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
CAPN12_chr19_38725192_38749474	38735972	C C	CGGGGGTT others(33): Show CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0005	a0004c0008t0005g0288 a0004c0008t0005g0288	1	342	0.0029	40	c.158 others(57): Show c.1583+137_1583+138insCAGAACCCCCGCCCCGCCCCGCCCCGCC CCCAGAACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN3_chr15_42354501_42417317	42380751	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0003 a0009c0017t0003	a0009c0017t0003g0009 a0009c0017t0003g0009	1	306	0.0033	40	c.310 others(57): Show c.310-3731_310-3730insATATATATATATATATATATATATATTT TTTTTTTTTTTT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPRIN1_chr11_34046731_34107610	34079905	G G	GTTTTTTG others(33): Show GTTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	246	0.0041	40	c.826 others(55): Show c.826+146_826+147insGTTTTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPZB_chr1_19333775_19490539	19366283	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02055.hp2 HG02809.hp2 others(5): Show HG01256.hp2 HG02055.hp2 HG02809.hp2 NA18612.hp2 NA18747.hp1 NA18989.hp2 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0208 a0001c0001t0001g0222 others(5): Show a0001c0001t0001g0120 a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0289 a0001c0001t0004g0153 a0001c0002t0001g0063	8	364	0.0220	40	c.330 others(57): Show c.330-8721_330-8720insATATATATATATATATATATATATATAT ATATATATATAT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	4/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2913168	A A	AGAGGGAA others(33): Show AGAGGGAAGAGAAGAGGGGAGGAGGGAAGAGAAGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG02145.hp1 others(4): Show HG00423.hp1 HG00597.hp2 HG02145.hp1 HG02300.hp1 NA18747.hp2 NA18973.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 others(1): Show a0001c0001 a0001c0004 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0004t0001 a0001c0009t0002 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0009t0002 a0001c0016t0001	a0001c0001t0001g0076 a0001c0001t0001g0154 a0001c0001t0001g0206 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0154 a0001c0001t0001g0206 a0001c0004t0001g0239 a0001c0009t0002g0012 a0001c0009t0002g0212 a0001c0016t0001g0094	7	322	0.0217	40	c.301 others(56): Show c.3019+79_3019+118dupCTCCCCTCTTCTCTTCCCTCCTCCCCTCT TCTCTTCCCTC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	22/24			chr7	TogoVar
CARD14_chr17_80165030_80214331	80165033	C C	CATTTTAT others(33): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG03710.hp1 HG04184.hp2 others(1): Show HG00099.hp1 HG03710.hp1 HG04184.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0025 a0002c0002 a0005c0004 a0001c0025 a0002c0002 a0005c0004	a0001c0025t0004 a0002c0002t0001 a0005c0004t0001 a0001c0025t0004 a0002c0002t0001 a0005c0004t0001	a0001c0025t0004g0010 a0001c0025t0004g0011 a0002c0002t0001g0023 others(1): Show a0001c0025t0004g0010 a0001c0025t0004g0011 a0002c0002t0001g0023 a0005c0004t0001g0012	4	376	0.0106	40	c.-57 others(51): Show c.-5713_-5712insATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTT	CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding		4996		chr17	TogoVar
CARM1_chr19_10866553_10928075	10906861	C C	CTTTATTT others(33): Show CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	354	0.0028	40	c.347 others(57): Show c.347-1154_347-1115dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTT	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25313683	G G	GCATATAT others(33): Show GCATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01361.hp1 HG02135.hp2 others(4): Show HG00597.hp1 HG01361.hp1 HG02135.hp2 HG02970.hp1 NA18970.hp2 NA19063.hp2 NA20805.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0018 a0003c0024 a0005c0030	a0001c0001t0001 a0001c0001t0003 a0001c0004t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0004 a0001c0006t0003 a0001c0018t0001 a0003c0024t0008 a0005c0030t0005	a0001c0001t0001g0076 a0001c0001t0003g0071 a0001c0004t0004g0023 others(4): Show a0001c0001t0001g0076 a0001c0001t0003g0071 a0001c0004t0004g0023 a0001c0006t0003g0069 a0001c0018t0001g0075 a0003c0024t0008g0019 a0005c0030t0005g0159	7	186	0.0376	40	c.138 others(59): Show c.138+28774_138+28775insCATATATATATATATATATATATATA TATATATATATATA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25393037	C C	CATGGTGA others(33): Show CATGGTGAGAGGCATGGTGAGAGGCATGAAATGAGTGATTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0036 a0001c0004t0004g0039 a0001c0004t0004g0036 a0001c0004t0004g0039	2	186	0.0108	40	c.139 others(59): Show c.139-27062_139-27061insGTGAGAGGCATGAAATGAGTGATTTA TGGTGAGAGGCATG	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25450980	T T	TCCTCTCC others(33): Show TCCTCTCCTCTCTTCTCTTCTCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03654.hp2 HG02970.