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
C2CD4C_chr19_400445_414147	413174	CGGCACCA others(29): Show CGGCACCAGCTGATTCCCGGGGATCCTGGCCCTCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	322	0.0031	-36	c.-42 others(47): Show c.-4245_-4210delATAGAGGGCCAGGATCCCCGGGAATCAGCTGGTG CC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4028		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27557881	CCTCCCGG others(29): Show CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	326	0.0031	-36	c.145 others(53): Show c.145-7454_145-7419delTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C4orf17_chr4_99506021_99547303	99546653	ACTGTAGG others(29): Show ACTGTAGGTTATTAAAGAAATTAAATGTGAGGAAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0039 a0004c0005t0001g0039	1	386	0.0026	-36	c.45 others(47): Show c.4545_*4580delCTGTAGGTTATTAAAGAAATTAAATGTGAGGAAA TT	C4orf17	ENSG00000138813.10	transcript	ENST00000326581.9	protein_coding		4351		chr4	TogoVar
C5AR2_chr19_47327175_47352329	47336421	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02615.hp2 others(8): Show HG01256.hp2 HG01258.hp2 HG02615.hp2 HG02647.hp1 HG04204.hp1 NA18957.hp2 NA19001.hp1 NA19010.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0043 a0001c0001t0076	a0001c0001t0001g0052 a0001c0001t0001g0212 a0001c0001t0002g0023 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0212 a0001c0001t0002g0023 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0005g0036 a0001c0001t0005g0147 a0001c0001t0043g0051 a0001c0001t0076g0056	11	406	0.0271	-36	c.-16 others(53): Show c.-16+4076_-16+4111delTTTCTTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTC	C5AR2	ENSG00000134830.6	transcript	ENST00000595464.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr19	TogoVar
C7orf50_chr7_992006_1143247	1031435	GCAGAGAC others(29): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	326	0.0031	-36	c.130 others(55): Show c.130-21328_130-21293delTCCCCCGGACCACTCTGCCCTCCCTG CAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031466	GGGGGACC others(29): Show GGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	326	0.0031	-36	c.130 others(55): Show c.130-21359_130-21324delGGACCACTCTGCCCTCCCTGCAGGTC TCTGGTCCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031621	CAGAGACC others(29): Show CAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(13): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02698.hp2 HG03239.hp1 HG04204.hp1 HG04228.hp1 NA18961.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 others(1): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0008c0009t0006	a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 others(13): Show a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0098 a0001c0001t0006g0103 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0017g0084 a0001c0001t0017g0096 a0008c0009t0006g0003	16	326	0.0491	-36	c.130 others(55): Show c.130-21514_130-21479delCCGCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031651	GGGGCGGC others(29): Show GGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCC	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	326	0.0031	-36	c.130 others(55): Show c.130-21544_130-21509delGGACCACTCTGCCCTCCCTGCAGGTC TCTGCCGCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1121811	ATGCTGCA others(29): Show ATGCTGCACCCACCCACTGCACTCACACAGGGCAGCG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	326	0.0031	-36	c.129 others(53): Show c.129+5410_129+5445delCGCTGCCCTGTGTGAGTGCAGTGGGTGG GTGCAGCA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051837	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0057 a0002c0001t0001g0057	1	404	0.0025	-36	c.606 others(51): Show c.606-861_606-826delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCT	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
C9_chr5_39279140_39369495	39366844	GAAAAATA others(29): Show GAAAAATAATGACAGCAGTAAAGTATACTAATAGCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0183 a0006c0006t0001g0183	1	394	0.0025	-36	c.-24 others(47): Show c.-2416_-2381delATGCTATTAGTATACTTTACTGCTGTCATTATTT TT	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		2350		chr5	TogoVar
CA10_chr17_51625320_52163714	51878829	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	156	0.0064	-36	c.279 others(55): Show c.279+52125_279+52160delATATATATATATATATATATATATAT ATATATATAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA4_chr17_60144973_60164546	60163784	CACAGGGA others(29): Show CACAGGGAAGGGATGTGGGTGCATTCTGGAACAAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0056 a0004c0006t0003g0056	1	380	0.0026	-36	c.43 others(47): Show c.4361_*4396delACAGGGAAGGGATGTGGGTGCATTCTGGAACAAG AT	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding		4239		chr17	TogoVar
