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
CDKAL1_chr6_20529457_21237404	20756826	TCCTTCCT others(21): Show TCCTTCCTTCCTTTCTTCCTTCCTTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	196	0.0051	-28	c.469 others(45): Show c.469-1756_469-1729delTCTTCCTTCCTTCTCCCCTTCCTTCCTT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL2_chr4_75571496_75635528	75595954	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00609.hp2 others(17): Show HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00639.hp1 HG01496.hp1 HG01517.hp1 HG02004.hp1 HG02273.hp1 HG02300.hp1 HG02976.hp2 HG03516.hp1 HG04184.hp2 NA18522.hp1 NA18941.hp1 NA18959.hp2 NA18966.hp1 NA18982.hp1 NA18990.hp1 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0024	a0001c0001t0001g0006 a0001c0001t0001g0158 a0001c0001t0001g0182 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0158 a0001c0001t0001g0182 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0300 a0001c0001t0002g0092 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0021g0254 a0001c0001t0024g0212	20	306	0.0654	-28	c.141 others(45): Show c.1416+265_1416+292delTCCTTCTTTCCTTCCTTCCTTCCTTCCT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13			chr4	TogoVar
CDKL2_chr4_75571496_75635528	75596005	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG01516.hp2 others(6): Show HG01167.hp1 HG01261.hp2 HG01516.hp2 HG02280.hp1 HG03139.hp2 NA18987.hp1 NA19001.hp2 NA19006.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0003g0047 a0001c0001t0004g0015 a0001c0001t0004g0054 others(6): Show a0001c0001t0003g0047 a0001c0001t0004g0015 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0008g0044 a0001c0001t0008g0045	9	306	0.0294	-28	c.141 others(45): Show c.1416+214_1416+241delTCTTCCTTCCTTCCTTCCTTCCTTCCTT	CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13			chr4	TogoVar
CDKL3_chr5_134293424_134372171	134326840	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03098.hp2 NA21309.hp1 HG02280.hp1 HG03098.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076	3	210	0.0143	-28	c.540 others(45): Show c.540-4965_540-4938delGTATATATATATATATATATATATATAT	CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12			chr5	TogoVar
CDKL4_chr2_39170646_39248970	39185376	ATGTATAT others(21): Show ATGTATATATACATGTATATATACATATG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	290	0.0035	-28	c.736 others(43): Show c.736-757_736-730delCATATGTATATATACATGTATATATACA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	7/9			chr2	TogoVar
CDKL4_chr2_39170646_39248970	39220996	TTTTTGTT others(21): Show TTTTTGTTTTTTTTTTTGTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	290	0.0035	-28	c.290 others(45): Show c.290+4815_290+4842delCAAAAACAAAACAAAAAAAAAAACAAAA	CDKL4	ENSG00000205111.10	transcript	ENST00000451199.7	protein_coding	3/9			chr2	TogoVar
CDON_chr11_125951821_126067866	125974382	AAGGAAGG others(21): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(79): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG01993.hp1 HG02027.hp1 HG02056.hp1 HG02080.hp1 HG02258.hp1 HG02273.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp2 NA19077.hp1 NA19081.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0012 a0025 a0031	a0001c0004 a0001c0035 a0001c0065 others(11): Show a0001c0004 a0001c0035 a0001c0065 a0002c0002 a0002c0013 a0002c0028 a0003c0026 a0003c0039 a0005c0040 a0005c0053 a0006c0070 a0012c0060 a0025c0057 a0031c0066	a0001c0004t0003 a0001c0004t0008 a0001c0004t0022 others(39): Show a0001c0004t0003 a0001c0004t0008 a0001c0004t0022 a0001c0004t0031 a0001c0004t0032 a0001c0004t0063 a0001c0004t0086 a0001c0004t0111 a0001c0035t0001 a0001c0035t0005 a0001c0065t0009 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0022 a0002c0002t0030 a0002c0002t0033 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0065 a0002c0002t0066 a0002c0002t0069 a0002c0002t0085 a0002c0002t0087 a0002c0002t0089 a0002c0002t0090 a0002c0002t0091 a0002c0013t0017 a0002c0013t0024 a0002c0013t0074 a0002c0028t0099 a0002c0028t0101 a0003c0026t0003 a0003c0026t0022 a0003c0039t0001 a0005c0040t0002 a0005c0053t0025 