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0002 a0001c0001t0008 a0001c0006t0002	a0001c0001t0008g0101 a0001c0006t0002g0131 a0001c0001t0008g0101 a0001c0006t0002g0131	2	186	0.0108	40	c.614 others(55): Show c.614+271_614+272insTCTCCTCTCTTCTCTTCTCCTCTCCCCTCT CCCCTCTCCC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(33): Show TTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	321	0.0031	40	c.802 others(57): Show c.802-2554_802-2553insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110679591	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	372	0.0027	40	c.656 others(57): Show c.656-2489_656-2488insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTCTCTCT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASR_chr3_122178668_122296629	122252407	G G	GTAGGAAG others(33): Show GTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp1 HG02717.hp1 others(4): Show HG01167.hp1 HG01261.hp1 HG02717.hp1 HG02809.hp2 HG06807.hp1 NA20805.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0004c0003t0004	a0001c0001t0001g0143 a0001c0001t0003g0016 a0001c0001t0003g0027 others(3): Show a0001c0001t0001g0143 a0001c0001t0003g0016 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0005g0013 a0004c0003t0004g0002	7	314	0.0223	40	c.-24 others(59): Show c.-242-1541_-242-1540insTAGGAAGGAAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(33): Show AGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02922.hp2 NA19030.hp1 HG00642.hp1 HG02922.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0031 a0001c0001t0001 a0001c0001t0003 a0001c0001t0031	a0001c0001t0001g0144 a0001c0001t0003g0024 a0001c0001t0031g0145 a0001c0001t0001g0144 a0001c0001t0003g0024 a0001c0001t0031g0145	3	314	0.0096	40	c.-24 others(59): Show c.-242-1539_-242-1538insGGAAAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(33): Show AGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	314	0.0032	40	c.-24 others(59): Show c.-242-1539_-242-1538insGGAAGGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGA others(33): Show AGGAAGGAAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp2 NA18966.hp1 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0016 a0002c0002t0002 a0002c0002t0016	a0002c0002t0002g0218 a0002c0002t0016g0086 a0002c0002t0002g0218 a0002c0002t0016g0086	2	314	0.0064	40	c.-24 others(59): Show c.-242-1539_-242-1538insGGAAGGAAGGAAGGAAAAAGAAAGAA AGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAGGT others(33): Show AGGAAGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp2 HG02809.hp1 others(2): Show HG00639.hp1 HG02615.hp2 HG02809.hp1 HG03209.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0006 a0003c0005t0015 a0001c0001t0003 a0001c0001t0006 a0003c0005t0015	a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0006g0104 others(2): Show a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0006g0104 a0001c0001t0006g0122 a0003c0005t0015g0151	5	314	0.0159	40	c.-24 others(59): Show c.-242-1539_-242-1538insGGAAGGTAGGAAGGAAAAAGAAAGAA AGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGTAGGA others(33): Show AGGTAGGAAGGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp2 HG01516.hp2 others(4): Show HG01106.hp2 HG01361.hp2 HG01516.hp2 HG02055.hp2 HG03209.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013	a0001c0001t0001g0019 a0001c0001t0005g0181 a0001c0001t0007g0138 others(4): Show a0001c0001t0001g0019 a0001c0001t0005g0181 a0001c0001t0007g0138 a0001c0001t0007g0140 a0001c0001t0009g0108 a0001c0001t0009g0133 a0001c0001t0013g0102	7	314	0.0223	40	c.-24 others(59): Show c.