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	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CASK_chrX_41509934_41928554	41510411	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	164	0.0061	-21	c.99 others(33): Show c.9988_*10008delATATATATATATATATATATA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding					4522		chrX	TogoVar
CASK_chrX_41509934_41928554	41510412	TATATATA others(14): Show TATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0055 a0001c0001t0022g0055	1	164	0.0061	-21	c.99 others(33): Show c.9987_*10007delTATATATATATATATATATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding					4521		chrX	TogoVar
CASK_chrX_41509934_41928554	41517770	TAGCAGCA others(14): Show TAGCAGCAGCAGCAGCAGCAGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG06807.hp1 HG01255.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0014 a0001c0001t0011 a0001c0001t0014	a0001c0001t0011g0045 a0001c0001t0014g0052 a0001c0001t0011g0045 a0001c0001t0014g0052	2	164	0.0122	-21	c.26 others(32): Show c.2629_*2649delGCTGCTGCTGCTGCTGCTGCT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	27/27				2629		chrX	TogoVar
CASK_chrX_41509934_41928554	41637378	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0098 a0001c0001t0004g0098	1	164	0.0061	-21	c.832 others(36): Show c.832-738_832-718delAAAAAAAAAAAAAAAAAAAAA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	8/26						chrX	TogoVar
CAST_chr5_96657376_96779683	96752550	ATAACCTC others(14): Show ATAACCTCAGGGATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02897.hp1 others(4): Show HG01109.hp1 HG02622.hp2 HG02897.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0003 a0004c0008 others(1): Show a0001c0001 a0002c0003 a0004c0008 a0010c0016	a0001c0001t0003 a0002c0003t0001 a0004c0008t0007 others(2): Show a0001c0001t0003 a0002c0003t0001 a0004c0008t0007 a0004c0008t0011 a0010c0016t0011	a0001c0001t0003g0256 a0002c0003t0001g0239 a0004c0008t0007g0061 others(4): Show a0001c0001t0003g0256 a0002c0003t0001g0239 a0004c0008t0007g0061 a0004c0008t0011g0037 a0004c0008t0011g0236 a0004c0008t0011g0238 a0010c0016t0011g0026	7	358	0.0196	-21	c.152 others(40): Show c.1525-1508_1525-1488delAACCTCAGGGATTTTTTTTTT		CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	20/31					INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10681875	AGCCCCAG others(14): Show AGCCCCAGGCTCACCTCCAAAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03130.hp2 HG03453.hp1 others(1): Show HG01243.hp1 HG03130.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0006 a0001c0003t0012 others(1): Show a0001c0003t0004 a0001c0003t0006 a0001c0003t0012 a0001c0003t0032	a0001c0003t0004g0168 a0001c0003t0006g0052 a0001c0003t0012g0194 others(1): Show a0001c0003t0004g0168 a0001c0003t0006g0052 a0001c0003t0012g0194 a0001c0003t0032g0044	4	236	0.0170	-21	c.16+ others(38): Show c.16+11978_16+11998delGTTTGGAGGTGAGCCTGGGGC		CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	4/20						chr1	TogoVar
CASZ1_chr1_10631604_10801646	10716016	CCCCACAG others(14): Show CCCCACAGCACCCAATCCACAA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0214 a0001c0001t0006g0214	1	236	0.0042	-21	c.-76 others(40): Show c.-76-10493_-76-10473delTTGTGGATTGGGTGCTGTGGG		CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20						chr1	TogoVar
CATSPER2_chr15_43623503_43653844	43627841	CACACCTG others(14): Show CACACCTGGCTAATTTTTGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	392	0.0026	-21	c.28 others(32): Show c.2839_*2859delAAGCAAAAATTAGCCAGGTGT		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding					661		chr15	TogoVar
CATSPERB_chr14_91575698_91737086	91707575	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG02896.hp1 others(2): Show HG02630.hp1 HG02818.hp2 HG02896.hp1 NA18522.hp2 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0004 a0001c0002t0001 a0003c0004t0001 others(1): Show a0001c0001t0004 a0001c0002t0001 a0003c0004t0001 a0003c0004t0004	a0001c0001t0004g0004 a0001c0002t0001g0024 a0003c0004t0001g0025 others(2): Show a0001c0001t0004g0004 a0001c0002t0001g0024 a0003c0004t0001g0025 a0003c0004t0004g0001 a0003c0004t0004g0002	5	271	0.0185	-21	c.466 others(36): Show c.466+545_466+565delAAAAAAAAAAAAAAAAAAAAA		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	6/26						chr14	TogoVar
