JoGo: Joint Open Genome and Omics Platform

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
CDIN1_chr15_36574626_36815244	36703269	TGATAGAT others(23): Show TGATAGATCTATCAGATATATACATATATCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(44): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00741.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01358.hp1 HG01928.hp1 HG01981.hp2 HG02071.hp2 HG02135.hp1 HG02155.hp2 HG02523.hp2 HG02559.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18955.hp1 NA18962.hp2 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA19077.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0004t0001 a0001c0004t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0018 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005	a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0169 others(44): Show a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0196 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0003g0037 a0001c0001t0004g0232 a0001c0001t0010g0182 a0001c0001t0014g0218 a0001c0001t0014g0219 a0001c0001t0025g0089 a0001c0001t0026g0220 a0001c0004t0001g0004 a0001c0004t0001g0121 a0001c0004t0002g0006 a0001c0004t0002g0098 a0001c0004t0002g0099 a0001c0004t0002g0199 a0002c0002t0001g0207 a0002c0002t0001g0213 a0002c0002t0002g0052 a0002c0002t0018g0206 a0002c0003t0001g0152 a0002c0003t0001g0154 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0166 a0002c0003t0001g0167 a0002c0003t0001g0170 a0002c0003t0001g0184 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0237 a0002c0003t0002g0003 a0002c0003t0002g0031 a0002c0003t0002g0048 a0002c0003t0002g0051 a0002c0003t0002g0086 a0002c0003t0003g0060 a0002c0003t0003g0062 a0002c0003t0004g0185 a0002c0003t0005g0236	47	238	0.1975	-30	c.545 others(47): Show c.545-5880_545-5851delGATATATACATATATCAGATAGATCTAT CA	CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK12_chr17_39456486_39539544	39481682	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02055.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0019 a0001c0001t0009 a0001c0002t0019	a0001c0001t0009g0087 a0001c0002t0019g0009 a0001c0001t0009g0087 a0001c0002t0019g0009	2	260	0.0077	-30	c.193 others(49): Show c.1932-8869_1932-8840delCTCTCTCTCTCTCTCTCTCTCTCTTT CTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK17_chr12_96273261_96405439	96277797	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(44): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00639.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03490.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18944.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA19011.hp1 NA19043.hp2 NA19062.hp1 NA19063.hp1 NA19077.hp2 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 others(44): Show a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0002g0305 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0330 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0345	47	346	0.1358	-30	c.24 others(41): Show c.2415_*2444delCATATATATATATATATATATATATATATA	CDK17	ENSG00000059758.8	transcript	ENST00000261211.8	protein_coding		463		chr12	TogoVar
CDKAL1_chr6_20529457_21237404	20797760	CTTTATTT others(23): Show CTTTATTTTATTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp2 HG02109.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0011 a0001c0001t0005 a0001c0002t0011	a0001c0001t0005g0137 a0001c0002t0011g0131 a0001c0001t0005g0137 a0001c0002t0011g0131	2	196	0.0102	-30	c.638 others(49): Show c.638+16534_638+16563delATTTTATTTTATTTTATTTTATTTTA TTTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20810392	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0099 a0001c0004t0001g0099	1	196	0.0051	-30	c.638 others(49): Show c.638+29151_638+29180delACACACACACACACACACACACACAC ACAC	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKN1C_chr11_2878218_2890775	2883222	AGCATTTT others(23): Show AGCATTTTTCGGCCTCTTTATTTAGAACCCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	417	0.0024	-30	c.66 others(39): Show c.669_*698delCGGGTTCTAAATAAAGAGGCCGAAAAATGC	CDKN1C	ENSG00000129757.15	transcript	ENST00000440480.8	protein_coding	4/4	752		chr11	TogoVar
