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	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
CRPPA_chr7_16082525_16426538	16176488	ATGAGAAT others(27): Show ATGAGAATGGCTAATATAAAAACAAGAATAGTAAG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19005.hp2 NA19080.hp1 NA18939.hp1 NA19005.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0053 a0001c0001t0005 a0001c0001t0053	a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0053g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0053g0180	3	288	0.0104	-34	c.125 others(55): Show c.1251+39544_1251+39577delCTTACTATTCTTGTTTTTATATTA GCCATTCTCA		CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	9/9						chr7	TogoVar
CRPPA_chr7_16082525_16426538	16312680	AGCTCTTG others(27): Show AGCTCTTGATTTTCTCACCATTAATAATGTTAGCT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0154 a0001c0001t0007g0154	1	288	0.0035	-34	c.685 others(51): Show c.685-4087_685-4054delAGCTAACATTATTAATGGTGAGAAAATC AAGAGC		CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9						chr7	TogoVar
CRTAM_chr11_122833500_122877643	122873921	TTTTTCTT others(27): Show TTTTTCTTACGTTTTCTGCTCTATGTCTTGTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	426	0.0023	-34	c.25 others(45): Show c.2523_*2556delTTTTCTTACGTTTTCTGCTCTATGTCTTGTTTCC		CRTAM	ENSG00000109943.9	transcript	ENST00000227348.9	protein_coding					1279		chr11	TogoVar
CRYAB_chr11_111903564_111916770	111908259	GCGTTATC others(27): Show GCGTTATCCAGAGTTCATTCAGATGTGTTCCAGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG02970.hp1 HG03041.hp1 others(1): Show HG01952.hp1 HG02970.hp1 HG03041.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	396	0.0101	-34	c.47 others(43): Show c.471_*504delGACTGGAACACATCTGAATGAACTCTGGATAACG		CRYAB	ENSG00000109846.9	transcript	ENST00000650687.2	protein_coding					304		chr11	TogoVar
CRYBG1_chr6_106355717_106577017	106433725	ATATATAT others(27): Show ATATATATATACATATATATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00738.hp1 others(11): Show HG00558.hp2 HG00673.hp2 HG00738.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG03688.hp2 NA18945.hp2 NA18956.hp1 NA18983.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0009 a0018 a0028	a0001c0001 a0001c0009 a0004c0004 others(4): Show a0001c0001 a0001c0009 a0004c0004 a0006c0005 a0009c0013 a0018c0021 a0028c0047	a0001c0001t0001 a0001c0001t0004 a0001c0009t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0009t0005 a0004c0004t0017 a0006c0005t0004 a0009c0013t0009 a0018c0021t0004 a0028c0047t0004	a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0059 others(11): Show a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0004g0067 a0001c0009t0005g0018 a0004c0004t0017g0140 a0006c0005t0004g0023 a0006c0005t0004g0039 a0009c0013t0009g0191 a0018c0021t0004g0017 a0028c0047t0004g0066	14	270	0.0519	-34	c.174 others(53): Show c.174-17958_174-17925delCATATATATGTATATATATATGTGTA TATATATA		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
CSAD_chr12_53152663_53185925	53184124	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	331	0.0030	-34	c.-35 others(45): Show c.-3517_-3484delGCGCGCGCACACACACACACACACACACACACAC		CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding					3200		chr12	TogoVar
CSF2RA_chrX_1263814_1314935	1298501	GTCCCCTA others(27): Show GTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	157	0.0064	-34	c.811 others(51): Show c.811-1982_811-1949delTTCAGGAGCCGTAGTGTGACCCTACAAT CCCCTA		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF3R_chr1_36461043_36487913	36484499	CTCTCTCC others(27): Show CTCTCTCCCCCAAATCCCTTTTCACCATCTGATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	-34	c.-18 others(45): Show c.-1803_-1770delATATCAGATGGTGAAAAGGGATTTGGGGGAGAGA		CSF3R	ENSG00000119535.20	transcript	ENST00000373106.6	protein_coding					1587		chr1	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666777	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03017.hp2 HG02145.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0008 a0001c0001t0033 a0001c0002t0008	a0001c0001t0033g0044 a0001c0002t0008g0237 a0001c0001t0033g0044 a0001c0002t0008g0237	2	226	0.0088	-34	c.-39 others(55): Show c.-391-64946_-391-64913delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666781	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03209.hp2 HG03471.hp1 others(1): Show HG02922.hp1 HG03209.hp2 HG03471.