CABLES2_chr20_62383634_62412285	62398058	ATGGTGGT others(29): Show ATGGTGGTGGTGACGGTGGTGGTGGTGGTGACGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	400	0.0025	-36	c.363 others(53): Show c.363-1502_363-1467delCCACCGTCACCACCACCACCACCGTCAC CACCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP1_chr12_120635626_120672324	120654637	CCAGGCCG others(29): Show CCAGGCCGAAGGCAGAGTGCAGGCCGAAGGCAGAGTG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	418	0.0024	-36	c.655 others(53): Show c.655-5200_655-5165delCCGAAGGCAGAGTGCAGGCCGAAGGCAG AGTGCAGG	CABP1	ENSG00000157782.10	transcript	ENST00000316803.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
CABP5_chr19_48024383_48049079	48025650	TCTCCACC others(29): Show TCTCCACCTCCTTCTCCTCCTCCCTCTCCTTCTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG01884.hp1 others(17): Show HG00738.hp2 HG01255.hp1 HG01884.hp1 HG01891.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG03098.hp2 HG03130.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0001 a0001c0002 a0003c0010 others(2): Show a0001c0001 a0001c0002 a0003c0010 a0005c0008 a0009c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0045 a0001c0001t0047 a0001c0002t0009 a0003c0010t0037 a0005c0008t0009 a0005c0008t0010 a0009c0014t0066	a0001c0001t0002g0015 a0001c0001t0002g0172 a0001c0001t0002g0194 others(16): Show a0001c0001t0002g0015 a0001c0001t0002g0172 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0231 a0001c0001t0002g0266 a0001c0001t0002g0284 a0001c0001t0003g0025 a0001c0001t0007g0161 a0001c0001t0007g0162 a0001c0001t0045g0166 a0001c0001t0047g0246 a0001c0002t0009g0035 a0001c0002t0009g0228 a0003c0010t0037g0286 a0003c0010t0037g0287 a0005c0008t0009g0290 a0005c0008t0010g0289 a0009c0014t0066g0264	20	376	0.0532	-36	c.48 others(47): Show c.4871_*4906delGAGGAGAAGGAGAGGGAGGAGGAGAAGGAGGTGG AG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		3732		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497505	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0160 a0002c0002t0015g0160	1	218	0.0046	-36	c.293 others(53): Show c.293+8391_293+8426delATATATATATATATATATATTTTTTTTT TTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2107295	TGGGTGCT others(29): Show TGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02886.hp2 HG02258.hp1 HG02572.hp1 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0017 a0001c0022 a0001c0003 a0001c0017 a0001c0022	a0001c0003t0018 a0001c0017t0006 a0001c0022t0014 a0001c0003t0018 a0001c0017t0006 a0001c0022t0014	a0001c0003t0018g0068 a0001c0017t0006g0006 a0001c0022t0014g0050 a0001c0003t0018g0068 a0001c0017t0006g0006 a0001c0022t0014g0050	3	104	0.0289	-36	c.50- others(51): Show c.50-7923_50-7888delCTCACCCTGGAGAGGGTTTCCACCTCAGCT GGGGTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2358251	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02145.hp1 HG03139.hp1 others(6): Show HG02040.hp1 HG02145.hp1 HG03139.hp1 HG03139.hp2 HG03516.hp1 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0001c0025 a0001c0026 a0002c0013 a0004c0039	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0003t0037 a0001c0006t0001 a0001c0025t0007 a0001c0026t0003 a0002c0013t0016 a0004c0039t0009	a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0003t0002g0045 others(6): Show a0001c0001t0001g0029 a0001c0001t0002g0027 a0001c0003t0002g0045 a0001c0003t0037g0003 a0001c0006t0001g0102 a0001c0025t0007g0012 a0001c0026t0003g0066 a0002c0013t0016g0022 a0004c0039t0009g0040	9	104	0.0865	-36	c.478 others(55): Show c.478-90703_478-90668delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA2D3_chr3_54117552_55079557	54646164	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCCTTCCTTGCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0048 a0001c0032t0001g0048	1	118	0.0085	-36	c.116 others(55): Show c.1167+3927_1167+3962delCTCCCTCCCTCCCTCCCTCCTTCCTT GCTTCCTTCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822808	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18906.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0001 a0001c0013t0001 a0001c0005t0001 a0001c0013t0001	a0001c0005t0001g0088 a0001c0013t0001g0093 a0001c0005t0001g0088 a0001c0013t0001g0093	2	118	0.0170	-36	c.139 others(55): Show c.1398+5941_1398+5976delCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTCTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18358517	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02451.hp1 HG02630.hp2 others(5): Show HG01978.hp1 HG02451.hp1 HG02630.hp2 HG02970.hp1 HG03041.hp1 NA18522.