Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA18969.hp2 HG02027.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0059 a0001c0001t0003g0003 a0001c0001t0003g0059	2	406	0.0049	23	c.-30 others(34): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTT		COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding					3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46763050	T T	TAATATGT others(16): Show TAATATGTAATATATATTATATAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 HG03471.hp2 HG02451.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0282 a0001c0001t0003g0151 a0001c0001t0004g0048 a0001c0001t0001g0282 a0001c0001t0003g0151 a0001c0001t0004g0048	3	300	0.0100	23	c.-49 others(42): Show c.-49-27832_-49-27810dupTTATATAATATATATTACATATT		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2						chr4	TogoVar
COX7B2_chr4_46729827_46914245	46907848	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	300	0.0033	23	c.-10 others(42): Show c.-105+1289_-105+1311dupAAAAAAAAAAAAAAAAAAAAAAA		COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	1/2						chr4	TogoVar
COX8A_chr11_63969620_63981543	63975796	G G	GGTTTATG others(16): Show GGTTTATGGTGATAATGGGGGATC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	336	0.0030	23	c.115 others(38): Show c.115-427_115-426insTTATGGTGATAATGGGGGATCGT		COX8A	ENSG00000176340.4	transcript	ENST00000314133.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr11	TogoVar
CPA3_chr3_148860296_148902203	148892856	T T	TAGTCCCG others(16): Show TAGTCCCGGCTACTTGGGAGGCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(219): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0007 a0001c0010 others(4): Show a0001c0001 a0001c0007 a0001c0010 a0001c0012 a0002c0002 a0006c0006 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0007t0001 a0001c0010t0002 a0001c0012t0001 a0002c0002t0001 a0002c0002t0003 a0006c0006t0002 a0008c0009t0002	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0033 others(121): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0056 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0208 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0004g0002 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0076 a0001c0001t0005g0229 a0001c0007t0001g0220 a0001c0010t0002g0012 a0001c0012t0001g0004 a0002c0002t0001g0028 a0002c0002t0001g0043 a0002c0002t0001g0052 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0230 a0002c0002t0003g0010 a0002c0002t0003g0027 a0002c0002t0003g0053 a0002c0002t0003g0209 a0002c0002t0003g0212 a0002c0002t0003g0216 a0006c0006t0002g0024 a0008c0009t0002g0022	222	400	0.5550	23	c.106 others(42): Show c.1067-3662_1067-3661insTCCCGGCTACTTGGGAGGCTGAG		CPA3	ENSG00000163751.4	transcript	ENST00000296046.4	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr3	TogoVar
CPA4_chr7_130288161_130329180	130308850	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0161 a0001c0001t0026g0161	1	402	0.0025	23	c.793 others(38): Show c.793+468_793+469insTTTTTTTTTTTTTTTTTTTTTTT		CPA4	ENSG00000128510.12	transcript	ENST00000222482.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67716151	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02109.hp1 HG02886.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0005c0004t0001 a0002c0002t0001 a0005c0004t0001	a0002c0002t0001g0010 a0005c0004t0001g0024 a0002c0002t0001g0010 a0005c0004t0001g0024	2	144	0.0139	23	c.116 others(42): Show c.116+29840_116+29862dupTTTTTTTTTTTTTTTTTTTTTTT		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10						chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0072 a0072	a0072c0081 a0072c0081	a0072c0081t0001 a0072c0081t0001	a0072c0081t0001g0067 a0072c0081t0001g0067	1	278	0.0036	23	c.139 others(42): Show c.1395+2463_1395+2464insATATATATATATATATATATATT		CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41						chr19	TogoVar
CPEB3_chr10_92041692_92296078	92095601	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0099 a0001c0002t0007g0099	1	278	0.0036	23	c.157 others(42): Show c.1573-3658_1573-3657insTATATATATATATATATATATAT		CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	7/9						chr10	TogoVar
