Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRADD_chr12_93672375_93855756	93789683	TCATGGTT others(29): Show TCATGGTTGGATACATGTGTGAAAGCATATCAAATTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02622.hp2 others(1): Show HG01884.hp1 HG02055.hp2 HG02622.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0233 others(1): Show a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0233 a0001c0001t0002g0147	4	246	0.0163	-36	c.299 others(55): Show c.299-60282_299-60247delGTTGGATACATGTGTGAAAGCATATC AAATTGCATG	CRADD	ENSG00000169372.13	transcript	ENST00000332896.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CRB1_chr1_197263252_197483455	197453934	TTAATAAT others(29): Show TTAATAATATATATTATTGATATTATTATATTATTAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02055.hp2 others(17): Show HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02647.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 others(17): Show a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0184	20	180	0.1111	-36	c.400 others(57): Show c.4005+11648_4005+11683delATATATATTATTGATATTATTATA TTATTAATAATA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRCP_chr7_66109847_66159568	66133445	TTGCAGTG others(29): Show TTGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp1 NA18522.hp1 others(10): Show HG01928.hp1 HG01934.hp1 NA18522.hp1 NA18947.hp1 NA18949.hp2 NA18970.hp1 NA18985.hp2 NA18990.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19072.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0248 a0001c0001t0006g0003 a0001c0001t0006g0110 others(8): Show a0001c0001t0001g0248 a0001c0001t0006g0003 a0001c0001t0006g0110 a0001c0001t0006g0113 a0001c0001t0006g0114 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0130	13	378	0.0344	-36	c.145 others(51): Show c.145-796_145-761delCAGTGAGCCGAGATCGTGCCGCTGCACTCC AGCCTG	CRCP	ENSG00000241258.7	transcript	ENST00000395326.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137922402	ATATATAT others(29): Show ATATATATATATATGTATATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp1 HG02615.hp1 others(3): Show HG01099.hp2 HG02258.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0002c0008 a0001c0004 a0002c0006 a0002c0008	a0001c0004t0030 a0002c0006t0043 a0002c0008t0022 others(2): Show a0001c0004t0030 a0002c0006t0043 a0002c0008t0022 a0002c0008t0035 a0002c0008t0041	a0001c0004t0030g0048 a0002c0006t0043g0059 a0002c0008t0022g0034 others(3): Show a0001c0004t0030g0048 a0002c0006t0043g0059 a0002c0008t0022g0034 a0002c0008t0022g0035 a0002c0008t0035g0201 a0002c0008t0041g0077	6	286	0.0210	-36	c.319 others(53): Show c.319+5712_319+5747delCGTATATATATATATATATATACATATA TATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137972732	TATATAGA others(29): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01257.hp2 HG01243.hp2 HG01257.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0005 a0003c0003t0001 a0002c0002t0005 a0003c0003t0001	a0002c0002t0005g0204 a0003c0003t0001g0180 a0002c0002t0005g0204 a0003c0003t0001g0180	2	272	0.0074	-36	c.102 others(55): Show c.102+28836_102+28871delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATAT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CREB5_chr7_28407518_28830894	28642950	TTACACAC others(29): Show TTACACACACACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02809.hp1 NA18522.hp2 HG01081.hp1 HG02809.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0002g0136 a0001c0001t0005g0161 a0001c0001t0009g0181 a0001c0001t0002g0136 a0001c0001t0005g0161 a0001c0001t0009g0181	3	196	0.0153	-36	c.464 others(55): Show c.464+72450_464+72485delTACACACACACACACACACACACACA CACACACACA	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRIP2_chr14_105469821_105485162	105477854	AGGCAGGT others(29): Show AGGCAGGTGTTGGAGCGCGGGCAGGTGTTGGAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02976.hp1 HG03491.hp2 others(2): Show HG00639.hp2 HG02976.hp1 HG03491.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0143 a0001c0003t0001g0022 a0001c0003t0001g0043	5	50	0.1000	-36	c.44- others(49): Show c.44-351_44-316delTGTTGGAGCGCGGGCAGGTGTTGGAGCGCGGG CAGG	CRIP2	ENSG00000182809.11	transcript	ENST00000329146.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CRISPLD2_chr16_84814985_84914508	84868917	CCTGTGCT others(29): Show CCTGTGCTGGGCTGTCCTGCCACTGTAGCCTCTGAGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp1 HG01258.hp1 others(4): Show HG01099.hp2 HG01257.hp1 HG01258.hp1 NA18956.hp1 NA19000.hp2 NA19074.