CATSPERD_chr19_5715637_5783734	5715643	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03688.hp2 NA18966.hp2 others(1): Show HG01175.hp1 HG03688.hp2 NA18966.hp2 NA18971.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0057 a0002c0002t0001g0097 a0002c0002t0001g0127 others(1): Show a0002c0002t0001g0057 a0002c0002t0001g0097 a0002c0002t0001g0127 a0003c0004t0001g0095	4	336	0.0119	-21	c.-50 others(32): Show c.-5094_-5074delAAAAAAAAAAAAAAAAAAAAA		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding					4993		chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5751197	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(141): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0007 a0015 a0019 a0021 a0022 a0024 a0026 a0028 a0032	a0001c0001 a0001c0016 a0001c0045 others(16): Show a0001c0001 a0001c0016 a0001c0045 a0002c0002 a0002c0019 a0003c0004 a0003c0005 a0003c0041 a0004c0003 a0004c0044 a0007c0010 a0015c0018 a0019c0022 a0021c0023 a0022c0025 a0024c0035 a0026c0033 a0028c0029 a0032c0024	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0001c0045t0001 a0002c0002t0001 a0002c0002t0003 a0002c0019t0001 a0003c0004t0001 a0003c0004t0003 a0003c0005t0001 a0003c0041t0001 a0004c0003t0001 a0004c0003t0003 a0004c0044t0001 a0007c0010t0001 a0015c0018t0001 a0019c0022t0001 a0021c0023t0001 a0022c0025t0001 a0024c0035t0001 a0026c0033t0001 a0028c0029t0001 a0032c0024t0001	a0001c0001t0001g0038 a0001c0001t0001g0065 a0001c0001t0001g0067 others(141): Show a0001c0001t0001g0038 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0288 a0001c0001t0001g0304 a0001c0001t0002g0147 a0001c0016t0001g0126 a0001c0016t0001g0167 a0001c0045t0001g0151 a0002c0002t0001g0007 a0002c0002t0001g0037 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0068 a0002c0002t0001g0085 a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0103 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0127 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0193 a0002c0002t0001g0215 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0263 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0289 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0298 a0002c0002t0001g0305 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0003g0070 a0002c0002t0003g0072 a0002c0002t0003g0138 a0002c0019t0001g0330 a0003c0004t0001g0040 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0098 a0003c0004t0001g0178 a0003c0004t0001g0192 a0003c0004t0001g0216 a0003c0004t0001g0244 a0003c0004t0001g0246 a0003c0004t0001g0260 a0003c0004t0001g0262 a0003c0004t0001g0281 a0003c0004t0001g0290 a0003c0004t0001g0294 a0003c0004t0001g0324 a0003c0004t0001g0328 a0003c0004t0003g0083 a0003c0005t0001g0185 a0003c0005t0001g0253 a0003c0005t0001g0254 a0003c0005t0001g0269 a0003c0005t0001g0325 a0003c0041t0001g0329 a0004c0003t0001g0042 a0004c0003t0001g0048 a0004c0003t0001g0079 a0004c0003t0001g0080 a0004c0003t0001g0104 a0004c0003t0001g0110 a0004c0003t0001g0132 a0004c0003t0001g0141 a0004c0003t0001g0144 a0004c0003t0001g0169 a0004c0003t0001g0172 a0004c0003t0001g0179 a0004c0003t0001g0183 a0004c0003t0001g0241 a0004c0003t0001g0243 a0004c0003t0001g0248 a0004c0003t0001g0267 a0004c0003t0001g0274 a0004c0003t0001g0275 a0004c0003t0001g0293 a0004c0003t0001g0307 a0004c0003t0001g0313 a0004c0003t0001g0321 a0004c0003t0003g0047 a0004c0003t0003g0053 a0004c0003t0003g0071 a0004c0003t0003g0075 a0004c0003t0003g0131 a0004c0044t0001g0211 a0007c0010t0001g0027 a0015c0018t0001g0308 a0015c0018t0001g0309 a0019c0022t0001g0028 a0021c0023t0001g0052 a0022c0025t0001g0146 a0024c0035t0001g0152 a0026c0033t0001g0301 a0028c0029t0001g0264 a0032c0024t0001g0204	144	336	0.4286	-21	c.988 others(36): Show c.988-425_988-405delAAAAAAAAAAAAAAAAAAAAA		CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	11/21					INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244566667	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG00741.hp1 HG02896.hp2 HG02897.hp2 HG03471.