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
ABAT_chr16_8669617_8789570	8772252	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02698.hp1 HG01106.hp2 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0032 a0001c0001t0001 a0002c0002t0032	a0001c0001t0001g0101 a0002c0002t0032g0149 a0001c0001t0001g0101 a0002c0002t0032g0149	2	17	0.1176	-10	c.817 others(25): Show c.817-485_817-476delTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773105	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0287 a0001c0001t0040g0287	1	28	0.0357	-10	c.954 others(25): Show c.954+222_954+231delCACACACACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8773139	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	358	0.0028	-10	c.954 others(25): Show c.954+224_954+233delCACACACATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69184916	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA21309.hp1 HG02723.hp1 NA21309.hp1	a0003 a0026 a0003 a0026	a0003c0003 a0026c0023 a0003c0003 a0026c0023	a0003c0003t0001 a0026c0023t0001 a0003c0003t0001 a0026c0023t0001	a0003c0003t0001g0130 a0026c0023t0001g0212 a0003c0003t0001g0130 a0026c0023t0001g0212	2	215	0.0093	-10	c.249 others(27): Show c.2497+551_2497+560delGTGTGTGTGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	20/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211314	GATATATA others(3): Show GATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02015.hp1 HG03098.hp2 others(1): Show HG01975.hp2 HG02015.hp1 HG03098.hp2 NA18974.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0006 a0008c0009 a0001c0001 a0004c0006 a0008c0009	a0001c0001t0002 a0004c0006t0003 a0008c0009t0009 a0001c0001t0002 a0004c0006t0003 a0008c0009t0009	a0001c0001t0002g0284 a0001c0001t0002g0296 a0004c0006t0003g0268 others(1): Show a0001c0001t0002g0284 a0001c0001t0002g0296 a0004c0006t0003g0268 a0008c0009t0009g0246	4	246	0.0163	-10	c.100 others(29): Show c.1006+3380_1006+3389delATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211352	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0225 a0001c0001t0006g0225	1	346	0.0029	-10	c.100 others(29): Show c.1006+3342_1006+3351delGTATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214950382	ATCTGTGT others(3): Show ATCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01884.hp1 HG01891.hp1	a0001 a0003 a0001 a0003	a0001c0042 a0003c0066 a0001c0042 a0003c0066	a0001c0042t0013 a0003c0066t0004 a0001c0042t0013 a0003c0066t0004	a0001c0042t0013g0045 a0003c0066t0004g0103 a0001c0042t0013g0045 a0003c0066t0004g0103	2	140	0.0143	-10	c.685 others(27): Show c.6852+487_6852+496delCACACACAGA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214950384	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp1 HG01978.hp1 others(23): Show HG00735.hp2 HG01255.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03710.hp2 HG06807.hp1 NA18906.hp1 NA18951.hp1 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA19007.hp2 NA19070.hp1 NA19088.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0019	a0001c0009 a0001c0010 a0001c0021 others(12): Show a0001c0009 a0001c0010 a0001c0021 a0001c0023 a0001c0025 a0001c0040 a0001c0041 a0001c0044 a0001c0068 a0002c0007 a0002c0013 a0002c0054 a0004c0018 a0004c0061 a0019c0038	a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 others(18): Show a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0010t0003 a0001c0010t0004 a0001c0021t0003 a0001c0023t0003 a0001c0025t0003 a0001c0025t0015 a0001c0040t0008 a0001c0041t0003 a0001c0044t0006 a0001c0068t0003 a0002c0007t0003 a0002c0007t0004 a0002c0013t0003 a0002c0013t0008 a0002c0054t0009 a0004c0018t0008 a0004c0061t0015 a0019c0038t0008	a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 others(23): Show a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0010t0003g0143 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0021t0003g0174 a0001c0023t0003g0024 a0001c0023t0003g0153 a0001c0025t0003g0065 a0001c0025t0015g0182 a0001c0040t0008g0186 a0001c0041t0003g0164 a0001c0044t0006g0022 a0001c0068t0003g0016 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0054t0009g0004 a0004c0018t0008g0196 a0004c0061t0015g0181 a0019c0038t0008g0195	26	103	0.2524	-10	c.685 others(27): Show c.6852+485_6852+494delCACACACACA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214950412	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0003 a0008c0026t0003	a0008c0026t0003g0053 a0008c0026t0003g0056 a0008c0026t0003g0053 a0008c0026t0003g0056	2	196	0.0102	-10	c.685 others(27): Show c.6852+457_6852+466delTACACACACA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	45/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214977329	TAAAAGTC others(3): Show TAAAAGTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	196	0.0051	-10	c.512 others(27): Show c.5128+977_5128+986delGAGGACTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	33/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215016582	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01891.hp1 HG02257.hp1 others(10): Show HG00423.hp2 HG01891.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02818.hp1 HG03225.hp1 NA18522.hp2 NA18906.