CDKN2A_chr9_21962752_21999392	21980994	ATATATAT others(23): Show ATATATATACGTGTATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	404	0.0025	-30	c.194 others(47): Show c.194-9816_194-9787delCACGTATATATATATATACACGTATATA TA	CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2			chr9	TogoVar
CDKN3_chr14_54392007_54425218	54421310	GCAGAGGT others(23): Show GCAGAGGTTGCAGTCAGCCGAACCCAGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG03490.hp1 NA18612.hp2 others(2): Show HG00544.hp1 HG03490.hp1 NA18612.hp2 NA18967.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0137 a0001c0001t0001g0138	5	420	0.0119	-30	c.12 others(41): Show c.1233_*1262delCAGAGGTTGCAGTCAGCCGAACCCAGGGGA	CDKN3	ENSG00000100526.21	transcript	ENST00000335183.11	protein_coding		1093		chr14	TogoVar
CDYL2_chr16_80592907_80809598	80672535	AAAAGGAA others(23): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0242 a0001c0005t0002g0242	1	258	0.0039	-30	c.616 others(49): Show c.616+11973_616+12002delCCTTTCCTTTCCTTTCCTTTCCTTTC CTTT	CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6			chr16	TogoVar
CEACAM20_chr19_44501159_44534675	44510593	AAAGAAAG others(23): Show AAAGAAAGAAAGAAAGAAAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01167.hp2 others(20): Show HG00323.hp1 HG01069.hp1 HG01167.hp2 HG01168.hp1 HG01256.hp1 HG01346.hp1 HG01975.hp1 HG02129.hp2 HG02165.hp2 HG02818.hp2 HG03130.hp1 HG03486.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18944.hp1 NA19003.hp2 NA19004.hp2 NA19054.hp2 NA19087.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0014 a0031	a0001c0001 a0002c0002 a0003c0012 others(4): Show a0001c0001 a0002c0002 a0003c0012 a0004c0003 a0004c0011 a0014c0020 a0031c0042	a0001c0001t0001 a0002c0002t0001 a0003c0012t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0012t0001 a0004c0003t0001 a0004c0011t0001 a0014c0020t0001 a0031c0042t0001	a0001c0001t0001g0151 a0002c0002t0001g0231 a0002c0002t0001g0236 others(19): Show a0001c0001t0001g0151 a0002c0002t0001g0231 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0248 a0002c0002t0001g0253 a0002c0002t0001g0261 a0002c0002t0001g0333 a0002c0002t0001g0360 a0002c0002t0001g0365 a0002c0002t0001g0367 a0003c0012t0001g0044 a0004c0003t0001g0022 a0004c0003t0001g0348 a0004c0003t0001g0358 a0004c0003t0001g0381 a0004c0003t0001g0395 a0004c0011t0001g0091 a0004c0011t0001g0093 a0014c0020t0001g0083 a0031c0042t0001g0398	23	438	0.0525	-30	c.173 others(47): Show c.1737+407_1737+436delCCTTCCTTCCTTTTTCTTTCTTTCTTTC TT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	11/11			chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37202644	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG02738.hp1 HG01123.hp1 HG01261.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0004 a0001c0001t0025g0004	3	466	0.0064	-30	c.80 others(39): Show c.803_*832delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding	5/5	939	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEBPZ_chr2_37196612_37236596	37202644	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp2 HG02738.hp2 HG01123.hp1 HG01261.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162	3	438	0.0069	-30	c.302 others(47): Show c.3025+110_3025+139delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	15/15			chr2	TogoVar
CELA3A_chr1_21996657_22017542	22012106	CGTATATA others(23): Show CGTATATATATATACACAAACACATACGTAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0119 a0001c0003t0001g0119	1	419	0.0024	-30	c.796 others(45): Show c.796-343_796-314delGTATATATATATACACAAACACATACGTAT	CELA3A	ENSG00000142789.20	transcript	ENST00000290122.8	protein_coding	7/7			chr1	TogoVar