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0002 a0006c0010 a0008c0024 a0001c0002 a0006c0010 a0008c0024	a0001c0002t0001 a0006c0010t0001 a0008c0024t0001 a0001c0002t0001 a0006c0010t0001 a0008c0024t0001	a0001c0002t0001g0088 a0006c0010t0001g0137 a0006c0010t0001g0138 others(1): Show a0001c0002t0001g0088 a0006c0010t0001g0137 a0006c0010t0001g0138 a0008c0024t0001g0081	4	206	0.0194	-21	c.150 others(40): Show c.1507+5523_1507+5543delTTTTTTTTTTTTTTTTTTTTG		CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	10/21						chr1	TogoVar
CATSPERZ_chr11_64295358_64309770	64302887	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTAG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	392	0.0026	-21	c.353 others(36): Show c.353-585_353-565delTTTTTTTTTTAGTTTTTTTTT		CATSPERZ	ENSG00000219435.6	transcript	ENST00000328404.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
CAV1_chr7_116520036_116566179	116533348	TAAATAAA others(14): Show TAAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp2 HG01978.hp1 others(5): Show HG01192.hp2 HG01261.hp2 HG01978.hp1 HG02735.hp1 HG02965.hp1 HG03098.hp1 HG04204.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0118 others(5): Show a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0254 a0001c0001t0002g0309 a0001c0001t0002g0310	8	342	0.0234	-21	c.195 others(38): Show c.195+6662_195+6682delATAAAATAAAATAAAATAAAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116533372	TAAAATAA others(14): Show TAAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 HG02258.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0066 a0001c0001t0006g0112 a0001c0001t0004g0066 a0001c0001t0006g0112	2	342	0.0059	-21	c.195 others(38): Show c.195+6687_195+6707delATAAAATAAAATAAAATAAAA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42413558	CAAAAAGG others(14): Show CAAAAAGGGAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0210 a0001c0001t0020g0210	1	338	0.0030	-21	c.472 others(38): Show c.472-8191_472-8171delTTTTTTTTTTTTTCCCTTTTT		CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1						chr17	TogoVar
CAVIN3_chr11_6313946_6325501	6320315	TGCCAGGC others(14): Show TGCCAGGCCTCCCTGCCTTCGA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00423.hp2 HG01993.hp2 HG00423.hp2 HG01993.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0014 a0005c0011t0001g0014	2	426	0.0047	-21	c.141 others(28): Show c.141_161delTCGAAGGCAGGGAGGCCTGGC	p.Arg others(11): Show p.Arg48_Ala54del	CAVIN3	ENSG00000170955.10	transcript	ENST00000303927.4	protein_coding	1/2	186/1028	141/786	47/261			chr11	TogoVar
CBFA2T3_chr16_88869858_88982207	88904091	TGGCCACC others(14): Show TGGCCACCACCTGCGTGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0284 a0001c0002t0035g0284	1	284	0.0035	-21	c.152 others(38): Show c.152-2456_152-2436delGTGAGCACGCAGGTGGTGGCC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBLB_chr3_105650461_105874012	105783251	ACATGTAG others(14): Show ACATGTAGGTAAGACCCTGATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00558.hp1 others(72): Show HG00099.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01891.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG03471.hp2 HG03831.hp2 HG03834.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0013 a0003c0006 others(1): Show a0001c0001 a0001c0013 a0003c0006 a0004c0010	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0013t0001 a0003c0006t0001 a0004c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0042 others(72): Show a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0011g0048 a0001c0001t0011g0050 a0001c0001t0011g0070 a0001c0001t0011g0086 a0001c0001t0011g0093 a0001c0001t0015g0047 a0001c0001t0015g0059 a0001c0001t0015g0067 a0001c0001t0015g0076 a0001c0001t0018g0057 a0001c0001t0018g0085 a0001c0001t0018g0097 a0001c0001t0028g0108 a0001c0001t0029g0109 a0001c0013t0001g0040 a0001c0013t0001g0041 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0039 a0003c0006t0001g0046 a0003c0006t0001g0087 a0003c0006t0001g0098 a0004c0010t0001g0074 a0004c0010t0001g0075	75	380	0.1974	-21	c.420 others(38): Show c.420-6730_420-6710delCATCAGGGTCTTACCTACATG		CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	3/18						chr3	TogoVar