a0006c0070t0002 a0012c0060t0017 a0025c0057t0103 a0031c0066t0032	a0001c0004t0003g0048 a0001c0004t0003g0051 a0001c0004t0003g0062 others(77): Show a0001c0004t0003g0048 a0001c0004t0003g0051 a0001c0004t0003g0062 a0001c0004t0003g0067 a0001c0004t0003g0068 a0001c0004t0003g0073 a0001c0004t0003g0169 a0001c0004t0003g0170 a0001c0004t0008g0305 a0001c0004t0008g0306 a0001c0004t0022g0103 a0001c0004t0031g0095 a0001c0004t0031g0100 a0001c0004t0032g0050 a0001c0004t0063g0185 a0001c0004t0086g0302 a0001c0004t0111g0330 a0001c0035t0001g0121 a0001c0035t0005g0090 a0001c0065t0009g0283 a0002c0002t0003g0001 a0002c0002t0003g0003 a0002c0002t0003g0019 a0002c0002t0003g0022 a0002c0002t0003g0024 a0002c0002t0003g0028 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0098 a0002c0002t0003g0101 a0002c0002t0003g0107 a0002c0002t0003g0108 a0002c0002t0003g0184 a0002c0002t0003g0193 a0002c0002t0003g0201 a0002c0002t0003g0208 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0003g0239 a0002c0002t0003g0248 a0002c0002t0008g0252 a0002c0002t0008g0254 a0002c0002t0008g0255 a0002c0002t0008g0266 a0002c0002t0008g0295 a0002c0002t0009g0280 a0002c0002t0009g0282 a0002c0002t0009g0284 a0002c0002t0009g0290 a0002c0002t0009g0293 a0002c0002t0022g0168 a0002c0002t0030g0018 a0002c0002t0030g0023 a0002c0002t0033g0268 a0002c0002t0033g0291 a0002c0002t0060g0224 a0002c0002t0061g0148 a0002c0002t0062g0111 a0002c0002t0065g0246 a0002c0002t0066g0010 a0002c0002t0069g0210 a0002c0002t0085g0259 a0002c0002t0087g0298 a0002c0002t0089g0288 a0002c0002t0090g0261 a0002c0002t0091g0299 a0002c0013t0017g0011 a0002c0013t0024g0217 a0002c0013t0074g0286 a0002c0028t0099g0313 a0002c0028t0101g0311 a0003c0026t0003g0229 a0003c0026t0022g0195 a0003c0039t0001g0084 a0005c0040t0002g0032 a0005c0053t0025g0212 a0006c0070t0002g0153 a0012c0060t0017g0038 a0025c0057t0103g0321 a0031c0066t0032g0026	82	334	0.2455	-28	c.335 others(47): Show c.3356+3894_3356+3921delCCCTCCCTCCCTCCCTCCCTTCCTTC CT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding	18/19			chr11	TogoVar
CDYL_chr6_4771404_4960544	4852515	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTTCCAATCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	250	0.0040	-28	c.25- others(45): Show c.25-39160_25-39133delTTCCTTCCAATCTTCCTTCCTTCCTTCC	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDYL_chr6_4771404_4960544	4900779	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp2 HG01071.hp2 others(32): Show HG00408.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01943.hp1 HG01975.hp1 HG02165.hp1 HG02273.hp2 HG02630.hp1 HG02818.hp1 HG03041.hp2 HG04184.hp2 NA18941.hp2 NA18948.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp2 NA18985.hp1 NA18998.hp1 NA18999.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19064.hp1 NA19077.hp1 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0014 a0001c0002t0002 a0001c0011t0004 a0001c0012t0001	a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0082 others(32): Show a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0062 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0090 a0001c0001t0002g0132 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0085 a0001c0001t0003g0204 a0001c0001t0003g0239 a0001c0001t0010g0232 a0001c0001t0014g0064 a0001c0002t0002g0043 a0001c0011t0004g0238 a0001c0012t0001g0128	35	250	0.1400	-28	c.691 others(45): Show c.691+8424_691+8451delATATATATATATATATATATATATATAT	CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM18_chr19_51473539_51496301	51495337	ATGGATGG others(21): Show ATGGATGGATGGATGGACAGACGGGTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	420	0.0024	-28	c.46 others(39): Show c.4686_*4713delTGGATGGATGGATGGACAGACGGGTGGG	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding		4037		chr19	TogoVar