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0010 a0001c0001 a0003c0004 a0004c0010	a0001c0001t0003 a0001c0001t0031 a0001c0001t0059 others(2): Show a0001c0001t0003 a0001c0001t0031 a0001c0001t0059 a0003c0004t0003 a0004c0010t0017	a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0031g0064 others(4): Show a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0031g0064 a0001c0001t0031g0160 a0001c0001t0059g0161 a0003c0004t0003g0145 a0004c0010t0017g0351	7	378	0.0185	-36	c.914 others(49): Show c.914+24_914+59delGCCACTGTAGCCTCTGAGTCTGTGCTGGGCTG TCCT	CRISPLD2	ENSG00000103196.12	transcript	ENST00000262424.10	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRMP1_chr4_5815764_5898086	5819773	GTTCTTGG others(29): Show GTTCTTGGTCTTTCCATCCAAAAATCCTTACCATCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0004 a0003c0018t0004	a0003c0018t0004g0209 a0003c0018t0004g0209	1	312	0.0032	-36	c.19 others(47): Show c.1951_*1986delTGGATGGTAAGGATTTTTGGATGGAAAGACCAAG AA	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding		990		chr4	TogoVar
CRNN_chr1_152404243_152419263	152418257	GCATACAC others(29): Show GCATACACACACTCGCGCGCACGCGCGCGCGCACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02970.hp1 HG03098.hp2 others(1): Show HG02280.hp1 HG02970.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	226	0.0177	-36	c.-40 others(47): Show c.-4093_-4058delTGTGTGCGCGCGCGCGTGCGCGCGAGTGTGTGTA TG	CRNN	ENSG00000143536.7	transcript	ENST00000271835.3	protein_coding		3995		chr1	TogoVar
CROCC2_chr2_240901336_240998311	240985541	ACACACAC others(29): Show ACACACACACACCCAGGCACTCACTGCACACACCCAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01192.hp2 HG01981.hp1 others(17): Show HG00558.hp2 HG01192.hp2 HG01981.hp1 HG02004.hp2 HG02735.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18951.hp2 NA18953.hp2 NA18960.hp2 NA18962.hp2 NA18971.hp2 NA18984.hp1 NA19056.hp1 NA19065.hp1 NA19080.hp2 NA19082.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0011 a0031	a0001c0001 a0001c0022 a0005c0005 others(3): Show a0001c0001 a0001c0022 a0005c0005 a0006c0006 a0011c0080 a0031c0093	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0005c0005t0001 a0006c0006t0001 a0011c0080t0001 a0031c0093t0001	a0001c0001t0001g0077 a0001c0001t0001g0108 a0001c0001t0001g0122 others(17): Show a0001c0001t0001g0077 a0001c0001t0001g0108 a0001c0001t0001g0122 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0321 a0001c0022t0002g0318 a0005c0005t0001g0037 a0005c0005t0001g0093 a0005c0005t0001g0157 a0006c0006t0001g0033 a0006c0006t0001g0073 a0006c0006t0001g0095 a0006c0006t0001g0107 a0011c0080t0001g0161 a0031c0093t0001g0072	20	345	0.0580	-36	c.455 others(55): Show c.4551+2522_4551+2557delACCCAGGCACTCACTGCACACACCCA GCACACACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBA4_chr22_26616963_26635669	26627500	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	393	0.0025	-36	c.301 others(51): Show c.301-771_301-736delTTTCTTTCTCTTTCTTTCCTTTTCTTTCTT TCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106433723	ATATATAT others(29): Show ATATATATATATACATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA19091.hp2 HG02129.hp2 NA19091.hp2	a0003 a0006 a0003 a0006	a0003c0002 a0006c0005 a0003c0002 a0006c0005	a0003c0002t0005 a0006c0005t0004 a0003c0002t0005 a0006c0005t0004	a0003c0002t0005g0012 a0006c0005t0004g0036 a0003c0002t0005g0012 a0006c0005t0004g0036	2	270	0.0074	-36	c.174 others(55): Show c.174-17958_174-17923delCATATATATGTATATATATATGTGTA TATATATATA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF2RA_chrX_1263814_1314935	1283119	CTTCGTTC others(29): Show CTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01978.hp2 HG02148.hp2 others(2): Show HG01928.hp1 HG01978.hp2 HG02148.hp2 HG04184.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0008	a0001c0001t0001g0122 a0001c0001t0002g0101 a0001c0001t0003g0015 others(2): Show a0001c0001t0001g0122 a0001c0001t0002g0101 a0001c0001t0003g0015 a0001c0001t0003g0060 a0001c0002t0008g0082	5	152	0.0329	-36	c.76+ others(49): Show c.76+344_76+379delGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC GTTC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1283131	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01175.hp1 others(26): Show HG00140.