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0051 a0001c0001t0054 others(4): Show a0001c0001t0001 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0002t0002 a0001c0002t0015 a0001c0002t0030	a0001c0001t0001g0002 a0001c0001t0051g0107 a0001c0001t0054g0162 others(5): Show a0001c0001t0001g0002 a0001c0001t0051g0107 a0001c0001t0054g0162 a0001c0001t0055g0170 a0001c0002t0002g0140 a0001c0002t0002g0185 a0001c0002t0015g0020 a0001c0002t0030g0046	8	200	0.0400	-36	c.214 others(55): Show c.214-43388_214-43353delCTCTCTCTCTCTCTCTCGCTCTCTCT CTCTCTCTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358517	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01978.hp1 HG02451.hp1 others(7): Show HG01099.hp2 HG01978.hp1 HG02451.hp1 HG02630.hp2 HG02970.hp2 HG03041.hp2 HG03834.hp1 NA18522.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0026 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0026 a0001c0001t0066 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0002t0049	a0001c0001t0001g0245 a0001c0001t0005g0249 a0001c0001t0026g0296 others(7): Show a0001c0001t0001g0245 a0001c0001t0005g0249 a0001c0001t0026g0296 a0001c0001t0066g0250 a0001c0002t0002g0084 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0006g0151 a0001c0002t0011g0221 a0001c0002t0049g0152	10	302	0.0331	-36	c.51+ others(53): Show c.51+17559_51+17594delCTCTCTCTCTCTCTCTCGCTCTCTCTCT CTCTCTCT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG4_chr17_66959707_67038398	66965176	ACACACAC others(29): Show ACACACACACATATACACACGCGCGCGCGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	352	0.0028	-36	c.220 others(49): Show c.220+56_220+91delTATACACACGCGCGCGCGCGCGCGCGCACACA CACA	CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
CACNG6_chr19_53986637_54017666	54016845	TGGAGTTT others(29): Show TGGAGTTTCAGTGAGCCGAGATCATGCCACTGCACTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	430	0.0023	-36	c.46 others(47): Show c.4657_*4692delGGAGTTTCAGTGAGCCGAGATCATGCCACTGCAC TC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		4180		chr19	TogoVar
CADM2_chr3_84953989_86079429	85212812	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	146	0.0069	-36	c.61+ others(55): Show c.61+253184_61+253219delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321112	ATATATTT others(29): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0139 a0001c0002t0046g0139	1	146	0.0069	-36	c.61+ others(55): Show c.61+361446_61+361481delATATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321114	ATATTTTT others(29): Show ATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0066 a0001c0001t0009g0066	1	146	0.0069	-36	c.61+ others(55): Show c.61+361448_61+361483delATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	86075370	AAAATTGT others(29): Show AAAATTGTAATTATACAATGCATCTTATGATTTAAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	146	0.0069	-36	c.85 others(47): Show c.8588_*8623delAAATTGTAATTATACAATGCATCTTATGATTTAA GC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding		942		chr3	TogoVar
CADPS2_chr7_122313411_122891460	122323871	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01175.hp2 HG01243.hp2 others(13): Show HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01346.hp2 HG01978.hp1 HG02280.hp2 HG02683.hp2 HG02970.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03942.hp2 NA18522.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0043 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0002t0001g0012 a0001c0002t0001g0019 a0001c0002t0001g0123 a0001c0003t0001g0035 a0001c0003t0001g0110 a0001c0003t0001g0126 a0001c0004t0001g0111 a0004c0008t0001g0092	16	126	0.1270	-36	c.371 others(55): Show c.3717+1570_3717+1605delTATATATATATATATATATATATATA TATATATAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	29/29			chr7	TogoVar
CALCRL_chr2_187336964_187453252	187341096	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02818.hp2 HG01074.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0078 a0001c0001t0008g0026 a0001c0001t0003g0078 a0001c0001t0008g0026	2	344	0.0058	-36	c.50 others(47): Show c.5052_*5087delATATATATATATATATATATATATATATATATAT AT	CALCRL	ENSG00000064989.13	transcript	ENST00000392370.8	protein_coding		867		chr2	TogoVar