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0014 others(4): Show a0001c0003 a0001c0004 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067	a0001c0003t0001 a0001c0004t0001 a0003c0014t0002 others(7): Show a0001c0003t0001 a0001c0004t0001 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025	a0001c0003t0001g0038 a0001c0003t0001g0147 a0001c0003t0001g0159 others(10): Show a0001c0003t0001g0038 a0001c0003t0001g0147 a0001c0003t0001g0159 a0001c0004t0001g0026 a0003c0014t0002g0101 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0104 a0003c0066t0004g0103 a0003c0067t0025g0183	13	31	0.4194	-10	c.178 others(27): Show c.1783-929_1783-920delTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215064688	TACACGCA others(3): Show TACACGCACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03516.hp2 HG02809.hp1 HG03516.hp2	a0004 a0004	a0004c0018 a0004c0059 a0004c0018 a0004c0059	a0004c0018t0005 a0004c0059t0004 a0004c0018t0005 a0004c0059t0004	a0004c0018t0005g0095 a0004c0059t0004g0071 a0004c0018t0005g0095 a0004c0059t0004g0071	2	182	0.0110	-10	c.164 others(25): Show c.164-479_164-470delGTGTGCGTGT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215064693	GCACACAC others(3): Show GCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00735.hp1 others(49): Show HG00423.hp2 HG00438.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp2 NA18951.hp1 NA18984.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19060.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0011 a0015	a0001c0003 a0001c0004 a0001c0006 others(20): Show a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0001c0021 a0001c0022 a0001c0031 a0001c0032 a0001c0033 a0001c0035 a0001c0041 a0002c0007 a0002c0008 a0002c0013 a0002c0017 a0002c0054 a0002c0056 a0002c0058 a0005c0034 a0008c0026 a0011c0036 a0015c0055	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(30): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011 a0001c0004t0001 a0001c0006t0002 a0001c0006t0005 a0001c0009t0003 a0001c0010t0002 a0001c0010t0004 a0001c0010t0009 a0001c0021t0003 a0001c0021t0010 a0001c0022t0019 a0001c0031t0005 a0001c0032t0006 a0001c0033t0026 a0001c0035t0002 a0001c0041t0003 a0002c0007t0003 a0002c0007t0004 a0002c0007t0017 a0002c0008t0007 a0002c0013t0003 a0002c0013t0008 a0002c0017t0009 a0002c0054t0009 a0002c0056t0004 a0002c0058t0002 a0005c0034t0005 a0008c0026t0003 a0011c0036t0001 a0015c0055t0010	a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0036 others(49): Show a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0043 a0001c0003t0001g0121 a0001c0003t0001g0133 a0001c0003t0001g0147 a0001c0003t0001g0159 a0001c0003t0001g0166 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0002g0037 a0001c0003t0006g0048 a0001c0003t0011g0118 a0001c0003t0011g0139 a0001c0004t0001g0040 a0001c0006t0002g0123 a0001c0006t0002g0135 a0001c0006t0002g0142 a0001c0006t0002g0171 a0001c0006t0005g0152 a0001c0009t0003g0157 a0001c0010t0002g0168 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0010t0009g0001 a0001c0021t0003g0174 a0001c0021t0010g0194 a0001c0022t0019g0014 a0001c0031t0005g0158 a0001c0032t0006g0042 a0001c0033t0026g0193 a0001c0035t0002g0144 a0001c0041t0003g0164 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0007t0017g0012 a0002c0008t0007g0010 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0017t0009g0007 a0002c0054t0009g0004 a0002c0056t0004g0020 a0002c0058t0002g0072 a0005c0034t0005g0169 a0008c0026t0003g0053 a0008c0026t0003g0056 a0011c0036t0001g0084 a0015c0055t0010g0184	52	118	0.4407	-10	c.164 others(25): Show c.164-484_164-475delTGTGTGTGTG	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215071196	CAAATAAA others(3): Show CAAATAAAATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG01243.hp2 others(14): Show HG00735.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01943.hp1 HG02004.hp1 HG02109.hp1 HG02293.hp1 NA18962.hp2 NA18971.hp1 NA18981.hp1 NA18984.hp2 NA19007.hp2 NA19070.hp1 NA20905.hp1	a0001 a0005 a0012 others(2): Show a0001 a0005 a0012 a0013 a0019	a0001c0002 a0001c0009 a0001c0011 others(8): Show a0001c0002 a0001c0009 a0001c0011 a0001c0016 a0001c0033 a0001c0035 a0001c0040 a0005c0024 a0012c0039 a0013c0030 a0019c0038	a0001c0002t0022 a0001c0009t0001 a0001c0009t0008 others(10): Show a0001c0002t0022 a0001c0009t0001 a0001c0009t0008 a0001c0009t0010 a0001c0011t0001 a0001c0016t0002 a0001c0033t0026 a0001c0035t0002 a0001c0040t0008 a0005c0024t0005 a0012c0039t0012 a0013c0030t0001 a0019c0038t0008	a0001c0002t0022g0148 a0001c0009t0001g0136 a0001c0009t0008g0188 others(14): Show a0001c0002t0022g0148 a0001c0009t0001g0136 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0033t0026g0193 a0001c0035t0002g0144 a0001c0040t0008g0186 a0005c0024t0005g0093 a0005c0024t0005g0094 a0012c0039t0012g0185 a0013c0030t0001g0047 a0019c0038t0008g0195	17	54	0.3148	-10	c.164 others(27): Show c.164-6987_164-6978delTATTTTATTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	2/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215112487	TTTTTTTT others(3): Show TTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0012 a0012	a0012c0039 a0012c0039	a0012c0039t0012 a0012c0039t0012	a0012c0039t0012g0185 a0012c0039t0012g0185	1	185	0.0054	-10	c.70- others(23): Show c.70-807_70-798delCAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215133149	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp2 HG01243.hp1 others(26): Show HG00140.