Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
CAPN9_chr1_230742388_230806989	230751583	AACAAAGA others(19): Show AACAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01346.hp1 HG02135.hp2 others(7): Show HG00673.hp2 HG01346.hp1 HG02135.hp2 HG02683.hp1 NA18969.hp1 NA18972.hp1 NA18989.hp2 NA18998.hp1 NA19081.hp1 NA19089.hp2	a0001 a0014 a0021 a0001 a0014 a0021	a0001c0002 a0001c0005 a0001c0018 others(2): Show a0001c0002 a0001c0005 a0001c0018 a0014c0034 a0021c0033	a0001c0002t0001 a0001c0005t0001 a0001c0018t0001 others(2): Show a0001c0002t0001 a0001c0005t0001 a0001c0018t0001 a0014c0034t0001 a0021c0033t0001	a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 others(7): Show a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0005t0001g0293 a0001c0018t0001g0292 a0014c0034t0001g0245 a0021c0033t0001g0340	10	394	0.0254	-26	c.214 others(43): Show c.214-3752_214-3727delCAAAGAAAGAAAGAAAGAAAGAAAGA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19				INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(19): Show CAAAGAAAGAAAGAAAGAAAGAAAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01070.hp1 others(39): Show HG00280.hp2 HG00609.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02109.hp2 HG02132.hp2 HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03209.hp2 HG03453.hp2 HG06807.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18993.hp1 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19077.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0017 a0002c0006 a0002c0009 a0003c0004 a0005c0008 a0008c0011	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0005t0001 a0001c0017t0001 a0002c0006t0001 a0002c0009t0001 a0003c0004t0001 a0005c0008t0001 a0008c0011t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0048 others(39): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0048 a0001c0001t0001g0074 a0001c0001t0001g0268 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0003t0001g0361 a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0003t0001g0364 a0001c0003t0001g0366 a0001c0003t0001g0367 a0001c0003t0001g0369 a0001c0003t0001g0372 a0001c0003t0001g0373 a0001c0003t0001g0374 a0001c0003t0001g0388 a0001c0003t0003g0365 a0001c0003t0004g0368 a0001c0005t0001g0033 a0001c0005t0001g0034 a0001c0005t0001g0035 a0001c0005t0001g0047 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0017t0001g0370 a0001c0017t0001g0371 a0002c0006t0001g0018 a0002c0006t0001g0019 a0002c0006t0001g0020 a0002c0006t0001g0021 a0002c0006t0001g0022 a0002c0006t0001g0267 a0002c0009t0001g0075 a0003c0004t0001g0246 a0005c0008t0001g0097 a0005c0008t0001g0241 a0005c0008t0001g0242 a0008c0011t0001g0076 a0008c0011t0001g0077 a0008c0011t0001g0078	42	394	0.1066	-26	c.214 others(43): Show c.214-3726_214-3701delGAAAGAAAGAAAGAAAGAAAGAAAGA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19				INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPS2_chr12_75270979_75335324	75311699	GGAAAAAA others(19): Show GGAAAAAAAAAAACAAAAAAAAAAACA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02818.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0014 a0001c0003t0002 a0001c0003t0014	a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0014g0045 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0014g0045	3	370	0.0081	-26	c.545 others(43): Show c.545+1123_545+1148delTGTTTTTTTTTTTGTTTTTTTTTTTC		CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16					chr12	TogoVar
CAPZA2_chr7_116857587_116927049	116890545	TATATATA others(19): Show TATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01255.hp2 HG01433.hp1 others(3): Show HG00323.hp1 HG01255.hp2 HG01433.hp1 HG02622.hp2 HG02886.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0001 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0243 others(3): Show a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0288 a0001c0001t0009g0225 a0001c0001t0012g0247	6	354	0.0170	-26	c.103 others(43): Show c.103+2379_104-2400delCACATATATATATATATATATATATA		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890571	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	354	0.0028	-26	c.103 others(43): Show c.103+2383_104-2396delTATATATATATATATATATATATATA		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116914432	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18522.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0331 a0001c0002t0016g0332 a0001c0002t0016g0331 a0001c0002t0016g0332	2	354	0.0057	-26	c.658 others(43): Show c.658-1615_658-1590delACACACACACACACACACACACACAC		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	8/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19471865	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0254 a0001c0001t0011g0254	1	364	0.0028	-26	c.3+1 others(41): Show c.3+13545_3+13570delTTTTTTTTTTTTTTTTTTTTTTTTTT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8					chr1	TogoVar