CBR4_chr4_168982590_169015255	168996734	CTTTATCA others(14): Show CTTTATCAGAAATTAAATAAAA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	284	0.0035	-21	c.535 others(38): Show c.535+5316_535+5336delTTTTATTTAATTTCTGATAAA		CBR4	ENSG00000145439.12	transcript	ENST00000306193.8	protein_coding	4/4						chr4	TogoVar
CBS_chr21_43048191_43080835	43079816	GAGGAGGA others(14): Show GAGGAGGAGGAAGAGGAAGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02559.hp2 others(7): Show HG01884.hp2 HG02258.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02922.hp1 HG02922.hp2 HG03471.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0002c0003t0001 a0001c0001t0003 a0001c0001t0005 a0002c0003t0001	a0001c0001t0003g0030 a0001c0001t0005g0028 a0001c0001t0005g0029 others(4): Show a0001c0001t0003g0030 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0049 a0001c0001t0005g0090 a0001c0001t0005g0169 a0002c0003t0001g0110	10	298	0.0336	-21	c.-41 others(32): Show c.-4152_-4132delTCCCTTCCTCTTCCTCCTCCT		CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding					3982		chr21	TogoVar
CBX1_chr17_48065059_48106478	48077430	GTTGTTTT others(14): Show GTTGTTTTTTTTTTTGTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18973.hp2 NA18965.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0080 a0001c0001t0002g0059 a0001c0001t0002g0080	2	396	0.0051	-21	c.-37 others(36): Show c.-37-410_-37-390delAAAAAACAAAAAAAAAAACAA		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48080944	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	396	0.0025	-21	c.-37 others(38): Show c.-37-3924_-37-3904delATATATATATATATTTTTTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48080946	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	396	0.0025	-21	c.-37 others(38): Show c.-37-3926_-37-3906delATATATATATATATATTTTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48080948	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0045 a0001c0001t0002g0023 a0001c0001t0002g0045	2	396	0.0051	-21	c.-37 others(38): Show c.-37-3928_-37-3908delATATATATATATATATATTTT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBX1_chr17_48065059_48106478	48080950	AAATATAT others(14): Show AAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp2 HG02055.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0043 a0001c0001t0002g0013 a0001c0001t0002g0043	2	396	0.0051	-21	c.-37 others(38): Show c.-37-3930_-37-3910delATATATATATATATATATATT		CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4						chr17	TogoVar
CBY3_chr5_179673560_179686034	179684919	ATTTTGTA others(14): Show ATTTTGTATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	412	0.0024	-21	c.-40 others(32): Show c.-4022_-4002delAAAAAAAAAAAAAATACAAAA		CBY3	ENSG00000204659.5	transcript	ENST00000376974.5	protein_coding					3886		chr5	TogoVar
CCBE1_chr18_59425939_59702423	59601010	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0015 a0003c0004t0001g0015	1	242	0.0041	-21	c.212 others(40): Show c.212+95598_212+95618delAAAAAAAAAAAAAAAAAAAAA		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658343	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0192 a0001c0001t0023g0193 a0001c0001t0023g0192 a0001c0001t0023g0193	2	242	0.0083	-21	c.212 others(40): Show c.212+38265_212+38285delATATATATATTTTTTTTTTTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658351	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	242	0.0041	-21	c.212 others(40): Show c.212+38257_212+38277delATATATATATATATATATTTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658355	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	242	0.0041	-21	c.212 others(40): Show c.212+38253_212+38273delATATATATATATATATATATA		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCDC110_chr4_185440182_185476733	185443921	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0003 a0003c0013t0003	a0003c0013t0003g0188 a0003c0013t0003g0188	1	428	0.0023	-21	c.15 others(32): Show c.1560_*1580delAAAAAAAAAAAAAAAAAAAAA		CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding					1260		chr4	TogoVar