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0022 a0001c0001 a0002c0004 a0002c0022	a0001c0001t0002 a0001c0001t0006 a0002c0004t0005 others(1): Show a0001c0001t0002 a0001c0001t0006 a0002c0004t0005 a0002c0022t0011	a0001c0001t0002g0163 a0001c0001t0006g0102 a0002c0004t0005g0015 others(1): Show a0001c0001t0002g0163 a0001c0001t0006g0102 a0002c0004t0005g0015 a0002c0022t0011g0089	4	227	0.0176	-34	c.-39 others(55): Show c.-391-64950_-391-64917delCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666793	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02109.hp1 HG02293.hp1 others(3): Show HG01993.hp1 HG02109.hp1 HG02293.hp1 NA18993.hp1 NA19043.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0010 a0001c0001t0019 a0001c0002t0008 others(1): Show a0001c0001t0010 a0001c0001t0019 a0001c0002t0008 a0001c0017t0023	a0001c0001t0010g0232 a0001c0001t0019g0082 a0001c0002t0008g0022 others(3): Show a0001c0001t0010g0232 a0001c0001t0019g0082 a0001c0002t0008g0022 a0001c0002t0008g0143 a0001c0002t0008g0231 a0001c0017t0023g0011	6	197	0.0305	-34	c.-39 others(55): Show c.-391-64962_-391-64929delCTCTCTCTCTCTCTCTCTTTCTTT CTTTCTTTCT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43188708	CAAAAACT others(27): Show CAAAAACTGTTAATTCTAGTAATTAGAATTCTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	396	0.0025	-34	c.51 others(45): Show c.5167_*5200delAAAAACTGTTAATTCTAGTAATTAGAATTCTTTT		CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding					3407		chr10	TogoVar
CSHL1_chr17_63904608_63916258	63912795	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0007	2	436	0.0046	-34	c.-16 others(45): Show c.-1633_-1600delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding					1538		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3083632	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0035 a0002c0035	a0002c0035t0047 a0002c0035t0047	a0002c0035t0047g0076 a0002c0035t0047g0076	1	124	0.0081	-34	c.747 others(53): Show c.7474+3431_7474+3464delAAAAAAAAAAAAAAAAAATATATATA TATATATA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3262184	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	71	0.0141	-34	c.415 others(55): Show c.4153+21926_4153+21959delATATATATATATATATATATATAT ATATATATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772492	TATATACA others(27): Show TATATACATATATACACATATATACATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0083 a0007c0083	a0007c0083t0004 a0007c0083t0004	a0007c0083t0004g0006 a0007c0083t0004g0006	1	126	0.0079	-34	c.819 others(53): Show c.819-18484_819-18451delGTGTATATATGTATATATGTGTATAT ATGTATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486180	CATATATA others(27): Show CATATATATATATATATATACATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0029 a0029	a0029c0027 a0029c0027	a0029c0027t0003 a0029c0027t0003	a0029c0027t0003g0099 a0029c0027t0003g0099	1	120	0.0083	-34	c.303 others(53): Show c.303-66149_303-66116delATATATATATGTATGTATATATATAT ATATATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD2_chr1_33508998_34170230	33989013	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0001 a0004c0032t0001	a0004c0032t0001g0023 a0004c0032t0001g0023	1	6	0.1667	-34	c.517 others(53): Show c.517+43547_517+43580delATATATATATATATATATATATATAT ATATATAT		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70						chr1	TogoVar
CSMD3_chr8_112217928_113441939	112361572	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0015 a0015	a0015c0035 a0015c0035	a0015c0035t0001 a0015c0035t0001	a0015c0035t0001g0003 a0015c0035t0001g0003	1	13	0.0769	-34	c.613 others(53): Show c.6137-9072_6137-9039delATATATATATATATATATATATATAT ATATATAT		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70						chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02717.hp2 others(1): Show HG02257.hp2 HG02280.hp1 HG02717.hp2 HG02976.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0008 a0001c0001 a0002c0003 a0005c0008	a0001c0001t0002 a0002c0003t0003 a0005c0008t0005 a0001c0001t0002 a0002c0003t0003 a0005c0008t0005	a0001c0001t0002g0067 a0002c0003t0003g0062 a0005c0008t0005g0004 others(1): Show a0001c0001t0002g0067 a0002c0003t0003g0062 a0005c0008t0005g0004 a0005c0008t0005g0005	4	11	0.3636	-34	c.710 others(53): Show c.710-13457_710-13424delATATATATATATATATATATATATAT ATATATAT		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542606	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01358.hp1 others(8): Show HG00639.hp2 HG00738.hp2 HG01358.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02965.hp2 HG03139.hp2 HG03471.