CEACAM18_chr19_51473539_51496301	51495385	ATGGATGG others(21): Show ATGGATGGATGGATGGGTGGGTGGGTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG00741.hp2 others(48): Show HG00280.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02559.hp1 HG02615.hp1 HG02735.hp2 HG02738.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18944.hp2 NA18950.hp1 NA18955.hp1 NA18956.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp2 NA18984.hp1 NA18985.hp1 NA18994.hp2 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19066.hp2 NA19070.hp1 NA19081.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0006c0007 a0007c0006 a0009c0009 a0012c0012	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(14): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0002c0002t0001 a0003c0003t0003 a0006c0007t0005 a0006c0007t0024 a0007c0006t0006 a0007c0006t0009 a0009c0009t0006 a0009c0009t0010 a0009c0009t0014 a0012c0012t0012 a0012c0012t0021	a0001c0001t0004g0019 a0001c0001t0006g0001 a0001c0001t0006g0005 others(24): Show a0001c0001t0004g0019 a0001c0001t0006g0001 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0020 a0001c0001t0006g0038 a0001c0001t0007g0001 a0001c0001t0008g0005 a0001c0001t0008g0036 a0001c0001t0009g0002 a0001c0001t0012g0089 a0002c0002t0001g0001 a0003c0003t0003g0001 a0006c0007t0005g0046 a0006c0007t0024g0043 a0007c0006t0006g0025 a0007c0006t0009g0025 a0007c0006t0009g0041 a0007c0006t0009g0095 a0009c0009t0006g0006 a0009c0009t0006g0011 a0009c0009t0010g0011 a0009c0009t0014g0011 a0012c0012t0012g0023 a0012c0012t0012g0100 a0012c0012t0021g0039	51	420	0.1214	-28	c.47 others(39): Show c.4734_*4761delTGGATGGATGGATGGGTGGGTGGGTGGG	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding		4085		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44667849	CAATATAT others(21): Show CAATATATATAAATTATATATAATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	390	0.0026	-28	c.-40 others(39): Show c.-4082_-4055delAATATATATAAATTATATATAATATATA	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3632		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518103	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp2 others(57): Show HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01168.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01952.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02523.hp2 HG02602.hp2 HG03017.hp2 HG03486.hp1 HG03831.hp1 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp2 NA18961.hp1 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19065.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0003 a0004 a0009 others(4): Show a0003 a0004 a0009 a0017 a0021 a0031 a0033	a0003c0004 a0004c0003 a0004c0011 others(5): Show a0003c0004 a0004c0003 a0004c0011 a0009c0007 a0017c0023 a0021c0027 a0031c0042 a0033c0037	a0003c0004t0001 a0004c0003t0001 a0004c0011t0001 others(5): Show a0003c0004t0001 a0004c0003t0001 a0004c0011t0001 a0009c0007t0001 a0017c0023t0001 a0021c0027t0001 a0031c0042t0001 a0033c0037t0001	a0003c0004t0001g0026 a0003c0004t0001g0384 a0003c0004t0001g0387 others(45): Show a0003c0004t0001g0026 a0003c0004t0001g0384 a0003c0004t0001g0387 a0003c0004t0001g0401 a0003c0004t0001g0403 a0003c0004t0001g0404 a0004c0003t0001g0022 a0004c0003t0001g0025 a0004c0003t0001g0027 a0004c0003t0001g0214 a0004c0003t0001g0346 a0004c0003t0001g0347 a0004c0003t0001g0348 a0004c0003t0001g0352 a0004c0003t0001g0358 a0004c0003t0001g0361 a0004c0003t0001g0362 a0004c0003t0001g0363 a0004c0003t0001g0364 a0004c0003t0001g0380 a0004c0003t0001g0381 a0004c0003t0001g0382 a0004c0003t0001g0383 a0004c0003t0001g0394 a0004c0003t0001g0395 a0004c0003t0001g0396 a0004c0011t0001g0009 a0004c0011t0001g0088 a0004c0011t0001g0109 a0009c0007t0001g0002 a0009c0007t0001g0003 a0009c0007t0001g0008 a0009c0007t0001g0055 a0009c0007t0001g0056 a0009c0007t0001g0058 a0009c0007t0001g0059 a0009c0007t0001g0060 a0009c0007t0001g0061 a0009c0007t0001g0062 a0009c0007t0001g0066 a0009c0007t0001g0071 a0009c0007t0001g0077 a0009c0007t0001g0078 a0017c0023t0001g0001 a0021c0027t0001g0057 a0021c0027t0001g0079 a0031c0042t0001g0398 a0033c0037t0001g0076	60	438	0.1370	-28	c.103 others(45): Show c.1031-907_1031-880delCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11			chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532541	AAGGAAAG others(21): Show AAGGAAAGAAAGGAAGAAAGAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02056.hp2 HG02559.hp1 others(4): Show HG02027.hp1 HG02056.hp2 HG02559.hp1 HG02615.hp1 HG02738.