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
CGN_chr1_151506387_151543692	151511435	T T	TGCCCGAG others(11): Show TGCCCGAGCCCGAGCCCGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0015 a0015	a0015c0029 a0015c0029	a0015c0029t0032 a0015c0029t0032	a0015c0029t0032g0208 a0015c0029t0032g0208	1	30	0.0333	18	c.-64 others(25): Show c.-64_-47dupGCCCGAGCCCGAGCCCGA	CGN	ENSG00000143375.15	transcript	ENST00000271636.12	protein_coding	1/21	7036	INFO_REALIGN_3_PRIME	chr1	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01256.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0204 a0001c0001t0010g0205 a0001c0001t0001g0204 a0001c0001t0010g0205	2	158	0.0127	18	c.-12 others(35): Show c.-12+1957_-12+1974dupGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	195	0.0051	18	c.-12 others(35): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54535359	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp1 NA18940.hp1 others(8): Show HG00438.hp2 HG02071.hp1 NA18940.hp1 NA18942.hp2 NA18950.hp2 NA18962.hp2 NA18977.hp2 NA18999.hp1 NA19007.hp2 NA19072.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0093 a0002c0002t0002g0011	11	181	0.0608	18	c.571 others(35): Show c.571-2345_571-2328dupACACACACACACACACAC	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAD_chr17_50459496_50473880	50461951	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp1 HG01243.hp1 HG02145.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0009 a0004c0005t0007 a0004c0005t0009	a0004c0005t0007g0066 a0004c0005t0009g0067 a0004c0005t0007g0066 a0004c0005t0009g0067	2	381	0.0052	18	c.31 others(29): Show c.3102_*3103insGCGCACACACACACACAC	CHAD	ENSG00000136457.10	transcript	ENST00000508540.6	protein_coding		2544		chr17	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18945.hp1 NA18955.hp1 HG02040.hp2 NA18945.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220	3	46	0.0652	18	c.104 others(33): Show c.104-429_104-412dupTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00733.hp2 others(24): Show HG00280.hp1 HG00597.hp1 HG00733.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01952.hp1 HG02155.hp1 HG02486.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG03209.hp1 HG04184.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18983.hp1 NA18985.hp1 NA19003.hp1 NA19006.hp1 NA19010.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0014	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0005c0006 a0014c0016	a0001c0001t0003 a0001c0003t0003 a0001c0003t0005 others(5): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0002c0002t0002 a0003c0004t0002 a0005c0006t0002 a0014c0016t0002	a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0326 others(24): Show a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0321 a0001c0003t0003g0322 a0001c0003t0005g0301 a0001c0003t0007g0313 a0002c0002t0002g0030 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0050 a0002c0002t0002g0074 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0092 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0103 a0002c0002t0002g0108 a0002c0002t0002g0111 a0003c0004t0002g0343 a0005c0006t0002g0361 a0014c0016t0002g0075	27	37	0.7297	18	c.960 others(35): Show c.960+1889_960+1906dupTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03486.hp1 HG02109.hp2 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0340 a0003c0004t0002g0344 a0003c0004t0002g0340 a0003c0004t0002g0344	2	8	0.2500	18	c.137 others(37): Show c.1378-1514_1378-1497dupTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36389798	T T	TGCGCGCG others(11): Show TGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03139.hp2 NA18522.hp1 HG03098.hp1 HG03139.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0019 a0001c0001t0007g0278 a0001c0001t0001g0019 a0001c0001t0007g0278	3	321	0.0093	18	c.260 others(35): Show c.260-1752_260-1751insCGCGCGCGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGCG others(11): Show TGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0280 a0001c0001t0006g0280	1	145	0.0069	18	c.260 others(35): Show c.260-1750_260-1749insTGTGCGCGCGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAF1B_chr21_36380392_36424015	36389800	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03453.hp1 HG00639.hp2 HG03453.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0005 a0005c0006t0013 a0001c0001t0005 a0005c0006t0013	a0001c0001t0005g0297 a0005c0006t0013g0308 a0001c0001t0005g0297 a0005c0006t0013g0308	2	146	0.0137	18	c.260 others(35): Show c.260-1750_260-1749insTGTGTGTGTGCGCGCGCG	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHAMP1_chr13_114309503_114332322	114320955	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0139 a0001c0002t0003g0139	1	397	0.0025	18	c.