CARD11_chr7_2901142_3048867	2933696	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01071.hp2 others(1): Show HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0072 a0001c0003t0001g0089 a0001c0003t0001g0090 others(1): Show a0001c0003t0001g0072 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0005t0001g0303	4	322	0.0124	-26	c.151 others(43): Show c.1518+731_1518+756delAAGAAAGAAAGAAAGAAAGAAAGAAA		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	10/24					chr7	TogoVar
CARD19_chr9_93091217_93118283	93111869	TTGTTTCC others(19): Show TTGTTTCCAGAGAACTCAGATTGCACA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18972.hp2 NA18972.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0057 a0006c0010t0002g0057	1	358	0.0028	-26	c.305 others(35): Show c.305-9_321delTGTTTCCAGAGAACTCAGATTGCACA	p.Gln others(5): Show p.Gln102fs	CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding	4/6	305/552	102/183			chr9	TogoVar
CARD9_chr9_136358956_136378669	136372952	TGGCTGCA others(19): Show TGGCTGCAACAGAACTACCCATGTTGG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0052 a0001c0005t0001g0052	1	406	0.0025	-26	c.-17 others(41): Show c.-17+554_-17+579delCCAACATGGGTAGTTCTGTTGCAGCC		CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding	1/12					chr9	TogoVar
CARD9_chr9_136358956_136378669	136373567	ACACCAGG others(19): Show ACACCAGGAGCCTGGGCCGCGGAGCCT	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0130 a0001c0001t0010g0130	1	406	0.0025	-26	c.-78 others(33): Show c.-78_-53delAGGCTCCGCGGCCCAGGCTCCTGGTG		CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding	1/13			1490		chr9	TogoVar
CARF_chr2_202907275_202993263	202980616	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	334	0.0030	-26	c.155 others(43): Show c.1559-918_1559-893delTATATATATATATATATATATATATA		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16				INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986868	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG03130.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0263 a0001c0001t0031g0264 a0001c0001t0031g0263 a0001c0001t0031g0264	2	334	0.0060	-26	c.32 others(37): Show c.3259_*3284delTATATATATATATATATATATATATA		CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17			3259	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARMIL1_chr6_25274374_25625530	25450958	TCTCCTCT others(19): Show TCTCCTCTCTTCTCTTCTCCTCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19240.hp1 HG01243.hp2 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0008c0035 a0001c0004 a0008c0035	a0001c0004t0009 a0008c0035t0004 a0001c0004t0009 a0008c0035t0004	a0001c0004t0009g0182 a0008c0035t0004g0107 a0001c0004t0009g0182 a0008c0035t0004g0107	2	186	0.0108	-26	c.614 others(41): Show c.614+252_614+277delTCTCTTCTCTTCTCCTCTCCCCCTCC		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36				INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110677685	TCAGACAG others(19): Show TCAGACAGCCACCCCGCCACGGAAACC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01358.hp2 others(13): Show HG01074.hp1 HG01099.hp2 HG01358.hp2 HG01928.hp2 HG02148.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1 NA18993.hp2 NA19065.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0002c0004 a0001c0003 a0001c0009 a0002c0004	a0001c0003t0001 a0001c0009t0002 a0002c0004t0001 others(1): Show a0001c0003t0001 a0001c0009t0002 a0002c0004t0001 a0002c0004t0002	a0001c0003t0001g0018 a0001c0003t0001g0234 a0001c0003t0001g0247 others(12): Show a0001c0003t0001g0018 a0001c0003t0001g0234 a0001c0003t0001g0247 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0009t0002g0280 a0001c0009t0002g0281 a0001c0009t0002g0282 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0002g0043 a0002c0004t0002g0058	16	372	0.0430	-26	c.656 others(41): Show c.656-608_656-583delGGTTTCCGTGGCGGGGTGGCTGTCTG		CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14					chr13	TogoVar