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009	a0001c0004 a0001c0005 a0001c0011 others(17): Show a0001c0004 a0001c0005 a0001c0011 a0001c0012 a0001c0016 a0002c0007 a0002c0027 a0002c0057 a0002c0058 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0004c0018 a0004c0059 a0004c0060 a0005c0024 a0006c0064 a0007c0019 a0009c0028	a0001c0004t0001 a0001c0005t0005 a0001c0011t0001 others(20): Show a0001c0004t0001 a0001c0005t0005 a0001c0011t0001 a0001c0011t0005 a0001c0012t0014 a0001c0016t0002 a0002c0007t0002 a0002c0027t0003 a0002c0057t0006 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0065t0001 a0003c0066t0004 a0004c0018t0005 a0004c0018t0021 a0004c0059t0004 a0004c0060t0006 a0005c0024t0005 a0006c0064t0004 a0007c0019t0001 a0009c0028t0003	a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0005g0109 others(26): Show a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0011t0001g0087 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0012t0014g0097 a0001c0016t0002g0086 a0001c0016t0002g0090 a0002c0007t0002g0105 a0002c0027t0003g0073 a0002c0057t0006g0177 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0020t0001g0106 a0003c0065t0001g0104 a0003c0066t0004g0103 a0004c0018t0005g0095 a0004c0018t0021g0082 a0004c0059t0004g0071 a0004c0060t0006g0080 a0005c0024t0005g0094 a0006c0064t0004g0070 a0007c0019t0001g0100 a0009c0028t0003g0081 a0009c0028t0003g0083	29	58	0.5000	-10	c.69+ others(25): Show c.69+4981_69+4990delAAAAAAAAAA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215134577	ATCTCTCT others(3): Show ATCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0008 a0004c0018t0008	a0004c0018t0008g0196 a0004c0018t0008g0196	1	169	0.0059	-10	c.69+ others(25): Show c.69+3553_69+3562delGAGAGAGAGA	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48219883	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA19083.hp2 HG03492.hp1 NA19083.hp2	a0029 a0071 a0029 a0071	a0029c0097 a0071c0084 a0029c0097 a0071c0084	a0029c0097t0001 a0071c0084t0002 a0029c0097t0001 a0071c0084t0002	a0029c0097t0001g0084 a0071c0084t0002g0077 a0029c0097t0001g0084 a0071c0084t0002g0077	2	35	0.0571	-10	c.439 others(25): Show c.439+420_439+429delCACACACACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358222	AAGGGGAG others(3): Show AAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01192.hp1 others(8): Show HG00741.hp2 HG01070.hp1 HG01192.hp1 HG06807.hp2 NA18956.hp1 NA18971.hp2 NA18979.hp1 NA18986.hp2 NA18992.hp2 NA19062.hp1 NA19074.hp1	a0001 a0005 a0007 others(5): Show a0001 a0005 a0007 a0009 a0017 a0075 a0081 a0084	a0001c0001 a0005c0023 a0007c0011 others(5): Show a0001c0001 a0005c0023 a0007c0011 a0009c0046 a0017c0095 a0075c0048 a0081c0113 a0084c0058	a0001c0001t0001 a0005c0023t0003 a0007c0011t0003 others(5): Show a0001c0001t0001 a0005c0023t0003 a0007c0011t0003 a0009c0046t0002 a0017c0095t0002 a0075c0048t0004 a0081c0113t0003 a0084c0058t0001	a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0064 others(8): Show a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0064 a0005c0023t0003g0171 a0007c0011t0003g0055 a0007c0011t0003g0130 a0009c0046t0002g0090 a0017c0095t0002g0043 a0075c0048t0004g0159 a0081c0113t0003g0097 a0084c0058t0001g0092	11	108	0.1019	-10	c.106 others(31): Show c.10688+5772_10688+5781delGGGGAGGGGA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358259	GGGGAGGG others(3): Show GGGGAGGGGAC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19030.hp1 HG01123.hp2 NA19030.hp1	a0007 a0018 a0007 a0018	a0007c0102 a0018c0026 a0007c0102 a0018c0026	a0007c0102t0001 a0018c0026t0001 a0007c0102t0001 a0018c0026t0001	a0007c0102t0001g0020 a0018c0026t0001g0057 a0007c0102t0001g0020 a0018c0026t0001g0057	2	176	0.0114	-10	c.106 others(31): Show c.10688+5773_10688+5782delGGGAGGGGAC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48368706	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02109.hp2 HG03098.hp1 others(2): Show HG01516.hp1 HG02109.hp2 HG03098.hp1 HG03492.hp2 NA18971.hp1	a0003 a0008 a0010 others(2): Show a0003 a0008 a0010 a0043 a0065	a0003c0004 a0008c0013 a0010c0045 others(2): Show a0003c0004 a0008c0013 a0010c0045 a0043c0039 a0065c0056	a0003c0004t0001 a0008c0013t0001 a0010c0045t0002 others(2): Show a0003c0004t0001 a0008c0013t0001 a0010c0045t0002 a0043c0039t0001 a0065c0056t0002	a0003c0004t0001g0033 a0008c0013t0001g0110 a0010c0045t0002g0076 others(2): Show a0003c0004t0001g0033 a0008c0013t0001g0110 a0010c0045t0002g0076 a0043c0039t0001g0003 a0065c0056t0002g0018	5	176	0.0284	-10	c.108 others(29): Show c.10803+800_10803+809delTATATATACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	32/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411039	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp1 HG03471.hp1 others(1): Show HG01167.hp2 HG03195.hp1 HG03471.hp1 NA18942.hp2	a0007 a0014 a0019 others(1): Show a0007 a0014 a0019 a0066	a0007c0101 a0014c0025 a0019c0109 others(1): Show a0007c0101 a0014c0025 a0019c0109 a0066c0071	a0007c0101t0003 a0014c0025t0003 a0019c0109t0001 others(1): Show a0007c0101t0003 a0014c0025t0003 a0019c0109t0001 a0066c0071t0005	a0007c0101t0003g0141 a0014c0025t0003g0024 a0019c0109t0001g0120 others(1): Show a0007c0101t0003g0141 a0014c0025t0003g0024 a0019c0109t0001g0120 a0066c0071t0005g0105	4	176	0.0227	-10	c.122 others(29): Show c.12228+374_12228+383delTTCTTTCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48411120	CTCCTTTC others(3): Show CTCCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0034 a0034	a0034c0093 a0034c0093	a0034c0093t0002 a0034c0093t0002	a0034c0093t0002g0150 a0034c0093t0002g0150	1	161	0.0062	-10	c.122 others(29): Show c.12228+460_12228+469delCCTTTCCTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48422055	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp1 HG01192.hp1 others(45): Show HG00558.hp2 HG00738.hp1 HG01192.hp1 HG01433.hp1 HG01516.hp2 HG01975.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp2 NA18906.hp2 NA18942.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA19010.hp2 NA19030.hp2 NA19074.