CALM1_chr14_90392029_90413268	90412256	GAGCACAT others(29): Show GAGCACATTCTTACTAGGCTGGAATCTGCTTCCTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	408	0.0025	-36	c.75 others(47): Show c.7540_*7575delAGCACATTCTTACTAGGCTGGAATCTGCTTCCTT TT	CALM1	ENSG00000198668.14	transcript	ENST00000356978.9	protein_coding		3989		chr14	TogoVar
CALN1_chr7_71774491_72417338	71798089	CAGAGAGA others(29): Show CAGAGAGAGAGACAGAGAGAGACAGAGACAGAGACAG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02895.hp1 HG02897.hp2 others(3): Show HG02486.hp1 HG02895.hp1 HG02897.hp2 NA18747.hp1 NA18747.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0060	a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0002g0096 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0002g0096 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0060g0141	6	142	0.0423	-36	c.659 others(55): Show c.659-10223_659-10188delCTGTCTCTGTCTCTGTCTCTCTCTGT CTCTCTCTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72192625	TTTATTAT others(29): Show TTTATTATTATTATTATTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG03130.hp1 others(1): Show HG02486.hp2 HG02717.hp1 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0049 a0001c0001t0010 a0001c0001t0015 a0001c0001t0049	a0001c0001t0010g0114 a0001c0001t0015g0026 a0001c0001t0015g0042 others(1): Show a0001c0001t0010g0114 a0001c0001t0015g0026 a0001c0001t0015g0042 a0001c0001t0049g0130	4	142	0.0282	-36	c.244 others(55): Show c.244+86025_244+86060delTAATAATAATAATAATAATAATAATA ATAATAATAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12776084	AGGTGAGA others(29): Show AGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp2 HG02735.hp1 others(3): Show HG01258.hp1 HG01981.hp2 HG02735.hp1 HG03491.hp1 HG03492.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0017 a0001c0001t0030 others(3): Show a0001c0001t0007 a0001c0001t0017 a0001c0001t0030 a0001c0001t0070 a0001c0001t0082 a0001c0003t0022	a0001c0001t0007g0183 a0001c0001t0017g0200 a0001c0001t0030g0188 others(3): Show a0001c0001t0007g0183 a0001c0001t0017g0200 a0001c0001t0030g0188 a0001c0001t0070g0123 a0001c0001t0082g0067 a0001c0003t0022g0024	6	214	0.0280	-36	c.565 others(53): Show c.565+6287_565+6322delGTGAGACTGTGAGAAGGCTCAGGCATTG ATCAGGTG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227342	AAGGGGGT others(29): Show AAGGGGGTGTGGAAGACAGGAGGTGTGGGGGACAGAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0060 a0001c0007t0009g0060	1	242	0.0041	-36	c.146 others(53): Show c.1469-734_1469-699delGTCTGTCCCCCACACCTCCTGTCTTCCA CACCCCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMTA1_chr1_6780454_7774706	7602080	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02647.hp1 HG01884.hp2 HG02055.hp2 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0017 a0001c0002 a0001c0016 a0001c0017	a0001c0002t0003 a0001c0016t0024 a0001c0017t0026 a0001c0002t0003 a0001c0016t0024 a0001c0017t0026	a0001c0002t0003g0006 a0001c0016t0024g0053 a0001c0017t0026g0027 a0001c0002t0003g0006 a0001c0016t0024g0053 a0001c0017t0026g0027	3	58	0.0517	-36	c.511 others(55): Show c.511-38290_511-38255delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN12_chr19_38725192_38749474	38736008	AGGTCTCG others(29): Show AGGTCTCGGGGGTCTCGGGGGTCTCGGGGGTCTCGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp2 HG01175.hp1 others(2): Show HG00140.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021	a0001c0001t0006g0253 a0001c0001t0006g0257 a0001c0001t0009g0254 others(2): Show a0001c0001t0006g0253 a0001c0001t0006g0257 a0001c0001t0009g0254 a0001c0001t0009g0255 a0001c0001t0021g0256	5	342	0.0146	-36	c.158 others(52): Show c.1583+66_1583+101delCCCGAGACCCCCGAGACCCCCGAGACCCC CGAGACC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	553027	GCCACCCC others(29): Show GCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01981.hp2 HG01981.hp2	a0020 a0020	a0020c0066 a0020c0066	a0020c0066t0001 a0020c0066t0001	a0020c0066t0001g0248 a0020c0066t0001g0248	1	410	0.0024	-36	c.308 others(50): Show c.3083+5_3083+40delGCCCCCGCCCCTGCCCCCCCACCCCTGCACA GGTGC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223733958	ACGGTCCC others(29): Show ACGGTCCCAACTGCAGACTGGGTCCCAACTGCAGACT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0337 a0001c0002t0006g0337	1	378	0.0027	-36	c.308 others(55): Show c.308-10123_308-10088delGGGTCCCAACTGCAGACTCGGTCCCA ACTGCAGACT	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800274	GAAAGAAA others(29): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0345 a0001c0002t0001g0345	1	394	0.0025	-36	c.204 others(55): Show c.2047-1293_2047-1258delAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116890535	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01261.hp2 HG01884.hp2 others(5): Show HG00544.hp1 HG01261.