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039	a0001c0001t0003g0322 a0001c0001t0004g0006 a0001c0001t0004g0248 others(8): Show a0001c0001t0003g0322 a0001c0001t0004g0006 a0001c0001t0004g0248 a0001c0001t0004g0250 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0264 a0001c0001t0004g0305 a0001c0001t0023g0263 a0001c0001t0038g0242 a0001c0001t0039g0251	11	353	0.0312	-34	c.230 others(51): Show c.230+7435_230+7468delCATATATATATATATATATATATATATA TATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542638	ATGTATAT others(27): Show ATGTATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19090.hp2 HG02615.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0108 a0001c0001t0009g0262 a0001c0001t0001g0108 a0001c0001t0009g0262	2	370	0.0054	-34	c.230 others(51): Show c.230+7403_230+7436delCATATATATATATATATATATATATATA TATACA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542640	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	329	0.0030	-34	c.230 others(51): Show c.230+7401_230+7434delTACATATATATATATATATATATATATA TATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSTF3_chr11_33079584_33166480	33163909	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	355	0.0028	-34	c.-26 others(45): Show c.-2618_-2585delAAAAAAAAAAAAAAAAAATATATATATATATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					2430		chr11	TogoVar
CTCF_chr16_67557526_67644177	67624069	ATATGTGT others(27): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02602.hp2 others(5): Show HG02055.hp1 HG02145.hp1 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG03486.hp2 HG03654.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 others(5): Show a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0002t0003g0142	8	156	0.0513	-34	c.135 others(53): Show c.1357+2480_1358-2451delATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
CTNNA2_chr2_79508051_80653780	79508955	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01106.hp2 others(16): Show HG00642.hp1 HG00673.hp1 HG01106.hp2 HG01167.hp1 HG02109.hp1 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 HG03927.hp1 HG04228.hp2 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0012 a0001c0016 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0002 a0001c0009t0001 a0001c0012t0002 a0001c0016t0001 a0002c0006t0001	a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0042 others(16): Show a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0002g0041 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0047 a0001c0002t0003g0036 a0001c0003t0001g0038 a0001c0003t0002g0044 a0001c0004t0002g0048 a0001c0005t0002g0043 a0001c0009t0001g0003 a0001c0012t0002g0019 a0001c0016t0001g0045 a0002c0006t0001g0020 a0002c0006t0001g0040	19	24	0.7917	-34	c.-42 others(45): Show c.-4257_-4224delTATATATATATATATATATATATATATATATATA		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding					4095		chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79521107	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03688.hp1 HG00673.hp2 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0008 a0001c0005t0002g0009 a0001c0003t0002g0008 a0001c0005t0002g0009	2	12	0.1667	-34	c.-6+ others(49): Show c.-6+7928_-6+7961delTATATATATATATATATATATATATATATA TATA		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79605500	ATCTTATA others(27): Show ATCTTATAGTTCAAGATCAAGGATAACCATAATAC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	68	0.0147	-34	c.-5- others(51): Show c.-5-46050_-5-46017delCTTATAGTTCAAGATCAAGGATAACCAT AATACT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66957395	TATATATA others(27): Show TATATATATATATATATATGCATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02895.hp1 others(4): Show HG02145.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03130.hp1 HG06807.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0003c0009 a0004c0010	a0001c0001t0001 a0001c0001t0009 a0001c0004t0007 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0004t0007 a0001c0005t0010 a0002c0002t0003 a0003c0009t0003 a0004c0010t0002	a0001c0001t0001g0006 a0001c0001t0009g0030 a0001c0004t0007g0005 others(4): Show a0001c0001t0001g0006 a0001c0001t0009g0030 a0001c0004t0007g0005 a0001c0005t0010g0029 a0002c0002t0003g0039 a0003c0009t0003g0036 a0004c0010t0002g0021	7	46	0.1522	-34	c.104 others(57): Show c.1048-181905_1048-181872delGCATATATATATATGCATATAT ATATATATATAT		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17						chr10	TogoVar
CUL1_chr7_148693903_148806110	148779838	AGTGGGCT others(27): Show AGTGGGCTGGGAAAGGCAGACCCACCCTCAATCTG	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	336	0.0030	-34	c.108 others(53): Show c.1084-3938_1084-3905delTGGGAAAGGCAGACCCACCCTCAATC TGGTGGGC		CUL1	ENSG00000055130.18	transcript	ENST00000325222.9	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr7	TogoVar