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1	a0002 a0005 a0006 others(32): Show a0002 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0014 a0020 a0022 a0023 a0024 a0025 a0028 a0036 a0044 a0046 a0048 a0049 a0051 a0054 a0056 a0060 a0061 a0062 a0064 a0066 a0070 a0071 a0072 a0073 a0077 a0081 a0085	a0002c0002 a0005c0007 a0005c0023 others(35): Show a0002c0002 a0005c0007 a0005c0023 a0006c0005 a0007c0011 a0007c0101 a0008c0032 a0009c0017 a0009c0044 a0011c0033 a0013c0006 a0014c0025 a0020c0020 a0022c0030 a0023c0015 a0024c0014 a0025c0089 a0028c0028 a0036c0081 a0044c0114 a0046c0067 a0048c0090 a0049c0082 a0051c0073 a0054c0038 a0056c0035 a0060c0111 a0061c0098 a0062c0088 a0064c0105 a0066c0071 a0070c0055 a0071c0084 a0072c0074 a0073c0078 a0077c0083 a0081c0113 a0085c0070	a0002c0002t0004 a0005c0007t0003 a0005c0023t0003 others(36): Show a0002c0002t0004 a0005c0007t0003 a0005c0023t0003 a0006c0005t0003 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0008c0032t0001 a0009c0017t0003 a0009c0044t0001 a0011c0033t0003 a0013c0006t0001 a0014c0025t0003 a0020c0020t0001 a0022c0030t0003 a0023c0015t0004 a0024c0014t0005 a0025c0089t0012 a0028c0028t0003 a0036c0081t0001 a0044c0114t0004 a0046c0067t0009 a0048c0090t0005 a0049c0082t0005 a0051c0073t0005 a0054c0038t0005 a0056c0035t0002 a0060c0111t0006 a0061c0098t0001 a0062c0088t0005 a0064c0105t0005 a0066c0071t0005 a0070c0055t0003 a0071c0084t0002 a0072c0074t0001 a0073c0078t0003 a0077c0083t0003 a0081c0113t0003 a0085c0070t0003	a0002c0002t0004g0106 a0005c0007t0003g0121 a0005c0023t0003g0171 others(45): Show a0002c0002t0004g0106 a0005c0007t0003g0121 a0005c0023t0003g0171 a0006c0005t0003g0087 a0006c0005t0003g0093 a0006c0005t0003g0094 a0006c0005t0003g0132 a0007c0011t0003g0055 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0141 a0008c0032t0001g0080 a0009c0017t0003g0068 a0009c0044t0001g0100 a0011c0033t0003g0060 a0011c0033t0003g0072 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0014c0025t0003g0024 a0014c0025t0003g0025 a0020c0020t0001g0007 a0022c0030t0003g0038 a0022c0030t0003g0069 a0023c0015t0004g0173 a0024c0014t0005g0119 a0025c0089t0012g0154 a0028c0028t0003g0005 a0036c0081t0001g0149 a0044c0114t0004g0065 a0046c0067t0009g0144 a0048c0090t0005g0104 a0049c0082t0005g0139 a0051c0073t0005g0051 a0054c0038t0005g0135 a0056c0035t0002g0157 a0060c0111t0006g0031 a0061c0098t0001g0070 a0062c0088t0005g0152 a0064c0105t0005g0037 a0066c0071t0005g0105 a0070c0055t0003g0125 a0071c0084t0002g0077 a0072c0074t0001g0022 a0073c0078t0003g0169 a0077c0083t0003g0140 a0081c0113t0003g0097 a0085c0070t0003g0014	48	65	0.7385	-10	c.124 others(31): Show c.12460-5691_12460-5682delAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	41/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48497752	AAGTGAGT others(3): Show AAGTGAGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01070.hp2 others(35): Show HG00408.hp1 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01169.hp1 HG01516.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp2 HG02132.hp2 HG02258.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18971.hp1 NA18987.hp1 NA18998.hp2 NA19007.hp2 NA19030.hp2 NA19060.hp1 NA19091.hp2	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0007 a0008 a0012 a0016 a0021 a0025 a0031 a0037 a0039 a0040 a0044 a0045 a0046 a0050 a0052 a0056 a0057 a0061 a0063 a0065 a0067 a0069 a0074 a0075 a0076 a0083	a0001c0001 a0002c0002 a0002c0022 others(30): Show a0001c0001 a0002c0002 a0002c0022 a0003c0003 a0003c0004 a0004c0008 a0007c0011 a0008c0013 a0008c0032 a0012c0012 a0016c0029 a0021c0018 a0025c0085 a0031c0061 a0037c0042 a0039c0092 a0040c0064 a0044c0114 a0045c0041 a0046c0067 a0050c0080 a0052c0106 a0056c0035 a0057c0054 a0061c0098 a0063c0087 a0065c0056 a0067c0053 a0069c0086 a0074c0036 a0075c0048 a0076c0110 a0083c0050	a0001c0001t0004 a0002c0002t0004 a0002c0022t0004 others(30): Show a0001c0001t0004 a0002c0002t0004 a0002c0022t0004 a0003c0003t0004 a0003c0004t0004 a0004c0008t0004 a0007c0011t0007 a0008c0013t0001 a0008c0032t0001 a0012c0012t0002 a0016c0029t0004 a0021c0018t0004 a0025c0085t0004 a0031c0061t0004 a0037c0042t0004 a0039c0092t0004 a0040c0064t0001 a0044c0114t0004 a0045c0041t0004 a0046c0067t0009 a0050c0080t0013 a0052c0106t0005 a0056c0035t0002 a0057c0054t0002 a0061c0098t0001 a0063c0087t0002 a0065c0056t0002 a0067c0053t0004 a0069c0086t0009 a0074c0036t0007 a0075c0048t0004 a0076c0110t0007 a0083c0050t0004	a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(35): Show a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 a0002c0022t0004g0163 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0004g0030 a0004c0008t0004g0166 a0007c0011t0007g0165 a0008c0013t0001g0110 a0008c0032t0001g0080 a0012c0012t0002g0056 a0012c0012t0002g0098 a0016c0029t0004g0071 a0021c0018t0004g0095 a0025c0085t0004g0008 a0031c0061t0004g0013 a0037c0042t0004g0074 a0039c0092t0004g0099 a0040c0064t0001g0127 a0044c0114t0004g0065 a0045c0041t0004g0039 a0046c0067t0009g0144 a0050c0080t0013g0158 a0052c0106t0005g0006 a0056c0035t0002g0157 a0057c0054t0002g0015 a0061c0098t0001g0070 a0063c0087t0002g0153 a0065c0056t0002g0018 a0067c0053t0004g0122 a0069c0086t0009g0160 a0074c0036t0007g0083 a0075c0048t0004g0159 a0076c0110t0007g0126 a0083c0050t0004g0103	38	176	0.2159	-10	c.132 others(31): Show c.13291+8409_13291+8418delAGTGAGTGGG	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	48/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48525670	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show HG02280.hp1 HG02886.hp1 HG03486.hp1 HG06807.hp1 NA18906.hp1	a0007 a0046 a0069 others(2): Show a0007 a0046 a0069 a0074 a0076	a0007c0011 a0046c0067 a0069c0086 others(2): Show a0007c0011 a0046c0067 a0069c0086 a0074c0036 a0076c0110	a0007c0011t0007 a0046c0067t0009 a0069c0086t0009 others(2): Show a0007c0011t0007 a0046c0067t0009 a0069c0086t0009 a0074c0036t0007 a0076c0110t0007	a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 others(2): Show a0007c0011t0007g0165 a0046c0067t0009g0144 a0069c0086t0009g0160 a0074c0036t0007g0083 a0076c0110t0007g0126	5	11	0.4545	-10	c.142 others(31): Show c.14244+1244_14244+1253delTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	54/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104799394	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01169.hp1 others(22): Show HG00621.hp2 HG00673.hp2 HG01169.hp1 HG01496.hp1 HG02129.hp1 HG02155.