CCDC112_chr5_115262190_115301654	115298253	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG03540.hp1 NA19086.hp2 HG00735.hp2 HG03540.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0062 a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0062	3	388	0.0077	-21	c.-17 others(32): Show c.-1731_-1711delTTTTTTTTTTTTTTTTTTTTT		CCDC112	ENSG00000164221.13	transcript	ENST00000379611.10	protein_coding					1600		chr5	TogoVar
CCDC113_chr16_58244936_58288836	58266395	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03669.hp2 HG01074.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0151 a0001c0001t0015g0269 a0001c0001t0015g0151 a0001c0001t0015g0269	2	378	0.0053	-21	c.784 others(38): Show c.784-1082_784-1062delATATATATATTTTTTTTTTTT		CCDC113	ENSG00000103021.10	transcript	ENST00000219299.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC125_chr5_69275175_69337801	69295803	AACTTCCC others(14): Show AACTTCCCTAAACATTGTCCAT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	341	0.0029	-21	c.817 others(36): Show c.817-924_817-904delATGGACAATGTTTAGGGAAGT		CCDC125	ENSG00000183323.13	transcript	ENST00000396496.7	protein_coding	8/11						chr5	TogoVar
CCDC134_chr22_41795679_41837164	41802379	AGGAGTCT others(14): Show AGGAGTCTCCAGTTGGAGACTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00597.hp2 others(55): Show HG00280.hp1 HG00323.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18962.hp1 NA18969.hp2 NA18975.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp2 NA19000.hp2 NA19074.hp1 NA19087.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 others(8): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0003c0003t0003	a0001c0001t0003g0002 a0001c0001t0003g0032 a0001c0001t0003g0033 others(38): Show a0001c0001t0003g0002 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0012g0014 a0001c0001t0012g0131 a0001c0001t0012g0149 a0001c0001t0012g0150 a0001c0001t0015g0018 a0001c0001t0015g0221 a0001c0001t0015g0222 a0001c0001t0024g0002 a0001c0001t0024g0035 a0001c0001t0024g0036 a0001c0001t0041g0002 a0001c0001t0042g0142 a0001c0001t0043g0038 a0001c0001t0044g0133 a0001c0001t0045g0033 a0001c0001t0046g0002 a0003c0003t0003g0002	58	380	0.1526	-21	c.-17 others(38): Show c.-17+1615_-17+1635delGAGTCTCCAGTTGGAGACTGG		CCDC134	ENSG00000100147.14	transcript	ENST00000255784.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC141_chr2_178824757_179055137	178843188	TGCGGGAA others(14): Show TGCGGGAAAAGTGTATGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0020 a0001c0007t0020	a0001c0007t0020g0078 a0001c0007t0020g0078	1	274	0.0037	-21	c.347 others(40): Show c.3474+2417_3474+2437delTTAGCCATACACTTTTCCCGC		CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	22/23						chr2	TogoVar
CCDC141_chr2_178824757_179055137	178941958	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0035 a0001c0011t0035	a0001c0011t0035g0056 a0001c0011t0035g0056	1	274	0.0037	-21	c.897 others(38): Show c.897+2556_897+2576delTTTTTTTTTTTTTTTTTTTTT		CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	6/23						chr2	TogoVar