CELA3A_chr1_21996657_22017542	22012146	CAAATACG others(23): Show CAAATACGTATATATATACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(148): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0003 a0002c0006 others(8): Show a0001c0001 a0001c0003 a0002c0006 a0002c0007 a0002c0008 a0003c0010 a0004c0005 a0005c0009 a0006c0015 a0007c0011 a0011c0019	a0001c0001t0001 a0001c0003t0001 a0002c0006t0001 others(9): Show a0001c0001t0001 a0001c0003t0001 a0002c0006t0001 a0002c0006t0002 a0002c0007t0001 a0002c0008t0001 a0003c0010t0001 a0004c0005t0001 a0005c0009t0001 a0006c0015t0001 a0007c0011t0001 a0011c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0019 others(66): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0003t0001g0108 a0001c0003t0001g0118 a0001c0003t0001g0120 a0002c0006t0001g0028 a0002c0006t0001g0040 a0002c0006t0001g0041 a0002c0006t0001g0042 a0002c0006t0001g0066 a0002c0006t0001g0098 a0002c0006t0001g0102 a0002c0006t0001g0128 a0002c0006t0001g0129 a0002c0006t0002g0126 a0002c0007t0001g0045 a0002c0007t0001g0046 a0002c0007t0001g0105 a0002c0007t0001g0106 a0002c0008t0001g0056 a0002c0008t0001g0127 a0003c0010t0001g0061 a0004c0005t0001g0008 a0004c0005t0001g0018 a0004c0005t0001g0024 a0004c0005t0001g0037 a0004c0005t0001g0052 a0004c0005t0001g0067 a0004c0005t0001g0093 a0004c0005t0001g0094 a0004c0005t0001g0125 a0005c0009t0001g0053 a0006c0015t0001g0026 a0007c0011t0001g0018 a0011c0019t0001g0132	151	419	0.3604	-30	c.796 others(45): Show c.796-302_796-273delAATACGTATATATATACACACACACATATA	CELA3A	ENSG00000142789.20	transcript	ENST00000290122.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELF5_chr19_3219661_3302076	3299509	CTCCTCCT others(23): Show CTCCTCCTCTTCTTCTTCTTCTTCTTCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG01516.hp2 others(3): Show HG01106.hp2 HG01175.hp1 HG01516.hp2 HG02148.hp1 HG02602.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0003t0005 a0001c0001t0004 a0001c0003t0004 a0001c0003t0005	a0001c0001t0004g0008 a0001c0003t0004g0131 a0001c0003t0004g0134 others(3): Show a0001c0001t0004g0008 a0001c0003t0004g0131 a0001c0003t0004g0134 a0001c0003t0004g0237 a0001c0003t0004g0261 a0001c0003t0005g0099	6	262	0.0229	-30	c.27 others(41): Show c.2793_*2822delTCCTCCTCTTCTTCTTCTTCTTCTTCTTCT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		2434		chr19	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	254	0.0039	-30	c.-17 others(51): Show c.-175-24562_-175-24533delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPE_chr4_103100811_103203343	103112869	CATATATA others(23): Show CATATATACTTATAAGTATATAAGTGTACAT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03225.hp1 HG01255.hp2 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0281 a0005c0006t0001g0168 a0001c0001t0001g0281 a0005c0006t0001g0168	2	320	0.0063	-30	c.754 others(49): Show c.7540+1556_7540+1585delATGTACACTTATATACTTATAAGTAT ATAT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103112897	CATATATA others(23): Show CATATATACTTATAAGTATATAAGTGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00738.hp2 others(11): Show HG00140.hp1 HG00621.hp2 HG00738.hp2 HG01109.hp2 HG01261.hp1 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02523.hp1 HG03831.hp1 NA18945.hp1 NA18949.hp1 NA19057.hp1 NA19077.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 others(11): Show a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0263 a0005c0006t0001g0152 a0005c0006t0001g0159 a0005c0006t0001g0169 a0005c0006t0001g0171 a0005c0006t0001g0237	14	320	0.0438	-30	c.754 others(49): Show c.7540+1528_7540+1557delATGTACACTTATATACTTATAAGTAT ATAT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp1 HG03130.hp2 others(1): Show HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0193	4	374	0.0107	-30	c.597 others(45): Show c.597+924_597+953delATATATATATATATATATATATATATATAT	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10			chr5	TogoVar
CENPK_chr5_65512766_65568168	65545322	GCGCACAC others(23): Show GCGCACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	374	0.0027	-30	c.242 others(47): Show c.242-2504_242-2475delTGTGTGTGTGTGTGTGTGTGTGTGTGTG CG	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	5/10			chr5	TogoVar
CENPN_chr16_81002214_81036485	81033935	TACCAGCT others(23): Show TACCAGCTGGGTATGCTCCAGTTCAATTCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0062 a0002c0001t0003g0062	1	398	0.0025	-30	c.52 others(41): Show c.5285_*5314delACCAGCTGGGTATGCTCCAGTTCAATTCCA	CENPN	ENSG00000166451.14	transcript	ENST00000305850.10	protein_coding		2451		chr16	TogoVar
