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
CAMKMT_chr2_44356947_44777592	44589118	C C	CGTCCGGG others(37): Show CGTCCGGGAGGGAGGCGCGAGGGGGGGGGGTCGGCCAGCCGCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	198	0.0051	44	c.377 others(65): Show c.377-115162_377-115161insCGGGAGGGAGGCGCGAGGGGGGGG GGTCGGCCAGCCGCCCTGTC	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	58	0.0172	44	c.438 others(63): Show c.438+26678_438+26679insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7276303	A A	ATATATAT others(37): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	58	0.0172	44	c.438 others(63): Show c.438+26678_438+26679insATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7594117	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02257.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0007 a0001c0002t0003g0025 a0001c0001t0001g0007 a0001c0002t0003g0025	2	58	0.0345	44	c.511 others(63): Show c.511-46259_511-46258insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPG_chr2_85389753_85415366	85397704	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0080 a0003c0006t0001g0080	1	410	0.0024	44	c.892 others(59): Show c.892+315_892+316insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	CAPG	ENSG00000042493.16	transcript	ENST00000263867.9	protein_coding	8/9			chr2	TogoVar
CAPZA1_chr1_112614832_112676616	112643869	C C	CAGTCTCT others(37): Show CAGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	368	0.0027	44	c.40- others(59): Show c.40-3335_40-3334insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTC	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02273.hp1 HG03041.hp2 others(2): Show HG01943.hp2 HG02273.hp1 HG03041.hp2 HG03516.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0131 a0001c0001t0001g0148 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0357	5	364	0.0137	44	c.330 others(61): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CAPZB_chr1_19333775_19490539	19366307	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0280 a0001c0002t0003g0280	1	364	0.0028	44	c.330 others(61): Show c.330-8745_330-8744insTTATTTATATATATATATATATATATAT ATATATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2909610	T T	TCAGCCTC others(37): Show TCAGCCTCTCACCCCTCTGTCCCTCACCCTCTGCCCCTCACTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 HG02647.hp2 others(3): Show HG02055.hp2 HG02630.hp1 HG02647.hp2 HG03195.hp1 HG03516.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0018 a0001c0044 others(2): Show a0001c0003 a0001c0018 a0001c0044 a0002c0035 a0002c0062	a0001c0003t0001 a0001c0018t0001 a0001c0044t0003 others(2): Show a0001c0003t0001 a0001c0018t0001 a0001c0044t0003 a0002c0035t0003 a0002c0062t0003	a0001c0003t0001g0004 a0001c0018t0001g0058 a0001c0018t0001g0060 others(3): Show a0001c0003t0001g0004 a0001c0018t0001g0058 a0001c0018t0001g0060 a0001c0044t0003g0267 a0002c0035t0003g0317 a0002c0062t0003g0310	6	322	0.0186	44	c.326 others(61): Show c.3260+439_3260+440insGGGAGTGAGGGGCAGAGGGTGAGGGACA GAGGGGTGAGAGGCTG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CARD19_chr9_93091217_93118283	93115799	A A	AGGGGGTG others(37): Show AGGGGGTGAGAGACGGGTGAAGGAGGGAGGGGGTGAGGGAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	358	0.0028	44	c.26 others(55): Show c.2692_*2693insGGGGGTGAGAGACGGGTGAAGGAGGGAGGGGGTG AGGGAGGGGT	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding		2517		chr9	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(37): Show GCATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03195.hp2 HG02145.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0018 a0001c0001t0001 a0001c0004t0018	a0001c0001t0001g0078 a0001c0004t0018g0093 a0001c0001t0001g0078 a0001c0004t0018g0093	2	186	0.0108	44	c.138 others(63): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATATATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCCTCC others(37): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	321	0.0031	44	c.802 others(61): Show c.802-2597_802-2554dupGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(37): Show TTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02897.hp2 HG00741.