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
CACNA1C_chr12_2047987_2702950	2539419	C C	CTTCATAA others(34): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	104	0.0096	41	c.139 others(62): Show c.1391-10484_1391-10483insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2539501	C C	CTTCATAA others(34): Show CTTCATAAAGATGCAGGCACGGTTTAAGGACTTAAGGAGGGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0081 a0001c0001t0028g0081	1	104	0.0096	41	c.139 others(62): Show c.1391-10424_1391-10423insCGGTTTAAGGACTTAAGGAGGGTT TCATAAAGATGCAGGCA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2539501	C C	CTTCATAA others(34): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0079 a0001c0005t0026g0079	1	104	0.0096	41	c.139 others(62): Show c.1391-10401_1391-10361dupTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2539870	T T	TTTCATAA others(34): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03209.hp2 HG03579.hp1 HG02572.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0024 a0001c0001t0043 a0001c0003t0018 a0001c0001t0024 a0001c0001t0043 a0001c0003t0018	a0001c0001t0024g0080 a0001c0001t0043g0032 a0001c0003t0018g0068 a0001c0001t0024g0080 a0001c0001t0043g0032 a0001c0003t0018g0068	3	104	0.0289	41	c.139 others(62): Show c.1391-10044_1391-10043insCTTAAGGAGGGCTTCATAAAGATG CAGGCAGGGTTTAAGGA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682556	T T	TTTTTTTT others(34): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGACCCTGTCTTA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0141 a0005c0015t0001g0141	1	210	0.0048	41	c.122 others(60): Show c.1220+8740_1220+8741insTTTTTTTTTTTTTTTTTTTTTTTTTT AGAGACCCTGTCTTA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48			chr3	TogoVar
CACNA1H_chr16_1148106_1226768	1204952	G G	GGGGCCCC others(34): Show GGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0045 a0045	a0045c0089 a0045c0089	a0045c0089t0005 a0045c0089t0005	a0045c0089t0005g0262 a0045c0089t0005g0262	1	338	0.0030	41	c.245 others(58): Show c.2452-159_2452-158insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596365	A A	AGCAGGGT others(34): Show AGCAGGGTGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02895.hp1 others(2): Show HG01891.hp2 HG02630.hp2 HG02895.hp1 HG03225.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0022 a0001c0027 a0003c0005 a0001c0022 a0001c0027 a0003c0005	a0001c0022t0010 a0001c0027t0015 a0003c0005t0005 others(1): Show a0001c0022t0010 a0001c0027t0015 a0003c0005t0005 a0003c0005t0008	a0001c0022t0010g0004 a0001c0027t0015g0136 a0003c0005t0005g0170 others(2): Show a0001c0022t0010g0004 a0001c0027t0015g0136 a0003c0005t0005g0170 a0003c0005t0005g0172 a0003c0005t0008g0171	5	236	0.0212	41	c.237 others(58): Show c.237-1780_237-1779insTGGAGGGAGATGGGGGGCAGGGCGGAGG GAGATGGGCAGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39601895	C C	CTCCCTCC others(34): Show CTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp1 HG02922.hp2 others(4): Show HG00639.hp1 HG02615.hp1 HG02922.hp2 HG02970.hp2 HG03209.hp1 HG03516.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0019	a0001c0001 a0002c0003 a0003c0005 others(2): Show a0001c0001 a0002c0003 a0003c0005 a0012c0021 a0019c0040	a0001c0001t0004 a0001c0001t0005 a0002c0003t0001 others(4): Show a0001c0001t0004 a0001c0001t0005 a0002c0003t0001 a0002c0003t0004 a0003c0005t0005 a0012c0021t0022 a0019c0040t0033	a0001c0001t0004g0107 a0001c0001t0005g0007 a0002c0003t0001g0106 others(4): Show a0001c0001t0004g0107 a0001c0001t0005g0007 a0002c0003t0001g0106 a0002c0003t0004g0006 a0003c0005t0005g0079 a0012c0021t0022g0072 a0019c0040t0033g0076	7	236	0.0297	41	c.482 others(58): Show c.482+1251_482+1252insTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCCT	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D3_chr3_54117552_55079557	54141086	T T	TGTGTGTG others(34): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGCGCTGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0106 a0001c0025t0004g0106	1	118	0.0085	41	c.204 others(60): Show c.204+17493_204+17494insTGTGTGTGTGTGTGTGTGTGCGCGCG CGCGCGCGCGCTGCG	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18427777	T T	TTTCTTAC others(34): Show TTTCTTACTAATCTCTGCAGTATCTACAGTTACATCTTTTCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	200	0.0050	41	c.333 others(60): Show c.333+25739_333+25779dupTACTAATCTCTGCAGTATCTACAGTT ACATCTTTTCCTTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18427777	T T	TTTCTTAC others(34): Show TTTCTTACTAATCTCTGCAGTATCTACAGTTACATCTTTTCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	302	0.0033	41	c.171 others(60): Show c.171+25739_171+25779dupTACTAATCTCTGCAGTATCTACAGTT ACATCTTTTCCTTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36706197	C C	CCTTCTTC others(34): Show CCTTCTTCTTCTTCTCCCTCTTCTTTTCTTCTTCTCTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0140 a0001c0001t0077g0140	1	214	0.0047	41	c.