Joint Open Genome and Omics Platform (JoGo)

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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
AP3B1_chr5_77997326_78299698	78166117	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00558.hp1 others(43): Show HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00735.hp2 HG00741.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01884.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp1 HG02523.hp1 HG02647.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02922.hp1 HG03471.hp1 HG03834.hp1 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18952.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19009.hp1 NA19057.hp1 NA19063.hp2 NA19068.hp2 NA19081.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0003c0009 a0009c0016	a0001c0001t0001 a0001c0002t0002 a0001c0004t0002 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0002 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0003c0009t0002 a0009c0016t0001	a0001c0001t0001g0042 a0001c0001t0001g0082 a0001c0001t0001g0126 others(43): Show a0001c0001t0001g0042 a0001c0001t0001g0082 a0001c0001t0001g0126 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0002t0002g0075 a0001c0002t0002g0143 a0001c0004t0002g0007 a0001c0004t0002g0085 a0001c0006t0001g0113 a0001c0006t0001g0114 a0002c0003t0001g0010 a0002c0003t0001g0041 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0065 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0070 a0002c0003t0001g0073 a0002c0003t0001g0081 a0002c0003t0001g0088 a0002c0003t0001g0092 a0002c0003t0001g0101 a0002c0003t0001g0218 a0002c0003t0001g0219 a0002c0003t0002g0064 a0003c0009t0002g0078 a0009c0016t0001g0090	46	54	0.8519	-12	c.116 others(29): Show c.1168-457_1168-446delTGTGTGTGTGTG		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26						chr5	TogoVar
AP3B1_chr5_77997326_78299698	78166162	CACACACA others(5): Show CACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	223	0.0045	-12	c.116 others(29): Show c.1168-502_1168-491delTTGTGTGTGTGT		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26						chr5	TogoVar
AP3B1_chr5_77997326_78299698	78202552	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01981.hp2 HG02451.hp1 others(3): Show HG01934.hp2 HG01981.hp2 HG02451.hp1 HG02630.hp1 NA19063.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0002	a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0213 others(3): Show a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0002g0017 a0001c0004t0001g0077 a0001c0005t0002g0192	6	21	0.2857	-12	c.786 others(31): Show c.786+13491_786+13502delACACACACACAC		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26						chr5	TogoVar
AP3B1_chr5_77997326_78299698	78247282	GATAATAT others(5): Show GATAATATAGATA	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0089 a0002c0003t0001g0089	1	224	0.0045	-12	c.205 others(29): Show c.205-6358_205-6347delTATCTATATTAT		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	2/26						chr5	TogoVar
AP3B2_chr15_82654281_82714875	82665376	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 NA18986.hp2 HG02258.hp2 HG03209.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0299 a0001c0001t0001g0316 a0001c0001t0001g0165 a0001c0001t0001g0299 a0001c0001t0001g0316	3	30	0.1000	-12	c.197 others(27): Show c.1971+69_1972-74delGTGTGTGTGTGT		AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26						chr15	TogoVar
AP3D1_chr19_2095988_2156566	2102728	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00609.hp2 others(53): Show HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00735.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG02080.hp1 HG02132.hp1 HG02155.hp1 HG02258.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp2 HG06807.hp1 NA18939.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18963.hp2 NA18965.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19074.hp1 NA19085.hp1 NA19088.