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG03239.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19063.hp1 NA19080.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0016t0003 a0002c0011t0004	a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 others(26): Show a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0116 a0001c0001t0002g0118 a0001c0001t0003g0002 a0001c0001t0003g0061 a0001c0001t0003g0098 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0134 a0001c0001t0003g0152 a0001c0001t0004g0035 a0001c0001t0004g0042 a0001c0001t0004g0073 a0001c0001t0004g0115 a0001c0001t0008g0121 a0001c0002t0001g0104 a0001c0002t0004g0043 a0001c0002t0004g0083 a0001c0002t0004g0099 a0001c0002t0004g0111 a0001c0002t0005g0135 a0001c0002t0005g0136 a0001c0016t0003g0108 a0002c0011t0004g0074	29	157	0.1847	-36	c.76+ others(49): Show c.76+376_76+411delGTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTC CTTC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314288	ATCTGCCC others(29): Show ATCTGCCCAACCACTCTGTGCCTGCCCAACCACACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0092 a0001c0005t0010g0092	1	138	0.0072	-36	c.48 others(47): Show c.4810_*4845delTCTGCCCAACCACTCTGTGCCTGCCCAACCACAC TG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4354		chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666781	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03688.hp1 HG01934.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0004 a0002c0004t0013 a0001c0002t0004 a0002c0004t0013	a0001c0002t0004g0038 a0002c0004t0013g0219 a0001c0002t0004g0038 a0002c0004t0013g0219	2	225	0.0089	-36	c.-39 others(57): Show c.-391-64952_-391-64917delCTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666785	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0003 a0001c0002t0009g0003	1	234	0.0043	-36	c.-39 others(57): Show c.-391-64956_-391-64921delCTCTCTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666793	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA20752.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0012 a0001c0002 a0002c0012	a0001c0002t0002 a0002c0012t0042 a0001c0002t0002 a0002c0012t0042	a0001c0002t0002g0164 a0002c0012t0042g0091 a0001c0002t0002g0164 a0002c0012t0042g0091	2	193	0.0104	-36	c.-39 others(57): Show c.-391-64964_-391-64929delCTCTCTCTCTCTCTCTCTCTTTCT TTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666992	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	227	0.0044	-36	c.-39 others(57): Show c.-391-65163_-391-65128delCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH2_chr17_63867016_63878677	63875552	TTTTCTTT others(29): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(50): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG01069.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02055.hp2 HG02145.hp2 HG02148.hp2 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02683.hp2 HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp1 NA18950.hp1 NA18952.hp2 NA18971.hp1 NA18987.hp1 NA19005.hp2 NA19054.hp1 NA19056.hp1 NA19077.hp2 NA19086.hp1 NA19087.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	53	269	0.1970	-36	c.-19 others(47): Show c.-1974_-1939delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding		1876		chr17	TogoVar
CSH2_chr17_63867016_63878677	63875577	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(155): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0002c0012 others(3): Show a0001c0001 a0002c0002 a0002c0012 a0003c0004 a0005c0009 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0012t0002 a0003c0004t0002 a0005c0009t0002 a0007c0008t0002	a0001c0001t0001g0021 a0001c0001t0002g0002 a0001c0001t0002g0006 others(10): Show a0001c0001t0001g0021 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0002c0002t0002g0003 a0002c0012t0002g0030 a0003c0004t0002g0008 a0003c0004t0002g0022 a0005c0009t0002g0026 a0007c0008t0002g0025	158	410	0.3854	-36	c.-19 others(47): Show c.