-242-1539_-242-1538insGGTAGGAAGGAAAAAGAAAGAAAGAA AGAAAGAAAGAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74965882	A A	ACACACAC others(33): Show ACACACACACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	1	228	0.0044	40	c.113 others(55): Show c.113+785_113+786insACACACACACACACACACACACTCTCTCTC TCTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74965905	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	228	0.0044	40	c.113 others(55): Show c.113+815_113+816insTCTCTCTGTCTGTCTCTCTCTCTCTCTCTC TGTCTCTCTC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74966010	C C	CCGAGGGG others(33): Show CCGAGGGGAGTGTGAGTGCCAGCTAGCTGCTGTAACTTAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0177 a0001c0001t0030g0177	1	228	0.0044	40	c.113 others(55): Show c.113+913_113+952dupCGAGGGGAGTGTGAGTGCCAGCTAGCTGCT GTAACTTAAG	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASZ1_chr1_10631604_10801646	10785135	T T	TCTTTCCT others(33): Show TCTTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02055.hp2 others(14): Show HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp2 HG03130.hp1 HG03540.hp1 NA18906.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0022 a0002c0037 a0003c0007 a0006c0017 a0011c0042	a0001c0001t0014 a0001c0002t0001 a0001c0002t0007 others(11): Show a0001c0001t0014 a0001c0002t0001 a0001c0002t0007 a0001c0002t0017 a0001c0003t0002 a0001c0003t0006 a0001c0004t0002 a0001c0004t0023 a0001c0012t0001 a0001c0022t0002 a0002c0037t0061 a0003c0007t0016 a0006c0017t0042 a0011c0042t0002	a0001c0001t0014g0224 a0001c0002t0001g0065 a0001c0002t0007g0060 others(14): Show a0001c0001t0014g0224 a0001c0002t0001g0065 a0001c0002t0007g0060 a0001c0002t0017g0062 a0001c0003t0002g0050 a0001c0003t0002g0053 a0001c0003t0006g0052 a0001c0003t0006g0054 a0001c0004t0002g0225 a0001c0004t0023g0086 a0001c0012t0001g0051 a0001c0012t0001g0058 a0001c0022t0002g0063 a0002c0037t0061g0174 a0003c0007t0016g0064 a0006c0017t0042g0059 a0011c0042t0002g0055	17	236	0.0720	40	c.-23 others(61): Show c.-234+11428_-234+11429insGAGGGAGGAAGGGAGGGAGGAAGG AAGGGAGGAAGGAAAG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10785135	T T	TCTTTCCT others(33): Show TCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0007 a0001c0002t0029g0007	1	236	0.0042	40	c.-23 others(61): Show c.-234+11428_-234+11429insGAGGGAGGAAGGGAGGGAGGGAGG GAGGAAGGAAGGAAAG	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	1/20			chr1	TogoVar
CATSPER3_chr5_134962907_135016696	135009569	T T	TGTGCCTG others(33): Show TGTGCCTGTGTAGAGAGCAGGTGGCCTCAGGCATCTGCAGC	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	380	0.0026	40	c.936 others(53): Show c.936+80_936+81insTGCCTGTGTAGAGAGCAGGTGGCCTCAGGCAT CTGCAGCG	CATSPER3	ENSG00000152705.8	transcript	ENST00000282611.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG02056.hp2 HG02280.hp1 others(9): Show HG01981.hp2 HG02056.hp2 HG02280.hp1 HG02280.hp2 HG02965.hp1 HG03540.hp1 NA18953.hp2 NA18960.hp2 NA18978.hp1 NA19009.hp2 NA19030.hp1 NA19064.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0002c0002t0002 a0003c0004t0001 a0001c0001t0002 a0002c0002t0002 a0003c0004t0001	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0101 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0101 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0002g0179 a0002c0002t0002g0011 a0002c0002t0002g0116 a0002c0002t0002g0144 a0002c0002t0002g0151 a0002c0002t0002g0152 a0003c0004t0001g0061	12	398	0.0302	40	c.39 others(51): Show c.3939_*3940insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA20805.hp2 NA18942.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0001 a0001c0001t0001 a0004c0003t0001	a0001c0001t0001g0006 a0004c0003t0001g0179 a0001c0001t0001g0006 a0004c0003t0001g0179	2	336	0.0060	40	c.142 others(59): Show c.1428-1156_1428-1155insATATATATATATATATATATATATAT ATATATTTTTTTTT	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(33): Show ATATATATATATATATATATATATGTATTATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0280 a0002c0002t0001g0280	1	336	0.0030	40	c.142 others(59): Show c.1428-1156_1428-1155insATATATATATATATATATATATGTAT TATTTTTTTTTTTT	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(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18971.hp2 HG01175.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0003g0129 a0001c0001t0001g0130 a0001c0001t0003g0129	2	342	0.0059	40	c.195 others(57): Show c.195+7707_195+7708insATATATATATATATATATATATATATTT TTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33536556	T T	TAGGGGCT others(33): Show TAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp2 HG01070.hp2 others(34): Show HG00438.hp1 HG00738.hp2 HG01070.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG01981.hp1 HG02155.hp2 HG02273.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18960.hp2 NA18964.hp2 NA18975.hp2 NA19012.hp2 NA20300.