042t0005g0077	4	236	0.0170	46	c.482 others(63): Show c.482+1300_482+1301insCCTCCTTCCTTCCTTCCCTCCCTCCCTC CCTCCCTCCTTCCTTCCT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36			chr22	TogoVar
CACNA2D3_chr3_54117552_55079557	54478660	G G	GTGTATAT others(39): Show GTGTATATATATATATATTGCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02300.hp1 HG02572.hp2 others(6): Show HG01169.hp1 HG02300.hp1 HG02572.hp2 HG02976.hp1 HG03453.hp2 HG03486.hp2 HG04115.hp2 HG04204.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0022 a0001c0037	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0022t0001 a0001c0037t0004	a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0080 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0002t0001g0039 a0001c0002t0002g0066 a0001c0004t0001g0031 a0001c0022t0001g0041 a0001c0037t0004g0019	9	118	0.0763	46	c.382 others(65): Show c.382-24831_382-24830insGTATATATATATATATTGCTATATAT ATATATATATATATATATAT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	118	0.0085	46	c.138 others(65): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18335709_18548557	18443004	A A	ATATATAT others(39): Show ATATATATATATATGTATATATATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	302	0.0033	46	c.171 others(65): Show c.171+40970_171+40971insATATGTATATATATATATGTATATAT ATATATATATGTATATATAT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(39): Show GCTCGCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	214	0.0047	46	c.-11 others(57): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGCGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(39): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03834.hp1 NA19003.hp2 HG03491.hp1 HG03834.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0070 a0001c0001t0005 a0001c0001t0009 a0001c0001t0070	a0001c0001t0005g0126 a0001c0001t0009g0121 a0001c0001t0070g0136 a0001c0001t0005g0126 a0001c0001t0009g0121 a0001c0001t0070g0136	3	214	0.0140	46	c.-11 others(57): Show c.-1185_-1184insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(39): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0168 a0001c0001t0076g0168	1	214	0.0047	46	c.-11 others(57): Show c.-1185_-1184insAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36706263	T T	TCTTCTTC others(39): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0187 a0001c0001t0085g0187	1	214	0.0047	46	c.-36 others(57): Show c.-3688_-3687insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2512		chr22	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	430	0.0023	46	c.545 others(61): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAAAAAATATATATA TATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	430	0.0023	46	c.545 others(61): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0046	1	430	0.0023	46	c.545 others(61): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACTIN_chr19_3605645_3631790	3628713	G G	GAGTTCAG others(39): Show GAGTTCAGGAGTTCGAGACCAGCCTTGTCAACATGGTGAAACCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	408	0.0025	46	c.-19 others(57): Show c.-1952_-1951insGTGGGGTTTCACCATGTTGACAAGGCTGGTCTCG AACTCCTGAACT	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding		1924		chr19	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02683.hp2 others(6): Show HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02895.hp2 HG02965.hp2 HG03195.hp2 HG03579.hp1 HG03704.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0001t0050 a0001c0002t0016 a0001c0002t0034	a0001c0001t0001g0016 a0001c0001t0002g0136 a0001c0001t0004g0075 others(6): Show a0001c0001t0001g0016 a0001c0001t0002g0136 a0001c0001t0004g0075 a0001c0001t0005g0123 a0001c0001t0007g0029 a0001c0001t0023g0003 a0001c0001t0050g0107 a0001c0002t0016g0051 a0001c0002t0034g0046	9	146	0.0616	46	c.62- others(65): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATGTA others(39): Show CATATGTATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp2 HG01516.hp1 others(7): Show HG01099.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG02451.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 NA18906.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0036	a0001c0001t0001g0084 a0001c0001t0002g0023 a0001c0001t0002g0044 others(7): Show a0001c0001t0001g0084 a0001c0001t0002g0023 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0119 a0001c0001t0003g0068 a0001c0001t0003g0093 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0036g0106	10	146	0.0685	46	c.62- others(65): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431870	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0143 a0001c0002t0011g0143	1	146	0.0069	46	c.62- others(65): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATATATATATATGCAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85568463	C C	CTTTCTTT others(39): Show CTTTCTTTTTCTTTCTTTCTTTCTCTTTCTCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0021 a0001c0001t0014g0021	1	146	0.0069	46	c.62- others(65): Show c.62-158058_62-158057insTTCTTTTTCTTTCTTTCTTTCTCTTT CTCTCTCTCTTTCTTTCTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS_chr3_62393348_62880416	62599904	T T	TTATATAT others(39): Show TTATATATAATATACAATATATTATATATATAATATACAATATATTA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG01261.hp1 others(6): Show HG01074.hp1 HG01192.hp2 HG01261.hp1 HG01975.hp1 HG02055.hp2 HG02698.hp2 HG03017.hp2 NA18995.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0005g0002	9	160	0.0563	46	c.132 others(65): Show c.1326-7157_1326-7156insTAATATATTGTATATTATATATATAA TATATTGTATATTATATATA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19068.hp2 HG03688.hp1 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0175 a0002c0002t0001g0146 a0002c0002t0001g0175	2	328	0.0061	46	c.912 others(63): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATATTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18969.hp2 NA19087.hp2 HG02135.hp1 NA18969.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0144 a0002c0002t0001g0181 a0002c0002t0001g0186	3	328	0.0092	46	c.912 others(63): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATATTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCR_chr7_93419486_93579724	93460581	A A	ATATATAT others(39): Show ATATATATATACATATATATATATATATACACATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	292	0.0034	46	c.648 others(61): Show c.648+239_648+240insCACACATATATATATGTGTATATATATATA TATATGTATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01515.hp2 HG03139.hp2 others(2): Show HG00408.hp1 HG01515.hp2 HG03139.hp2 HG03453.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0002c0002t0002	a0001c0001t0001g0140 a0001c0001t0003g0148 a0001c0001t0005g0119 others(2): Show a0001c0001t0001g0140 a0001c0001t0003g0148 a0001c0001t0005g0119 a0001c0001t0012g0090 a0002c0002t0002g0120	5	292	0.0171	46	c.-27 others(65): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA TATATATATATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	432	0.0023	46	c.34+ others(61): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAAGAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALN1_chr7_71774491_72417338	72209193	C C	CTTCCCTC others(39): Show CTTCCCTCCTTCCCTCTTTCCTTCCCTCTTTCCTTCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	142	0.0070	46	c.244 others(65): Show c.244+69492_244+69493insAGGGAAGGAGGGAAGGAAAGAGGGAA GGAAAGAGGGAAGGAGGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar

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Search Results (Total: 3221 hits)