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
CEACAM18_chr19_51473539_51496301	51481325	TGGAGAGG others(12): Show TGGAGAGGAGCAGAGCTTGG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG01069.hp1 others(49): Show HG00323.hp2 HG00408.hp1 HG01069.hp1 HG01070.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02165.hp2 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03130.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG04184.hp2 NA18940.hp1 NA18943.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp1 NA18967.hp1 NA18982.hp2 NA18989.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0004 a0006 a0007 others(2): Show a0004 a0006 a0007 a0008 a0013	a0004c0004 a0004c0017 a0006c0006 others(3): Show a0004c0004 a0004c0017 a0006c0006 a0007c0007 a0008c0008 a0013c0013	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(16): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0004c0004t0010 a0004c0004t0016 a0004c0017t0019 a0006c0006t0001 a0006c0006t0004 a0006c0006t0006 a0006c0006t0009 a0007c0007t0003 a0007c0007t0005 a0007c0007t0013 a0007c0007t0024 a0008c0008t0004 a0008c0008t0005 a0013c0013t0004 a0013c0013t0016	a0004c0004t0001g0003 a0004c0004t0001g0015 a0004c0004t0002g0003 others(26): Show a0004c0004t0001g0003 a0004c0004t0001g0015 a0004c0004t0002g0003 a0004c0004t0002g0009 a0004c0004t0002g0028 a0004c0004t0002g0054 a0004c0004t0003g0009 a0004c0004t0005g0003 a0004c0004t0005g0015 a0004c0004t0010g0003 a0004c0004t0016g0003 a0004c0017t0019g0048 a0006c0006t0001g0024 a0006c0006t0004g0024 a0006c0006t0004g0040 a0006c0006t0004g0042 a0006c0006t0006g0025 a0006c0006t0009g0025 a0006c0006t0009g0041 a0006c0006t0009g0095 a0007c0007t0003g0012 a0007c0007t0003g0045 a0007c0007t0005g0046 a0007c0007t0013g0047 a0007c0007t0024g0043 a0008c0008t0004g0003 a0008c0008t0005g0003 a0013c0013t0004g0014 a0013c0013t0016g0014	52	418	0.1244	-19	c.401 others(32): Show c.401-64_401-46delGAGGAGCAGAGCTTGGGGA	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM18_chr19_51473539_51496301	51493355	TCTTCTTT others(12): Show TCTTCTTTACTTTTGCTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0004 a0016c0019t0004	a0016c0019t0004g0082 a0016c0019t0004g0082	1	418	0.0024	-19	c.27 others(30): Show c.2704_*2722delCTTCTTTACTTTTGCTTTG	CEACAM18	ENSG00000213822.7	transcript	ENST00000396477.5	protein_coding		2055		chr19	TogoVar
CEACAM19_chr19_44666482_44689355	44668062	ATATAATA others(12): Show ATATAATATATAAATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 NA18522.hp2 NA19030.hp1 HG01123.hp1 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0076 a0001c0001t0002g0034 a0001c0001t0002g0076	3	388	0.0077	-19	c.-38 others(30): Show c.-3869_-3851delTATAATATATAAATATATT	CEACAM19	ENSG00000186567.14	transcript	ENST00000358777.10	protein_coding		3419		chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532550	AAGGAAGA others(12): Show AAGGAAGAAAGAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG03540.hp1 HG00738.hp2 HG03540.hp1	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0001 a0021c0028t0001	a0021c0028t0001g0079 a0021c0028t0001g0080 a0021c0028t0001g0079 a0021c0028t0001g0080	2	427	0.0047	-19	c.-30 others(30): Show c.-3060_-3042delCTTTTCTTTCTTTCTTCCT	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2876		chr19	TogoVar
CEACAM21_chr19_41571166_41591844	41590347	GGTCACCT others(12): Show GGTCACCTGTGCTCAGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG02056.hp1 others(5): Show HG00544.hp2 HG00673.hp2 HG02056.hp1 HG02155.hp1 HG03710.hp1 NA18948.hp1 NA18973.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	8	392	0.0204	-19	c.38 others(30): Show c.3885_*3903delGTCACCTGTGCTCAGGTGT	CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding		3504		chr19	TogoVar
CEBPG_chr19_33368709_33387686	33371571	ATTCAGGG others(12): Show ATTCAGGGTAAAATTATGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	434	0.0023	-19	c.-24 others(30): Show c.-2420_-2402delTTCAGGGTAAAATTATGAT	CEBPG	ENSG00000153879.9	transcript	ENST00000284000.9	protein_coding		2137		chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37202644	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG02055.hp2 others(5): Show HG00639.hp2 HG01109.hp1 HG02055.hp2 HG02615.hp2 HG02735.