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0242 a0001c0001t0001g0214 a0001c0001t0001g0242	2	321	0.0062	44	c.802 others(61): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(37): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	321	0.0031	44	c.802 others(61): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3032060	C C	CTCCCTCC others(37): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	321	0.0031	44	c.802 others(61): Show c.802-2618_802-2617insAGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CASC3_chr17_40135537_40177171	40140357	C C	CACACACC others(37): Show CACACACCAACACACACACCAACACACACACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	266	0.0038	44	c.-19 others(53): Show c.-192_-191insACACACCAACACACACACCAACACACACACACACAC ACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		179		chr17	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(37): Show GTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02647.hp2 HG03490.hp1 HG02148.hp1 HG02647.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0031 a0001c0001t0003g0124 a0001c0001t0005g0132 a0001c0001t0003g0031 a0001c0001t0003g0124 a0001c0001t0005g0132	3	314	0.0096	44	c.-24 others(63): Show c.-242-1541_-242-1540insTAGGAAGGAAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(37): Show AGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0269 a0001c0001t0013g0269	1	314	0.0032	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAACAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	314	0.0032	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0242 a0002c0002t0002g0242	1	314	0.0032	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAGGAAAAAGAAAGAAAGAA AAAGAAAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0226 a0002c0002t0002g0226	1	314	0.0032	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAAAAAGAAAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	314	0.0032	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAGGAAAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(37): Show AGGAAGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02622.hp1 HG02818.hp1 HG01256.hp2 HG02622.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0121 a0001c0001t0003g0265 a0001c0001t0007g0173 a0001c0001t0001g0121 a0001c0001t0003g0265 a0001c0001t0007g0173	3	314	0.0096	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGAAGGTAGGAAGGAAAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGT others(37): Show AGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp1 HG01258.hp2 others(1): Show HG00733.hp1 HG01256.hp1 HG01258.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0001 a0001c0001t0003 a0001c0001t0013	a0001c0001t0001g0136 a0001c0001t0003g0017 a0001c0001t0013g0005 a0001c0001t0001g0136 a0001c0001t0003g0017 a0001c0001t0013g0005	4	314	0.0127	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGAAGGTAGGAAGGAAAAAGAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(37): Show AGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02074.hp2 HG02723.hp1 others(2): Show HG00642.hp2 HG02074.hp2 HG02723.hp1 HG03831.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0037 others(1): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0037 a0001c0001t0040	a0001c0001t0010g0131 a0001c0001t0013g0109 a0001c0001t0013g0110 others(2): Show a0001c0001t0010g0131 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0037g0135 a0001c0001t0040g0264	5	314	0.0159	44	c.-24 others(63): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(37): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG03041.hp2 HG02622.hp2 HG02886.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0086 a0001c0001t0019 a0001c0001t0086	a0001c0001t0019g0017 a0001c0001t0019g0018 a0001c0001t0086g0016 a0001c0001t0019g0017 a0001c0001t0019g0018 a0001c0001t0086g0016	3	228	0.0132	44	c.113 others(59): Show c.113+785_113+786insACACACACACTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACTC others(37): Show ACACACTCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 NA19030.hp1 HG01891.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0003 a0001c0001t0031	a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0031g0092 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0031g0092	3	228	0.0132	44	c.113 others(59): Show c.113+785_113+786insACACTCACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTGTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACTCAC others(37): Show ACACTCACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0117 a0001c0001t0077g0117	1	228	0.0044	44	c.113 others(59): Show c.113+785_113+786insACTCACTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTGTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965885	C C	CACTCTCT others(37): Show CACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01257.hp2 HG01496.hp2 others(6): Show HG00609.hp1 HG01257.hp2 HG01496.hp2 HG02040.hp1 HG02055.hp1 HG03831.hp1 NA18612.hp1 NA19066.