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0021 a0002c0007 a0002c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0003t0005 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002 a0001c0006t0008 a0001c0006t0015 a0001c0011t0005 a0001c0021t0001 a0002c0007t0004 a0002c0009t0002	a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0140 others(53): Show a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0003g0373 a0001c0001t0006g0138 a0001c0001t0010g0396 a0001c0002t0001g0188 a0001c0002t0001g0259 a0001c0002t0001g0262 a0001c0002t0001g0268 a0001c0002t0001g0322 a0001c0003t0005g0115 a0001c0003t0005g0212 a0001c0003t0005g0213 a0001c0004t0002g0046 a0001c0005t0002g0025 a0001c0005t0002g0034 a0001c0006t0002g0261 a0001c0006t0002g0307 a0001c0006t0002g0310 a0001c0006t0002g0311 a0001c0006t0002g0312 a0001c0006t0002g0314 a0001c0006t0002g0329 a0001c0006t0008g0257 a0001c0006t0008g0318 a0001c0006t0015g0383 a0001c0011t0005g0210 a0001c0011t0005g0211 a0001c0021t0001g0165 a0002c0007t0004g0385 a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 a0002c0007t0004g0389 a0002c0007t0004g0390 a0002c0007t0004g0391 a0002c0007t0004g0392 a0002c0007t0004g0393 a0002c0007t0004g0394 a0002c0009t0002g0266 a0002c0009t0002g0275 a0002c0009t0002g0276 a0002c0009t0002g0277	56	81	0.6914	-12	c.355 others(29): Show c.3553-472_3553-461delATTTATTTATTT		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2139059	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0053 a0001c0003t0002g0053	1	159	0.0063	-12	c.97- others(25): Show c.97-357_97-346delTTTTTTTTTTTT		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/31						chr19	TogoVar
AP3M1_chr10_74115255_74155828	74149267	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02818.hp2 others(1): Show HG02258.hp2 HG02622.hp1 HG02818.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0024 a0001c0003t0004 a0001c0003t0024	a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0196 others(1): Show a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0024g0193	4	47	0.0851	-12	c.-4+ others(27): Show c.-4+1476_-4+1487delAAAAAAAAAAAA		AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8						chr10	TogoVar
AP3M2_chr8_42148063_42176183	42152404	GGTGGAGA others(5): Show GGTGGAGAGACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	390	0.0026	-12	c.-77 others(21): Show c.-773_-762delGTGGAGAGACCC		AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding					658		chr8	TogoVar
AP3S1_chr5_115836935_115919081	115845836	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02738.hp1 HG02896.hp1 others(1): Show HG02615.hp1 HG02738.hp1 HG02896.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0013 a0001c0001t0001g0197 a0001c0001t0001g0198	4	72	0.0556	-12	c.69+ others(27): Show c.69+3757_69+3768delAAAAAAAAAAAA		AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89844209	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG01071.hp1 others(9): Show HG00099.hp1 HG00621.hp1 HG01071.hp1 HG01169.hp2 HG01358.hp2 HG02559.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 NA18945.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018 a0001c0001t0027	a0001c0001t0003g0008 a0001c0001t0003g0097 a0001c0001t0003g0126 others(8): Show a0001c0001t0003g0008 a0001c0001t0003g0097 a0001c0001t0003g0126 a0001c0001t0005g0001 a0001c0001t0007g0005 a0001c0001t0007g0024 a0001c0001t0007g0026 a0001c0001t0008g0099 a0001c0001t0008g0123 a0001c0001t0018g0089 a0001c0001t0027g0106	12	253	0.0474	-12	c.346 others(29): Show c.346-6499_346-6488delAAGAAAGAAAGA		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89844261	TTCTTTCT others(5): Show TTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01081.hp1 others(26): Show HG00597.hp1 HG00735.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02300.hp1 HG02451.hp2 HG02965.hp1 HG03041.hp2 NA18522.hp2 NA18747.hp1 NA18947.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp1 NA19007.hp2 NA19060.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0021 a0001c0001t0032 a0001c0001t0033	a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0218 others(25): Show a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0267 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0214 a0001c0001t0002g0226 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0264 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0006g0207 a0001c0001t0009g0015 a0001c0001t0009g0290 a0001c0001t0011g0210 a0001c0001t0014g0023 a0001c0001t0021g0152 a0001c0001t0032g0221 a0001c0001t0033g0191	29	310	0.0935	-12	c.346 others(29): Show c.346-6551_346-6540delGAGAAAGAAAGA		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858485	AAGAAAGA others(5): Show AAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0287 a0003c0004t0016g0287	1	285	0.0035	-12	c.345 others(31): Show c.345+12978_345+12989delCTCTTTCTTTCT		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP3S2_chr15_89825599_89898994	89859170	CCTTCCTT others(5): Show CCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	310	0.0032	-12	c.345 others(31): Show c.345+12293_345+12304delAAAGGAAGGAAG		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5						chr15	TogoVar