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(2): Show a0001 a0005 a0008 a0009 a0015	a0001c0001 a0005c0005 a0008c0006 others(2): Show a0001c0001 a0005c0005 a0008c0006 a0009c0007 a0015c0021	a0001c0001t0001 a0005c0005t0002 a0008c0006t0001 others(2): Show a0001c0001t0001 a0005c0005t0002 a0008c0006t0001 a0009c0007t0001 a0015c0021t0001	a0001c0001t0001g0154 a0005c0005t0002g0033 a0005c0005t0002g0036 others(4): Show a0001c0001t0001g0154 a0005c0005t0002g0033 a0005c0005t0002g0036 a0005c0005t0002g0037 a0008c0006t0001g0007 a0009c0007t0001g0065 a0015c0021t0001g0073	7	438	0.0160	-28	c.-30 others(39): Show c.-3060_-3033delCTTTTCTTTCTTTCTTCCTTTCTTTCCT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2867		chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41626063	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG04228.hp2 HG03017.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0161 a0001c0002t0001g0114 a0001c0001t0002g0161 a0001c0002t0001g0114	2	437	0.0046	-28	c.65- others(41): Show c.65-131_65-104delACACACACACACACACACACACACACAC	CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	1/6			chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37194875	CCCTCCCT others(21): Show CCCTCCCTTCCTTCCTTCCTTCTTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	466	0.0022	-28	c.-16 others(39): Show c.-1646_-1619delCCTCCCTTCCTTCCTTCCTTCTTTCCTT	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		1620		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37194879	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCTTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG02630.hp2 others(3): Show HG01167.hp2 HG02109.hp1 HG02630.hp2 HG03516.hp1 NA19055.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0093 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0093 a0001c0001t0094	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0008g0001 a0001c0001t0093g0014 a0001c0001t0094g0006	6	466	0.0129	-28	c.-16 others(39): Show c.-1642_-1615delCCTTCCTTCCTTCCTTCTTTCCTTCCTT	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		1616		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37194897	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00621.hp2 others(70): Show HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA19000.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19072.hp1 NA19080.hp1 NA19090.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0029 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0004g0006 others(15): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0029g0004 a0001c0001t0035g0014 a0001c0001t0036g0005 a0001c0001t0037g0007 a0001c0001t0038g0038 a0001c0001t0039g0005 a0001c0001t0079g0005 a0001c0001t0080g0041 a0001c0001t0082g0005 a0001c0001t0083g0006 a0001c0001t0084g0006 a0001c0001t0085g0007 a0001c0001t0087g0007 a0001c0001t0088g0006	73	466	0.1567	-28	c.-16 others(39): Show c.-1624_-1597delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding		1598		chr2	TogoVar
CELA3A_chr1_21996657_22017542	22012096	CACATACA others(21): Show CACATACATACGTATATATATATACACAA	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	419	0.0024	-28	c.796 others(43): Show c.796-350_796-323delTACATACGTATATATATATACACAAACA	CELA3A	ENSG00000142789.20	transcript	ENST00000290122.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELF1_chr11_47460937_47558132	47481081	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTCTTCTTCTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0061	1	340	0.0029	-28	c.768 others(45): Show c.768+1586_768+1613delAAAAAAAGAAGAAGAAAAAAAAAAAAAA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	9/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47541753	AGAACGAA others(21): Show AGAACGAAAGAAAGAACGAAAGAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG06807.hp1 HG02055.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0002 a0001c0001t0004g0009	2	340	0.0059	-28	c.-15 others(49): Show c.