CCDC141_chr2_178824757_179055137	179015097	TATATATA others(14): Show TATATATAATATATATATAATC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01069.hp2 others(24): Show HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01243.hp2 HG01358.hp1 HG02040.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp2 HG02523.hp2 HG02738.hp2 HG03017.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 NA18940.hp2 NA18955.hp2 NA18963.hp1 NA19000.hp2 NA19030.hp1 NA19079.hp1 NA20752.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0018	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0003c0004 a0004c0005 a0004c0022 a0005c0008 a0018c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0038 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0002t0029 a0001c0007t0020 a0003c0004t0004 a0004c0005t0022 a0004c0005t0044 a0004c0022t0020 a0005c0008t0006 a0005c0008t0017 a0018c0034t0037	a0001c0001t0001g0147 a0001c0001t0001g0174 a0001c0001t0002g0195 others(23): Show a0001c0001t0001g0147 a0001c0001t0001g0174 a0001c0001t0002g0195 a0001c0001t0005g0077 a0001c0001t0025g0001 a0001c0001t0038g0214 a0001c0002t0001g0151 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0188 a0001c0002t0001g0205 a0001c0002t0005g0149 a0001c0002t0005g0153 a0001c0002t0013g0199 a0001c0002t0013g0220 a0001c0002t0029g0173 a0001c0007t0020g0078 a0003c0004t0004g0161 a0003c0004t0004g0177 a0004c0005t0022g0156 a0004c0005t0044g0189 a0004c0022t0020g0076 a0005c0008t0006g0158 a0005c0008t0006g0175 a0005c0008t0017g0148 a0018c0034t0037g0079	27	274	0.0985	-21	c.225 others(40): Show c.225+32166_225+32186delGATTATATATATATTATATAT		CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23						chr2	TogoVar
CCDC144A_chr17_16685241_16782881	16758931	CCTGTGAA others(14): Show CCTGTGAAGGAAGCACACTGTT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0213 a0002c0002t0002g0213	1	318	0.0031	-21	c.337 others(40): Show c.3373-2488_3373-2468delAAGGAAGCACACTGTTCTGTG		CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158412826	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp1 HG01192.hp1 others(3): Show HG00140.hp1 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG03834.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0010t0005 a0001c0001t0001 a0001c0001t0002 a0001c0010t0005	a0001c0001t0001g0221 a0001c0001t0001g0250 a0001c0001t0001g0252 others(3): Show a0001c0001t0001g0221 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0002g0129 a0001c0001t0002g0251 a0001c0010t0005g0249	6	264	0.0227	-21	c.25+ others(38): Show c.25+43568_25+43588delTAATAATAATAATAATAATAA		CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13						chr2	TogoVar
CCDC153_chr11_119185254_119200841	119186299	GGGGCCGG others(14): Show GGGGCCGGGTGTTTTCTCCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	428	0.0023	-21	c.39 others(32): Show c.3980_*4000delACAGGAGAAAACACCCGGCCC		CCDC153	ENSG00000248712.8	transcript	ENST00000503566.7	protein_coding					3954		chr11	TogoVar
CCDC157_chr22_30352007_30383673	30372150	AGCAGGTG others(14): Show AGCAGGTGCAGCAGTTGGAGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02071.hp2 HG02071.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0003 a0013c0026t0003	a0013c0026t0003g0002 a0013c0026t0003g0002	1	440	0.0023	-21	c.121 others(30): Show c.1211_1231delAGTTGGAGGCGCAGGTGCAGC	p.Gln others(13): Show p.Gln404_Gln410del	CCDC157	ENSG00000187860.11	transcript	ENST00000338306.8	protein_coding	7/12	1502/4478	1211/2259	404/752		INFO_REALIGN_3_PRIME	chr22	TogoVar
CCDC158_chr4_76308039_76426141	76319456	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	348	0.0029	-21	c.327 others(40): Show c.3277+3825_3277+3845delATATATATATATTTTTTTTTT		CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24						chr4	TogoVar
CCDC158_chr4_76308039_76426141	76319458	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02273.hp1 HG02895.hp1 others(3): Show HG01123.hp2 HG02273.hp1 HG02895.hp1 HG03834.hp2 NA18967.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0152 others(3): Show a0001c0001t0001g0045 a0001c0001t0001g0060 a0001c0001t0001g0152 a0001c0001t0001g0215 a0001c0001t0002g0288 a0001c0001t0002g0306	6	348	0.0172	-21	c.327 others(40): Show c.3277+3823_3277+3843delATATATATATATATTTTTTTT		CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24						chr4	TogoVar