AP4E1_chr15_50903683_51010895	50908713	GGCCGGGC others(5): Show GGCCGGGCATGAA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0306 a0001c0001t0029g0306	1	390	0.0026	-12	c.-58 others(19): Show c.-58_-47delATGAAGCCGGGC		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	1/21				47	INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50919535	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02257.hp1 others(12): Show HG01167.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02965.hp1 HG03209.hp2 HG03516.hp2 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0002c0003t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0003t0006 a0002c0006t0015	a0001c0001t0001g0002 a0001c0001t0001g0208 a0001c0001t0001g0209 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0323 a0001c0001t0004g0207 a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 a0002c0003t0006g0189 a0002c0003t0006g0190 a0002c0003t0006g0191 a0002c0003t0006g0192 a0002c0006t0015g0347 a0002c0006t0015g0348	15	178	0.0843	-12	c.346 others(29): Show c.346+3995_346+4006delATAAATAAATAA		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	3/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51008016	TTTTTTTT others(5): Show TTTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0342 a0001c0001t0003g0342	1	390	0.0026	-12	c.53 others(23): Show c.5355_*5366delTTTTTTTTTTTG		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding					2122		chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049426	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0275 a0001c0001t0010g0275	1	341	0.0029	-12	c.-71 others(31): Show c.-71-16698_-71-16687delAATATATATATA		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18971.hp2 NA19057.hp2 others(1): Show HG02074.hp2 NA18971.hp2 NA19057.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 others(1): Show a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274	4	182	0.0220	-12	c.-71 others(31): Show c.-71-16675_-71-16664delATATATATATAT		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049461	ATGTATAT others(5): Show ATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0211 a0001c0001t0015g0211	1	343	0.0029	-12	c.-71 others(31): Show c.-71-16663_-71-16652delGTATATATATGT		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049464	TATATATA others(5): Show TATATATATGTAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0242 a0001c0001t0005g0242	1	328	0.0030	-12	c.-71 others(31): Show c.-71-16660_-71-16649delTATATATGTACA		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31054867	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0090 a0001c0001t0011g0090	1	75	0.0133	-12	c.-71 others(31): Show c.-71-11241_-71-11230delAAAAAAAAAAAA		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058517	CTGTGTGT others(5): Show CTGTGTGTGTATG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0327 a0001c0001t0006g0328	2	295	0.0068	-12	c.-71 others(29): Show c.-71-7599_-71-7588delATGTGTGTGTGT		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31074324	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(55): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp2 HG01952.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp2 HG02258.hp2 HG02602.hp2 HG02698.hp2 HG02818.hp1 HG03017.hp2 HG03239.hp1 HG03540.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18939.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19065.hp1 NA19068.hp1 NA19075.hp2 NA19081.hp1 NA19082.hp2 NA19091.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0040	a0001c0001t0001g0093 a0001c0001t0001g0118 a0001c0001t0001g0141 others(55): Show a0001c0001t0001g0093 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0241 a0001c0001t0005g0242 a0001c0001t0005g0279 a0001c0001t0005g0305 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0040g0324	58	200	0.2900	-12	c.294 others(29): Show c.294+1383_294+1394delTAAATAAATAAA		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5B1_chr11_65768898_65785976	65769257	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 NA20752.hp2 HG01346.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	61	0.0328	-12	c.85 others(23): Show c.8587_*8598delTTTTTTTTTTTT		AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding					4640		chr11	TogoVar