-154+11211_-154+11238delGTTCTTTCTTTCGTTCTTTCTTTC GTTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CELF1_chr11_47460937_47558132	47545850	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTCTGCGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG00735.hp2 others(16): Show HG00558.hp1 HG00673.hp2 HG00735.hp2 HG01175.hp2 HG01192.hp2 HG03942.hp1 NA18747.hp1 NA18952.hp1 NA18983.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19063.hp2 NA19066.hp2 NA19080.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0020 a0001c0001t0028	a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0065 others(16): Show a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0103 a0001c0001t0003g0321 a0001c0001t0009g0138 a0001c0001t0015g0064 a0001c0001t0020g0094 a0001c0001t0028g0035	19	340	0.0559	-28	c.-15 others(47): Show c.-154+7114_-154+7141delACACACACGCAGACACACACACACAC AC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CELSR1_chr22_46356174_46542620	46372390	TACCCATC others(21): Show TACCCATCCACTCACTCACCCCTCCACCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 HG02615.hp2 others(7): Show HG01106.hp1 HG01261.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp1 HG06807.hp2 NA19030.hp1 NA20752.hp2 NA20805.hp2	a0002 a0003 a0019 others(4): Show a0002 a0003 a0019 a0030 a0033 a0048 a0050	a0002c0012 a0002c0016 a0002c0051 others(6): Show a0002c0012 a0002c0016 a0002c0051 a0003c0005 a0019c0041 a0030c0036 a0033c0035 a0048c0064 a0050c0070	a0002c0012t0003 a0002c0016t0003 a0002c0051t0003 others(6): Show a0002c0012t0003 a0002c0016t0003 a0002c0051t0003 a0003c0005t0002 a0019c0041t0010 a0030c0036t0001 a0033c0035t0002 a0048c0064t0001 a0050c0070t0007	a0002c0012t0003g0012 a0002c0016t0003g0025 a0002c0051t0003g0053 others(7): Show a0002c0012t0003g0012 a0002c0016t0003g0025 a0002c0051t0003g0053 a0003c0005t0002g0036 a0003c0005t0002g0065 a0019c0041t0010g0068 a0030c0036t0001g0076 a0033c0035t0002g0066 a0048c0064t0001g0098 a0050c0070t0007g0003	10	104	0.0962	-28	c.775 others(45): Show c.7759+465_7759+492delGGGTGGAGGGGTGAGTGAGTGGATGGGT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	25/34			chr22	TogoVar
CELSR3_chr3_48631463_48667886	48647421	GGGAGGGT others(21): Show GGGAGGGTGGAGGGGAGATGTGGGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	206	0.0049	-28	c.712 others(45): Show c.7129+392_7129+419delACCCTCCCACATCTCCCCTCCACCCTCC	CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	20/34			chr3	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp1 HG01106.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0014 a0001c0008t0003 a0001c0001t0014 a0001c0008t0003	a0001c0001t0014g0214 a0001c0008t0003g0140 a0001c0001t0014g0214 a0001c0008t0003g0140	2	254	0.0079	-28	c.-17 others(49): Show c.-175-24560_-175-24533delTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80900622	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	254	0.0039	-28	c.141 others(47): Show c.1411+4574_1411+4601delGTGTGTGTGTGTGTGTCTGTGTGTGT GT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPE_chr4_103100811_103203343	103112624	GTAAGTAT others(21): Show GTAAGTATATATAAGTGGATATATACTTA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0075 a0004c0005t0001g0075	1	320	0.0031	-28	c.754 others(47): Show c.7541-1641_7541-1614delTAAGTATATATCCACTTATATATACT TA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103112643	TATATACT others(21): Show TATATACTTATAAGTATATATAAGTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02572.hp2 HG02622.hp2 others(7): Show HG01192.hp2 HG02572.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03516.hp2 HG03540.hp1	a0001 a0004 a0022 a0001 a0004 a0022	a0001c0004 a0004c0005 a0022c0031 a0001c0004 a0004c0005 a0022c0031	a0001c0004t0001 a0004c0005t0001 a0022c0031t0001 a0001c0004t0001 a0004c0005t0001 a0022c0031t0001	a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0074 others(6): Show a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0074 a0001c0004t0001g0078 a0004c0005t0001g0006 a0004c0005t0001g0068 a0004c0005t0001g0072 a0004c0005t0001g0077 a0022c0031t0001g0090	10	320	0.0313	-28	c.754 others(47): Show c.7541-1660_7541-1633delGCAGACTTATATATACTTATAAGTAT AT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103112688	ATATATAA others(21): Show ATATATAAGTGTATATATATACTTATAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00735.hp2 others(31): Show HG00140.hp1 HG00621.hp2 HG00735.hp2 HG00738.hp2 HG01109.hp2 HG01261.hp1 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02056.