CENPT_chr16_67823157_67852693	67842893	ACAGCAGC others(23): Show ACAGCAGCAACAGCAGCAGCAGCAGCAACAG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	266	0.0038	-30	c.-49 others(49): Show c.-492+4478_-492+4507delCTGTTGCTGCTGCTGCTGCTGTTGCT GCTG	CENPT	ENSG00000102901.13	transcript	ENST00000562787.6	protein_coding	1/15			chr16	TogoVar
CENPVL1_chrX_51705512_51717131	51707495	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	238	0.0042	-30	c.-30 others(41): Show c.-3016_-2987delACACACACACACACACACACACACACACAC	CENPVL1	ENSG00000223591.5	transcript	ENST00000602548.2	protein_coding		3016		chrX	TogoVar
CEP112_chr17_65630537_66197133	65937665	GGGCGCCT others(23): Show GGGCGCCTCTGCCCGGCCGCCCCTACTGGGA	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	112	0.0089	-30	c.187 others(50): Show c.1873-10006_1873-9977delTCCCAGTAGGGGCGGCCGGGCAGAG GCGCC	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	18/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01099.hp1 others(5): Show HG00639.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01192.hp2 HG01346.hp2 HG02148.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0249 a0001c0001t0005g0124 a0001c0001t0006g0043 others(5): Show a0001c0001t0002g0249 a0001c0001t0005g0124 a0001c0001t0006g0043 a0001c0001t0006g0114 a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0125 a0001c0001t0006g0127	8	336	0.0238	-30	c.-41 others(41): Show c.-4190_-4161delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(23): Show TTATTTATATATATATTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02818.hp1 others(1): Show HG01891.hp1 HG02572.hp2 HG02818.hp1 HG03942.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0002c0002t0003 a0001c0001t0005 a0001c0001t0006 a0002c0002t0003	a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0006g0155 others(1): Show a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0006g0155 a0002c0002t0003g0077	4	164	0.0244	-30	c.280 others(51): Show c.2807-75882_2807-75853delTATATATATATATAAATATATATA TAAATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656279	TTATATAT others(23): Show TTATATATATATTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02602.hp2 HG02965.hp1 others(2): Show HG01261.hp1 HG02602.hp2 HG02965.hp1 HG04115.hp1 NA20129.hp1	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0004c0004 a0009c0016 a0002c0002 a0004c0004 a0009c0016	a0002c0002t0003 a0002c0002t0004 a0004c0004t0008 others(1): Show a0002c0002t0003 a0002c0002t0004 a0004c0004t0008 a0009c0016t0006	a0002c0002t0003g0090 a0002c0002t0003g0141 a0002c0002t0004g0139 others(2): Show a0002c0002t0003g0090 a0002c0002t0003g0141 a0002c0002t0004g0139 a0004c0004t0008g0071 a0009c0016t0006g0105	5	164	0.0305	-30	c.280 others(51): Show c.2807-75886_2807-75857delTATATATATATATATATAAATATA TATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(23): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	164	0.0061	-30	c.280 others(51): Show c.2806+13989_2806+14018delACACACACACACACACACACACAC ACACCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP170_chr1_243119428_243260281	243226165	ATAGATAT others(23): Show ATAGATATATATATATCTAGATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	303	0.0033	-30	c.-41 others(45): Show c.-41-874_-41-845delGATATATATATCTAGATATATATATATCTA	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP57L1_chr6_109090507_109179418	109136700	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0173 a0001c0001t0006g0173	1	228	0.0044	-30	c.-3- others(45): Show c.-3-8485_-3-8456delTATTTTATTTTATTTTATTTTATTTTATTT	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567233	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0284 a0002c0002t0005g0284	1	302	0.0033	-30	c.233 others(45): Show c.233-947_233-918delTATATATATATATACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567239	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0267 a0002c0002t0005g0267	1	302	0.0033	-30	c.233 others(45): Show c.233-953_233-924delTATATATATATATATATATACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85_chr1_26229200_26283808	26282338	GCCGGGAC others(23): Show GCCGGGACCGGGACCGGGACTGGGGCCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG00642.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0018 a0001c0001t0005g0019	2	342	0.0059	-30	c.50 others(41): Show c.5046_*5075delCCGGGACCGGGACCGGGACTGGGGCCGGGA	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3531		chr1	TogoVar