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp2 HG04204.hp1 NA18942.hp2 NA18960.hp1 NA18962.hp2 NA18979.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp2 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19068.hp1 NA19081.hp2 NA19082.hp2 NA19091.hp2	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0007 a0008 a0015	a0002c0011 a0002c0037 a0004c0008 others(7): Show a0002c0011 a0002c0037 a0004c0008 a0005c0014 a0005c0026 a0005c0039 a0007c0003 a0007c0090 a0008c0006 a0015c0061	a0002c0011t0004 a0002c0011t0020 a0002c0037t0011 others(15): Show a0002c0011t0004 a0002c0011t0020 a0002c0037t0011 a0004c0008t0006 a0004c0008t0028 a0005c0014t0003 a0005c0026t0004 a0005c0039t0017 a0007c0003t0002 a0007c0003t0004 a0007c0003t0011 a0007c0003t0016 a0007c0003t0033 a0007c0090t0007 a0008c0006t0005 a0008c0006t0006 a0008c0006t0022 a0015c0061t0001	a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0020g0226 others(22): Show a0002c0011t0004g0177 a0002c0011t0004g0269 a0002c0011t0020g0226 a0002c0037t0011g0126 a0004c0008t0006g0257 a0004c0008t0028g0254 a0005c0014t0003g0228 a0005c0014t0003g0299 a0005c0026t0004g0039 a0005c0039t0017g0019 a0005c0039t0017g0020 a0007c0003t0002g0034 a0007c0003t0002g0035 a0007c0003t0004g0045 a0007c0003t0004g0057 a0007c0003t0004g0225 a0007c0003t0011g0073 a0007c0003t0016g0060 a0007c0003t0016g0297 a0007c0003t0033g0032 a0007c0090t0007g0043 a0008c0006t0005g0063 a0008c0006t0006g0054 a0008c0006t0022g0136 a0015c0061t0001g0081	25	36	0.6944	-10	c.494 others(27): Show c.4943+415_4943+424delTGTGTGTGTG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	36/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104810141	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02723.hp2 others(7): Show HG01891.hp2 HG02257.hp1 HG02723.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03225.hp2 HG03471.hp2 HG06807.hp2 NA19030.hp1	a0002 a0004 a0002 a0004	a0002c0015 a0002c0024 a0002c0032 others(3): Show a0002c0015 a0002c0024 a0002c0032 a0004c0008 a0004c0042 a0004c0066	a0002c0015t0002 a0002c0015t0004 a0002c0024t0008 others(4): Show a0002c0015t0002 a0002c0015t0004 a0002c0024t0008 a0002c0032t0001 a0004c0008t0003 a0004c0042t0008 a0004c0066t0008	a0002c0015t0002g0314 a0002c0015t0004g0005 a0002c0024t0008g0004 others(7): Show a0002c0015t0002g0314 a0002c0015t0004g0005 a0002c0024t0008g0004 a0002c0024t0008g0009 a0002c0024t0008g0110 a0002c0032t0001g0316 a0004c0008t0003g0213 a0004c0042t0008g0084 a0004c0042t0008g0204 a0004c0066t0008g0008	10	179	0.0559	-10	c.417 others(27): Show c.4176-587_4176-578delATATATATAT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	29/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104829943	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp2 others(57): Show HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01884.hp2 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp1 NA18747.hp2 NA18944.hp2 NA18949.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0012 a0013 a0014 a0027 a0029	a0001c0092 a0002c0015 a0002c0017 others(18): Show a0001c0092 a0002c0015 a0002c0017 a0002c0025 a0002c0037 a0002c0058 a0003c0038 a0003c0077 a0006c0004 a0006c0012 a0006c0063 a0006c0089 a0007c0003 a0007c0090 a0012c0010 a0013c0013 a0014c0023 a0014c0053 a0014c0054 a0027c0072 a0029c0073	a0001c0092t0012 a0002c0015t0013 a0002c0017t0015 others(41): Show a0001c0092t0012 a0002c0015t0013 a0002c0017t0015 a0002c0017t0026 a0002c0025t0015 a0002c0037t0001 a0002c0058t0007 a0003c0038t0005 a0003c0077t0005 a0006c0004t0002 a0006c0004t0003 a0006c0004t0004 a0006c0004t0005 a0006c0004t0006 a0006c0004t0010 a0006c0004t0011 a0006c0004t0042 a0006c0004t0045 a0006c0012t0001 a0006c0012t0002 a0006c0012t0010 a0006c0063t0003 a0006c0089t0003 a0007c0003t0002 a0007c0003t0003 a0007c0003t0004 a0007c0003t0006 a0007c0003t0009 a0007c0003t0011 a0007c0003t0014 a0007c0003t0016 a0007c0003t0020 a0007c0003t0033 a0007c0003t0035 a0007c0090t0007 a0012c0010t0005 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0053t0002 a0014c0054t0010 a0027c0072t0001 a0029c0073t0019	a0001c0092t0012g0275 a0002c0015t0013g0001 a0002c0017t0015g0104 others(56): Show a0001c0092t0012g0275 a0002c0015t0013g0001 a0002c0017t0015g0104 a0002c0017t0026g0190 a0002c0017t0026g0209 a0002c0025t0015g0197 a0002c0037t0001g0189 a0002c0058t0007g0146 a0003c0038t0005g0306 a0003c0077t0005g0311 a0006c0004t0002g0133 a0006c0004t0002g0134 a0006c0004t0003g0245 a0006c0004t0004g0068 a0006c0004t0004g0282 a0006c0004t0005g0262 a0006c0004t0006g0161 a0006c0004t0010g0165 a0006c0004t0011g0183 a0006c0004t0042g0179 a0006c0004t0045g0164 a0006c0012t0001g0091 a0006c0012t0001g0268 a0006c0012t0002g0059 a0006c0012t0002g0065 a0006c0012t0002g0143 a0006c0012t0002g0281 a0006c0012t0010g0253 a0006c0063t0003g0154 a0006c0089t0003g0235 a0007c0003t0002g0034 a0007c0003t0002g0035 a0007c0003t0003g0015 a0007c0003t0003g0284 a0007c0003t0004g0045 a0007c0003t0004g0057 a0007c0003t0004g0225 