CASK_chrX_41509934_41928554	41510388	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	164	0.0061	-26	c.10 others(39): Show c.10006_*10031delATATATATATATATATATATATATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding				4545		chrX	TogoVar
CASK_chrX_41509934_41928554	41510409	ATATATAT others(19): Show ATATATATATATATATATATATATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01071.hp2 others(13): Show HG00280.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG02683.hp1 HG03239.hp2 HG03490.hp1 HG04228.hp1 NA18957.hp2 NA18973.hp2 NA18990.hp1 NA19012.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 others(13): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0047	16	164	0.0976	-26	c.99 others(38): Show c.9985_*10010delATTATATATATATATATATATATATA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding				4524		chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03225.hp1 HG00099.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0161 a0001c0001t0021g0146 a0001c0001t0001g0161 a0001c0001t0021g0146	2	164	0.0122	-26	c.172 others(45): Show c.172+23393_172+23418delATATATATATATATATATATATATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26					chrX	TogoVar
CASP6_chr4_109683628_109708445	109706131	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18990.hp1 NA19055.hp1 NA18983.hp1 NA18990.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0184 a0001c0001t0003g0015 a0001c0001t0003g0050 a0001c0001t0002g0184 a0001c0001t0003g0015 a0001c0001t0003g0050	3	416	0.0072	-26	c.-27 others(37): Show c.-2762_-2737delTATATATATATATATATATATATATA		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding				2687		chr4	TogoVar
CASP9_chr1_15486401_15529215	15497310	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 NA19080.hp1 HG02040.hp1 HG02165.hp1 NA19080.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0086 a0002c0001t0001g0092 a0002c0001t0001g0101 a0002c0001t0001g0086 a0002c0001t0001g0092 a0002c0001t0001g0101	3	350	0.0086	-26	c.869 others(43): Show c.869-1884_869-1859delCTTTCTTTCTTTTTTTTTTTTTTTTT		CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding	6/8					chr1	TogoVar
CASQ1_chr1_160185575_160206886	160193953	CACATACA others(19): Show CACATACACCACACGCACACACACCAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	440	0.0023	-26	c.465 others(41): Show c.465+141_465+166delCACACGCACACACACCATACATACAC		CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding	3/10				INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5743667	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTTCCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG00642.hp1 HG02257.hp2	a0001 a0022 a0001 a0022	a0001c0001 a0022c0025 a0001c0001 a0022c0025	a0001c0001t0002 a0022c0025t0001 a0001c0001t0002 a0022c0025t0001	a0001c0001t0002g0147 a0022c0025t0001g0146 a0001c0001t0002g0147 a0022c0025t0001g0146	2	336	0.0060	-26	c.574 others(41): Show c.574-745_574-720delTCCTCTCTCTCTCTCTCTCTCTCTCT		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	7/21				INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	336	0.0030	-26	c.988 others(41): Show c.988-430_988-405delAAAAAAAAAAAAAAAAAAAAAAAAAA		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21				INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02145.hp1 HG03834.hp1 others(1): Show HG02074.hp1 HG02145.hp1 HG03834.hp1 HG03927.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0007c0011t0001 a0001c0001t0001 a0001c0001t0002 a0007c0011t0001	a0001c0001t0001g0033 a0001c0001t0001g0129 a0001c0001t0002g0047 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0129 a0001c0001t0002g0047 a0007c0011t0001g0105	4	206	0.0194	-26	c.103 others(45): Show c.1030-3110_1030-3085delTATATATATATATATATATATATATA		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21				INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03491.hp2 HG03492.hp2 others(2): Show HG02818.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0010 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0010 a0001c0001t0002g0134 a0001c0001t0004g0163	5	206	0.0243	-26	c.201 others(43): Show c.2010-912_2010-887delTATATATATATATATATATATATATA		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21				INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116533348	TAAATAAA others(19): Show TAAATAAAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00642.hp2 others(52): Show HG00140.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02257.hp2 HG02273.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03669.hp1 HG03834.hp1 HG04228.hp1 HG06807.