AP5M1_chr14_57263971_57303742	57300718	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00738.hp1 others(45): Show HG00597.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01928.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG03017.hp2 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp1 NA18612.hp2 NA18941.hp1 NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp2 NA18983.hp1 NA18985.hp2 NA18994.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19082.hp1 NA19082.hp2 NA19089.hp1 NA20300.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0002 a0005c0006 others(1): Show a0001c0001 a0001c0002 a0005c0006 a0008c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0002t0002 a0005c0006t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0005g0001 a0001c0001t0008g0092 a0001c0001t0009g0001 a0001c0001t0014g0001 a0001c0001t0020g0027 a0001c0001t0033g0001 a0001c0001t0034g0001 a0001c0001t0040g0002 a0001c0001t0041g0002 a0001c0002t0002g0009 a0005c0006t0001g0001 a0008c0010t0001g0001	48	53	0.9057	-12	c.11 others(25): Show c.11835_*11846delTTTTTTTTTTTT		AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding					1977		chr14	TogoVar
AP5Z1_chr7_4770623_4799397	4789990	TCTCCCCT others(5): Show TCTCCCCTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01496.hp1 others(10): Show HG01081.hp1 HG01175.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG02630.hp2 HG02886.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2	a0001 a0006 a0014 a0001 a0006 a0014	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0006c0008 a0014c0028	a0001c0001t0049 a0001c0002t0017 a0001c0005t0009 others(3): Show a0001c0001t0049 a0001c0002t0017 a0001c0005t0009 a0001c0005t0048 a0006c0008t0013 a0014c0028t0047	a0001c0001t0049g0082 a0001c0002t0017g0024 a0001c0005t0009g0030 others(7): Show a0001c0001t0049g0082 a0001c0002t0017g0024 a0001c0005t0009g0030 a0001c0005t0009g0031 a0001c0005t0009g0083 a0001c0005t0009g0084 a0001c0005t0048g0030 a0006c0008t0013g0032 a0006c0008t0013g0086 a0014c0028t0047g0085	13	338	0.0385	-12	c.180 others(27): Show c.1805+69_1805+80delCCCCCCTCCCCT		AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
AP5Z1_chr7_4770623_4799397	4791165	CCAGCTCC others(5): Show CCAGCTCCACGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01070.hp2 HG01071.hp1 HG01243.hp2 others(22): Show HG01070.hp2 HG01071.hp1 HG01243.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02922.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0019	a0003c0004 a0005c0011 a0005c0018 others(2): Show a0003c0004 a0005c0011 a0005c0018 a0010c0013 a0019c0029	a0003c0004t0004 a0003c0004t0007 a0005c0011t0007 others(4): Show a0003c0004t0004 a0003c0004t0007 a0005c0011t0007 a0005c0018t0019 a0010c0013t0021 a0010c0013t0045 a0019c0029t0020	a0003c0004t0004g0003 a0003c0004t0004g0054 a0003c0004t0004g0066 others(9): Show a0003c0004t0004g0003 a0003c0004t0004g0054 a0003c0004t0004g0066 a0003c0004t0004g0067 a0003c0004t0007g0016 a0003c0004t0007g0072 a0003c0004t0007g0095 a0005c0011t0007g0027 a0005c0018t0019g0052 a0010c0013t0021g0029 a0010c0013t0045g0029 a0019c0029t0020g0076	25	338	0.0740	-12	c.220 others(21): Show c.2209_2220delTCCACGCACAGC	p.Ser others(13): Show p.Ser737_Ser740del	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	17/17	2302/5529	2209/2424	737/807		INFO_REALIGN_3_PRIME	chr7	TogoVar
APAF1_chr12_98640290_98740433	98653656	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	229	0.0044	-12	c.526 others(29): Show c.526+3997_526+4008delAAAAAAAAAAAA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653685	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp2 HG01884.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0013g0291 a0001c0001t0013g0292	2	340	0.0059	-12	c.526 others(29): Show c.526+4003_526+4014delAAAAAATATATA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715235	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02083.hp2 HG02135.hp1 others(13): Show HG00140.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02293.hp1 HG02451.hp2 HG03041.hp2 NA18940.hp2 NA18952.hp2 NA18972.hp2 NA18982.hp2 NA18991.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0027	a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0093 others(13): Show a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0197 a0001c0001t0001g0255 a0001c0001t0001g0278 a0001c0001t0005g0039 a0001c0001t0005g0107 a0001c0001t0006g0212 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0010g0281 a0001c0001t0010g0285 a0001c0001t0010g0286 a0001c0001t0010g0287 a0001c0001t0027g0201	16	88	0.1818	-12	c.295 others(29): Show c.2959-157_2959-146delATATATATATAT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69501629	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01070.hp1 HG01099.hp1 others(49): Show HG00597.hp2 HG01070.