CWF19L2_chr11_107321360_107462825	107460485	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0371 a0001c0001t0005g0371	1	13	0.0769	-34	c.-27 others(45): Show c.-2703_-2670delTATATATATATATATATATATATATATATATATA		CWF19L2	ENSG00000152404.16	transcript	ENST00000282251.10	protein_coding					2661		chr11	TogoVar
CXCL1_chr4_73864393_73876308	73867731	TATATATA others(27): Show TATATATATATATATATATATATATAAATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03540.hp1 NA18982.hp2 others(2): Show HG02109.hp2 HG03540.hp1 NA18982.hp2 NA18989.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0002t0001g0004 a0001c0002t0002g0001 a0001c0001t0001g0003 a0001c0002t0001g0004 a0001c0002t0002g0001	5	445	0.0112	-34	c.-17 others(45): Show c.-1739_-1706delATATATATATATATATATATATATAAATATATAA		CXCL1	ENSG00000163739.5	transcript	ENST00000395761.4	protein_coding					1661		chr4	TogoVar
CYB5R1_chr1_202956873_202972257	202958227	CTACATCC others(27): Show CTACATCCCGCGGCGCTGGAGGCGGCCTGCGGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	448	0.0022	-34	c.42 others(45): Show c.4266_*4299delCGGCCGCAGGCCGCCTCCAGCGCCGCGGGATGTA		CYB5R1	ENSG00000159348.13	transcript	ENST00000367249.9	protein_coding					3645		chr1	TogoVar
CYBRD1_chr2_171517474_171563129	171558345	TAAATATC others(27): Show TAAATATCATATATTTATATATAATATTTACTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0237 a0001c0001t0027g0237	1	392	0.0026	-34	c.35 others(45): Show c.3519_*3552delAAATATCATATATTTATATATAATATTTACTATA		CYBRD1	ENSG00000071967.12	transcript	ENST00000321348.9	protein_coding					217		chr2	TogoVar
CYLC2_chr9_102990333_103023488	103014151	TTAATATA others(27): Show TTAATATATAATATGAATATTATATATCTCATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG03453.hp2 others(1): Show HG02886.hp2 HG02965.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0020 a0001c0001t0014 a0001c0001t0020	a0001c0001t0014g0148 a0001c0001t0014g0158 a0001c0001t0020g0049 a0001c0001t0014g0148 a0001c0001t0014g0158 a0001c0001t0020g0049	4	441	0.0091	-34	c.81 others(53): Show c.816+2102_*816+2135delGAATATTATATATCTCATATATAATA TATAATAT		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP2A13_chr19_41083451_41101195	41089804	GTCTCTCT others(27): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	26	0.0385	-34	c.344 others(49): Show c.344-208_344-175delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC		CYP2A13	ENSG00000197838.5	transcript	ENST00000330436.4	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2J2_chr1_59888308_59931773	59929559	TATCAATA others(27): Show TATCAATAATGAGATAGAAATTATAAAAAAGTGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	-34	c.-28 others(45): Show c.-2847_-2814delTCCACTTTTTTATAATTTCTATCTCATTATTGAT		CYP2J2	ENSG00000134716.11	transcript	ENST00000371204.4	protein_coding					2787		chr1	TogoVar
CYP2S1_chr19_41188219_41212539	41205346	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG02809.hp2 others(1): Show HG01891.hp1 HG02723.hp2 HG02809.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0136 a0004c0008t0001g0041 a0004c0008t0001g0163 a0001c0001t0001g0136 a0004c0008t0001g0041 a0004c0008t0001g0163	4	406	0.0099	-34	c.116 others(51): Show c.1165-610_1165-577delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT		CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15674426	CTCGCGCA others(27): Show CTCGCGCATTCCTCTCATTCGCGCATTCCTCTCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG00673.hp1 others(34): Show HG00438.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp2 HG01175.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01978.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG03017.hp2 HG03471.hp2 HG03579.hp1 HG03654.hp1 NA18747.hp2 NA18953.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18978.hp1 NA18981.hp1 NA18984.hp1 NA18994.hp2 NA19002.hp1 NA19074.hp2 NA19084.hp2 NA19085.hp1 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0010 a0011	a0001c0001 a0002c0002 a0002c0019 others(3): Show a0001c0001 a0002c0002 a0002c0019 a0006c0006 a0010c0015 a0011c0018	a0001c0001t0001 a0002c0002t0001 a0002c0019t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0019t0001 a0006c0006t0001 a0010c0015t0001 a0011c0018t0001	a0001c0001t0001g0144 a0002c0002t0001g0004 a0002c0002t0001g0017 others(16): Show a0001c0001t0001g0144 a0002c0002t0001g0004 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0044 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0211 a0002c0019t0001g0004 a0006c0006t0001g0016 a0006c0006t0001g0139 a0006c0006t0001g0140 a0010c0015t0001g0212 a0011c0018t0001g0017	37	408	0.0907	-34	c.198 others(49): Show c.198+702_198+735delGCGCATTCCTCTCATTCGCGCATTCCTCTC ATTC		CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15665670	ATTTATAA others(27): Show ATTTATAACAAGGCAGATAAGGAAAGCCAACATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0325 a0001c0002t0017g0325	1	422	0.0024	-34	c.62 others(45): Show c.6286_*6319delTTTATAACAAGGCAGATAAGGAAAGCCAACATTT		CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding					2846		chr19	TogoVar