CPEB3_chr10_92041692_92296078	92127881	A A	AAACACTT others(16): Show AAACACTTCAAGTACAAGACTCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01433.hp2 others(22): Show HG00639.hp1 HG01081.hp1 HG01433.hp2 HG02055.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0004t0011 a0001c0004t0033 a0001c0007t0009	a0001c0001t0002g0262 a0001c0001t0005g0246 a0001c0001t0005g0247 others(22): Show a0001c0001t0002g0262 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0271 a0001c0001t0011g0265 a0001c0001t0011g0272 a0001c0001t0015g0267 a0001c0001t0025g0253 a0001c0001t0036g0275 a0001c0001t0037g0273 a0001c0001t0038g0263 a0001c0004t0011g0252 a0001c0004t0011g0264 a0001c0004t0033g0269 a0001c0007t0009g0040	25	278	0.0899	23	c.145 others(44): Show c.1453+15125_1453+15147dupATGAGTCTTGTACTTGAAGTGTT		CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9						chr10	TogoVar
CPEB4_chr5_173883349_173966980	173964587	G G	GTGGGGTG others(16): Show GTGGGGTGGGGTGAGGGTGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0015 a0001c0001t0020g0015	1	372	0.0027	23	c.84 others(34): Show c.8450_*8451insTGGGGTGGGGTGAGGGTGAGGGT		CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding					2608		chr5	TogoVar
CPED1_chr7_120983711_121302442	121294806	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135	3	140	0.0214	23	c.286 others(40): Show c.2869-618_2869-617insAAAAAAAAAAAAAAAAAAAAAAA		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461182	A A	AAGAAAAA others(16): Show AAGAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	332	0.0030	23	c.308 others(40): Show c.308-3207_308-3206insGAAAAAAAAAAAAGAAAGAAAGA		CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(16): Show AAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG01346.hp1 others(12): Show HG00597.hp2 HG00673.hp1 HG01346.hp1 HG02056.hp1 HG02257.hp1 HG02523.hp2 HG03654.hp2 NA18943.hp2 NA18952.hp1 NA19001.hp1 NA19002.hp1 NA19010.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0091 others(12): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0201 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0054 a0001c0001t0002g0126 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0004g0169	15	332	0.0452	23	c.308 others(40): Show c.308-3203_308-3202insAAAAAAAGAAAGAAAGAAAAAGA		CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165481017	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	332	0.0030	23	c.673 others(40): Show c.673-1225_673-1224insATATATATATATATATATATATA		CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	3/8						chr4	TogoVar
CPLANE1_chr5_37101235_37254376	37131515	A A	ATTTTTTT others(16): Show ATTTTTTTTTAGTAAAAAAAAATT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0017 a0004c0003t0001g0017	1	268	0.0037	23	c.879 others(42): Show c.8793-6129_8793-6107dupAATTTTTTTTTACTAAAAAAAAA		CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	46/52						chr5	TogoVar
CPLX1_chr4_779957_831129	804870	C C	CGGCGGCA others(16): Show CGGCGGCAGCCATTTTGGAACGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00735.hp2 others(7): Show HG00140.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01109.hp1 HG01515.hp1 HG01978.hp2 HG03831.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0214 a0001c0001t0004g0250 a0001c0001t0007g0012 others(6): Show a0001c0001t0001g0214 a0001c0001t0004g0250 a0001c0001t0007g0012 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0320	10	416	0.0240	23	c.32- others(40): Show c.32-12285_32-12263dupTGCGTTCCAAAATGGCTGCCGCC		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	2/3						chr4	TogoVar