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0033 a0001c0001t0065 others(2): Show a0001c0001t0025 a0001c0001t0033 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067	a0001c0001t0025g0018 a0001c0001t0033g0004 a0001c0001t0033g0023 others(3): Show a0001c0001t0025g0018 a0001c0001t0033g0004 a0001c0001t0033g0023 a0001c0001t0065g0004 a0001c0001t0066g0004 a0001c0001t0067g0023	8	109	0.0734	-19	c.81 others(28): Show c.814_*832delAAAAAAAAAAAAAAAAAAA	CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding	5/5	950	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEBPZ_chr2_37196612_37236596	37202644	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02055.hp1 others(5): Show HG00639.hp1 HG01109.hp1 HG02055.hp1 HG02615.hp2 HG02735.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0001 a0003c0005 a0005c0009 others(1): Show a0001c0001 a0003c0005 a0005c0009 a0009c0013	a0001c0001t0001 a0003c0005t0001 a0005c0009t0001 others(1): Show a0001c0001t0001 a0003c0005t0001 a0005c0009t0001 a0009c0013t0001	a0001c0001t0001g0019 a0001c0001t0001g0152 a0003c0005t0001g0172 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0152 a0003c0005t0001g0172 a0005c0009t0001g0025 a0009c0013t0001g0062	8	102	0.0784	-19	c.302 others(36): Show c.3025+121_3025+139delTTTTTTTTTTTTTTTTTTT	CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	15/15			chr2	TogoVar
CECR2_chr22_17364460_17563151	17468142	AGGGATTT others(12): Show AGGGATTTGTGGAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0245 a0001c0001t0045g0245	1	322	0.0031	-19	c.127 others(36): Show c.127-9443_127-9425delGATTTGTGGAAGAAAGGGG	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17508240	GCCTGAAT others(12): Show GCCTGAATGCATTGTGTTTA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 HG02559.hp1 others(11): Show HG01255.hp2 HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0004 a0001c0001 a0001c0009 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0024 a0001c0001t0045 a0001c0001t0055 a0001c0009t0021 a0004c0004t0029	a0001c0001t0002g0050 a0001c0001t0002g0178 a0001c0001t0003g0098 others(11): Show a0001c0001t0002g0050 a0001c0001t0002g0178 a0001c0001t0003g0098 a0001c0001t0010g0040 a0001c0001t0010g0198 a0001c0001t0010g0270 a0001c0001t0010g0271 a0001c0001t0013g0309 a0001c0001t0019g0013 a0001c0001t0024g0255 a0001c0001t0045g0245 a0001c0001t0055g0150 a0001c0009t0021g0273 a0004c0004t0029g0282	14	322	0.0435	-19	c.870 others(36): Show c.870+3226_870+3244delCTGAATGCATTGTGTTTAC	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17560637	CTCACGGT others(12): Show CTCACGGTCTCCCTCTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00558.hp1 others(40): Show HG00099.hp1 HG00323.hp2 HG00558.hp1 HG00673.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01943.hp2 HG02523.hp1 HG03491.hp1 NA18939.hp1 NA18952.hp1 NA18955.hp1 NA18962.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18994.hp2 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0041 a0001c0001t0057 a0002c0002t0003 a0002c0002t0005 a0002c0002t0042 a0002c0002t0044 a0002c0002t0053	a0001c0001t0002g0096 a0001c0001t0002g0221 a0001c0001t0003g0017 others(40): Show a0001c0001t0002g0096 a0001c0001t0002g0221 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0041 a0001c0001t0003g0071 a0001c0001t0003g0119 a0001c0001t0003g0186 a0001c0001t0003g0202 a0001c0001t0008g0085 a0001c0001t0008g0113 a0001c0001t0008g0126 a0001c0001t0008g0257 a0001c0001t0041g0315 a0001c0001t0057g0129 a0002c0002t0003g0018 a0002c0002t0003g0020 a0002c0002t0003g0025 a0002c0002t0003g0031 a0002c0002t0003g0045 a0002c0002t0003g0056 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0082 a0002c0002t0003g0110 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0139 a0002c0002t0003g0145 a0002c0002t0003g0153 a0002c0002t0003g0201 a0002c0002t0003g0208 a0002c0002t0003g0218 a0002c0002t0003g0233 a0002c0002t0003g0250 a0002c0002t0005g0004 a0002c0002t0005g0302 a0002c0002t0005g0320 a0002c0002t0042g0305 a0002c0002t0044g0083 a0002c0002t0053g0030	43	322	0.1335	-19	c.77 others(30): Show c.7798_*7816delTCACGGTCTCCCTCTCTTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding		2487		chr22	TogoVar