CEP85_chr1_26229200_26283808	26282362	GCCGGGAC others(23): Show GCCGGGACCGGGACCGGGACTGGGGCCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00733.hp2 others(67): Show HG00323.hp2 HG00544.hp1 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01358.hp2 HG01952.hp1 HG02056.hp2 HG02071.hp2 HG02258.hp2 HG02293.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18952.hp2 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18986.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19067.hp1 NA19077.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0009 a0006c0018 others(1): Show a0001c0001 a0001c0009 a0006c0018 a0008c0015	a0001c0001t0001 a0001c0001t0003 a0001c0009t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0003 a0006c0018t0003 a0008c0015t0003	a0001c0001t0001g0315 a0001c0001t0003g0003 a0001c0001t0003g0092 others(65): Show a0001c0001t0001g0315 a0001c0001t0003g0003 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0009t0003g0108 a0001c0009t0003g0111 a0006c0018t0003g0123 a0008c0015t0003g0163	70	342	0.2047	-30	c.50 others(41): Show c.5070_*5099delCCGGGACCGGGACCGGGACTGGGGCCGGGA	CEP85	ENSG00000130695.16	transcript	ENST00000451429.8	protein_coding		3555		chr1	TogoVar
CERCAM_chr9_128415857_128442347	128437789	ATATATAC others(23): Show ATATATACACGTATATATACATATATACGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03486.hp1 HG03579.hp2 HG02723.hp2 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0175 a0001c0001t0001g0002 a0001c0001t0001g0175	3	400	0.0075	-30	c.94 others(39): Show c.942_*971delTATATACACGTATATATACATATATACGTG	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		443		chr9	TogoVar
CERKL_chr2_181531672_181662105	181538126	CCACATTT others(23): Show CCACATTTCTTTATATTAAAATTCTAGTTTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00621.hp1 NA19003.hp2 HG00609.hp1 HG00621.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0012 a0001c0001t0012 a0001c0002t0012	a0001c0001t0012g0188 a0001c0001t0012g0273 a0001c0002t0012g0123 a0001c0001t0012g0188 a0001c0001t0012g0273 a0001c0002t0012g0123	3	298	0.0101	-30	c.28 others(37): Show c.28_*57delCAAACTAGAATTTTAATATAAAGAAATGTG	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	13/13	28		chr2	TogoVar
CERKL_chr2_181531672_181662105	181641326	TATATATA others(23): Show TATATATATATATATATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp2 HG02083.hp1 others(27): Show HG00438.hp1 HG02056.hp2 HG02083.hp1 HG02486.hp1 HG02976.hp2 HG03453.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18954.hp1 NA18960.hp1 NA18962.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp1 NA19005.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19082.hp1 NA19086.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0021 a0001c0001t0024 a0001c0002t0013 a0002c0003t0004 a0002c0003t0009 a0002c0003t0023 a0002c0003t0027 a0002c0004t0002 a0002c0004t0004	a0001c0001t0001g0169 a0001c0001t0001g0209 a0001c0001t0001g0210 others(27): Show a0001c0001t0001g0169 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0198 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0187 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0010g0184 a0001c0001t0010g0212 a0001c0001t0021g0183 a0001c0001t0024g0193 a0001c0002t0013g0138 a0002c0003t0004g0095 a0002c0003t0004g0096 a0002c0003t0009g0120 a0002c0003t0023g0097 a0002c0003t0027g0114 a0002c0004t0002g0288 a0002c0004t0002g0289 a0002c0004t0004g0186 a0002c0004t0004g0191	30	298	0.1007	-30	c.238 others(49): Show c.238+15413_238+15442delGTATATATATGTATATATATATATAT ATAT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS6_chr2_168451272_168780134	168743204	GTGTGTGT others(23): Show GTGTGTGTGTATGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	176	0.0057	-30	c.846 others(49): Show c.846-22378_846-22349delATGTGTGTGTGTATATATATATGTGT GTGT	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CERT1_chr5_75372775_75516629	75388599	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	336	0.0030	-30	c.128 others(47): Show c.1284+963_1284+992delATATATATATATATATATATATATATAT AT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	12/16			chr5	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(61): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01192.hp2 HG01257.hp1 HG01496.