CPLX1_chr4_779957_831129	826454	G G	GGGGGGTG others(16): Show GGGGGGTGGACCCGGGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	2	416	0.0048	23	c.-48 others(32): Show c.-489_-488insGCCCCCGCCCCGGGTCCACCCCC		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding					326		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871424	A A	AGAGAGAC others(16): Show AGAGAGACAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	23	c.-37 others(32): Show c.-370_-369insGAGAGACAGAGAGAGAGAGAGAG		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding					153		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	378	0.0027	23	c.-33 others(32): Show c.-338_-337insGAGAGAGAGAGAGAGAGAGAGAG		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding					121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGGG others(16): Show AGAGAGGGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA18948.hp2 HG04184.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0014 a0001c0001t0037g0069 a0001c0001t0001g0014 a0001c0001t0037g0069	2	378	0.0053	23	c.-33 others(32): Show c.-338_-337insGAGAGGGAGAGAGAGAGAGAGAG		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding					121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0013 a0001c0001t0012g0013	1	378	0.0027	23	c.-33 others(32): Show c.-336_-335insGAGAGAGAGAGAGAGAGAGAGAG		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding					119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGGA others(16): Show AGAGAGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00733.hp2 HG00597.hp2 HG00673.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016	3	378	0.0079	23	c.-33 others(32): Show c.-336_-335insGAGAGGAGAGAGAGAGAGAGAGG		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding					119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGGAGA others(16): Show AGAGGAGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	378	0.0027	23	c.-33 others(32): Show c.-336_-335insGAGGAGAGAGAGAGAGAGAGAGG		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding					119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGGGGA others(16): Show AGAGGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	378	0.0027	23	c.-33 others(32): Show c.-336_-335insGAGGGGAGAGAGAGAGAGAGAGG		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding					119		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	340	0.0029	23	c.92 others(34): Show c.9240_*9241insTATATATATATATATATATATAT		CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding					3978		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0177 a0001c0001t0010g0177	1	340	0.0029	23	c.-10 others(38): Show c.-10-587_-10-565dupTTTTTTTTTTTTTTTTTTTTTTT		CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131698233	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	94	0.0106	23	c.433 others(40): Show c.433-1618_433-1617insTTTTTTTTTTTTTTTTTTTTTTT		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	4/15						chr3	TogoVar
CPNE4_chr3_131528569_132040014	131955409	G G	GGTTTTTT others(16): Show GGTTTTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0091 a0001c0005t0015g0091	1	94	0.0106	23	c.-1- others(40): Show c.-1-49966_-1-49965insAAAAAAAAAACAAAAAAAAAAAC		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
CPNE5_chr6_36735775_36844444	36768225	C C	CTTTTTTT others(16): Show CTTTTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	380	0.0026	23	c.738 others(40): Show c.738-2850_738-2849insAAAAAAAAAAAAAAAGAAAAAAA		CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20						chr6	TogoVar
CPNE5_chr6_36735775_36844444	36839819	T T	TGGGGCGC others(16): Show TGGGGCGCTGGCGGCGGGGGTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	380	0.0026	23	c.-44 others(32): Show c.-443_-442insGCCACCCCCGCCGCCAGCGCCCC		CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding					376		chr6	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0155 a0001c0001t0005g0311 a0001c0001t0005g0312 others(1): Show a0001c0001t0004g0155 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313	4	342	0.0117	23	c.723 others(40): Show c.723-5877_723-5876insCACACACACACACACACACACAC		CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19						chr12	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01981.hp2 HG02280.hp1 others(3): Show HG01081.hp1 HG01981.hp2 HG02280.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0002g0029 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0002g0029 a0001c0002t0001g0065 a0001c0002t0001g0086 a0001c0002t0003g0001	6	126	0.0476	23	c.641 others(42): Show c.641+19357_641+19379dupAAAAAAAAAAAAAAAAAAAAAAA		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97147510	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	126	0.0079	23	c.43 others(34): Show c.4327_*4328insAAAAAAAAAAAAAAAAAAAAAAA		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding					4010		chr8	TogoVar