-36 others(52): Show c.-3622_-3621insAAAGAAGAGAAGAAGAAAAGAAGAGGGAGAAGAA GAAGAAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		2446		chr22	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	430	0.0023	41	c.545 others(56): Show c.545-745_545-744insAAAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATA	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(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0006 a0006c0010t0006	a0006c0010t0006g0078 a0006c0010t0006g0078	1	430	0.0023	41	c.545 others(56): Show c.545-745_545-744insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	146	0.0069	41	c.62- others(60): Show c.62-366855_62-366854insATATATATATATATATATATATATAT ATATTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85697071	T T	TATATATA others(34): Show TATATATATATGCCATATATATATGCCATATATATATATGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0098 a0001c0002t0016g0098	1	146	0.0069	41	c.62- others(58): Show c.62-29428_62-29427insGCCATATATATATATGCCATATATATAT GCCATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122645514	T T	TTAAATAT others(34): Show TTAAATATATATATTTACATATATTTAATATATATATACTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp1 HG02965.hp1 others(4): Show HG01243.hp1 HG02723.hp1 HG02965.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0089 others(4): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098	7	126	0.0556	41	c.787 others(60): Show c.787-16187_787-16186insTAAGTATATATATATTAAATATATGT AAATATATATATTTA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62599691	T T	TTATAATA others(34): Show TTATAATATATATATTATATAATATATAATATATATAGTATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	160	0.0063	41	c.132 others(60): Show c.1326-6984_1326-6944dupTATACTATATATATTATATATTATAT AATATATATATTATA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	6/29			chr3	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18939.hp1 NA18964.hp1 HG00609.hp2 NA18939.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0210 a0002c0002t0001g0309 a0002c0002t0001g0188 a0002c0002t0001g0210 a0002c0002t0001g0309	3	328	0.0092	41	c.912 others(58): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATATTTTTT	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(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03492.hp2 NA18940.hp2 HG02074.hp1 HG03492.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0227 a0002c0002t0001g0234 a0002c0002t0001g0214 a0002c0002t0001g0227 a0002c0002t0001g0234	3	328	0.0092	41	c.912 others(58): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALM2_chr2_47155084_47181511	47167693	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	432	0.0023	41	c.34+ others(56): Show c.34+3040_34+3041insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CAMK1D_chr10_12344547_12840545	12387445	T T	TTATATAT others(34): Show TTATATATTTTATATATTATATATATTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01106.hp2 others(15): Show HG00280.hp1 HG00642.hp2 HG01106.hp2 HG01168.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG02273.hp2 HG02602.hp2 HG02735.hp1 HG02886.hp1 HG03491.hp2 HG03669.hp1 NA18906.hp2 NA18948.hp2 NA18955.hp1 NA18983.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0001c0001t0036 a0001c0001t0038 a0001c0001t0087 a0001c0001t0094 a0001c0001t0098 a0001c0001t0100 a0001c0002t0010 a0001c0002t0024 a0001c0003t0022	a0001c0001t0001g0016 a0001c0001t0002g0126 a0001c0001t0004g0134 others(15): Show a0001c0001t0001g0016 a0001c0001t0002g0126 a0001c0001t0004g0134 a0001c0001t0005g0015 a0001c0001t0005g0054 a0001c0001t0006g0187 a0001c0001t0018g0013 a0001c0001t0020g0142 a0001c0001t0036g0125 a0001c0001t0038g0049 a0001c0001t0087g0124 a0001c0001t0094g0094 a0001c0001t0098g0037 a0001c0001t0100g0135 a0001c0002t0010g0209 a0001c0002t0024g0127 a0001c0002t0024g0131 a0001c0003t0022g0024	18	214	0.0841	41	c.92+ others(58): Show c.92+37542_92+37543insTTTATATATTATATATATTTTATATATA TATATATATATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12694195	T T	TAATATAT others(34): Show TAATATATATTATGCATAATATATATATTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01256.hp2 HG00280.