CCDC158_chr4_76308039_76426141	76319460	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03130.hp2 HG03669.hp1 others(2): Show HG02074.hp1 HG03130.hp2 HG03669.hp1 NA18944.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0168 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0168 a0001c0001t0001g0196 a0001c0001t0001g0199	5	348	0.0144	-21	c.327 others(40): Show c.3277+3821_3277+3841delATATATATATATATATTTTTT		CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24						chr4	TogoVar
CCDC158_chr4_76308039_76426141	76319462	AAAAATAT others(14): Show AAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18944.hp2 NA18963.hp1 others(3): Show HG03516.hp1 NA18944.hp2 NA18963.hp1 NA18983.hp2 NA19002.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0179 others(3): Show a0001c0001t0001g0161 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0223 a0001c0001t0001g0277	6	348	0.0172	-21	c.327 others(40): Show c.3277+3819_3277+3839delATATATATATATATATATTTT		CCDC158	ENSG00000163749.18	transcript	ENST00000682701.1	protein_coding	24/24						chr4	TogoVar
CCDC168_chr13_102724367_102764072	102729732	GGAAACAA others(14): Show GGAAACAATCCAATCTTTCTGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19059.hp1 NA19059.hp1	a0047 a0047	a0047c0085 a0047c0085	a0047c0085t0001 a0047c0085t0001	a0047c0085t0001g0122 a0047c0085t0001g0122	1	360	0.0028	-21	c.209 others(32): Show c.20944_20964delTCAGAAAGATTGGATTGTTTC	p.Ser others(15): Show p.Ser6982_Phe6988del	CCDC168	ENSG00000175820.4	transcript	ENST00000322527.4	protein_coding	4/4	21104/21470	20944/21246	6982/7081			chr13	TogoVar
CCDC169_chr13_36225775_36302814	36261111	TGTGTAAG others(14): Show TGTGTAAGAGGCATTAAACCAA	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0284 a0002c0002t0002g0284	1	364	0.0028	-21	c.316 others(38): Show c.316-6989_316-6969delTTGGTTTAATGCCTCTTACAC		CCDC169	ENSG00000242715.8	transcript	ENST00000239859.8	protein_coding	4/7						chr13	TogoVar
CCDC171_chr9_15548043_15979037	15743138	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01069.hp2 others(42): Show HG00438.hp1 HG00558.hp2 HG01069.hp2 HG01070.hp2 HG01109.hp2 HG01361.hp1 HG01361.hp2 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02155.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02818.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18945.hp2 NA18964.hp2 NA18971.hp2 NA18972.hp2 NA18983.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19009.hp2 NA19077.hp1 NA19090.hp2 NA19240.hp2 NA20905.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0006 a0010 a0012 a0019 a0020	a0002c0002 a0002c0013 a0003c0003 others(6): Show a0002c0002 a0002c0013 a0003c0003 a0004c0004 a0006c0006 a0010c0011 a0012c0027 a0019c0018 a0020c0017	a0002c0002t0002 a0002c0013t0002 a0003c0003t0006 others(12): Show a0002c0002t0002 a0002c0013t0002 a0003c0003t0006 a0003c0003t0007 a0003c0003t0018 a0004c0004t0001 a0004c0004t0003 a0004c0004t0013 a0006c0006t0003 a0006c0006t0014 a0010c0011t0001 a0010c0011t0003 a0012c0027t0003 a0019c0018t0002 a0020c0017t0001	a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0108 others(42): Show a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0108 a0002c0013t0002g0068 a0003c0003t0006g0252 a0003c0003t0006g0253 a0003c0003t0006g0254 a0003c0003t0006g0258 a0003c0003t0006g0259 a0003c0003t0007g0261 a0003c0003t0018g0260 a0004c0004t0001g0025 a0004c0004t0003g0005 a0004c0004t0003g0006 a0004c0004t0003g0026 a0004c0004t0003g0027 a0004c0004t0003g0030 a0004c0004t0003g0031 a0004c0004t0003g0036 a0004c0004t0003g0038 a0004c0004t0003g0039 a0004c0004t0003g0040 a0004c0004t0003g0041 a0004c0004t0003g0043 a0004c0004t0003g0044 a0004c0004t0003g0045 a0004c0004t0003g0047 a0004c0004t0003g0048 a0004c0004t0003g0051 a0004c0004t0003g0056 a0004c0004t0013g0008 a0004c0004t0013g0042 a0006c0006t0003g0028 a0006c0006t0003g0032 a0006c0006t0003g0033 a0006c0006t0003g0034 a0006c0006t0003g0035 a0006c0006t0003g0054 a0006c0006t0003g0055 a0006c0006t0014g0053 a0010c0011t0001g0057 a0010c0011t0003g0046 a0012c0027t0003g0029 a0019c0018t0002g0092 a0020c0017t0001g0079	45	266	0.1692	-21	c.205 others(40): Show c.2050-1110_2050-1090delTTTTTTTTTTTTTTTTTTTTT		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr9	TogoVar

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