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp1 HG03471.hp1 HG03669.hp2 HG03831.hp1 NA18612.hp2 NA18747.hp1 NA18945.hp1 NA18949.hp1 NA18952.hp2 NA18965.hp1 NA18979.hp2 NA18984.hp1 NA18993.hp2 NA19057.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19091.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0019 a0001 a0005 a0019	a0001c0001 a0005c0006 a0019c0027 a0001c0001 a0005c0006 a0019c0027	a0001c0001t0001 a0005c0006t0001 a0019c0027t0001 a0001c0001t0001 a0005c0006t0001 a0019c0027t0001	a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 others(31): Show a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0005c0006t0001g0152 a0005c0006t0001g0159 a0005c0006t0001g0169 a0005c0006t0001g0171 a0005c0006t0001g0237 a0019c0027t0001g0153	34	320	0.1063	-28	c.754 others(47): Show c.7541-1705_7541-1678delCTTATAAGTATATATATACACTTATA TA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103112841	TATATATA others(21): Show TATATATACTTATAAGTATATAAGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG03209.hp1 others(1): Show HG02280.hp2 HG02559.hp1 HG03209.hp1 HG03516.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0009c0011 a0001c0004 a0009c0011	a0001c0004t0001 a0009c0011t0001 a0001c0004t0001 a0009c0011t0001	a0001c0004t0001g0074 a0001c0004t0001g0079 a0001c0004t0001g0081 others(1): Show a0001c0004t0001g0074 a0001c0004t0001g0079 a0001c0004t0001g0081 a0009c0011t0001g0016	4	320	0.0125	-28	c.754 others(47): Show c.7540+1586_7540+1613delGTACACTTATATACTTATAAGTATAT AT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPE_chr4_103100811_103203343	103112925	CATATATA others(21): Show CATATATACTTATAAGTATATAAGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01192.hp1 others(43): Show HG00735.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01943.hp1 HG01952.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18952.hp2 NA18953.hp1 NA18965.hp1 NA18972.hp2 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19091.hp1 NA19091.hp2	a0001 a0005 a0019 a0001 a0005 a0019	a0001c0001 a0005c0006 a0019c0027 a0001c0001 a0005c0006 a0019c0027	a0001c0001t0001 a0005c0006t0001 a0019c0027t0001 a0001c0001t0001 a0005c0006t0001 a0019c0027t0001	a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0170 others(43): Show a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0005c0006t0001g0168 a0005c0006t0001g0172 a0019c0027t0001g0153	46	320	0.1438	-28	c.754 others(47): Show c.7540+1502_7540+1529delATACACTTATATACTTATAAGTATAT AT	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CENPF_chr1_214598195_214669571	214616835	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00673.hp1 others(22): Show HG00323.hp1 HG00558.hp1 HG00673.hp1 HG01192.hp1 HG01358.hp1 HG01516.hp2 HG01943.hp1 HG01993.hp1 HG02273.hp2 HG03017.hp1 HG03831.hp2 HG04199.hp1 NA18522.hp1 NA18941.hp2 NA18942.hp1 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18994.hp1 NA18998.hp2 NA19010.hp2 NA19012.hp1 NA19079.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0007 a0010 a0017 a0023 a0045	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0009 a0010c0008 a0017c0024 a0023c0023 a0045c0044	a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 others(6): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0002 a0005c0005t0003 a0007c0009t0001 a0010c0008t0001 a0017c0024t0002 a0023c0023t0001 a0045c0044t0003	a0001c0001t0001g0093 a0001c0001t0001g0127 a0001c0001t0001g0134 others(19): Show a0001c0001t0001g0093 a0001c0001t0001g0127 a0001c0001t0001g0134 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0189 a0003c0003t0002g0003 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0073 a0003c0003t0002g0074 a0005c0005t0003g0244 a0005c0005t0003g0250 a0007c0009t0001g0133 a0010c0008t0001g0099 a0010c0008t0001g0100 a0017c0024t0002g0046 a0023c0023t0001g0084 a0045c0044t0003g0239	25	282	0.0887	-28	c.360 others(45): Show c.360-1677_360-1650delTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG01255.hp1 others(6): Show HG00140.hp1 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01978.hp1 HG02630.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0149 a0001c0001t0001g0152 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0196	9	374	0.0241	-28	c.597 others(43): Show c.597+926_597+953delATATATATATATATATATATATATATAT	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10			chr5	TogoVar