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0061 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0061 a0001c0001t0067	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(6): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0061g0174 a0001c0001t0067g0172	9	228	0.0395	44	c.113 others(59): Show c.113+787_113+788insACTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTGTCTG	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8			chr7	TogoVar
CASZ1_chr1_10631604_10801646	10743417	A A	AGGAGAGC others(37): Show AGGAGAGCCCTGGGAGAGCCCTGGGAGAGCCCTGGGAGAGCCCTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	236	0.0042	44	c.-77 others(63): Show c.-77+17283_-77+17284insCAGGGCTCTCCCAGGGCTCTCCCAGG GCTCTCCCAGGGCTCTCC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10744731	C C	CACCACGA others(37): Show CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG01891.hp2 others(9): Show HG00735.hp1 HG01884.hp2 HG01891.hp2 HG02717.hp2 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG04115.hp2 NA18966.hp2 NA19043.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0024 a0001c0002t0025 a0001c0002t0028 a0001c0003t0002 a0001c0003t0004 a0001c0012t0001 a0004c0005t0001	a0001c0001t0001g0155 a0001c0001t0007g0221 a0001c0001t0008g0037 others(9): Show a0001c0001t0001g0155 a0001c0001t0007g0221 a0001c0001t0008g0037 a0001c0002t0002g0154 a0001c0002t0004g0138 a0001c0002t0024g0159 a0001c0002t0025g0141 a0001c0002t0028g0011 a0001c0003t0002g0227 a0001c0003t0004g0168 a0001c0012t0001g0172 a0004c0005t0001g0158	12	236	0.0509	44	c.-77 others(63): Show c.-77+15969_-77+15970insAGGACATGCCTGCTCGTGGTGCCCAG GACATGCCTGCTCGTGGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(37): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01123.hp1 others(13): Show HG00621.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG02040.hp1 HG02155.hp1 HG02717.hp1 HG02886.hp2 HG02922.hp1 NA18612.hp2 NA18979.hp2 NA19002.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0007c0012	a0001c0001t0002 a0001c0010t0002 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0010t0002 a0002c0002t0002 a0002c0002t0006 a0007c0012t0001	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0023 others(10): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0140 a0001c0001t0002g0158 a0001c0010t0002g0006 a0001c0010t0002g0041 a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0006g0133 a0007c0012t0001g0029	16	398	0.0402	44	c.39 others(55): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	336	0.0030	44	c.277 others(59): Show c.277-521_277-520insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	336	0.0030	44	c.142 others(63): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATATTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CBARP_chr19_1223287_1243005	1234183	G G	GGCGAGGA others(37): Show GGCGAGGAGCCTTCTAGACACGCACCTCCTTTTCTCTGCAAACCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02896.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0083 a0009c0029t0002g0083	1	408	0.0025	44	c.768 others(55): Show c.768+7_768+8insGGGTTTGCAGAGAAAAGGAGGTGCGTGTCTAGAA GGCTCCTCGC	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	7/9			chr19	TogoVar
CBFA2T2_chr20_33485096_33655030	33545439	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	298	0.0034	44	c.34+ others(61): Show c.34+55172_34+55173insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88932156	G G	GCCCCTCA others(37): Show GCCCCTCACACGGCCCCCGCTTCCCCCTCACACGGCCCCCGCTTC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02886.hp2 HG03098.hp1 HG01123.hp1 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0145 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0001t0001g0145 a0001c0002t0001g0102 a0001c0002t0001g0104	3	284	0.0106	44	c.152 others(63): Show c.152-30501_152-30500insGAAGCGGGGGCCGTGTGAGGGGGAAG CGGGGGCCGTGTGAGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88932166	C C	CGGCCCCC others(37): Show CGGCCCCCGCTTCCCCCTCACACGGCCCCCGCTTCCCCCTCACAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	284	0.0035	44	c.152 others(63): Show c.152-30511_152-30510insATGTGAGGGGGAAGCGGGGGCCGTGT GAGGGGGAAGCGGGGGCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBR1_chr21_36065024_36078164	36074903	A A	AGGGGGGG others(37): Show AGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	44	c.20 others(55): Show c.2021_*2022insGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGG GGGGGGGGGG	CBR1	ENSG00000159228.13	transcript	ENST00000290349.11	protein_coding		1740		chr21	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19083.hp1 HG02165.