-1999_-1964delGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding		1901		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3083630	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19240.hp1 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0068 a0001c0085 a0001c0068 a0001c0085	a0001c0068t0015 a0001c0085t0020 a0001c0068t0015 a0001c0085t0020	a0001c0068t0015g0049 a0001c0085t0020g0060 a0001c0068t0015g0049 a0001c0085t0020g0060	2	115	0.0174	-36	c.747 others(55): Show c.7474+3431_7474+3466delAAAAAAAAAAAAAAAAAATATATATA TATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3262196	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0026 a0026	a0026c0100 a0026c0100	a0026c0100t0016 a0026c0100t0016	a0026c0100t0016g0121 a0026c0100t0016g0121	1	121	0.0083	-36	c.415 others(57): Show c.4153+21912_4153+21947delGTATATATATATATATATATATAT ATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3660480	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01071.hp2 HG01243.hp1 others(13): Show HG00423.hp1 HG01071.hp2 HG01243.hp1 HG02074.hp2 HG02129.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18971.hp1 NA18984.hp1 NA18995.hp1 NA19074.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0008 a0010 a0020 a0021 a0035	a0001c0047 a0001c0059 a0001c0068 others(13): Show a0001c0047 a0001c0059 a0001c0068 a0001c0103 a0001c0109 a0002c0072 a0002c0076 a0002c0077 a0002c0091 a0004c0058 a0005c0064 a0008c0029 a0010c0096 a0020c0112 a0021c0038 a0035c0023	a0001c0047t0012 a0001c0059t0001 a0001c0068t0015 others(13): Show a0001c0047t0012 a0001c0059t0001 a0001c0068t0015 a0001c0103t0033 a0001c0109t0037 a0002c0072t0003 a0002c0076t0039 a0002c0077t0001 a0002c0091t0002 a0004c0058t0056 a0005c0064t0050 a0008c0029t0013 a0010c0096t0065 a0020c0112t0081 a0021c0038t0075 a0035c0023t0001	a0001c0047t0012g0024 a0001c0059t0001g0036 a0001c0068t0015g0049 others(13): Show a0001c0047t0012g0024 a0001c0059t0001g0036 a0001c0068t0015g0049 a0001c0103t0033g0028 a0001c0109t0037g0013 a0002c0072t0003g0066 a0002c0076t0039g0014 a0002c0077t0001g0016 a0002c0091t0002g0114 a0004c0058t0056g0117 a0005c0064t0050g0078 a0008c0029t0013g0054 a0010c0096t0065g0116 a0020c0112t0081g0090 a0021c0038t0075g0067 a0035c0023t0001g0052	16	45	0.3556	-36	c.101 others(57): Show c.1010-43719_1010-43684delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772472	TATATATA others(29): Show TATATATACATATATACACATATATACATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02723.hp1 others(5): Show HG02572.hp2 HG02647.hp2 HG02723.hp1 HG03225.hp1 HG03516.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0021 a0038	a0001c0017 a0001c0050 a0001c0085 others(5): Show a0001c0017 a0001c0050 a0001c0085 a0002c0084 a0004c0014 a0008c0029 a0021c0038 a0038c0104	a0001c0017t0005 a0001c0050t0052 a0001c0085t0020 others(5): Show a0001c0017t0005 a0001c0050t0052 a0001c0085t0020 a0002c0084t0017 a0004c0014t0055 a0008c0029t0013 a0021c0038t0075 a0038c0104t0069	a0001c0017t0005g0003 a0001c0050t0052g0120 a0001c0085t0020g0060 others(5): Show a0001c0017t0005g0003 a0001c0050t0052g0120 a0001c0085t0020g0060 a0002c0084t0017g0087 a0004c0014t0055g0056 a0008c0029t0013g0054 a0021c0038t0075g0067 a0038c0104t0069g0058	8	103	0.0777	-36	c.819 others(55): Show c.819-18466_819-18431delGTGTATATATGTATATATGTGTATAT ATGTATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920902	AAAAGAAA others(29): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01074.hp2 others(5): Show HG00099.hp1 HG00735.hp1 HG01074.hp2 HG02280.hp1 HG02572.hp1 HG03017.hp2 HG03516.hp1 HG06807.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0009 a0011 a0018 a0026	a0002c0035 a0002c0053 a0003c0056 others(5): Show a0002c0035 a0002c0053 a0003c0056 a0004c0014 a0009c0097 a0011c0016 a0018c0042 a0026c0100	a0002c0035t0047 a0002c0053t0022 a0003c0056t0062 others(5): Show a0002c0035t0047 a0002c0053t0022 a0003c0056t0062 a0004c0014t0055 a0009c0097t0017 a0011c0016t0048 a0018c0042t0004 a0026c0100t0016	a0002c0035t0047g0076 a0002c0053t0022g0041 a0003c0056t0062g0072 others(5): Show a0002c0035t0047g0076 a0002c0053t0022g0041 a0003c0056t0062g0072 a0004c0014t0055g0056 a0009c0097t0017g0089 a0011c0016t0048g0106 a0018c0042t0004g0004 a0026c0100t0016g0121	8	117	0.0684	-36	c.85+ others(53): Show c.85+73394_85+73429delCTTTCTCTCTTTCTTTTCTTTTCTTTTC TTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33989013	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03017.hp1 NA18906.hp1 others(2): Show HG01109.hp2 HG03017.hp1 NA18906.hp1 NA18998.hp1 NA20805.hp2	a0001 a0005 a0028 a0001 a0005 a0028	a0001c0001 a0001c0040 a0005c0020 others(1): Show a0001c0001 a0001c0040 a0005c0020 a0028c0056	a0001c0001t0001 a0001c0001t0005 a0001c0040t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0040t0001 a0005c0020t0006 a0028c0056t0001	a0001c0001t0001g0033 a0001c0001t0005g0050 a0001c0040t0001g0010 others(2): Show a0001c0001t0001g0033 a0001c0001t0005g0050 a0001c0040t0001g0010 a0005c0020t0006g0046 a0028c0056t0001g0047	5	10	0.5000	-36	c.517 others(55): Show c.517+43545_517+43580delATATATATATATATATATATATATAT ATATATATAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	8	0.1250	-36	c.710 others(55): Show c.710-13459_710-13424delATATATATATATATATATATATATAT ATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542604	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01169.hp1 HG01255.hp2 others(7): Show HG01099.