CENPK_chr5_65512766_65568168	65545324	GCACACAC others(21): Show GCACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	374	0.0027	-28	c.242 others(45): Show c.242-2504_242-2477delTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	5/10			chr5	TogoVar
CEP112_chr17_65630537_66197133	65660460	CTCCTTCC others(21): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19240.hp1 HG02976.hp1 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0043 a0002c0001t0001g0068 a0002c0001t0001g0043 a0002c0001t0001g0068	2	112	0.0179	-28	c.269 others(49): Show c.2698-19423_2698-19396delAGGAAGGAAGGAAGGAAGGAAGGA AGGA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	24/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03486.hp2 HG06807.hp1 others(1): Show HG02970.hp1 HG03486.hp2 HG06807.hp1 HG06807.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0012 a0006c0008t0030 a0001c0001t0012 a0006c0008t0030	a0001c0001t0012g0310 a0001c0001t0012g0311 a0006c0008t0030g0040 others(1): Show a0001c0001t0012g0310 a0001c0001t0012g0311 a0006c0008t0030g0040 a0006c0008t0030g0041	4	336	0.0119	-28	c.-41 others(39): Show c.-4190_-4163delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP128_chr14_80491479_80946738	80647037	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp1 HG01433.hp2 others(9): Show HG01109.hp1 HG01175.hp1 HG01433.hp2 HG02109.hp1 HG02132.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG04199.hp1 NA18522.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0013	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0004c0013 a0007c0010 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0008t0005 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0003c0003t0002 a0004c0004t0013 a0004c0013t0007 a0007c0010t0001 a0013c0021t0007	a0001c0001t0001g0047 a0001c0001t0002g0112 a0001c0001t0004g0159 others(9): Show a0001c0001t0001g0047 a0001c0001t0002g0112 a0001c0001t0004g0159 a0001c0008t0005g0017 a0002c0002t0003g0143 a0002c0002t0004g0152 a0002c0002t0006g0158 a0003c0003t0002g0164 a0004c0004t0013g0087 a0004c0013t0007g0095 a0007c0010t0001g0057 a0013c0021t0007g0088	12	164	0.0732	-28	c.280 others(49): Show c.2807-66642_2807-66615delTATATATATATATATATATATATA TATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(21): Show TTATTTATATATATATTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0055 a0005c0005t0001g0055	1	164	0.0061	-28	c.280 others(49): Show c.2807-75880_2807-75853delTATATATATATAAATATATATATA AATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656279	TTATATAT others(21): Show TTATATATATATTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG03130.hp2 others(1): Show HG00741.hp1 HG02145.hp1 HG03130.hp2 HG03942.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0004 a0005c0005t0008	a0001c0001t0001g0016 a0002c0002t0003g0062 a0002c0002t0004g0082 others(1): Show a0001c0001t0001g0016 a0002c0002t0003g0062 a0002c0002t0004g0082 a0005c0005t0008g0150	4	164	0.0244	-28	c.280 others(49): Show c.2807-75884_2807-75857delTATATATATATATATAAATATATA TATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(21): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	164	0.0061	-28	c.280 others(49): Show c.2806+13991_2806+14018delACACACACACACACACACACACAC ACCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP170_chr1_243119428_243260281	243225992	TACACGTA others(21): Show TACACGTATATATATCTAGATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03017.hp1 HG03491.hp1 others(1): Show HG02735.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0237 a0001c0001t0001g0280 a0001c0001t0001g0006 a0001c0001t0001g0237 a0001c0001t0001g0280	4	303	0.0132	-28	c.-41 others(43): Show c.-41-699_-41-672delGTATATATATCTAGATATATATACGTGT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	1/19			chr1	TogoVar