CYP4V2_chr4_186186567_186218463	186204364	AAGAGGCG others(27): Show AAGAGGCGGCGGTGGAGGCGCTACGCTGGCGTAAG	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0215 a0002c0001t0001g0215	1	448	0.0022	-34	c.988 others(49): Show c.988-833_988-800delAGGCGGCGGTGGAGGCGCTACGCTGGCGTA AGAG		CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CYTH3_chr7_6156779_6277624	6259757	TTATATAT others(27): Show TTATATATATATATATTATATATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	258	0.0039	-34	c.34+ others(51): Show c.34+12683_34+12716delTATATATTATATATATATAATATATATA TATATA		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12						chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241741663	GTGGGGCT others(27): Show GTGGGGCTTGCTGTCTCCAGGGTTTATTTCATGTA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp2 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0128 a0001c0001t0002g0101 a0001c0001t0002g0128	2	175	0.0114	-34	c.350 others(49): Show c.350+641_351-671delATGGGGCTTGCTGTCTCCAGGGTTTATTTC ATGT		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
DACH1_chr13_71432966_71872204	71552812	TATATATA others(27): Show TATATATATATATATATATATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0013 a0003c0003t0013	a0003c0003t0013g0006 a0003c0003t0013g0006	1	100	0.0100	-34	c.157 others(53): Show c.1570+4178_1570+4211delCTCTATATATATATATATATATATAT ATATATAT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	6/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71735276	ATGTATAT others(27): Show ATGTATATGGGATATACACGTATACGGGATATACG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	90	0.0111	-34	c.849 others(53): Show c.849-53400_849-53367delCGTATATCCCGTATACGTGTATATCC CATATACA		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71735379	TGTATATG others(27): Show TGTATATGGGATATACACGTATACGGGATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03195.hp2 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0003g0019 a0001c0001t0001g0009 a0001c0001t0003g0019	2	53	0.0377	-34	c.849 others(53): Show c.849-53503_849-53470delGTGTATATCCCGTATACGTGTATATC CCATATAC		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DACH1_chr13_71432966_71872204	71816581	CGTATATA others(27): Show CGTATATATATACACACATATGTGTGTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	96	0.0104	-34	c.848 others(53): Show c.848+49307_848+49340delATATATATACACACATATGTGTGTAT ATATATAC		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DACH2_chrX_86143451_86837602	86274458	TTTTTTTC others(27): Show TTTTTTTCTTTTTTTTTTGAGACGGAGTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01884.hp1 HG02451.hp1 others(13): Show HG00621.hp1 HG01884.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp1 HG02738.hp1 HG02922.hp2 HG02965.hp1 HG03516.hp2 HG03688.hp1 NA18747.hp1 NA18955.hp1 NA18995.hp1 NA19012.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0071 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0104 a0001c0001t0002g0116 a0001c0001t0002g0162	16	166	0.0964	-34	c.489 others(55): Show c.489-102359_489-102326delCTTTTTTTTTTGAGACGGAGTCTT TCTGTTTTTT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
DAPL1_chr2_158790317_158820990	158791953	TTCTTTCT others(27): Show TTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	356	0.0028	-34	c.-34 others(45): Show c.-3419_-3386delTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC		DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding					3363		chr2	TogoVar
DAXX_chr6_33313558_33327959	33318792	GCCACACT others(27): Show GCCACACTTGTCTGCAGGGAAGTGAGAGACAAAGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19085.hp1 NA19085.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0026 a0006c0011t0001g0026	1	374	0.0027	-34	c.216 others(46): Show c.2164-24_2173delTCTTTGTCTCTCACTTCCCTGCAGACAAGTGTG G	p.Thr others(5): Show p.Thr722fs	DAXX	ENSG00000204209.13	transcript	ENST00000374542.10	protein_coding	8/8	2323/2558	2164/2223	722/740			chr6	TogoVar

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