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG02602.hp2 HG02896.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0040 a0001c0001t0003 a0001c0001t0004 a0001c0001t0040	a0001c0001t0003g0222 a0001c0001t0004g0006 a0001c0001t0004g0244 others(7): Show a0001c0001t0003g0222 a0001c0001t0004g0006 a0001c0001t0004g0244 a0001c0001t0004g0247 a0001c0001t0004g0253 a0001c0001t0004g0304 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0040g0246	10	385	0.0260	-36	c.230 others(53): Show c.230+7435_230+7470delCATATATATATATATATATATATATATA TATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542636	ATATGTAT others(29): Show ATATGTATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG04228.hp2 HG03490.hp2 HG03492.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0300 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0300	3	361	0.0083	-36	c.230 others(53): Show c.230+7403_230+7438delCATATATATATATATATATATATATATA TATACATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542658	ATATATAT others(29): Show ATATATATATATATGTATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	1	376	0.0027	-36	c.230 others(53): Show c.230+7381_230+7416delAATATATATATATATATATATACATATA TATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446026	TTTCTTTT others(29): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02129.hp1 NA19000.hp1 HG00609.hp2 HG02129.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297	3	289	0.0104	-36	c.-27 others(57): Show c.-270-19059_-270-19024delCTTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSRP3_chr11_19177030_19206983	19197356	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0148 a0001c0001t0001g0149	2	359	0.0056	-36	c.-29 others(53): Show c.-29+4562_-29+4597delAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197364	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03139.hp1 HG04204.hp2 others(1): Show HG01978.hp2 HG03139.hp1 HG04204.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0001g0146 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0076 a0001c0001t0001g0146 a0001c0001t0001g0188	4	197	0.0203	-36	c.-29 others(53): Show c.-29+4554_-29+4589delAAGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CST9L_chr20_23559732_23573484	23560932	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	388	0.0026	-36	c.39 others(47): Show c.3980_*4015delGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3799		chr20	TogoVar
CST9L_chr20_23559732_23573484	23560936	TTTCTTTC others(29): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	388	0.0026	-36	c.39 others(47): Show c.3976_*4011delGGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAG AA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3795		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561004	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	390	0.0026	-36	c.39 others(47): Show c.3908_*3943delAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGG AA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3727		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561012	CTTCCTTC others(29): Show CTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0033 a0004c0006t0001g0033	1	376	0.0027	-36	c.39 others(47): Show c.3900_*3935delAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGG AA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3719		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561040	TTTCCTTC others(29): Show TTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	385	0.0026	-36	c.38 others(47): Show c.3872_*3907delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3691		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561060	CTTCTTTC others(29): Show CTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	381	0.0026	-36	c.38 others(47): Show c.3852_*3887delAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAG AA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3671		chr20	TogoVar