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02135.hp2 HG02145.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18982.hp1 NA18999.hp1 NA19004.hp1 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0025 a0001c0001t0034 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0017	a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0075 others(49): Show a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0005g0149 a0001c0001t0005g0157 a0001c0001t0005g0165 a0001c0001t0006g0151 a0001c0001t0007g0046 a0001c0001t0007g0051 a0001c0001t0011g0156 a0001c0001t0014g0195 a0001c0001t0025g0140 a0001c0001t0034g0207 a0002c0002t0002g0116 a0002c0002t0003g0023 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0101 a0002c0002t0003g0145 a0002c0002t0003g0163 a0002c0002t0007g0039 a0002c0002t0007g0043 a0002c0002t0017g0205 a0002c0002t0017g0206	52	86	0.6047	-12	c.120 others(33): Show c.1200+14370_1200+14381delGTGTGTGTGTGT		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/12						chr9	TogoVar
APBA1_chr9_69422532_69677371	69523485	ATATATAT others(5): Show ATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02897.hp2 HG03041.hp1 others(2): Show HG02451.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0015 a0002c0002t0002 others(1): Show a0001c0001t0006 a0001c0001t0015 a0002c0002t0002 a0002c0002t0009	a0001c0001t0006g0093 a0001c0001t0015g0053 a0002c0002t0002g0022 others(2): Show a0001c0001t0006g0093 a0001c0001t0015g0053 a0002c0002t0002g0022 a0002c0002t0009g0004 a0002c0002t0009g0005	5	208	0.0240	-12	c.-69 others(29): Show c.-69-6218_-69-6207delCATATATATATA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA1_chr9_69422532_69677371	69569448	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02451.hp1 HG02451.hp2 others(3): Show HG01361.hp1 HG02451.hp1 HG02451.hp2 HG02897.hp2 HG03017.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0002c0002t0002 a0002c0002t0003	a0001c0001t0006g0132 a0001c0001t0007g0051 a0001c0001t0015g0024 others(3): Show a0001c0001t0006g0132 a0001c0001t0007g0051 a0001c0001t0015g0024 a0001c0001t0015g0053 a0002c0002t0002g0022 a0002c0002t0003g0139	6	15	0.4000	-12	c.-69 others(31): Show c.-69-52181_-69-52170delACACACACACAC		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA1_chr9_69422532_69677371	69606479	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02451.hp1 HG02897.hp2 others(1): Show HG01074.hp1 HG02451.hp1 HG02897.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0015 a0002c0002t0002 a0001c0001t0001 a0001c0001t0015 a0002c0002t0002	a0001c0001t0001g0059 a0001c0001t0015g0024 a0001c0001t0015g0053 others(1): Show a0001c0001t0001g0059 a0001c0001t0015g0024 a0001c0001t0015g0053 a0002c0002t0002g0022	4	65	0.0615	-12	c.-70 others(31): Show c.-70+65662_-70+65673delAAAAAAAAAAAA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA1_chr9_69422532_69677371	69636820	AGAGAGAG others(5): Show AGAGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02257.hp1 others(5): Show HG01496.hp1 HG02055.hp1 HG02257.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 others(5): Show a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0078 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0005g0056 a0001c0001t0006g0093	8	205	0.0390	-12	c.-70 others(31): Show c.-70+35321_-70+35332delCCTCTCTCTCTC		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA1_chr9_69422532_69677371	69636824	AGAGAGAG others(5): Show AGAGAGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02040.hp2 HG02056.hp2 others(5): Show HG01361.hp1 HG02040.hp2 HG02056.hp2 HG02155.hp2 HG02258.hp1 NA18522.hp2 NA18953.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0003 a0001c0001t0001 a0001c0001t0007 a0002c0002t0003	a0001c0001t0001g0020 a0001c0001t0001g0190 a0001c0001t0001g0191 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0007g0046 a0002c0002t0003g0139 a0002c0002t0003g0160 a0002c0002t0003g0183 a0002c0002t0003g0184	8	193	0.0415	-12	c.-70 others(31): Show c.-70+35317_-70+35328delCCTCCCTCTCTC		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA1_chr9_69422532_69677371	69636918	GGAAGGAA others(5): Show GGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0067 a0002c0002t0030g0067	1	193	0.0052	-12	c.-70 others(31): Show c.-70+35223_-70+35234delTTTCTTTCCTTC		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12						chr9	TogoVar