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0031 a0001c0003t0001g0157 a0001c0001t0001g0031 a0001c0003t0001g0157	2	242	0.0083	44	c.213 others(63): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATATATATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01099.hp2 others(12): Show HG00140.hp2 HG00741.hp1 HG01099.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01981.hp1 HG02109.hp1 HG02165.hp1 HG02717.hp2 HG03139.hp2 HG03688.hp1 NA18612.hp2 NA18974.hp1 NA19054.hp1	a0001 a0005 a0008 others(2): Show a0001 a0005 a0008 a0009 a0010	a0001c0001 a0001c0004 a0005c0005 others(3): Show a0001c0001 a0001c0004 a0005c0005 a0008c0009 a0009c0010 a0010c0013	a0001c0001t0001 a0001c0004t0001 a0005c0005t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0005c0005t0001 a0008c0009t0001 a0009c0010t0001 a0010c0013t0001	a0001c0001t0001g0042 a0001c0001t0001g0306 a0001c0001t0001g0316 others(12): Show a0001c0001t0001g0042 a0001c0001t0001g0306 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0004t0001g0050 a0001c0004t0001g0073 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0097 a0001c0004t0001g0107 a0005c0005t0001g0042 a0008c0009t0001g0150 a0009c0010t0001g0193 a0009c0010t0001g0194 a0010c0013t0001g0256	15	440	0.0341	44	c.676 others(61): Show c.676-1729_676-1728insTATATATATATATATATATATATATATA TATATATATATATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	354	0.0028	44	c.97- others(61): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	354	0.0028	44	c.97- others(61): Show c.97-10734_97-10733insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp2 HG02886.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0010 a0001c0005t0018g0010	2	320	0.0063	44	c.826 others(59): Show c.826-544_826-543insGTATGTATATATATATATATATATATATAT ATATATATATATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC141_chr2_178824757_179055137	179015338	T T	TCATATAT others(37): Show TCATATATGTATCATACATATCTCATATATGTATCATACATATCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0006 a0007c0015t0006	a0007c0015t0006g0239 a0007c0015t0006g0239	1	274	0.0037	44	c.225 others(63): Show c.225+31945_225+31946insGGATATGTATGATACATATATGAGAT ATGTATGATACATATATG	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC141_chr2_178824757_179055137	179015558	C C	CTCATATA others(37): Show CTCATATATATGATATATATATCTCATATATCTCATATATATGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0163 a0001c0001t0063g0163	1	274	0.0037	44	c.225 others(63): Show c.225+31725_225+31726insATCATATATATGAGATATATGAGATA TATATATCATATATATGA	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0249 a0001c0010t0005g0249	1	264	0.0038	44	c.25+ others(61): Show c.25+23323_25+23324insATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	264	0.0038	44	c.25+ others(61): Show c.25+23323_25+23324insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433261	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	264	0.0038	44	c.25+ others(61): Show c.25+23153_25+23154insATATATATATATATATATATATATATAT ATATATATATATATAT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC150_chr2_196634715_196737801	196721361	T T	TATATATG others(37): Show TATATATGTGTATATATATATATATATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01069.hp1 others(23): Show HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp2 HG01891.hp2 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 NA18939.hp2 NA18946.hp2 NA18981.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 others(19): Show a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047	26	212	0.1226	44	c.226 others(61): Show c.2260-155_2260-154insGTGTATATATATATATATATATATATAT ACATATATACATATAT	CCDC150	ENSG00000144395.18	transcript	ENST00000389175.9	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr2	TogoVar

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