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0126 a0001c0001t0034g0202 a0001c0001t0002g0126 a0001c0001t0034g0202	2	214	0.0094	41	c.299 others(60): Show c.299+27386_299+27387insATATATATTATGCATAATATATATAT TATATATAATATAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44410247	A A	AGACTATA others(34): Show AGACTATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	198	0.0051	41	c.376 others(60): Show c.376+19942_376+19943insGACTATATATATATATATATATATAT ATATATATATATTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CANT1_chr17_78986716_79014764	79004058	G G	GGGGGAGT others(34): Show GGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp1 HG01346.hp1 others(2): Show HG01255.hp2 HG01256.hp1 HG01346.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	5	394	0.0127	41	c.-14 others(60): Show c.-147+5565_-147+5605dupTCCCTAACTCCCCTCCCTAACTCCCC TCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005026	A A	AGGGGAGC others(34): Show AGGGGAGCTGGGGGGGAGTTATGGAGCAAGGAGTTAGGGAGG	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0093 a0001c0003t0010g0093	1	394	0.0025	41	c.-14 others(60): Show c.-147+4637_-147+4638insCCTCCCTAACTCCTTGCTCCATAACT CCCCCCCAGCTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01975.hp2 HG00099.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0072 a0001c0001t0003g0073	2	380	0.0053	41	c.721 others(56): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN12_chr19_38725192_38749474	38735737	C C	CGGGGCGG others(34): Show CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0053 a0002c0004t0001g0053	1	342	0.0029	41	c.158 others(58): Show c.1584-194_1584-193insCGCCCCGCCCCGCCCCGCCCCCAGAACC CCCGCCCCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735917	C C	CGGGGCGG others(34): Show CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGGTTCTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0305 a0001c0001t0005g0305	1	342	0.0029	41	c.158 others(58): Show c.1583+192_1583+193insCAGAACCCCCCGCCCCGCCCCGCCCGCA GAACCACCGCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38735922	C C	CGGTGGTT others(34): Show CGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0309 a0001c0001t0005g0309	1	342	0.0029	41	c.158 others(58): Show c.1583+187_1583+188insCGCCCCCAGAACCCCCGCCCCGCCCCGC CCGCAGAACCACC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN2_chr1_223707539_223781018	223741440	G G	GTGTATAT others(34): Show GTGTATATATATATATATATATATATATATATAATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0004 a0009c0019t0004	a0009c0019t0004g0226 a0009c0019t0004g0226	1	378	0.0027	41	c.308 others(58): Show c.308-2659_308-2658insGTATATATATATATATATATATATATAT ATAATGTGTGTAT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN3_chr15_42354501_42417317	42411440	C C	CTCATCTT others(34): Show CTCATCTTCATTGGTTATAAGGGGGGATGGACAGGGTGTGCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	306	0.0033	41	c.243 others(56): Show c.2439+95_2439+96insTCATCTTCATTGGTTATAAGGGGGGATGGA CAGGGTGTGCT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	23/23			chr15	TogoVar
CARNS1_chr11_67410678_67430604	67415698	G G	GCCGCCGC others(34): Show GCCGCCGCTGCATCCCGCCCGGTCGGAGTCCGCCCGCCACGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0003 a0001c0003t0042g0003	1	346	0.0029	41	c.-67 others(48): Show c.-67_-66insGGAGTCCGCCCGCCACGCCCGCCGCTGCATCCCGCCCG GTC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	1/10	478	INFO_REALIGN_3_PRIME	chr11	TogoVar
CASP7_chr10_113674912_113735905	113687836	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0338 a0001c0001t0004g0338	1	406	0.0025	41	c.-1+ others(56): Show c.-1+7858_-1+7859insTTTCTTTCTTTCTTTCTTTCTTTCCTTTCT TTCTTTTCTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6			chr10	TogoVar