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0036 a0003c0009t0029	a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 others(34): Show a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0007g0067 a0001c0001t0007g0069 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0011g0064 a0001c0001t0011g0066 a0001c0001t0036g0018 a0003c0009t0029g0283	37	298	0.1242	40	c.34+ others(57): Show c.34+46285_34+46324dupCTGCCGGGCGGAGGGGCTCCTCACTTCT CAGACGGGGCGG	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33545010	T T	TAGAACAG others(33): Show TAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG06807.hp1 HG02486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0291 a0001c0001t0011g0062 a0001c0001t0004g0291 a0001c0001t0011g0062	2	298	0.0067	40	c.34+ others(57): Show c.34+54723_34+54724insCAGAACAGAACAGAACAGAACAGAACAG AACAGAACAGAA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88893225	C C	CCACACAC others(33): Show CCACACACAGGCGCCTCCCAGCCCTGAGCAATGTGCCTCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03540.hp2 HG02145.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0118 a0001c0003t0002g0253 a0001c0001t0001g0118 a0001c0003t0002g0253	2	284	0.0070	40	c.380 others(55): Show c.380-741_380-740insCGGAGGCACATTGCTCAGGGCTGGGAGGCG CCTGTGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBL_chr11_119201339_119313149	119283625	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	364	0.0028	40	c.143 others(59): Show c.1432-1314_1432-1313insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	CBL	ENSG00000110395.8	transcript	ENST00000264033.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
CBR1_chr21_36065024_36078164	36071781	T T	TGAAAAAA others(33): Show TGAAAAAAAAAAGAAATAAAAAAAAAAAAAAGGAAGGAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	430	0.0023	40	c.398 others(55): Show c.398-664_398-663insAAAAAAAAAAGAAATAAAAAAAAAAAAAAG GAAGGAAAAG	CBR1	ENSG00000159228.13	transcript	ENST00000290349.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr21	TogoVar
CC2D1A_chr19_13901201_13935879	13926065	T T	TATATATA others(33): Show TATATATATATATACGTATATATATGTATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 NA20300.hp1 HG01884.hp1 HG02965.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0007 a0004c0005t0001g0007	3	370	0.0081	40	c.194 others(57): Show c.1941-451_1941-450insTATATATATATACGTATATATATGTATA TATACACACACA	CC2D1A	ENSG00000132024.18	transcript	ENST00000318003.11	protein_coding	17/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCAR2_chr8_22599757_22625471	22611404	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0209 a0001c0003t0006g0209	1	376	0.0027	40	c.585 others(57): Show c.585-1612_585-1611insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTAT	CCAR2	ENSG00000158941.17	transcript	ENST00000308511.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCBE1_chr18_59425939_59702423	59573284	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02738.hp2 HG03209.hp1 others(3): Show HG00140.hp2 HG02738.hp2 HG03209.hp1 HG03834.hp2 NA18981.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021	a0001c0001t0001g0132 a0001c0001t0003g0040 a0001c0001t0003g0086 others(3): Show a0001c0001t0001g0132 a0001c0001t0003g0040 a0001c0001t0003g0086 a0001c0001t0004g0108 a0001c0001t0004g0113 a0001c0001t0021g0125	6	242	0.0248	40	c.213 others(59): Show c.213-93047_213-93046insATATATATATATATATATATATATAT ATATATATATATAT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	440	0.0023	40	c.676 others(57): Show c.676-1742_676-1741insATATATATATATATATATATATATATAT ATATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC105_chr19_15005726_15028276	15018732	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp2 HG01361.hp1 others(5): Show HG01081.hp1 HG01192.hp2 HG01361.hp1 HG01934.hp2 HG02735.hp1 HG02970.hp1 HG03209.hp2 NA19065.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0004 a0013c0017 a0001c0001 a0001c0004 a0013c0017	a0001c0001t0001 a0001c0004t0001 a0013c0017t0001 a0001c0001t0001 a0001c0004t0001 a0013c0017t0001	a0001c0001t0001g0043 a0001c0001t0001g0130 a0001c0001t0001g0187 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0130 a0001c0001t0001g0187 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0102 a0013c0017t0001g0157	8	440	0.0182	40	c.676 others(57): Show c.676-1729_676-1728insTATATATATATATATATATATATATATA TATATATATATT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC110_chr4_185440182_185476733	185443342	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0151 a0002c0005t0001g0151	1	428	0.0023	40	c.21 others(51): Show c.2159_*2160insAAAAAAAAAAAAAAAATATATATATATATATATA TATATA	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding		1839		chr4	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03669.hp1 HG02486.