CPS1_chr2_210551599_210684107	210569927	T T	TGGACCTC others(16): Show TGGACCTCTGTCAACGAGGACTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG02647.hp2 others(6): Show HG02257.hp2 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp2	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0009 a0002c0013 a0004c0004 others(1): Show a0002c0009 a0002c0013 a0004c0004 a0009c0030	a0002c0009t0003 a0002c0009t0006 a0002c0009t0007 others(4): Show a0002c0009t0003 a0002c0009t0006 a0002c0009t0007 a0002c0013t0006 a0002c0013t0007 a0004c0004t0002 a0009c0030t0007	a0002c0009t0003g0155 a0002c0009t0006g0071 a0002c0009t0006g0072 others(6): Show a0002c0009t0003g0155 a0002c0009t0006g0071 a0002c0009t0006g0072 a0002c0009t0007g0069 a0002c0013t0006g0070 a0002c0013t0007g0073 a0004c0004t0002g0010 a0004c0004t0002g0011 a0009c0030t0007g0074	9	340	0.0265	23	c.127 others(40): Show c.127-3367_127-3345dupCCTCTGTCAACGAGGACTGAGGA		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr2	TogoVar
CPS1_chr2_210551599_210684107	210644794	G G	GTATGACT others(16): Show GTATGACTGCAACTTGGATATTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG02258.hp1 HG03225.hp1	a0007 a0014 a0007 a0014	a0007c0014 a0014c0031 a0007c0014 a0014c0031	a0007c0014t0007 a0014c0031t0002 a0007c0014t0007 a0014c0031t0002	a0007c0014t0007g0061 a0014c0031t0002g0014 a0007c0014t0007g0061 a0014c0031t0002g0014	2	340	0.0059	23	c.314 others(42): Show c.3141+2130_3141+2131insATGACTGCAACTTGGATATTGTT		CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	25/37					INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp2 NA18997.hp1 NA19009.hp2 others(1): Show HG03704.hp2 NA18997.hp1 NA19009.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0066 a0001c0001t0067 a0001c0001t0035 a0001c0001t0066 a0001c0001t0067	a0001c0001t0035g0016 a0001c0001t0066g0115 a0001c0001t0067g0119 a0001c0001t0035g0016 a0001c0001t0066g0115 a0001c0001t0067g0119	4	388	0.0103	23	c.41 others(34): Show c.4113_*4135dupTTTTTTTTTTTTTTTTTTTTTTT		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16				4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18966.hp2 NA18978.hp1 NA18948.hp2 NA18966.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0125 a0001c0001t0003g0012 a0001c0001t0003g0125	3	364	0.0082	23	c.103 others(40): Show c.103+1490_103+1491insATATATATATATATTTTTTTTTT		CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	364	0.0028	23	c.103 others(40): Show c.103+1490_103+1491insATATATATATATTTTTTTTTTTT		CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	364	0.0028	23	c.103 others(40): Show c.103+1490_103+1491insATATATATATTTTTTTTTTTTTT		CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	364	0.0028	23	c.103 others(40): Show c.103+1490_103+1491insATATATATTTTTTTTTTTTTTTT		CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69236456	T T	TTATATAT others(16): Show TTATATATTAAAATATATATAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG02615.hp1 others(2): Show HG00639.hp1 HG02109.hp2 HG02615.hp1 HG02896.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0065 a0001c0001t0066 others(2): Show a0001c0001t0031 a0001c0001t0065 a0001c0001t0066 a0001c0001t0078 a0001c0001t0079	a0001c0001t0031g0219 a0001c0001t0065g0203 a0001c0001t0066g0181 others(2): Show a0001c0001t0031g0219 a0001c0001t0065g0203 a0001c0001t0066g0181 a0001c0001t0078g0013 a0001c0001t0079g0013	5	392	0.0128	23	c.-31 others(34): Show c.-3191_-3190insTATATATTAAAATATATATAGCA		CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding					3112		chr12	TogoVar
CPSF7_chr11_61397729_61434975	61434591	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	190	0.0053	23	c.-47 others(34): Show c.-4734_-4733insAAAAAAAAAAAAAAAAAAAAAAA		CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding					4617		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838572	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02109.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0002t0003 a0001c0001t0021 a0001c0002t0003	a0001c0001t0021g0160 a0001c0002t0003g0159 a0001c0001t0021g0160 a0001c0002t0003g0159	2	236	0.0085	23	c.-14 others(40): Show c.-14+3202_-14+3203insTTTTTTTTTTTTTTTTTTTTTTT		CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18						chr11	TogoVar