-17 others(35): Show c.-178-142_-178-141insAAAAAAAAAAAAAAAAAA	CHAMP1	ENSG00000198824.8	transcript	ENST00000361283.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHAT_chr10_49609037_49672942	49648726	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0214 a0001c0011t0003g0214	1	34	0.0294	18	c.138 others(35): Show c.1382+134_1382+151dupACACACACACACACACAC	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD3_chr7_132779870_133087090	132843272	T T	TTAAACAG others(11): Show TTAAACAGTAGAGTCTTGG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	308	0.0032	18	c.454 others(35): Show c.454-4821_454-4804dupCCAAGACTCTACTGTTTA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	5/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132938580	A A	ACCATCAA others(11): Show ACCATCAAAACTCAGGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(210): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0004t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(210): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0129 a0001c0001t0005g0308 a0001c0001t0006g0310 a0001c0004t0002g0041 a0002c0002t0001g0248	213	308	0.6916	18	c.369 others(37): Show c.369+36588_369+36589insACTCCTGAGTTTTGATGG	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	19	0.0526	18	c.369 others(37): Show c.369+19995_369+19996insACACACACACACACACCC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01258.hp1 HG03491.hp1 others(8): Show HG00438.hp2 HG01258.hp1 HG03491.hp1 HG03704.hp2 NA18977.hp2 NA18982.hp2 NA19006.hp1 NA19007.hp2 NA19058.hp1 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0142 a0001c0001t0001g0168 others(8): Show a0001c0001t0001g0033 a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0223 a0001c0001t0001g0269 a0001c0001t0001g0279 a0001c0001t0001g0297 a0001c0001t0001g0303	11	29	0.3793	18	c.369 others(37): Show c.369+19978_369+19995dupACACACACACACACACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132963694	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02886.hp2 others(1): Show HG01891.hp2 HG02055.hp2 HG02886.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0002g0214	4	97	0.0412	18	c.369 others(37): Show c.369+11457_369+11474dupGTGTGTGTGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132965059	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0041 a0001c0004t0002g0041	1	82	0.0122	18	c.369 others(37): Show c.369+10092_369+10109dupCACACACACACACACACA	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD3_chr7_132779870_133087090	132990951	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02965.hp1 others(1): Show HG02630.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0188 a0001c0001t0001g0190	4	120	0.0333	18	c.252 others(37): Show c.252-15683_252-15666dupGTGTGTGTGTGTGTGTGT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126823880	T T	TACAAAAA others(11): Show TACAAAAACAAAAACAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp2 HG01496.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0211 a0001c0001t0001g0212	2	188	0.0106	18	c.412 others(37): Show c.412-28757_412-28740dupAAAACAAAAACAAAAACA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02896.hp1 others(7): Show HG01109.hp1 HG02145.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 others(7): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0207	10	14	0.7143	18	c.412 others(37): Show c.412-28083_412-28066dupAAAAAAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126864752	A A	ACTCCTCC others(11): Show ACTCCTCCTCCACCATCAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0004	a0007c0007t0004g0216 a0007c0007t0004g0216	1	207	0.0048	18	c.495 others(37): Show c.495+12054_495+12071dupATCACCTCCTCCTCCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126865100	C C	CTCCACCA others(11): Show CTCCACCACCACCTCCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18522.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0205 a0001c0001t0001g0100 a0001c0001t0001g0205	2	214	0.0093	18	c.495 others(37): Show c.495+12370_495+12371insTCCACCACCACCTCCTTT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CCTTTTTT others(11): Show CCTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01123.hp2 HG01257.hp2 others(9): Show HG00423.hp1 HG01123.hp2 HG01257.hp2 HG01517.hp2 HG03710.hp2 NA18956.hp1 NA18960.hp2 NA18961.hp2 NA18980.hp1 NA18989.hp2 NA19012.hp1 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0024 a0002c0002t0001g0025 others(6): Show a0002c0002t0001g0001 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0110 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0140 a0002c0002t0001g0141	12	37	0.3243	18	c.34 others(29): Show c.3491_*3492insCTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911142	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	322	0.0031	18	c.54- others(33): Show c.54-6045_54-6044insATATATATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	119	0.0084	18	c.54- others(33): Show c.54-6049_54-6048insATATATATATATTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7884446	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	358	0.0028	18	c.-45 others(29): Show c.-4555_-4554insTATATATATATATATATA	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		4342		chr17	TogoVar