CSTF3_chr11_33079584_33166480	33163876	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	329	0.0030	-36	c.-25 others(47): Show c.-2587_-2552delATATATATATATATATATATATATATATATATAT AT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2397		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163893	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	358	0.0028	-36	c.-26 others(47): Show c.-2604_-2569delAAAATATATATATATATATATATATATATATATA TA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2414		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163903	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	332	0.0030	-36	c.-26 others(47): Show c.-2614_-2579delAAAAAAAAAAAAAATATATATATATATATATATA TA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2424		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163905	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	347	0.0029	-36	c.-26 others(47): Show c.-2616_-2581delAAAAAAAAAAAAAAAATATATATATATATATATA TA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2426		chr11	TogoVar
CTDP1_chr18_79674803_79759503	79692033	GGGGAGGA others(29): Show GGGGAGGAGTGGACGGCTCCCAGGGTGGACTCGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0017 a0001c0014t0001g0017	1	376	0.0027	-36	c.315 others(53): Show c.315-3188_315-3153delAGGAGTGGACGGCTCCCAGGGTGGACTC GGGGTGGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79726848	ATTGCTGG others(29): Show ATTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCCG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0265	1	363	0.0028	-36	c.241 others(55): Show c.2418-2047_2418-2012delCTGCTGTGGGGGTGGGGTGACGCCGT TGCTGGTGGA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48610374	AGCCCACC others(29): Show AGCCCACCTGGATGCCCACCTGGATGCCCACCTGGAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01109.hp2 others(26): Show HG00639.hp2 HG00642.hp2 HG01109.hp2 HG02055.hp2 HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03654.hp1 HG06807.hp2 NA18945.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0012 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0047 a0001c0001t0052 a0001c0002t0025 a0001c0002t0041 a0001c0002t0048 a0001c0005t0001 a0002c0012t0003 a0003c0008t0006	a0001c0001t0001g0066 a0001c0001t0002g0118 a0001c0001t0003g0068 others(26): Show a0001c0001t0001g0066 a0001c0001t0002g0118 a0001c0001t0003g0068 a0001c0001t0004g0008 a0001c0001t0004g0055 a0001c0001t0004g0084 a0001c0001t0005g0006 a0001c0001t0006g0001 a0001c0001t0006g0063 a0001c0001t0007g0040 a0001c0001t0008g0139 a0001c0001t0018g0019 a0001c0001t0019g0132 a0001c0001t0020g0057 a0001c0001t0021g0047 a0001c0001t0023g0051 a0001c0001t0026g0061 a0001c0001t0035g0058 a0001c0001t0036g0069 a0001c0001t0039g0043 a0001c0001t0040g0073 a0001c0001t0047g0117 a0001c0001t0052g0062 a0001c0002t0025g0130 a0001c0002t0041g0050 a0001c0002t0048g0072 a0001c0005t0001g0079 a0002c0012t0003g0123 a0003c0008t0006g0045	29	76	0.3816	-36	c.-28 others(53): Show c.-28-9135_-28-9100delACCTGGATGCCCACCTGGATGCCCACCT GGATGCCC	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48730278	CCTGGGGT others(29): Show CCTGGGGTGTGAGGGGCCCCTGAGGTGTGAGGGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0020 a0001c0001t0006 a0001c0001t0020	a0001c0001t0006g0063 a0001c0001t0020g0057 a0001c0001t0006g0063 a0001c0001t0020g0057	2	142	0.0141	-36	c.584 others(55): Show c.584+18587_584+18622delGGGTGTGAGGGGCCCCTGAGGTGTGA GGGGCTTCTG	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48730300	AGGTGTGA others(29): Show AGGTGTGAGGGGCTTCTGCGGTGTGAGGGGCCCCTGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02965.hp1 others(1): Show HG02647.hp1 HG02723.hp1 HG02965.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0043 a0001c0001t0004 a0001c0001t0037 a0001c0001t0043	a0001c0001t0004g0084 a0001c0001t0004g0134 a0001c0001t0037g0039 others(1): Show a0001c0001t0004g0084 a0001c0001t0004g0134 a0001c0001t0037g0039 a0001c0001t0043g0144	4	142	0.0282	-36	c.584 others(55): Show c.584+18619_584+18654delTCTGCGGTGTGAGGGGCCCCTGCGGT GTGAGGGGCT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar

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