CATSPER3_chr5_134962907_135016696	135009569	T T	TGGTGCCT others(34): Show TGGTGCCTGTGTAGAGAGCAGGTGGCCTCAGGCATCTGCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0001c0013 a0002c0004 a0002c0005 a0002c0006 a0003c0009 a0003c0011 a0004c0008 a0005c0007 a0006c0015 a0007c0014 a0008c0010	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 a0001c0013t0001 a0002c0004t0001 a0002c0005t0001 a0002c0006t0001 a0003c0009t0001 a0003c0011t0001 a0004c0008t0001 a0005c0007t0001 a0006c0015t0001 a0007c0014t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(294): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0037 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0124 a0001c0002t0001g0133 a0001c0002t0001g0141 a0001c0002t0001g0146 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0205 a0001c0002t0001g0209 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0012 a0001c0003t0001g0020 a0001c0003t0001g0024 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0058 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0090 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0109 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0153 a0001c0003t0001g0170 a0001c0003t0001g0196 a0001c0003t0001g0199 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0227 a0001c0003t0001g0229 a0001c0003t0001g0234 a0001c0003t0001g0256 a0001c0003t0001g0279 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0307 a0001c0012t0001g0107 a0001c0013t0001g0016 a0002c0004t0001g0010 a0002c0004t0001g0033 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0049 a0002c0004t0001g0061 a0002c0004t0001g0063 a0002c0004t0001g0064 a0002c0004t0001g0085 a0002c0004t0001g0088 a0002c0004t0001g0183 a0002c0004t0001g0186 a0002c0004t0001g0190 a0002c0004t0001g0288 a0002c0004t0001g0290 a0002c0004t0001g0291 a0002c0004t0001g0292 a0002c0004t0001g0293 a0002c0004t0001g0294 a0002c0004t0001g0295 a0002c0004t0001g0296 a0002c0004t0001g0297 a0002c0004t0001g0298 a0002c0004t0001g0299 a0002c0005t0001g0028 a0002c0005t0001g0035 a0002c0005t0001g0065 a0002c0005t0001g0084 a0002c0005t0001g0089 a0002c0005t0001g0171 a0002c0005t0001g0172 a0002c0005t0001g0174 a0002c0005t0001g0175 a0002c0005t0001g0176 a0002c0005t0001g0177 a0002c0005t0001g0185 a0002c0005t0001g0188 a0002c0005t0001g0194 a0002c0005t0001g0242 a0002c0005t0001g0249 a0002c0005t0001g0270 a0002c0005t0001g0289 a0002c0006t0001g0013 a0002c0006t0001g0182 a0002c0006t0001g0184 a0002c0006t0001g0210 a0003c0009t0001g0012 a0003c0011t0001g0034 a0004c0008t0001g0137 a0004c0008t0001g0138 a0005c0007t0001g0300 a0006c0015t0001g0200 a0007c0014t0001g0125 a0008c0010t0001g0301	361	380	0.9500	41	c.936 others(55): Show c.936+80_936+120dupGGTGCCTGTGTAGAGAGCAGGTGGCCTCAGG CATCTGCAGC	CATSPER3	ENSG00000152705.8	transcript	ENST00000282611.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPER3_chr5_134962907_135016696	135009570	G G	GGTGCCTG others(34): Show GGTGCCTGTGTAGAGAGCAGGTGGCCTCAGGCATCTGCAGCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0123 a0005c0007t0001g0302 a0001c0001t0001g0123 a0005c0007t0001g0302	2	380	0.0053	41	c.936 others(56): Show c.936+120_936+121insAGTGCCTGTGTAGAGAGCAGGTGGCCTCAG GCATCTGCAGC	CATSPER3	ENSG00000152705.8	transcript	ENST00000282611.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPERD_chr19_5715637_5783734	5733307	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0023 a0023	a0023c0026 a0023c0026	a0023c0026t0002 a0023c0026t0002	a0023c0026t0002g0335 a0023c0026t0002g0335	1	336	0.0030	41	c.277 others(56): Show c.277-549_277-548insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	4/21			chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0040 a0003c0004t0001g0040	1	336	0.0030	41	c.142 others(60): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	336	0.0030	41	c.142 others(60): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18981.hp2 HG00323.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0188 a0001c0001t0003g0182 a0001c0001t0002g0188 a0001c0001t0003g0182	2	342	0.0059	41	c.195 others(58): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT ATATTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	342	0.0029	41	c.195 others(58): Show c.195+7707_195+7708insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88931500	A A	AGGACGAG others(34): Show AGGACGAGCCAGAGGTGGAGAAGGGCCGTGGGCCGGCCCCGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0007 a0001c0003t0011g0007	1	284	0.0035	41	c.152 others(60): Show c.152-29885_152-29845dupACGGGGCCGGCCCACGGCCCTTCTCC ACCTCTGGCTCGTCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88931504	C C	CGAGCCAG others(34): Show CGAGCCAGAGGTGGAGAAGGGCCGTGGGCCGGCCCCGTGGAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	284	0.0035	41	c.152 others(60): Show c.152-29849_152-29848insATCCACGGGGCCGGCCCACGGCCCTT CTCCACCTCTGGCTC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88931655	C C	CCGGCCCC others(34): Show CCGGCCCCATGGATGAGCCAGAGGTGGAGAAGGGCCGTGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(52): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG02135.