CPT1B_chr22_50563861_50583427	50571519	A A	ACTCTCGA others(16): Show ACTCTCGATGACCGCCTGGCACTG	frameshift_variant frameshift_variant	HIGH	NA19003.hp1 NA19003.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0056 a0010c0023t0001g0056	1	414	0.0024	23	c.157 others(34): Show c.1576-3_1595dupCAGTGCCAGGCGGTCATCGAGAG	p.Tyr others(5): Show p.Tyr534fs	CPT1B	ENSG00000205560.13	transcript	ENST00000312108.12	protein_coding	14/20	1656/2603	1595/2319	532/772			chr22	TogoVar
CPZ_chr4_8587765_8624752	8605326	C C	CCATCTAT others(16): Show CCATCTATCCATCCATCATTTATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp2 HG02895.hp1 others(9): Show HG00741.hp2 HG02145.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03225.hp2 HG03471.hp1 HG03516.hp2 NA19030.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0013 a0001c0042 a0001c0057 others(3): Show a0001c0013 a0001c0042 a0001c0057 a0002c0067 a0004c0029 a0007c0025	a0001c0013t0002 a0001c0042t0002 a0001c0057t0002 others(3): Show a0001c0013t0002 a0001c0042t0002 a0001c0057t0002 a0002c0067t0001 a0004c0029t0002 a0007c0025t0002	a0001c0013t0002g0021 a0001c0013t0002g0203 a0001c0013t0002g0204 others(6): Show a0001c0013t0002g0021 a0001c0013t0002g0203 a0001c0013t0002g0204 a0001c0042t0002g0185 a0001c0057t0002g0070 a0002c0067t0001g0240 a0004c0029t0002g0058 a0007c0025t0002g0225 a0007c0025t0002g0226	12	442	0.0272	23	c.710 others(38): Show c.710-659_710-658insTATCCATCCATCATTTATGCATC		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8605330	C C	CCATCCAT others(16): Show CCATCCATCCATCCATCATTTATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00609.hp1 others(35): Show HG00408.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02080.hp2 HG02109.hp1 HG02165.hp1 HG02451.hp1 HG02615.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp1 NA18522.hp1 NA18612.hp1 NA18947.hp1 NA18950.hp2 NA18959.hp1 NA18963.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp1 NA19055.hp2 NA19072.hp2 NA19081.hp2 NA19087.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0007 a0001c0012 others(7): Show a0001c0001 a0001c0007 a0001c0012 a0001c0058 a0002c0004 a0002c0009 a0002c0065 a0003c0059 a0004c0017 a0012c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0007t0002 a0001c0012t0002 a0001c0058t0002 a0002c0004t0001 a0002c0004t0002 a0002c0009t0002 a0002c0065t0003 a0003c0059t0002 a0004c0017t0002 a0012c0041t0002	a0001c0001t0001g0222 a0001c0001t0002g0024 a0001c0001t0002g0025 others(28): Show a0001c0001t0001g0222 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0008g0068 a0001c0007t0002g0307 a0001c0012t0002g0223 a0001c0058t0002g0069 a0002c0004t0001g0265 a0002c0004t0002g0259 a0002c0009t0002g0062 a0002c0009t0002g0063 a0002c0009t0002g0257 a0002c0065t0003g0266 a0003c0059t0002g0079 a0004c0017t0002g0190 a0004c0017t0002g0219 a0004c0017t0002g0220 a0012c0041t0002g0186	38	442	0.0860	23	c.710 others(38): Show c.710-643_710-642insATTTATGCATCCATCCATCCATC		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CPZ_chr4_8587765_8624752	8609140	T T	TCACTCAC others(16): Show TCACTCACTTCTCATTAACTCAGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	442	0.0023	23	c.122 others(42): Show c.1227+1717_1227+1718insCTCACTTCTCATTAACTCAGCCA		CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRABP1_chr15_78335353_78353225	78345819	G G	GCAGAGAG others(16): Show GCAGAGAGATGCAGTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	460	0.0022	23	c.364 others(40): Show c.364-2107_364-2085dupCAGAGAGATGCAGTCTCTATATA		CRABP1	ENSG00000166426.8	transcript	ENST00000299529.7	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	316	0.0032	23	c.275 others(40): Show c.2750-407_2750-406insAAAAAAAAAAAAAAATATATATA		CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9						chr2	TogoVar

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