CHD3_chr17_7883789_7917755	7885304	T T	TCCGCCGC others(11): Show TCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0001 a0001c0004t0003g0189 a0001c0001t0001g0001 a0001c0004t0003g0189	2	360	0.0056	18	c.-36 others(29): Show c.-3697_-3696insCCGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3484		chr17	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(11): Show CCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02015.hp1 others(7): Show HG01256.hp2 HG01258.hp1 HG02015.hp1 HG02083.hp1 HG02129.hp1 HG03490.hp2 HG04184.hp2 NA18950.hp1 NA19012.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0024 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0136 a0001c0001t0001g0193	10	109	0.0917	18	c.-36 others(29): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD5_chr1_6096787_6185321	6140967	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01167.hp1 HG02257.hp1 others(10): Show HG01070.hp2 HG01167.hp1 HG02257.hp1 HG02280.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0008 others(5): Show a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0021 a0001c0026 a0001c0042	a0001c0004t0076 a0001c0007t0061 a0001c0008t0003 others(8): Show a0001c0004t0076 a0001c0007t0061 a0001c0008t0003 a0001c0010t0004 a0001c0010t0079 a0001c0013t0031 a0001c0013t0041 a0001c0013t0062 a0001c0021t0003 a0001c0026t0003 a0001c0042t0003	a0001c0004t0076g0300 a0001c0007t0061g0031 a0001c0008t0003g0058 others(10): Show a0001c0004t0076g0300 a0001c0007t0061g0031 a0001c0008t0003g0058 a0001c0010t0004g0046 a0001c0010t0079g0303 a0001c0013t0031g0225 a0001c0013t0031g0229 a0001c0013t0041g0016 a0001c0013t0062g0228 a0001c0021t0003g0028 a0001c0021t0003g0029 a0001c0026t0003g0236 a0001c0042t0003g0234	13	71	0.1831	18	c.243 others(37): Show c.2436+1143_2436+1160dupATTATTATTATTATTATT	CHD5	ENSG00000116254.18	transcript	ENST00000262450.8	protein_coding	15/41			chr1	TogoVar
CHD6_chr20_41397083_41623377	41419554	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18941.hp2 NA18971.hp2 others(2): Show HG02083.hp1 NA18941.hp2 NA18971.hp2 NA19012.hp2 NA19079.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0024 a0001c0001 a0018c0024	a0001c0001t0001 a0018c0024t0001 a0001c0001t0001 a0018c0024t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042 a0001c0001t0001g0044 a0018c0024t0001g0024	5	31	0.1613	18	c.612 others(35): Show c.6127+936_6127+953dupTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/36			chr20	TogoVar
CHD6_chr20_41397083_41623377	41504077	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19000.hp1 NA19080.hp2 NA18994.hp2 NA19000.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0303 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0303	3	123	0.0244	18	c.853 others(35): Show c.853-4738_853-4721dupTTTTTTTTTTTTTTTTTT	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	5/36			chr20	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(11): Show CGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04199.hp1 NA18985.hp2 NA19043.hp1 HG04199.hp1 NA18985.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0038 a0001c0001t0039 a0001c0007t0037 a0001c0001t0038 a0001c0001t0039 a0001c0007t0037	a0001c0001t0038g0039 a0001c0001t0039g0001 a0001c0007t0037g0160 a0001c0001t0038g0039 a0001c0001t0039g0001 a0001c0007t0037g0160	3	51	0.0588	18	c.-48 others(27): Show c.-484_-467dupGGCGGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD9NB_chr16_53036484_53057897	53051768	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	62	0.0161	18	c.-18 others(35): Show c.-185+975_-185+992dupATATATATATATATATAT	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	1/2			chr16	TogoVar