CELA2A_chr1_15451732_15477091	15458908	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01884.hp2 others(21): Show HG00423.hp2 HG01099.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 NA18906.hp2 NA18950.hp2 NA19030.hp2 NA19043.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0095 a0001c0002t0001g0011 a0001c0002t0001g0024 others(15): Show a0001c0001t0001g0095 a0001c0002t0001g0011 a0001c0002t0001g0024 a0001c0002t0001g0055 a0001c0002t0001g0060 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0004t0001g0094 a0001c0004t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0005t0001g0026 a0001c0005t0001g0056 a0001c0005t0001g0057 a0001c0005t0001g0058 a0001c0005t0001g0059	24	27	0.8889	-19	c.129 others(36): Show c.129+1765_129+1783delAAAAAAAAAAAAAAAAAAA	CELA2A	ENSG00000142615.8	transcript	ENST00000359621.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELF1_chr11_47460937_47558132	47526182	AGCCAGGT others(12): Show AGCCAGGTGTGGTGGTGCAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG03041.hp1 HG02622.hp2 HG02717.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0162 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0162	3	338	0.0089	-19	c.-15 others(40): Show c.-153-25269_-153-25251delATGCACCACCACACCTGGC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CELF5_chr19_3219661_3302076	3243485	TTGCCTAG others(12): Show TTGCCTAGGCTGGTCTCGAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	260	0.0038	-19	c.260 others(36): Show c.260-7499_260-7481delTGCCTAGGCTGGTCTCGAA	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12			chr19	TogoVar
CELF5_chr19_3219661_3302076	3301326	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	22	0.0455	-19	c.46 others(30): Show c.4610_*4628delTTTTTTTTTTTTTTTTTTT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding		4251		chr19	TogoVar
CELSR1_chr22_46356174_46542620	46449125	CCACCCAG others(12): Show CCACCCAGCTTCCATCCACT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20129.hp2 HG02258.hp2 NA20129.hp2	a0002 a0019 a0002 a0019	a0002c0015 a0019c0068 a0002c0015 a0019c0068	a0002c0015t0001 a0019c0068t0005 a0002c0015t0001 a0019c0068t0005	a0002c0015t0001g0022 a0019c0068t0005g0001 a0002c0015t0001g0022 a0019c0068t0005g0001	2	102	0.0196	-19	c.418 others(38): Show c.4184-9733_4184-9715delAGTGGATGGAAGCTGGGTG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CEMIP2_chr9_71678366_71773513	71741185	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01167.hp1 others(25): Show HG01070.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01981.hp2 HG02257.hp2 HG03225.hp1 HG03490.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18983.hp1 NA18993.hp2 NA19000.hp1 NA19079.hp2 NA20805.hp2	a0005 a0008 a0005 a0008	a0005c0004 a0005c0017 a0008c0011 others(1): Show a0005c0004 a0005c0017 a0008c0011 a0008c0022	a0005c0004t0001 a0005c0004t0008 a0005c0004t0011 others(11): Show a0005c0004t0001 a0005c0004t0008 a0005c0004t0011 a0005c0004t0022 a0005c0004t0023 a0005c0004t0031 a0005c0004t0032 a0005c0004t0033 a0005c0004t0034 a0005c0017t0001 a0005c0017t0047 a0008c0011t0015 a0008c0011t0030 a0008c0022t0035	a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 others(25): Show a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 a0005c0004t0008g0128 a0005c0004t0011g0005 a0005c0004t0011g0006 a0005c0004t0011g0007 a0005c0004t0011g0008 a0005c0004t0011g0009 a0005c0004t0011g0014 a0005c0004t0011g0017 a0005c0004t0011g0022 a0005c0004t0022g0003 a0005c0004t0022g0021 a0005c0004t0023g0024 a0005c0004t0031g0004 a0005c0004t0032g0012 a0005c0004t0033g0010 a0005c0004t0034g0020 a0005c0017t0001g0230 a0005c0017t0047g0292 a0008c0011t0015g0011 a0008c0011t0015g0015 a0008c0011t0015g0016 a0008c0011t0015g0019 a0008c0011t0015g0023 a0008c0011t0030g0018 a0008c0022t0035g0278	28	84	0.3333	-19	c.103 others(36): Show c.1035-972_1035-954delAAAAAAAAAAAAAAAAAAA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	4/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71760699	GCAATTAA others(12): Show GCAATTAAGAACAGCTAACA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01169.hp2 others(23): Show HG01070.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01981.hp2 HG02257.hp2 HG03490.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp1 NA18962.hp1 NA18969.hp2 NA18971.hp1 NA18983.hp1 NA18993.hp2 NA19000.hp1 NA19079.hp2 NA20805.hp2	a0005 a0008 a0005 a0008	a0005c0004 a0005c0017 a0008c0011 a0005c0004 a0005c0017 a0008c0011	a0005c0004t0001 a0005c0004t0008 a0005c0004t0011 others(9): Show a0005c0004t0001 a0005c0004t0008 a0005c0004t0011 a0005c0004t0022 a0005c0004t0023 a0005c0004t0031 a0005c0004t0032 a0005c0004t0033 a0005c0004t0034 a0005c0017t0001 a0008c0011t0015 a0008c0011t0030	a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 others(23): Show a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 a0005c0004t0008g0128 a0005c0004t0011g0005 a0005c0004t0011g0006 a0005c0004t0011g0007 a0005c0004t0011g0008 a0005c0004t0011g0009 a0005c0004t0011g0014 a0005c0004t0011g0017 a0005c0004t0011g0022 a0005c0004t0022g0003 a0005c0004t0022g0021 a0005c0004t0023g0024 a0005c0004t0031g0004 a0005c0004t0032g0012 a0005c0004t0033g0010 a0005c0004t0034g0020 a0005c0017t0001g0230 a0008c0011t0015g0011 a0008c0011t0015g0015 a0008c0011t0015g0016 a0008c0011t0015g0019 a0008c0011t0015g0023 a0008c0011t0030g0018	26	318	0.0818	-19	c.