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0009	a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0089 others(49): Show a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0082 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0276 a0001c0001t0004g0007 a0001c0001t0004g0064 a0001c0001t0004g0070 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0083 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0186 a0001c0001t0004g0308 a0001c0001t0004g0311 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0005g0006 a0001c0001t0005g0011 a0001c0001t0005g0092 a0001c0001t0005g0099 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0321 a0001c0001t0009g0062 a0001c0002t0009g0261	55	342	0.1608	-26	c.195 others(43): Show c.195+6662_195+6687delATAAAATAAAATAAAATAAAATAAAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2				INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555520	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	342	0.0029	-26	c.196 others(43): Show c.196-3422_196-3397delGAGAGAGAGAGAGAGAGAGAGAAAGA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2				INFO_REALIGN_3_PRIME	chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42401681	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02723.hp2 HG02451.hp1 HG02486.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0075 a0001c0001t0001g0011 a0001c0001t0001g0075	3	338	0.0089	-26	c.29 others(37): Show c.2980_*3005delTTCTTTCTTTCTTTCTTTCTTTCTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding				767		chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG01361.hp2 others(26): Show HG00558.hp1 HG00621.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG02132.hp1 HG02622.hp1 HG02698.hp2 HG02965.hp2 HG03130.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG04184.hp2 NA18939.hp2 NA18941.hp2 NA18956.hp2 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp2 NA19010.hp2 NA19066.hp1 NA19075.hp2 NA19084.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0038 a0001c0002t0002 a0001c0004t0006	a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 others(26): Show a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0098 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0003g0149 a0001c0001t0003g0154 a0001c0001t0005g0080 a0001c0001t0005g0146 a0001c0001t0006g0091 a0001c0001t0006g0157 a0001c0001t0014g0184 a0001c0001t0019g0082 a0001c0001t0019g0117 a0001c0001t0023g0076 a0001c0001t0038g0116 a0001c0002t0002g0200 a0001c0004t0006g0142	29	298	0.0973	-26	c.148 others(43): Show c.1489-555_1489-530delTATATATATATATATATATATATATA		CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10				INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88882563	GGCATGGC others(19): Show GGCATGGCTGTGGGCGTGGCTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(82): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp2 HG02572.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03669.hp1 HG04184.hp1 HG04204.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18945.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19087.hp1 NA19088.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0001c0018 others(1): Show a0001c0001 a0001c0006 a0001c0018 a0005c0012	a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 others(6): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0026 a0001c0001t0027 a0001c0006t0001 a0001c0018t0001 a0005c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(82): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0013g0001 a0001c0001t0018g0261 a0001c0001t0019g0065 a0001c0001t0026g0064 a0001c0001t0027g0156 a0001c0006t0001g0020 a0001c0006t0001g0211 a0001c0018t0001g0263 a0005c0012t0001g0121	85	284	0.2993	-26	c.120 others(42): Show c.1203+87_1203+112delACACACAGCCACGCCCACAGCCATGC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	8/11					chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88915584	GGGGGAGC others(19): Show GGGGGAGCGTGGAGGGGGGAGCGTAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0011 a0001c0021t0011	a0001c0021t0011g0077 a0001c0021t0011g0077	1	284	0.0035	-26	c.152 others(45): Show c.152-13954_152-13929delTCTACGCTCCCCCCTCCACGCTCCCC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11					chr16	TogoVar
CBLC_chr19_44772890_44805652	44800827	CCCTCCTC others(19): Show CCCTCCTCCCTCAGACCCAGGAGTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0029 a0003c0005t0001g0029	1	344	0.0029	-26	c.28 others(35): Show c.285_*310delCCTCCTCCCTCAGACCCAGGAGTCCA		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding				176		chr19	TogoVar