a0007c0003t0006g0048 a0007c0003t0009g0173 a0007c0003t0009g0174 a0007c0003t0011g0073 a0007c0003t0014g0027 a0007c0003t0016g0060 a0007c0003t0020g0234 a0007c0003t0033g0032 a0007c0003t0035g0061 a0007c0090t0007g0043 a0012c0010t0005g0202 a0013c0013t0002g0176 a0013c0013t0003g0120 a0013c0013t0003g0170 a0013c0013t0003g0263 a0013c0013t0025g0029 a0013c0013t0025g0030 a0014c0023t0007g0117 a0014c0053t0002g0149 a0014c0054t0010g0163 a0027c0072t0001g0310 a0029c0073t0019g0286	60	154	0.3896	-10	c.189 others(27): Show c.1893-815_1893-806delGTGTGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	14/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104888058	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp2 HG01255.hp2 HG01952.hp2	a0002 a0011 a0002 a0011	a0002c0025 a0011c0093 a0002c0025 a0011c0093	a0002c0025t0015 a0011c0093t0001 a0002c0025t0015 a0011c0093t0001	a0002c0025t0015g0197 a0011c0093t0001g0109 a0002c0025t0015g0197 a0011c0093t0001g0109	2	182	0.0110	-10	c.160 others(27): Show c.160+1034_160+1043delACACACACAC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	3/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104909607	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(73): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp2 HG01934.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp2 HG02451.hp2 HG02896.hp2 HG02965.hp1 HG03486.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18955.hp1 NA18955.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0021 a0022 a0023 a0034	a0001c0001 a0001c0005 a0001c0108 others(28): Show a0001c0001 a0001c0005 a0001c0108 a0002c0011 a0002c0033 a0003c0002 a0003c0009 a0003c0038 a0004c0008 a0004c0029 a0004c0096 a0005c0014 a0005c0070 a0006c0004 a0006c0012 a0006c0063 a0007c0003 a0008c0047 a0009c0018 a0009c0021 a0010c0007 a0011c0040 a0011c0065 a0013c0013 a0014c0023 a0014c0053 a0016c0019 a0021c0111 a0022c0088 a0023c0060 a0034c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0052 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0108t0002 a0002c0011t0007 a0002c0011t0020 a0002c0033t0032 a0003c0002t0002 a0003c0002t0003 a0003c0002t0014 a0003c0009t0003 a0003c0009t0051 a0003c0038t0003 a0004c0008t0001 a0004c0029t0005 a0004c0096t0007 a0005c0014t0003 a0005c0014t0005 a0005c0070t0001 a0006c0004t0002 a0006c0004t0004 a0006c0004t0005 a0006c0004t0006 a0006c0004t0011 a0006c0012t0002 a0006c0063t0003 a0007c0003t0004 a0007c0003t0020 a0008c0047t0002 a0009c0018t0003 a0009c0018t0004 a0009c0018t0038 a0009c0021t0004 a0010c0007t0010 a0011c0040t0029 a0011c0065t0007 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0053t0002 a0016c0019t0018 a0021c0111t0002 a0022c0088t0034 a0023c0060t0001 a0034c0045t0002	a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 others(73): Show a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0121 a0001c0001t0001g0231 a0001c0001t0001g0260 a0001c0001t0002g0075 a0001c0001t0004g0021 a0001c0001t0007g0238 a0001c0001t0052g0317 a0001c0005t0001g0047 a0001c0005t0002g0123 a0001c0005t0002g0130 a0001c0005t0002g0167 a0001c0005t0002g0247 a0001c0005t0004g0142 a0001c0108t0002g0114 a0002c0011t0007g0119 a0002c0011t0007g0159 a0002c0011t0020g0226 a0002c0033t0032g0025 a0003c0002t0002g0037 a0003c0002t0002g0041 a0003c0002t0002g0042 a0003c0002t0002g0070 a0003c0002t0002g0071 a0003c0002t0002g0127 a0003c0002t0002g0169 a0003c0002t0002g0227 a0003c0002t0002g0239 a0003c0002t0002g0261 a0003c0002t0003g0128 a0003c0002t0014g0067 a0003c0009t0003g0074 a0003c0009t0003g0140 a0003c0009t0051g0148 a0003c0038t0003g0217 a0004c0008t0001g0033 a0004c0029t0005g0024 a0004c0096t0007g0022 a0005c0014t0003g0299 a0005c0014t0005g0116 a0005c0070t0001g0315 a0006c0004t0002g0133 a0006c0004t0004g0282 a0006c0004t0005g0262 a0006c0004t0006g0161 a0006c0004t0011g0183 a0006c0012t0002g0143 a0006c0012t0002g0281 a0006c0063t0003g0154 a0007c0003t0004g0225 a0007c0003t0020g0234 a0008c0047t0002g0300 a0009c0018t0003g0166 a0009c0018t0004g0216 a0009c0018t0038g0283 a0009c0021t0004g0259 a0010c0007t0010g0141 a0011c0040t0029g0002 a0011c0065t0007g0237 a0013c0013t0002g0176 a0013c0013t0003g0120 a0013c0013t0003g0170 a0013c0013t0003g0263 a0013c0013t0025g0029 a0013c0013t0025g0030 a0014c0023t0007g0117 a0014c0053t0002g0149 a0016c0019t0018g0132 a0016c0019t0018g0138 a0021c0111t0002g0066 a0022c0088t0034g0222 a0023c0060t0001g0079 a0034c0045t0002g0298	76	162	0.4691	-10	c.-92 others(27): Show c.-92-5846_-92-5837delGTGTGTGTGT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104930323	TCCTCCCC others(3): Show TCCTCCCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(62): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02300.hp2 HG02602.hp1 HG02738.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19078.hp1 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(14): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0017 a0021 a0023 a0033	a0001c0001 a0001c0005 a0001c0035 others(22): Show a0001c0001 a0001c0005 a0001c0035 a0001c0097 a0003c0002 a0003c0009 a0004c0008 a0005c0014 a0005c0016 a0005c0026 a0006c0004 a0006c0012 a0007c0003 a0008c0006 a0008c0049 a0009c0028 a0010c0030 a0011c0040 a0013c0013 a0014c0023 a0015c0061 a0017c0080 a0021c0111 a0023c0060 a0033c0094	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0049 a0001c0005t0001 a0001c0005t0002 a0001c0005t0010 a0001c0035t0009 a0001c0097t0001 a0003c0002t0002 a0003c0002t0007 a0003c0002t0014 a0003c0002t0050 a0003c0009t0003 a0004c0008t0001 a0005c0014t0006 a0005c0016t0001 a0005c0026t0004 a0005c0026t0009 a0006c0004t0004 a0006c0012t0002 a0007c0003t0002 a0007c0003t0004 a0007c0003t0006 