-13 others(36): Show c.-13+7639_-13+7657delTGTTAGCTGTTCTTAATTG	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01361.hp2 others(25): Show HG00735.hp1 HG00741.hp1 HG01361.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp2 HG02155.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03471.hp2 HG03688.hp1 HG03831.hp2 HG04184.hp1 HG04228.hp2 NA18971.hp2 NA19000.hp2 NA19043.hp2 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0013 a0002c0004 a0008c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0008 a0001c0012t0001 a0001c0013t0004 a0002c0004t0002 a0008c0022t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0043 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0009g0166 a0001c0002t0001g0006 a0001c0002t0001g0147 a0001c0002t0001g0196 a0001c0002t0001g0235 a0001c0002t0002g0066 a0001c0003t0001g0076 a0001c0003t0001g0116 a0001c0003t0001g0118 a0001c0003t0001g0250 a0001c0005t0008g0019 a0001c0012t0001g0114 a0001c0013t0004g0113 a0002c0004t0002g0223 a0008c0022t0001g0144	28	29	0.9655	-19	c.-17 others(40): Show c.-175-24551_-175-24533delTTTTTTTTTTTTTTTTTTT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CEMIP_chr15_80774370_80956771	80911897	GGCTGGGA others(12): Show GGCTGGGAGAGGCTGGGATT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02280.hp1 others(7): Show HG01884.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG02809.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0009 a0001c0001t0001g0095 a0001c0001t0001g0112 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0004g0062 a0001c0001t0006g0135 a0001c0003t0001g0102 a0001c0003t0001g0146 a0001c0003t0006g0253	10	252	0.0397	-19	c.179 others(38): Show c.1797+2609_1797+2627delTTGCTGGGAGAGGCTGGGA	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPF_chr1_214598195_214669571	214616827	CTTCCTTC others(12): Show CTTCCTTCCTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0032 a0032	a0032c0035 a0032c0035	a0032c0035t0002 a0032c0035t0002	a0032c0035t0002g0040 a0032c0035t0002g0040	1	280	0.0036	-19	c.360 others(36): Show c.360-1742_360-1724delCTTCCTCTTTCTTTCTTTC	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPF_chr1_214598195_214669571	214616862	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0007 a0014c0016t0001g0007	1	280	0.0036	-19	c.360 others(36): Show c.360-1708_360-1690delCTTTCTTTCTTTCTTTCTT	CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPK_chr5_65512766_65568168	65514244	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	372	0.0027	-19	c.42 others(30): Show c.4212_*4230delCTAAAAAAAAAAAAAAAAA	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding		3521		chr5	TogoVar
CEP112_chr17_65630537_66197133	65970219	ATACCATG others(12): Show ATACCATGCATATATGCATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00642.hp2 others(51): Show HG00280.hp1 HG00438.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01517.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03492.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0003c0006 a0004c0005 a0005c0010	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(7): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0002c0001t0003 a0003c0006t0001 a0003c0006t0002 a0004c0005t0001 a0005c0010t0001	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(51): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0104 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0032 a0001c0003t0001g0065 a0001c0003t0001g0081 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0001c0003t0007g0004 a0002c0001t0003g0019 a0003c0006t0001g0022 a0003c0006t0002g0110 a0004c0005t0001g0050 a0004c0005t0001g0058 a0005c0010t0001g0010	54	110	0.4909	-19	c.173 others(38): Show c.1737-8640_1737-8622delCATGCATATATGCATGGTA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(47): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01256.hp1 HG01258.hp2 HG01891.hp2 HG01978.