APBA2_chr15_28880974_29123315	28940356	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02717.hp1 others(5): Show HG02258.hp1 HG02572.hp1 HG02717.hp1 HG02895.hp1 HG02976.hp1 NA18956.hp1 NA19002.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0029 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0029 a0002c0002t0006 a0002c0002t0008 a0002c0002t0012 a0002c0004t0009	a0001c0001t0004g0065 a0001c0001t0005g0077 a0001c0001t0029g0046 others(5): Show a0001c0001t0004g0065 a0001c0001t0005g0077 a0001c0001t0029g0046 a0002c0002t0006g0178 a0002c0002t0008g0192 a0002c0002t0008g0198 a0002c0002t0012g0187 a0002c0004t0009g0106	8	56	0.1429	-12	c.-95 others(31): Show c.-95+18627_-95+18638delAAAAAAAAAAAA		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28969128	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	10	0.1000	-12	c.-94 others(31): Show c.-94-26581_-94-26570delCTTTCTTTCTTT		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29039098	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp2 HG02622.hp1 others(11): Show HG01496.hp1 HG02145.hp2 HG02622.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03195.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18964.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0003 a0005c0010	a0001c0001t0003 a0001c0001t0030 a0001c0007t0004 others(8): Show a0001c0001t0003 a0001c0001t0030 a0001c0007t0004 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0011 a0002c0002t0023 a0002c0002t0032 a0002c0003t0013 a0005c0010t0037	a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0030g0064 others(11): Show a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0030g0064 a0001c0007t0004g0043 a0001c0007t0004g0044 a0002c0002t0003g0174 a0002c0002t0004g0042 a0002c0002t0004g0089 a0002c0002t0006g0003 a0002c0002t0011g0123 a0002c0002t0023g0028 a0002c0002t0032g0082 a0002c0003t0013g0029 a0005c0010t0037g0175	14	29	0.4828	-12	c.-40 others(31): Show c.-40-14700_-40-14689delGTGTGTGTGTGT		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26445128	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(34): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00735.hp2 HG01071.hp2 HG01433.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03471.hp1 HG03486.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18943.hp1 NA18953.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA19000.hp1 NA19007.hp1 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp2 NA19080.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0004c0013 others(1): Show a0001c0001 a0002c0002 a0004c0013 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0002 a0004c0013t0002 a0008c0009t0001	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0071 others(34): Show a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0002g0249 a0001c0001t0002g0254 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0267 a0001c0001t0002g0276 a0001c0001t0002g0281 a0001c0001t0002g0293 a0001c0001t0002g0300 a0001c0001t0002g0320 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0351 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0003g0268 a0001c0001t0005g0090 a0001c0001t0008g0336 a0002c0002t0002g0266 a0004c0013t0002g0296 a0008c0009t0001g0101	37	212	0.1745	-12	c.-1+ others(27): Show c.-1+6331_-1+6342delGAAAGAAAGAAA		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26481826	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03209.hp1 HG00735.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0269 a0001c0001t0003g0268 a0001c0001t0002g0269 a0001c0001t0003g0268	2	106	0.0189	-12	c.1-1 others(27): Show c.1-10470_1-10459delGTGTGTGTGTGT		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26510732	TCTCACAC others(5): Show TCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03490.hp1 HG02735.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0236 a0001c0001t0002g0253 a0001c0001t0001g0236 a0001c0001t0002g0253	2	339	0.0059	-12	c.532 others(29): Show c.532-1013_532-1002delTCACACACACAC		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26510734	TCACACAC others(5): Show TCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04115.hp2 HG03704.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0017 a0001c0001t0001g0053	2	181	0.0110	-12	c.532 others(27): Show c.532-982_532-971delCACACACACACA		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26550368	TCTTTAAA others(5): Show TCTTTAAAGTTAG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	356	0.0028	-12	c.115 others(31): Show c.1155+8677_1155+8688delCTTTAAAGTTAG		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	11/14						chr10	TogoVar