a0007c0003t0011 a0007c0003t0016 a0007c0003t0033 a0007c0003t0035 a0008c0006t0005 a0008c0006t0006 a0008c0006t0012 a0008c0006t0047 a0008c0049t0004 a0009c0028t0009 a0010c0030t0001 a0011c0040t0040 a0013c0013t0025 a0014c0023t0017 a0014c0023t0036 a0015c0061t0001 a0017c0080t0004 a0021c0111t0002 a0023c0060t0001 a0033c0094t0009	a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 others(62): Show a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0273 a0001c0001t0002g0075 a0001c0001t0002g0288 a0001c0001t0006g0044 a0001c0001t0006g0051 a0001c0001t0006g0055 a0001c0001t0012g0036 a0001c0001t0049g0031 a0001c0005t0001g0047 a0001c0005t0002g0028 a0001c0005t0002g0062 a0001c0005t0002g0064 a0001c0005t0010g0040 a0001c0035t0009g0072 a0001c0097t0001g0107 a0003c0002t0002g0037 a0003c0002t0002g0038 a0003c0002t0002g0041 a0003c0002t0002g0042 a0003c0002t0002g0070 a0003c0002t0002g0071 a0003c0002t0002g0227 a0003c0002t0007g0058 a0003c0002t0014g0067 a0003c0002t0050g0069 a0003c0009t0003g0074 a0004c0008t0001g0033 a0005c0014t0006g0049 a0005c0016t0001g0046 a0005c0026t0004g0039 a0005c0026t0009g0077 a0006c0004t0004g0068 a0006c0012t0002g0059 a0006c0012t0002g0065 a0007c0003t0002g0034 a0007c0003t0002g0035 a0007c0003t0004g0045 a0007c0003t0004g0057 a0007c0003t0006g0048 a0007c0003t0011g0073 a0007c0003t0016g0060 a0007c0003t0033g0032 a0007c0003t0035g0061 a0008c0006t0005g0063 a0008c0006t0006g0054 a0008c0006t0012g0082 a0008c0006t0047g0053 a0008c0049t0004g0099 a0009c0028t0009g0094 a0009c0028t0009g0095 a0010c0030t0001g0050 a0011c0040t0040g0052 a0013c0013t0025g0029 a0013c0013t0025g0030 a0014c0023t0017g0106 a0014c0023t0036g0105 a0015c0061t0001g0081 a0017c0080t0004g0108 a0021c0111t0002g0066 a0023c0060t0001g0079 a0033c0094t0009g0080	65	316	0.2057	-10	c.-24 others(21): Show c.-2491_-2482delGGAGGGGAGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding		2169		chr9	TogoVar
ABCA1_chr9_104776006_104933155	104931680	CATTTTGG others(3): Show CATTTTGGGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0052 a0005c0052	a0005c0052t0001 a0005c0052t0001	a0005c0052t0001g0195 a0005c0052t0001g0195	1	316	0.0032	-10	c.-38 others(21): Show c.-3848_-3839delCTCCCAAAAT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding		3526		chr9	TogoVar
ABCA3_chr16_2270881_2345728	2316490	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0186 a0012c0015t0001g0186	1	16	0.0625	-10	c.111 others(27): Show c.1111+783_1111+792delTTTTTTTTTT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/32			chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341353	GCCTCGGG others(3): Show GCCTCGGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(36): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0019 a0001c0026 a0007c0022 a0008c0021	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0006 a0001c0019t0002 a0001c0026t0002 a0007c0022t0002 a0008c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(36): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0002t0001g0141 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0004t0001g0223 a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0019t0002g0221 a0001c0026t0002g0208 a0007c0022t0002g0203 a0008c0021t0002g0210	39	250	0.1560	-10	c.-13 others(21): Show c.-1329_-1320delACCCCCGAGG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		626		chr16	TogoVar
ABCA3_chr16_2270881_2345728	2343706	ACCCTATC others(3): Show ACCCTATCTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	250	0.0040	-10	c.-36 others(21): Show c.-3682_-3673delATAGATAGGG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		2979		chr16	TogoVar
ABCA4_chr1_93987834_94126148	93998713	ATTTATTT others(3): Show ATTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00733.hp2 others(44): Show HG00280.hp2 HG00544.hp1 HG00733.hp2 HG01081.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA18967.hp2 NA18974.hp2 NA18997.hp2 NA18998.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0016 a0017 a0018 a0021 a0024 a0033 a0040 a0046	a0001c0003 a0001c0007 a0001c0081 others(26): Show a0001c0003 a0001c0007 a0001c0081 a0001c0108 a0002c0098 a0003c0008 a0003c0015 a0003c0057 a0003c0066 a0003c0082 a0004c0011 a0004c0035 a0005c0027 a0005c0034 a0006c0012 a0006c0054 a0006c0076 a0007c0037 a0010c0069 a0011c0079 a0016c0089 a0016c0090 a0017c0051 a0018c0017 a0021c0077 a0024c0074 a0033c0102 a0040c0056 a0046c0105	a0001c0003t0001 a0001c0007t0001 a0001c0081t0002 others(26): Show a0001c0003t0001 a0001c0007t0001 a0001c0081t0002 a0001c0108t0001 a0002c0098t0001 a0003c0008t0002 a0003c0015t0001 a0003c0057t0002 a0003c0066t0003 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0005c0027t0002 a0005c0034t0002 a0006c0012t0001 a0006c0054t0002 a0006c0076t0001 a0007c0037t0001 a0010c0069t0001 a0011c0079t0001 a0016c0089t0001 a0016c0090t0003 a0017c0051t0002 a0018c0017t0001 a0021c0077t0002 a0024c0074t0002 a0033c0102t0001 a0040c0056t0003 a0046c0105t0001	a0001c0003t0001g0239 a0001c0007t0001g0036 a0001c0007t0001g0041 others(44): Show a0001c0003t0001g0239 a0001c0007t0001g0036 a0001c0007t0001g0041 a0001c0007t0001g0066 a0001c0007t0001g0148 a0001c0007t0001g0154 a0001c0007t0001g0176 a0001c0007t0001g0275 a0001c0081t0002g0139 a0001c0108t0001g0269 a0002c0098t0001g0288 a0003c0008t0002g0040 a0003c0008t0002g0147 a0003c0008t0002g0178 a0003c0008t0002g0237 a0003c0008t0002g0261 a0003c0008t0002g0293 a0003c0015t0001g0184 a0003c0015t0001g0185 a0003c0057t0002g0133 a0003c0066t0003g0186 a0003c0082t0002g0212 a0004c0011t0002g0111 a0004c0011t0002g0123 a0004c0011t0002g0124 a0004c0035t0002g0051 a0005c0027t0002g0020 a0005c0027t0002g0078 a0005c0034t0002g0132 