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02683.hp1 HG02723.hp1 HG02922.hp1 HG02976.hp2 HG03239.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 NA18612.hp1 NA18942.hp2 NA18943.hp1 NA18960.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18982.hp1 NA18984.hp1 NA18987.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19058.hp2 NA19060.hp1 NA19076.hp2 NA19077.hp1 NA19085.hp1 NA19088.hp1	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0009 a0010 a0012 a0013 a0014	a0001c0001 a0002c0003 a0008c0007 others(5): Show a0001c0001 a0002c0003 a0008c0007 a0009c0018 a0010c0015 a0012c0012 a0013c0011 a0014c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0026 a0002c0003t0003 a0002c0003t0007 a0002c0003t0029 a0002c0003t0058 a0008c0007t0007 a0009c0018t0015 a0010c0015t0035 a0012c0012t0051 a0013c0011t0007 a0014c0010t0003	a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 others(46): Show a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0004g0133 a0001c0001t0008g0003 a0001c0001t0008g0032 a0001c0001t0008g0033 a0001c0001t0008g0037 a0001c0001t0015g0038 a0001c0001t0026g0134 a0002c0003t0003g0002 a0002c0003t0003g0012 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0020 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0029 a0002c0003t0003g0114 a0002c0003t0003g0116 a0002c0003t0003g0118 a0002c0003t0003g0120 a0002c0003t0003g0121 a0002c0003t0003g0122 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0127 a0002c0003t0003g0129 a0002c0003t0003g0131 a0002c0003t0003g0144 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0007g0014 a0002c0003t0007g0019 a0002c0003t0007g0021 a0002c0003t0007g0025 a0002c0003t0007g0026 a0002c0003t0007g0030 a0002c0003t0007g0126 a0002c0003t0029g0027 a0002c0003t0029g0119 a0002c0003t0058g0128 a0008c0007t0007g0117 a0009c0018t0015g0035 a0010c0015t0035g0034 a0012c0012t0051g0002 a0013c0011t0007g0115 a0014c0010t0003g0130	50	56	0.8929	-19	c.-41 others(30): Show c.-4190_-4172delTTTTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP128_chr14_80491479_80946738	80646531	TTAATGAA others(12): Show TTAATGAATAGTATGATAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02615.hp1 others(9): Show HG01081.hp1 HG01891.hp2 HG02615.hp1 HG02647.hp1 HG02922.hp2 HG03130.hp1 HG03516.hp2 HG03540.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0005c0005 a0006c0007 others(1): Show a0001c0001 a0005c0005 a0006c0007 a0007c0010	a0001c0001t0001 a0001c0001t0005 a0005c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0005c0005t0001 a0006c0007t0004 a0007c0010t0005	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0005g0004 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0005g0004 a0001c0001t0005g0006 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0061 a0005c0005t0001g0008 a0006c0007t0004g0148 a0007c0010t0005g0056	12	162	0.0741	-19	c.280 others(40): Show c.2807-66127_2807-66109delTTTATCATACTATTCATTA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP350_chr1_179949810_180119875	179993633	AGGGTGGT others(12): Show AGGGTGGTCTTGAACTCATG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00738.hp1 HG00738.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG02129.hp1 HG02257.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 NA18522.hp2 NA18948.hp2 NA19030.hp2 NA19043.hp1 NA19081.hp2 NA19240.hp1	a0002 a0006 a0008 others(4): Show a0002 a0006 a0008 a0009 a0013 a0023 a0024	a0002c0002 a0002c0020 a0002c0022 others(7): Show a0002c0002 a0002c0020 a0002c0022 a0006c0008 a0006c0031 a0008c0029 a0009c0009 a0013c0021 a0023c0028 a0024c0023	a0002c0002t0002 a0002c0002t0004 a0002c0002t0015 others(11): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0015 a0002c0002t0020 a0002c0020t0019 a0002c0022t0002 a0006c0008t0006 a0006c0008t0011 a0006c0031t0006 a0008c0029t0010 a0009c0009t0008 a0013c0021t0004 a0023c0028t0010 a0024c0023t0002	a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 others(32): Show a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0004g0030 a0002c0002t0004g0031 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0036 a0002c0002t0004g0037 a0002c0002t0015g0020 a0002c0002t0020g0035 a0002c0020t0019g0011 a0002c0022t0002g0003 a0006c0008t0006g0014 a0006c0008t0006g0015 a0006c0008t0006g0016 a0006c0008t0006g0019 a0006c0008t0011g0017 a0006c0031t0006g0018 a0008c0029t0010g0012 a0009c0009t0008g0008 a0009c0009t0008g0009 a0009c0009t0008g0010 a0013c0021t0004g0032 a0023c0028t0010g0013 a0024c0023t0002g0007	35	246	0.1423	-19	c.395 others(36): Show c.395+1434_395+1452delGTGGTCTTGAACTCATGGG	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP350_chr1_179949810_180119875	180045033	TTTTATTG others(12): Show TTTTATTGTTATAAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03239.hp1 HG02257.hp1 HG03239.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0048 a0004c0004t0003g0051 a0004c0004t0003g0048 a0004c0004t0003g0051	2	246	0.0081	-19	c.462 others(36): Show c.4622+863_4622+881delTATTGTTATAAAAAATATT	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	21/37		INFO_REALIGN_3_PRIME	chr1	TogoVar