CHD9_chr16_53049991_53332497	53051768	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0053 a0001c0003t0002g0053	1	33	0.0303	18	c.-34 others(29): Show c.-3474_-3473insATATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding		3222		chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	34	0.0294	18	c.-16 others(37): Show c.-164-9506_-164-9489dupTATATATATATATATATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(11): Show GTATGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0082 a0006c0011t0003g0082	1	34	0.0294	18	c.-16 others(37): Show c.-164-9504_-164-9503insGTATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	34	0.0294	18	c.-16 others(37): Show c.-164-9506_-164-9505insGTATATATATATATATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHDH_chr3_53807335_53851419	53810758	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02083.hp2 HG02071.hp1 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0052 a0001c0003t0011 a0001c0003t0052	a0001c0003t0011g0119 a0001c0003t0052g0212 a0001c0003t0011g0119 a0001c0003t0052g0212	2	106	0.0189	18	c.70 others(29): Show c.7001_*7018dupTTTTTTTTTTTTTTTTTT	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding		1576		chr3	TogoVar
CHDH_chr3_53807335_53851419	53828162	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0061 a0002c0002t0061	a0002c0002t0061g0061 a0002c0002t0061g0061	1	70	0.0143	18	c.-59 others(35): Show c.-59-4113_-59-4096dupGTGTGTGTGTGTGTGTGT	CHDH	ENSG00000016391.11	transcript	ENST00000315251.11	protein_coding	2/8			chr3	TogoVar
CHEK1_chr11_125620163_125662147	125657187	T T	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02486.hp2 others(10): Show HG01109.hp2 HG02145.hp1 HG02486.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG04228.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0013 a0003c0003t0005 a0001c0001t0005 a0001c0001t0013 a0003c0003t0005	a0001c0001t0005g0009 a0001c0001t0005g0045 a0001c0001t0005g0046 others(5): Show a0001c0001t0005g0009 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0225 a0001c0001t0005g0229 a0001c0001t0013g0227 a0001c0001t0013g0228 a0003c0003t0005g0046	13	71	0.1831	18	c.18 others(29): Show c.1867_*1868insTTTGTGTGTGTGTGTGTG	CHEK1	ENSG00000149554.15	transcript	ENST00000438015.7	protein_coding		41		chr11	TogoVar
CHEK2_chr22_28682743_28746820	28702135	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02523.hp2 NA19091.hp2 HG02155.hp2 HG02523.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0168 a0001c0001t0001g0189 a0001c0001t0001g0190	3	37	0.0811	18	c.908 others(35): Show c.908+1352_908+1369dupCACACACACACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	8/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28708363	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	157	0.0064	18	c.846 others(35): Show c.846+1625_846+1642dupCACACACACACACACACA	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	7/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28729540	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02129.hp1 NA18984.hp1 HG02015.hp2 HG02129.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368	3	103	0.0291	18	c.320 others(35): Show c.320-4191_320-4174dupTTTTTTTTTTTTTTTTTT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHFR_chr12_132827356_132892605	132866577	T T	TGTTACAA others(11): Show TGTTACAACACACCAGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp1 HG02004.hp2 others(4): Show HG01109.hp1 HG01346.hp1 HG02004.hp2 HG02723.hp1 HG03195.hp1 HG03486.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0016 others(1): Show a0001c0001 a0001c0004 a0001c0016 a0005c0009	a0001c0001t0071 a0001c0004t0017 a0001c0016t0017 others(2): Show a0001c0001t0071 a0001c0004t0017 a0001c0016t0017 a0005c0009t0053 a0005c0009t0054	a0001c0001t0071g0345 a0001c0004t0017g0218 a0001c0004t0017g0219 others(4): Show a0001c0001t0071g0345 a0001c0004t0017g0218 a0001c0004t0017g0219 a0001c0004t0017g0220 a0001c0016t0017g0221 a0005c0009t0053g0120 a0005c0009t0054g0108	7	277	0.0253	18	c.583 others(35): Show c.583+3024_583+3041dupTTTCTGGTGTGTTGTAAC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	6/17			chr12	TogoVar
CHGA_chr14_92918150_92940285	92920654	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	42	0.0238	18	c.-27 others(29): Show c.-2706_-2705insAAAAAAAAAAAAAAAAAA	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding		2495		chr14	TogoVar
CHL1_chr3_191763_414417	230262	G G	GGAAGTGG others(11): Show GGAAGTGGTGACTCTTTCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	288	0.0035	18	c.-17 others(39): Show c.-174-14349_-174-14332dupAAGTGGTGACTCTTTCTG	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314329	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp1 HG03017.hp2 HG03491.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0017 a0001c0001 a0019c0017	a0001c0001t0001 a0019c0017t0015 a0001c0001t0001 a0019c0017t0015	a0001c0001t0001g0019 a0019c0017t0015g0034 a0001c0001t0001g0019 a0019c0017t0015g0034	2	67	0.0299	18	c.-94 others(35): Show c.-94-5330_-94-5313dupATATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	314329	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	66	0.0152	18	c.-94 others(35): Show c.-94-5353_-94-5352insGTATATATATATATATAT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar

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