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02818.hp1 HG02895.hp1 HG03195.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp2 NA18983.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19057.hp2 NA19065.hp1 NA19079.hp2 NA19085.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0002c0004 a0004c0023 others(1): Show a0001c0001 a0002c0004 a0004c0023 a0009c0019	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0031 a0002c0004t0001 a0004c0023t0001 a0009c0019t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(52): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0008g0179 a0001c0001t0009g0135 a0001c0001t0009g0160 a0001c0001t0016g0023 a0001c0001t0020g0262 a0001c0001t0031g0232 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0004t0001g0161 a0004c0023t0001g0280 a0009c0019t0001g0207	55	284	0.1937	41	c.152 others(60): Show c.152-30000_152-29999insCCCCACGGCCCTTCTCCACCTCTGGC TCATCCATGGGGCCG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	T T	TCTGCTCC others(34): Show TCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	284	0.0035	41	c.151 others(58): Show c.151+1488_151+1489insGATCAGGGTGGACCTCTGACATGGCTGC AGGTCAGGAGCAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975179	C C	CCTGCAGC others(34): Show CCTGCAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	284	0.0035	41	c.151 others(58): Show c.151+1477_151+1478insCAGGAGCAGAGGGTCAGGGTGGACCTCT GACATGGCTGCAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC110_chr4_185440182_185476733	185471110	G G	GGGGGCGG others(34): Show GGGGGCGGGGCAGAGGGATGGGGAGGGGCAGGGCTGAAGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03471.hp1 HG01109.hp1 HG03471.hp1	a0001 a0019 a0001 a0019	a0001c0006 a0019c0027 a0001c0006 a0019c0027	a0001c0006t0003 a0019c0027t0002 a0001c0006t0003 a0019c0027t0002	a0001c0006t0003g0299 a0019c0027t0002g0298 a0001c0006t0003g0299 a0019c0027t0002g0298	2	428	0.0047	41	c.11- others(52): Show c.11-62_11-61insAGCCTTCAGCCCTGCCCCTCCCCATCCCTCTGCC CCGCCCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC110_chr4_185440182_185476733	185471340	A A	AGGCTGAA others(34): Show AGGCTGAAGGCTGGGGCGGGGCAGAGGGATAGGGCGGGGCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp1 HG00140.hp1 HG01167.hp2 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0079 a0003c0003t0001g0014 a0003c0003t0001g0079	3	428	0.0070	41	c.11- others(54): Show c.11-292_11-291insCTGCCCCGCCCTATCCCTCTGCCCCGCCCCAG CCTTCAGCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC110_chr4_185440182_185476733	185471340	A A	AGGCTGAA others(34): Show AGGCTGAAGGCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(49): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01192.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02698.hp2 HG02738.hp2 HG03209.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp2 NA18945.hp2 NA18959.hp1 NA18965.hp2 NA18980.hp2 NA18982.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19011.hp2 NA19066.hp1 NA19067.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0018	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0004c0007 a0006c0012 a0018c0017	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(8): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0005t0001 a0003c0003t0001 a0003c0003t0002 a0004c0007t0001 a0006c0012t0001 a0018c0017t0002	a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0067 others(45): Show a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0077 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0002g0036 a0002c0002t0002g0059 a0002c0002t0003g0056 a0002c0002t0003g0060 a0002c0002t0004g0012 a0002c0002t0004g0054 a0002c0005t0001g0041 a0002c0005t0001g0065 a0003c0003t0001g0038 a0003c0003t0001g0046 a0003c0003t0001g0050 a0003c0003t0001g0052 a0003c0003t0001g0063 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0078 a0003c0003t0002g0058 a0003c0003t0002g0062 a0004c0007t0001g0076 a0006c0012t0001g0048 a0006c0012t0001g0049 a0018c0017t0002g0045	52	428	0.1215	41	c.11- others(54): Show c.11-292_11-291insCTGCCCCGCCCCATCCCTCTGCCCCGCCCCAG CCTTCAGCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC127_chr5_191868_223153	196705	A A	ATGTCACC others(34): Show ATGTCACCCCACTCCAGGTGTGCCCCCACCCCTGCTGCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	406	0.0025	41	c.85 others(52): Show c.8591_*8592insCAGGGCAGCAGGGGTGGGGGCACACCTGGAGTGG GGTGACA	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding		162		chr5	TogoVar

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