CBL_chr11_119201339_119313149	119212391	TGAGGTGG others(19): Show TGAGGTGGGTGGATCACCTGAGGTCAG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0223 a0001c0001t0029g0223	1	364	0.0028	-26	c.195 others(43): Show c.195+5783_195+5808delGTGGGTGGATCACCTGAGGTCAGGAG		CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	1/15				INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR3_chr21_36130079_36151562	36137502	GAAAGGAA others(19): Show GAAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	424	0.0024	-26	c.290 others(41): Show c.290-321_290-296delAAGGAAGGAAGGAAGGAAGGAAGGAA		CBR3	ENSG00000159231.6	transcript	ENST00000290354.6	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr21	TogoVar
CC2D2A_chr4_15464882_15606552	15470683	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0136 a0001c0004t0002g0136	1	344	0.0029	-26	c.-19 others(41): Show c.-19+628_-19+653delCTCTCTATATATATATATATATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36				INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2A_chr4_15464882_15606552	15470685	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0177 a0001c0004t0002g0177	1	344	0.0029	-26	c.-19 others(41): Show c.-19+630_-19+655delCTCTATATATATATATATATATATAT		CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36				INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2B_chr10_95902975_96038745	96029260	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0007 a0007c0009t0001g0007	1	312	0.0032	-26	c.412 others(45): Show c.4125+1891_4125+1916delATATATGTATATATATATATATATAT		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	34/34				INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59658350	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02622.hp1 HG02738.hp2 HG00733.hp2 HG02622.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0036 a0001c0001t0002 a0001c0001t0003 a0001c0001t0036	a0001c0001t0002g0016 a0001c0001t0003g0086 a0001c0001t0036g0155 a0001c0001t0002g0016 a0001c0001t0003g0086 a0001c0001t0036g0155	3	242	0.0124	-26	c.212 others(45): Show c.212+38253_212+38278delATATATATATATATATATATATTTTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10					chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658352	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA21309.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0154 a0001c0001t0009g0153 a0001c0001t0001g0154 a0001c0001t0009g0153	2	242	0.0083	-26	c.212 others(45): Show c.212+38251_212+38276delATATATATATATATATATATATATTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10					chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658354	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	242	0.0041	-26	c.212 others(45): Show c.212+38249_212+38274delATATATATATATATATATATATATAT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10					chr18	TogoVar
CCDC102A_chr16_57507181_57541571	57531256	GCTCCTCC others(19): Show GCTCCTCCGAGAGAAGGCACTTCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03688.hp2 HG03831.hp1 HG00639.hp1 HG03688.hp2 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0240 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0240	3	416	0.0072	-26	c.-14 others(45): Show c.-147-1958_-147-1933delTGAGGAAGTGCCTTCTCTCGGAGGAG		CCDC102A	ENSG00000135736.6	transcript	ENST00000258214.3	protein_coding	1/8					chr16	TogoVar
CCDC121_chr2_27620638_27634012	27632443	TGCTGCTG others(19): Show TGCTGCTGATGTGGCTGTGTTGCTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-26	c.-36 others(37): Show c.-3638_-3613delTAAAGCAACACAGCCACATCAGCAGC		CCDC121	ENSG00000176714.10	transcript	ENST00000324364.4	protein_coding				3432		chr2	TogoVar
CCDC125_chr5_69275175_69337801	69286188	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01952.hp2 HG02683.hp2 others(2): Show HG01168.hp1 HG01952.hp2 HG02683.hp2 HG03490.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0190 a0001c0001t0004g0166 a0001c0001t0004g0167 others(2): Show a0001c0001t0001g0190 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0172 a0001c0001t0004g0176	5	341	0.0147	-26	c.110 others(43): Show c.1100-747_1100-722delTATATATATATATATATATATATATA		CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding	10/11					chr5	TogoVar