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02886.hp2 HG03209.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0248 others(5): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0248 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0126 a0001c0001t0002g0145 a0001c0001t0002g0153	8	354	0.0226	-36	c.103 others(53): Show c.103+2373_104-2396delTATATACACATATATATATATATATATA TATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19476168	GTAGATAG others(29): Show GTAGATAGATAGATAGATAGATAGATAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01884.hp2 others(17): Show HG01106.hp2 HG01109.hp2 HG01884.hp2 HG01891.hp1 HG02258.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0018	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0082 others(17): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0163 a0001c0001t0001g0243 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0002g0036 a0001c0001t0014g0283 a0001c0001t0018g0043	20	364	0.0550	-36	c.3+9 others(49): Show c.3+9232_3+9267delTCTATCTATCTATCTATCTATCTATCTATCTA TCTA	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CARF_chr2_202907275_202993263	202980616	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0107 a0006c0010t0107	a0006c0010t0107g0026 a0006c0010t0107g0026	1	334	0.0030	-36	c.155 others(53): Show c.1559-928_1559-893delTATATATATATATATATATATATATATA TATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARS1_chr11_2995929_3062423	3032028	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01978.hp1 HG03195.hp1 others(2): Show HG01255.hp1 HG01978.hp1 HG03195.hp1 HG03710.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0001t0001g0218 a0001c0002t0001g0121 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0218 a0001c0002t0001g0121 a0001c0002t0001g0154 a0001c0002t0001g0162	5	321	0.0156	-36	c.802 others(53): Show c.802-2621_802-2586delAGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS1_chr11_2995929_3062423	3032032	CTCCCTCC others(29): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA19007.hp2 NA19070.hp2 HG03669.hp1 NA19007.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0170 a0001c0002t0001g0119 a0001c0002t0001g0151 a0001c0001t0001g0170 a0001c0002t0001g0119 a0001c0002t0001g0151	3	321	0.0094	-36	c.802 others(53): Show c.802-2625_802-2590delAGGAAGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CASC3_chr17_40135537_40177171	40140353	AACACACA others(29): Show AACACACACACACACACCCCAACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	266	0.0038	-36	c.-19 others(45): Show c.-195_-160delACACACACACACACACCCCAACACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		183		chr17	TogoVar
CASK_chrX_41509934_41928554	41510399	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02109.hp2 others(5): Show HG01167.hp1 HG01169.hp1 HG02109.hp2 HG02622.hp1 HG02896.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0006t0028	a0001c0001t0001g0136 a0001c0001t0007g0004 a0001c0001t0007g0005 others(5): Show a0001c0001t0001g0136 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0024g0003 a0001c0001t0025g0019 a0001c0001t0026g0008 a0001c0006t0028g0018	8	164	0.0488	-36	c.99 others(48): Show c.9985_*10020delATTATATATATATATATATATATATATATATAT ATA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding		4534		chrX	TogoVar
CASK_chrX_41509934_41928554	41611610	CCTCTCCC others(29): Show CCTCTCCCTCTCCCTCTCTCTCTCCCTCTCCCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(22): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01891.hp1 HG02109.hp2 HG02622.hp1 HG02683.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03579.hp1 HG04228.hp1 HG06807.hp2 NA18957.hp2 NA18973.hp2 NA18990.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0006t0028 a0001c0007t0027	a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0010 others(22): Show a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0024g0003 a0001c0001t0025g0019 a0001c0001t0026g0008 a0001c0006t0028g0018 a0001c0007t0027g0160	25	164	0.1524	-36	c.103 others(55): Show c.1034-1621_1034-1586delAGAGAGGGAGAGGGAGAGAGAGAGGG AGAGGGAGAG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	11/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18983.hp1 NA18965.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0094 a0001c0001t0001g0095	2	164	0.0122	-36	c.172 others(55): Show c.172+23383_172+23418delATATATATATATATATATATATATAT ATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar

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