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02523.hp2 HG03490.hp1 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18948.hp2 NA18953.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp2 NA19090.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0034 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0151 a0003c0004t0001g0121	64	372	0.1720	-30	c.74+ others(45): Show c.74+2396_74+2425delATATATATATATATATATATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP20DC_chr3_58737008_59055025	58966468	ATATGTGT others(23): Show ATATGTGTATATATATATATATACACATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01099.hp2 HG01106.hp1 others(2): Show HG00140.hp1 HG01099.hp2 HG01106.hp1 HG03704.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0003g0202 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204	5	204	0.0245	-30	c.279 others(49): Show c.279-28736_279-28707delCATATGTGTATATATATATATATACA CATA	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	4/16			chr3	TogoVar
CFAP251_chr12_121913592_122008919	121998432	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01884.hp2 HG02015.hp2 others(35): Show HG00423.hp1 HG01884.hp2 HG02015.hp2 HG02027.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02698.hp2 HG02723.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18951.hp1 NA18969.hp2 NA18975.hp2 NA18998.hp2 NA19011.hp1 NA19083.hp1 NA19090.hp1 NA20300.hp2 NA21309.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0014	a0003c0012 a0005c0005 a0005c0015 others(2): Show a0003c0012 a0005c0005 a0005c0015 a0006c0006 a0014c0023	a0003c0012t0001 a0005c0005t0001 a0005c0015t0001 others(2): Show a0003c0012t0001 a0005c0005t0001 a0005c0015t0001 a0006c0006t0001 a0014c0023t0001	a0003c0012t0001g0083 a0005c0005t0001g0218 a0005c0005t0001g0219 others(35): Show a0003c0012t0001g0083 a0005c0005t0001g0218 a0005c0005t0001g0219 a0005c0005t0001g0220 a0005c0005t0001g0223 a0005c0005t0001g0224 a0005c0005t0001g0226 a0005c0005t0001g0227 a0005c0005t0001g0228 a0005c0005t0001g0229 a0005c0005t0001g0231 a0005c0005t0001g0232 a0005c0005t0001g0233 a0005c0005t0001g0235 a0005c0005t0001g0236 a0005c0005t0001g0237 a0005c0005t0001g0238 a0005c0005t0001g0239 a0005c0005t0001g0240 a0005c0005t0001g0241 a0005c0005t0001g0242 a0005c0005t0001g0243 a0005c0005t0001g0244 a0005c0005t0001g0245 a0005c0005t0001g0266 a0005c0005t0001g0336 a0005c0005t0001g0346 a0005c0015t0001g0105 a0006c0006t0001g0253 a0006c0006t0001g0254 a0006c0006t0001g0255 a0006c0006t0001g0256 a0006c0006t0001g0257 a0006c0006t0001g0258 a0006c0006t0001g0260 a0006c0006t0001g0263 a0006c0006t0001g0268 a0014c0023t0001g0225	38	354	0.1073	-30	c.300 others(49): Show c.3007-1257_3007-1228delATATATATATATATATATATATATAT ATAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP299_chr4_80330730_80968750	80390922	TATGTATA others(23): Show TATGTATATATGTATATATGTATGTACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	96	0.0104	-30	c.242 others(49): Show c.242+28121_242+28150delGTACACACATGTATATATGTATATAT GTAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80595255	TCCCTCCC others(23): Show TCCCTCCCAAAGATAGCACAGATATATTTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02451.hp1 others(6): Show HG01243.hp1 HG02280.hp1 HG02451.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 others(6): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0002g0027 a0001c0001t0002g0030 a0002c0002t0001g0028	9	96	0.0938	-30	c.333 others(49): Show c.333+12101_333+12130delCCCCCTCCCAAAGATAGCACAGATAT ATTT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132813508	TCCCTGCA others(23): Show TCCCTGCACACACCTGCCCCTGCAGCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02602.hp1 HG02129.hp2 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0175 a0002c0002t0001g0177	2	246	0.0081	-30	c.738 others(47): Show c.7388+614_7389-612delGCGGGGCTGCAGGGGCAGGTGTGTGCAG GG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	