CCDC126_chr7_23592382_23649708	23600374	ACCCCCCC others(19): Show ACCCCCCCCCCCCCACCACCATATTAG	A A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	380	0.0026	-26	c.-14 others(45): Show c.-146+2326_-146+2351delCCCCCCCCCCCACCACCATATTAGCC		CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	2/3				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC12_chr3_46916730_46981745	46941713	CAGGCCAG others(19): Show CAGGCCAGCAGTCACCTTCATGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18906.hp1 HG01891.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0024 a0001c0002t0001g0025	2	354	0.0057	-26	c.97- others(39): Show c.97-674_97-649delAGACCCATGAAGGTGACTGCTGGCCT		CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6					chr3	TogoVar
CCDC138_chr2_108781771_108881578	108853966	AAATATAT others(19): Show AAATATATATAATATATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	220	0.0046	-26	c.151 others(45): Show c.1517-2825_1517-2800delTATATATAATATATAATATATAATAA		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC146_chr7_77117615_77300204	77250973	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp2 HG01884.hp2 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0029 a0003c0011 a0001c0029 a0003c0011	a0001c0029t0002 a0003c0011t0001 a0001c0029t0002 a0003c0011t0001	a0001c0029t0002g0213 a0003c0011t0001g0138 a0001c0029t0002g0213 a0003c0011t0001g0138	2	248	0.0081	-26	c.450 others(43): Show c.450-3505_450-3480delGTGTGTGTGTGTGTGTGTGTGTGTGT		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	4/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC146_chr7_77117615_77300204	77259939	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG02698.hp1 others(12): Show HG00642.hp2 HG01081.hp1 HG02698.hp1 HG02738.hp1 NA18944.hp1 NA18946.hp2 NA18957.hp1 NA18964.hp1 NA18971.hp1 NA18981.hp2 NA18994.hp1 NA19054.hp1 NA19062.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0019 a0002c0002 a0001c0005 a0001c0019 a0002c0002	a0001c0005t0001 a0001c0005t0002 a0001c0019t0001 others(1): Show a0001c0005t0001 a0001c0005t0002 a0001c0019t0001 a0002c0002t0001	a0001c0005t0001g0137 a0001c0005t0001g0143 a0001c0005t0001g0144 others(12): Show a0001c0005t0001g0137 a0001c0005t0001g0143 a0001c0005t0001g0144 a0001c0005t0001g0146 a0001c0005t0001g0147 a0001c0005t0001g0148 a0001c0005t0001g0149 a0001c0005t0001g0151 a0001c0005t0001g0152 a0001c0005t0001g0154 a0001c0005t0001g0215 a0001c0005t0001g0216 a0001c0005t0002g0134 a0001c0019t0001g0150 a0002c0002t0001g0197	15	248	0.0605	-26	c.759 others(39): Show c.759-37_759-12delGTGTGTGTGTGTGTGTGTGTGTGTGT		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	7/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC146_chr7_77117615_77300204	77271513	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02572.hp1 others(11): Show HG01884.hp1 HG02109.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 NA19043.hp2 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0007 a0003c0003 a0003c0010 others(3): Show a0001c0007 a0003c0003 a0003c0010 a0003c0011 a0003c0017 a0004c0018	a0001c0007t0002 a0003c0003t0002 a0003c0010t0001 others(3): Show a0001c0007t0002 a0003c0003t0002 a0003c0010t0001 a0003c0011t0001 a0003c0017t0001 a0004c0018t0001	a0001c0007t0002g0078 a0003c0003t0002g0002 a0003c0003t0002g0005 others(11): Show a0001c0007t0002g0078 a0003c0003t0002g0002 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0002g0007 a0003c0003t0002g0008 a0003c0003t0002g0011 a0003c0010t0001g0044 a0003c0010t0001g0073 a0003c0010t0001g0234 a0003c0011t0001g0004 a0003c0017t0001g0206 a0003c0017t0001g0207 a0004c0018t0001g0218	14	248	0.0565	-26	c.117 others(45): Show c.1174-2150_1174-2125delATATATATATATATATATATATATAT		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	9/18				INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC149_chr4_24798514_24918042	24817531	GGGTCTTC others(19): Show GGGTCTTCTTACCCAGTGATAAGAAGT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18950.hp1 NA18959.hp2 others(3): Show HG04204.hp1 NA18950.hp1 NA18959.hp2 NA18965.hp2 NA18966.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0031 a0001c0003t0002 a0001c0001t0010 a0001c0001t0031 a0001c0003t0002	a0001c0001t0010g0150 a0001c0001t0010g0196 a0001c0001t0010g0197 others(3): Show a0001c0001t0010g0150 a0001c0001t0010g0196 a0001c0001t0010g0197 a0001c0001t0010g0207 a0001c0001t0031g0195 a0001c0003t0002g0018	6	354	0.0170	-26	c.117 others(45): Show c.1177+2302_1177+2327delACTTCTTATCACTGGGTAAGAAGACC		CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	12/12					chr4	TogoVar

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