CEP70_chr3_138489344_138599260	138547016	AAATGAAA others(12): Show AAATGAAATTGAAATGAAAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG03195.hp1 HG02647.hp2 HG02895.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0281 a0002c0002t0001g0195 a0002c0002t0001g0196 a0001c0001t0001g0281 a0002c0002t0001g0195 a0002c0002t0001g0196	3	316	0.0095	-19	c.466 others(36): Show c.466-9688_466-9670delATTTCATTTCAATTTCATT	CEP70	ENSG00000114107.9	transcript	ENST00000264982.8	protein_coding	6/17			chr3	TogoVar
CEP76_chr18_12667625_12707723	12679413	GGAAGCAC others(12): Show GGAAGCACACTAGCAGGCAC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	377	0.0027	-19	c.129 others(36): Show c.1290-990_1290-972delGTGCCTGCTAGTGTGCTTC	CEP76	ENSG00000101624.11	transcript	ENST00000262127.7	protein_coding	9/11			chr18	TogoVar
CERS5_chr12_50124289_50172369	50135146	AGGAGGGA others(12): Show AGGAGGGAGGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0011 a0001c0004t0005g0011	1	318	0.0031	-19	c.873 others(34): Show c.873-463_873-445delCCTCTCTCTCCCTCCCTCC	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	8/9			chr12	TogoVar
CERS6_chr2_168451272_168780134	168542688	CTTTTTTT others(12): Show CTTTTTTTTGGGGGGTGTTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp2 others(40): Show HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01074.hp1 HG01978.hp1 HG02071.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02293.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG03098.hp1 HG03239.hp1 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18906.hp1 NA18945.hp2 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18968.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp1 NA19056.hp1 NA19056.hp2 NA19070.hp2 NA19076.hp1 NA19085.hp2 NA20905.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0003 a0001c0001 a0001c0006 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0001t0034 a0001c0006t0007 a0004c0003t0008	a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0060 others(40): Show a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0060 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0028 a0001c0001t0002g0063 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0157 a0001c0001t0003g0012 a0001c0001t0003g0095 a0001c0001t0003g0118 a0001c0001t0003g0161 a0001c0001t0005g0086 a0001c0001t0005g0093 a0001c0001t0005g0102 a0001c0001t0005g0117 a0001c0001t0005g0136 a0001c0001t0005g0142 a0001c0001t0007g0121 a0001c0001t0008g0092 a0001c0001t0016g0104 a0001c0001t0021g0087 a0001c0001t0023g0045 a0001c0001t0034g0090 a0001c0006t0007g0010 a0004c0003t0008g0106	43	174	0.2471	-19	c.171 others(36): Show c.171-4897_171-4879delGGGGTGTTATTTTTTTTGG	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CES5A_chr16_55841154_55880373	55841335	CCACCATG others(12): Show CCACCATGCACCTATGCAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG03490.hp2 HG01070.hp1 HG01071.hp1 HG03490.hp2	a0002 a0006 a0002 a0006	a0002c0005 a0006c0007 a0002c0005 a0006c0007	a0002c0005t0001 a0006c0007t0001 a0002c0005t0001 a0006c0007t0001	a0002c0005t0001g0236 a0006c0007t0001g0023 a0002c0005t0001g0236 a0006c0007t0001g0023	3	448	0.0067	-19	c.50 others(30): Show c.5097_*5115delATTGCATAGGTGCATGGTG	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding		4818		chr16	TogoVar