54/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132837596	CGCACGGA others(23): Show CGCACGGACACACGCACACGTACACAGACAT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp1 HG03669.hp2 others(1): Show HG03017.hp1 HG03239.hp1 HG03669.hp2 HG03927.hp1	a0009 a0023 a0051 a0009 a0023 a0051	a0009c0021 a0023c0058 a0051c0105 a0009c0021 a0023c0058 a0051c0105	a0009c0021t0001 a0023c0058t0001 a0051c0105t0001 a0009c0021t0001 a0023c0058t0001 a0051c0105t0001	a0009c0021t0001g0243 a0009c0021t0001g0244 a0023c0058t0001g0154 others(1): Show a0009c0021t0001g0243 a0009c0021t0001g0244 a0023c0058t0001g0154 a0051c0105t0001g0239	4	246	0.0163	-30	c.643 others(47): Show c.6439-712_6439-683delATGTCTGTGTACGTGTGCGTGTGTCCGT GC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	44/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132864315	CTGCCTGA others(23): Show CTGCCTGAGACCTGCACACACCTGTCCCCAG	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0002 a0003c0028t0002	a0003c0028t0002g0002 a0003c0028t0002g0002	2	246	0.0081	-30	c.489 others(49): Show c.4890+1680_4890+1709delCTGGGGACAGGTGTGTGCAGGTCTCA GGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	35/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132864386	CTGCACAC others(23): Show CTGCACACACCTGTCCCCAGTGCCTGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0001 a0005c0039t0001	a0005c0039t0001g0165 a0005c0039t0001g0165	1	246	0.0041	-30	c.489 others(49): Show c.4890+1609_4890+1638delTGTCTCAGGCACTGGGGACAGGTGTG TGCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	35/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35924025	ATATATGC others(23): Show ATATATGCACATATATGTGTATATGTACATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp1 others(33): Show HG00408.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG01168.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02257.hp1 HG02273.hp2 HG02630.hp2 HG03130.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03831.hp1 NA18943.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18992.hp1 NA18994.hp1 NA19002.hp1 NA19057.hp1 NA19074.hp2 NA19082.hp1 NA20752.hp1	a0001 a0002 a0008 others(8): Show a0001 a0002 a0008 a0009 a0013 a0018 a0019 a0025 a0026 a0027 a0028	a0001c0071 a0002c0002 a0002c0013 others(12): Show a0001c0071 a0002c0002 a0002c0013 a0002c0067 a0008c0009 a0009c0012 a0009c0026 a0009c0065 a0013c0011 a0018c0022 a0019c0023 a0025c0066 a0026c0069 a0027c0064 a0028c0068	a0001c0071t0001 a0002c0002t0001 a0002c0013t0001 others(12): Show a0001c0071t0001 a0002c0002t0001 a0002c0013t0001 a0002c0067t0001 a0008c0009t0001 a0009c0012t0001 a0009c0026t0001 a0009c0065t0001 a0013c0011t0001 a0018c0022t0001 a0019c0023t0001 a0025c0066t0001 a0026c0069t0001 a0027c0064t0001 a0028c0068t0001	a0001c0071t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 others(33): Show a0001c0071t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0002t0001g0171 a0002c0013t0001g0126 a0002c0013t0001g0127 a0002c0067t0001g0161 a0008c0009t0001g0144 a0008c0009t0001g0148 a0008c0009t0001g0159 a0008c0009t0001g0164 a0008c0009t0001g0165 a0009c0012t0001g0145 a0009c0012t0001g0156 a0009c0026t0001g0128 a0009c0065t0001g0173 a0013c0011t0001g0167 a0013c0011t0001g0169 a0018c0022t0001g0002 a0018c0022t0001g0003 a0019c0023t0001g0146 a0019c0023t0001g0174 a0025c0066t0001g0170 a0026c0069t0001g0147 a0027c0064t0001g0168 a0028c0068t0001g0142	36	216	0.1667	-30	c.250 others(47): Show c.250-1988_250-1959delATGCACATATATGTGTATATGTACATGT AT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35924062	CACATATA others(23): Show CACATATATGTATATATGTACATGTATGCGT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02074.hp1 NA19012.hp1 HG02056.hp1 HG02074.hp1 NA19012.hp1	a0001 a0035 a0001 a0035	a0001c0001 a0035c0038 a0001c0001 a0035c0038	a0001c0001t0001 a0035c0038t0001 a0001c0001t0001 a0035c0038t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0035c0038t0001g0004 a0001c0001t0001g0120 a0001c0001t0001g0121 a0035c0038t0001g0004	3	216	0.0139	-30	c.250 others(47): Show c.250-1910_250-1881delATGTACATGTATGCGTACATATATGTAT AT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar

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