CEP295NL_chr17_78885579_78908201	78893116	CACATGTG others(21): Show CACATGTGTGTGCAGGGGTGTGTGTGCGT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03130.hp2 HG02738.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0002g0106 a0001c0001t0001g0178 a0001c0001t0002g0106	2	430	0.0047	-28	c.45- others(41): Show c.45-685_45-658delACGCACACACACCCCTGCACACACATGT	CEP295NL	ENSG00000178404.11	transcript	ENST00000322630.3	protein_coding	2/2			chr17	TogoVar
CEP350_chr1_179949810_180119875	180004873	GGCTTGCT others(21): Show GGCTTGCTTGCTTGCTTGCTTGCTTGCTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0006 a0007c0031t0006	a0007c0031t0006g0017 a0007c0031t0006g0017	1	248	0.0040	-28	c.113 others(47): Show c.1133-1572_1133-1545delGCTTGCTTGCTTGCTTGCTTGCTTGC TT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	7/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP85L_chr6_118455772_118656591	118489956	CACACACA others(21): Show CACACACACATACGTGTGTGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp2 HG03225.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0258 a0002c0002t0002g0259	2	302	0.0066	-28	c.143 others(47): Show c.1437+1702_1437+1729delATATATATACACACACGTATGTGTGT GT	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	6/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567231	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04204.hp2 HG04184.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0235 a0002c0002t0002g0204 a0002c0002t0002g0235	2	302	0.0066	-28	c.233 others(43): Show c.233-943_233-916delTATATATATACACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567233	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp2 HG03486.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0002 a0001c0001t0023 a0002c0002t0002	a0001c0001t0023g0078 a0002c0002t0002g0177 a0001c0001t0023g0078 a0002c0002t0002g0177	2	302	0.0066	-28	c.233 others(43): Show c.233-945_233-918delTATATATATATACACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567235	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp2 HG02145.hp1 others(4): Show HG01123.hp1 HG01891.hp2 HG02145.hp1 HG02293.hp2 HG02622.hp1 NA19062.hp2 NA19240.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0005 a0003c0003t0003 others(1): Show a0002c0002t0002 a0002c0002t0005 a0003c0003t0003 a0003c0003t0016	a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0005g0277 others(4): Show a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0005g0277 a0002c0002t0005g0283 a0002c0002t0005g0285 a0003c0003t0003g0004 a0003c0003t0016g0011	7	302	0.0232	-28	c.233 others(43): Show c.233-947_233-920delTATATATATATATACACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CEP85L_chr6_118455772_118656591	118567237	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG03195.hp2 HG01981.hp1 HG03195.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0231 a0003c0003t0003g0005 a0002c0002t0002g0231 a0003c0003t0003g0005	2	302	0.0066	-28	c.233 others(43): Show c.233-949_233-922delTATATATATATATATACACACACACACA	CEP85L	ENSG00000111860.14	transcript	ENST00000368491.8	protein_coding	2/12			chr6	TogoVar
CER1_chr9_14714724_14727733	14719549	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	460	0.0022	-28	c.51 others(37): Show c.513_*540delAAGGAAGGAAGGAAGGCAGGCAGGCAGG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		174		chr9	TogoVar
CER1_chr9_14714724_14727733	14719553	GCCTGCCT others(21): Show GCCTGCCTGCCTTCCTTCCTTCCTTCCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp2 NA18522.hp2 HG02109.hp1 HG02647.hp2 NA18522.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0014 a0004c0005t0001g0014	3	460	0.0065	-28	c.50 others(37): Show c.509_*536delAAGGAAGGAAGGAAGGAAGGCAGGCAGG	CER1	ENSG00000147869.5	transcript	ENST00000380911.4	protein_coding		170		chr9	TogoVar

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