CFAP161_chr15_81129270_81154179	81133206	TATATATA others(12): Show TATATATATATATATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp2 NA19059.hp2 HG04184.hp1 HG04184.hp2 NA19059.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0115 a0001c0001t0001g0143 a0002c0002t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0143 a0002c0002t0001g0113	3	446	0.0067	-19	c.-11 others(30): Show c.-1123_-1105delATATATATATATATATATG	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1063		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81133208	TATATATA others(12): Show TATATATATATATATATGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG02280.hp1 HG03486.hp2 others(1): Show HG01928.hp1 HG02280.hp1 HG03486.hp2 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0003g0080 a0001c0001t0003g0081 others(1): Show a0001c0001t0001g0004 a0001c0001t0003g0080 a0001c0001t0003g0081 a0002c0002t0001g0001	4	445	0.0090	-19	c.-11 others(30): Show c.-1121_-1103delATATATATATATATATGTA	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1061		chr15	TogoVar
CFAP161_chr15_81129270_81154179	81133209	ATATATAT others(12): Show ATATATATATATATATGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	437	0.0023	-19	c.-11 others(30): Show c.-1120_-1102delTATATATATATATATGTAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding		1060		chr15	TogoVar
CFAP206_chr6_87402972_87469465	87405890	CCACAACC others(12): Show CCACAACCTATTGGCCAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	374	0.0027	-19	c.-22 others(30): Show c.-2204_-2186delCACAACCTATTGGCCAAAG	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding		2081		chr6	TogoVar
CFAP206_chr6_87402972_87469465	87408455	TGCGCACA others(12): Show TGCGCACACAGATCCGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(67): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00642.hp2 HG00735.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02004.hp1 HG02055.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02257.hp2 HG02293.hp1 HG02572.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG03130.hp1 HG03130.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18959.hp1 NA18966.hp1 NA18970.hp2 NA18975.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA19003.hp2 NA19012.hp1 NA19063.hp1 NA19067.hp2 NA19070.hp2 NA19083.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0005c0006 a0006c0009 a0001c0001 a0005c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0005c0006t0002 a0006c0009t0002	a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0087 others(59): Show a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0087 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0003g0003 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0005c0006t0002g0032 a0005c0006t0002g0055 a0005c0006t0002g0059 a0005c0006t0002g0068 a0006c0009t0002g0069	70	161	0.4348	-19	c.-6+ others(32): Show c.-6+503_-6+521delCACACAGATCCGGAGCGCG	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP20_chr16_58108592_58134381	58109891	AACCATGA others(12): Show AACCATGAGCTCATGAATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	398	0.0025	-19	c.41 others(30): Show c.4115_*4133delACATTCATGAGCTCATGGT	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding		3700		chr16	TogoVar
CFAP210_chr2_169640425_169699405	169653028	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03704.hp1 HG03704.hp2 others(5): Show HG01433.hp1 HG03704.hp1 HG03704.hp2 HG04199.hp1 NA18941.hp1 NA18961.hp1 NA18981.hp1 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0282 a0001c0001t0001g0296 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0282 a0001c0001t0001g0296 a0001c0001t0001g0313 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0002c0002t0001g0323	8	348	0.0230	-19	c.959 others(36): Show c.959+1028_959+1046delATATATATATATATATATT	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169653030	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04184.hp1 NA18953.hp2 HG03669.hp1 HG04184.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0325 a0001c0001t0001g0341 a0001c0001t0001g0256 a0001c0001t0001g0325 a0001c0001t0001g0341	3	310	0.0097	-19	c.959 others(36): Show c.959+1026_959+1044delATATATATATATATATATA	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	6/8			chr2	TogoVar