APBB1_chr11_6390125_6424094	6390700	CCTGGTGC others(5): Show CCTGGTGCTGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(20): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00609.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02886.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18979.hp1 NA18982.hp1 NA19006.hp2 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0188 a0001c0001t0001g0215 a0001c0001t0001g0238 a0001c0001t0001g0253 a0001c0001t0002g0055 a0001c0006t0001g0058 a0001c0006t0001g0124	23	406	0.0567	-12	c.48 others(23): Show c.4822_*4833delCGCCAGCACCAG		APBB1	ENSG00000166313.20	transcript	ENST00000609360.6	protein_coding					4424		chr11	TogoVar
APBB2_chr4_40805027_41219542	40838136	CATTATTA others(5): Show CATTATTATTATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00597.hp1 others(23): Show HG00140.hp2 HG00280.hp2 HG00597.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01516.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA18747.hp1 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 others(15): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0003t0003 a0001c0003t0010 a0001c0003t0035 a0001c0004t0003 a0001c0004t0019 a0001c0004t0020 a0001c0004t0052 a0002c0001t0003 a0002c0001t0006 a0002c0001t0008 a0002c0001t0010 a0002c0001t0050 a0002c0005t0005 a0002c0005t0006 a0002c0005t0028	a0001c0002t0002g0098 a0001c0002t0003g0033 a0001c0002t0003g0034 others(23): Show a0001c0002t0002g0098 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0174 a0001c0002t0003g0183 a0001c0002t0010g0006 a0001c0003t0003g0136 a0001c0003t0003g0138 a0001c0003t0010g0007 a0001c0003t0035g0026 a0001c0004t0003g0044 a0001c0004t0019g0073 a0001c0004t0020g0036 a0001c0004t0052g0093 a0002c0001t0003g0027 a0002c0001t0003g0049 a0002c0001t0003g0151 a0002c0001t0006g0115 a0002c0001t0006g0146 a0002c0001t0006g0168 a0002c0001t0008g0156 a0002c0001t0010g0025 a0002c0001t0050g0188 a0002c0005t0005g0076 a0002c0005t0006g0187 a0002c0005t0028g0012	26	88	0.2955	-12	c.153 others(31): Show c.1530-7571_1530-7560delAATAATAATAAT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40846015	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG01099.hp2 others(46): Show HG00544.hp1 HG00733.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01891.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG04204.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18970.hp1 NA18993.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0005 a0002c0009	a0001c0002t0001 a0001c0003t0001 a0001c0003t0014 others(20): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0014 a0001c0003t0026 a0001c0004t0001 a0001c0004t0002 a0001c0004t0021 a0001c0004t0051 a0002c0001t0001 a0002c0001t0009 a0002c0001t0014 a0002c0001t0022 a0002c0001t0024 a0002c0001t0027 a0002c0001t0036 a0002c0001t0040 a0002c0001t0042 a0002c0001t0054 a0002c0001t0057 a0002c0001t0060 a0002c0005t0001 a0002c0005t0041 a0002c0009t0059	a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0070 others(46): Show a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0101 a0001c0002t0001g0110 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0003t0001g0043 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0069 a0001c0003t0001g0106 a0001c0003t0001g0159 a0001c0003t0001g0164 a0001c0003t0014g0068 a0001c0003t0026g0019 a0001c0004t0001g0121 a0001c0004t0001g0181 a0001c0004t0002g0116 a0001c0004t0021g0092 a0001c0004t0051g0141 a0002c0001t0001g0065 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0107 a0002c0001t0001g0117 a0002c0001t0001g0125 a0002c0001t0001g0135 a0002c0001t0001g0148 a0002c0001t0001g0166 a0002c0001t0009g0186 a0002c0001t0014g0063 a0002c0001t0014g0128 a0002c0001t0022g0091 a0002c0001t0024g0013 a0002c0001t0027g0018 a0002c0001t0036g0113 a0002c0001t0040g0145 a0002c0001t0042g0030 a0002c0001t0054g0066 a0002c0001t0057g0074 a0002c0001t0060g0158 a0002c0005t0001g0100 a0002c0005t0001g0142 a0002c0005t0001g0155 a0002c0005t0041g0124 a0002c0009t0059g0182	49	57	0.8596	-12	c.153 others(33): Show c.1530-15450_1530-15439delACACACACACAC		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17						chr4	TogoVar
APBB2_chr4_40805027_41219542	40858454	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0004 a0001c0002t0034g0004	1	65	0.0154	-12	c.153 others(33): Show c.1530-27889_1530-27878delTTTTTTTTTTTT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17						chr4	TogoVar

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