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0311 a0001c0001t0002g0204 a0001c0001t0001g0311 a0001c0001t0002g0204	2	354	0.0057	40	c.97- others(57): Show c.97-10734_97-10733insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC12_chr3_46916730_46981745	46951798	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	354	0.0028	40	c.97- others(57): Show c.97-10734_97-10733insATATATATATATATATATATATATATAT TTTTTTTTTTTT	CCDC12	ENSG00000160799.12	transcript	ENST00000683445.1	protein_coding	1/6			chr3	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18968.hp2 NA19000.hp1 NA18945.hp2 NA18968.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0201 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0201	3	380	0.0079	40	c.346 others(57): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT ATATTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03239.hp2 HG03834.hp1 HG00544.hp1 HG03239.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0179 a0001c0001t0002g0037 a0001c0001t0002g0179	3	380	0.0079	40	c.346 others(57): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT ATTTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	380	0.0026	40	c.346 others(57): Show c.346+1972_346+1973insATATATATATATATATATATATATATAT TTTTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC136_chr7_128786968_128827130	128796739	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18948.hp2 NA20129.hp1 HG03017.hp2 NA18948.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0206 a0001c0001t0002g0039 a0001c0001t0002g0206	3	380	0.0079	40	c.346 others(57): Show c.346+1972_346+1973insATATATATATATATATATATATATATTT TTTTTTTTTTTT	CCDC136	ENSG00000128596.17	transcript	ENST00000297788.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC13_chr3_42700756_42778253	42743600	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0016 a0001c0008t0016	a0001c0008t0016g0297 a0001c0008t0016g0297	1	320	0.0031	40	c.826 others(55): Show c.826-544_826-543insGTGTGTGTGTGTATATATATATATATATAT ATATATATAT	CCDC13	ENSG00000244607.7	transcript	ENST00000310232.11	protein_coding	7/15			chr3	TogoVar
CCDC144A_chr17_16685241_16782881	16729991	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0285 a0001c0004t0005g0285	1	318	0.0031	40	c.210 others(59): Show c.2106-1808_2106-1807insTATATATATATATATATATATATATA TATATACACACACA	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158433091	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0024 a0004c0003t0001g0024	1	264	0.0038	40	c.25+ others(57): Show c.25+23323_25+23324insATATATATATATATATATATATATATTT TTTTTTTTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC148_chr2_158166073_158461753	158433261	A A	AATATATA others(33): Show AATATATATATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	264	0.0038	40	c.25+ others(57): Show c.25+23153_25+23154insATATATATATATATATATATATATGTAT ATATATATATAT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC149_chr4_24798514_24918042	24906364	A A	AATTTTAT others(33): Show AATTTTATTTTATTTTTATTTTATTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG01943.hp1 others(12): Show HG00735.hp2 HG01257.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp2 HG02735.hp1 HG03579.hp1 NA18962.hp2 NA19012.hp2 NA19081.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0024 a0001c0001t0040 a0001c0001t0046 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0002c0002t0003	a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0290 others(12): Show a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0290 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0010g0150 a0001c0001t0012g0288 a0001c0001t0021g0287 a0001c0001t0024g0136 a0001c0001t0040g0153 a0001c0001t0046g0148 a0001c0001t0052g0154 a0001c0001t0054g0266 a0001c0001t0056g0152 a0002c0002t0003g0135	15	354	0.0424	40	c.48+ others(55): Show c.48+6452_48+6453insAAAATAAAATAAAATAAATAAAATAAAAAT AAAATAAAAT	CCDC149	ENSG00000181982.20	transcript	ENST00000635206.3	protein_coding	1/12			chr4	TogoVar

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