CFAP210_chr2_169640425_169699405	169687860	CTGCCTCT others(12): Show CTGCCTCTGCAGCAAACTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00733.hp1 others(34): Show HG00438.hp1 HG00621.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01346.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp2 HG02615.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03669.hp2 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18946.hp2 NA18965.hp2 NA19002.hp1 NA19006.hp2 NA19030.hp1 NA21309.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0006c0006 a0011c0014 a0001c0001 a0006c0006 a0011c0014	a0001c0001t0002 a0001c0001t0003 a0006c0006t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0006c0006t0002 a0011c0014t0003	a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102 others(33): Show a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0003g0097 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0006c0006t0002g0013 a0006c0006t0002g0099 a0006c0006t0002g0100 a0011c0014t0003g0098	37	388	0.0954	-19	c.67+ others(34): Show c.67+6382_67+6400delAAAGTTTGCTGCAGAGGCA	CFAP210	ENSG00000154479.13	transcript	ENST00000447353.6	protein_coding	1/8			chr2	TogoVar
CFAP221_chr2_119539449_119661661	119599395	AAGTTTGG others(12): Show AAGTTTGGGTTCATTCACTC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	224	0.0045	-19	c.632 others(36): Show c.632-1821_632-1803delGTTTGGGTTCATTCACTCA	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP299_chr4_80330730_80968750	80697314	TTATTTTA others(12): Show TTATTTTATAGGTTTAAACC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01168.hp1 HG01168.hp2 others(14): Show HG00423.hp2 HG01168.hp1 HG01168.hp2 HG02615.hp1 HG02615.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18950.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0003c0008	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0003c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0063 others(14): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0004t0001g0050 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0094 a0001c0004t0001g0095 a0002c0002t0001g0017 a0002c0005t0001g0058 a0002c0005t0001g0072 a0002c0005t0001g0076 a0002c0005t0001g0077 a0002c0006t0001g0034 a0002c0007t0001g0047 a0003c0008t0001g0085	17	96	0.1771	-19	c.333 others(40): Show c.333+114149_333+114167delCCTATTTTATAGGTTTAAA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP410_chr21_44323944_44344390	44335868	CAGCCACA others(12): Show CAGCCACAGAGAACTGTCGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG02895.hp2 others(1): Show HG02572.hp1 HG02818.hp2 HG02895.hp2 HG03139.hp1	a0005 a0005	a0005c0007 a0005c0011 a0005c0007 a0005c0011	a0005c0007t0001 a0005c0007t0009 a0005c0011t0012 others(1): Show a0005c0007t0001 a0005c0007t0009 a0005c0011t0012 a0005c0011t0025	a0005c0007t0001g0214 a0005c0007t0009g0205 a0005c0011t0012g0059 others(1): Show a0005c0007t0001g0214 a0005c0007t0009g0205 a0005c0011t0012g0059 a0005c0011t0025g0262	4	434	0.0092	-19	c.97- others(30): Show c.97-83_97-65delTCGACAGTTCTCTGTGGCT	CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	2/6			chr21	TogoVar
CFAP44_chr3_113281930_113446493	113328695	TTAAAAAA others(12): Show TTAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0002 a0014c0015t0002	a0014c0015t0002g0047 a0014c0015t0002g0047	1	109	0.0092	-19	c.411 others(36): Show c.4117-895_4117-877delTTTTTTTTTTTTTTTTTTA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFAP46_chr10_132803392_132947570	132820461	ACTGATGT others(12): Show ACTGATGTGTGCTGTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02886.hp1 HG00733.hp2 HG02109.hp2 HG02886.hp1	a0031 a0044 a0052 a0031 a0044 a0052	a0031c0101 a0044c0102 a0052c0037 a0031c0101 a0044c0102 a0052c0037	a0031c0101t0002 a0044c0102t0002 a0052c0037t0001 a0031c0101t0002 a0044c0102t0002 a0052c0037t0001	a0031c0101t0002g0022 a0044c0102t0002g0019 a0052c0037t0001g0230 a0031c0101t0002g0022 a0044c0102t0002g0019 a0052c0037t0001g0230	3	244	0.0123	-19	c.711 others(38): Show c.7118-5566_7118-5548delCACTCACAGCACACATCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132821663	GTGTGTGC others(12): Show GTGTGTGCTGTGTGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	244	0.0041	-19	c.711 others(38): Show c.7118-6768_7118-6750delTCAGCACACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132822831	ATGTGTGC others(12): Show ATGTGTGCTGATGTGTGCAC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0054 a0054	a0054c0105 a0054c0105	a0054c0105t0001 a0054c0105t0001	a0054c0105t0001g0239 a0054c0105t0001g0239	1	239	0.0042	-19	c.711 others(38): Show c.7118-7936_7118-7918delGTGCACACATCAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132824100	GTGATGTG others(12): Show GTGATGTGTGCTGTGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	241	0.0041	-19	c.711 others(38): Show c.7118-9205_7118-9187delGCGCACACAGCACACATCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar

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