a0006c0012t0001g0038 a0006c0012t0001g0126 a0006c0012t0001g0174 a0006c0054t0002g0120 a0006c0076t0001g0136 a0007c0037t0001g0049 a0010c0069t0001g0274 a0011c0079t0001g0129 a0016c0089t0001g0296 a0016c0090t0003g0031 a0017c0051t0002g0010 a0018c0017t0001g0034 a0018c0017t0001g0037 a0021c0077t0002g0166 a0024c0074t0002g0246 a0033c0102t0001g0012 a0040c0056t0003g0142 a0046c0105t0001g0121	47	259	0.1815	-10	c.648 others(27): Show c.6480-613_6480-604delATAAAATAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	47/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94091579	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02965.hp1 HG03239.hp1 others(4): Show HG01175.hp2 HG02965.hp1 HG03239.hp1 HG03490.hp1 HG04204.hp1 NA19088.hp2 NA20752.hp2	a0001 a0002 a0050 a0001 a0002 a0050	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0098 a0050c0062	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0098t0001 a0050c0062t0001	a0001c0001t0001g0143 a0001c0001t0001g0254 a0001c0001t0001g0257 others(4): Show a0001c0001t0001g0143 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0003t0001g0075 a0001c0005t0001g0161 a0002c0098t0001g0288 a0050c0062t0001g0256	7	40	0.1750	-10	c.768 others(27): Show c.768+7205_768+7214delTGTGTGTGTG	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94116958	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02451.hp2 HG03704.hp1 others(2): Show HG02155.hp1 HG02451.hp2 HG03704.hp1 NA18967.hp1 NA18998.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0078 a0001c0001 a0003c0078	a0001c0001t0001 a0003c0078t0004 a0001c0001t0001 a0003c0078t0004	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0227 a0003c0078t0004g0242	5	304	0.0164	-10	c.67- others(25): Show c.67-3902_67-3893delGAAAGAAAGA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94124148	TGTTTTTT others(3): Show TGTTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG03041.hp2 HG03831.hp2 others(4): Show HG00558.hp1 HG03041.hp2 HG03831.hp2 HG04115.hp1 NA18906.hp1 NA19005.hp1 NA20905.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0046	a0001c0001 a0001c0081 a0002c0002 others(3): Show a0001c0001 a0001c0081 a0002c0002 a0002c0010 a0006c0054 a0046c0105	a0001c0001t0001 a0001c0081t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0081t0002 a0002c0002t0001 a0002c0010t0001 a0006c0054t0002 a0046c0105t0001	a0001c0001t0001g0118 a0001c0001t0001g0169 a0001c0081t0002g0139 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0169 a0001c0081t0002g0139 a0002c0002t0001g0117 a0002c0010t0001g0119 a0006c0054t0002g0120 a0046c0105t0001g0121	7	304	0.0230	-10	c.-31 others(21): Show c.-3113_-3104delCAAAAAAAAC	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding		3001		chr1	TogoVar
ABCA5_chr17_69239311_69332133	69252979	TTAGATAC others(3): Show TTAGATACATC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0175 a0002c0001t0004g0176 a0002c0001t0004g0175 a0002c0001t0004g0176	2	348	0.0057	-10	c.441 others(27): Show c.4415+584_4415+593delGATGTATCTA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	34/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69262842	CAAGAGTA others(3): Show CAAGAGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0232 a0002c0001t0002g0232	1	348	0.0029	-10	c.331 others(29): Show c.3316-1104_3316-1095delATATACTCTT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69282980	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG02922.hp2 HG01346.hp1 HG01884.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0008 a0001c0004t0026 a0001c0004t0003 a0001c0004t0008 a0001c0004t0026	a0001c0004t0003g0165 a0001c0004t0008g0166 a0001c0004t0026g0164 a0001c0004t0003g0165 a0001c0004t0008g0166 a0001c0004t0026g0164	3	197	0.0152	-10	c.239 others(27): Show c.2392+963_2392+972delAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	18/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69293863	TGTGTGTG others(3): Show TGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01884.hp1 HG02040.hp2 others(19): Show HG00140.hp1 HG01884.hp1 HG02040.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02572.hp1 HG02818.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03579.hp1 NA18906.hp1 NA18973.hp1 NA18980.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0001 a0006c0009 a0001c0002 a0002c0001 a0006c0009	a0001c0002t0001 a0002c0001t0002 a0002c0001t0004 others(2): Show a0001c0002t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0008 a0006c0009t0008	a0001c0002t0001g0133 a0002c0001t0002g0216 a0002c0001t0002g0224 others(18): Show a0001c0002t0001g0133 a0002c0001t0002g0216 a0002c0001t0002g0224 a0002c0001t0002g0229 a0002c0001t0002g0231 a0002c0001t0002g0234 a0002c0001t0002g0235 a0002c0001t0002g0237 a0002c0001t0002g0313 a0002c0001t0004g0004 a0002c0001t0004g0169 a0002c0001t0004g0170 a0002c0001t0004g0171 a0002c0001t0004g0173 a0002c0001t0004g0174 a0002c0001t0004g0189 a0002c0001t0004g0190 a0002c0001t0004g0191 a0002c0001t0008g0180 a0006c0009t0008g0162 a0006c0009t0008g0163	22	348	0.0632	-10	c.149 others(27): Show c.1495+782_1495+791delGCACACACAC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	11/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69327145	GCCGCGCG others(3): Show GCCGCGCGCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0022 a0003c0003t0003g0022	1	303	0.0033	-10	c.-11 others(19): Show c.-119_-110delGTGCGCGCGG	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding		13		chr17	TogoVar
ABCA6_chr17_69073702_69146895	69142730	ACAACTAC others(3): Show ACAACTACAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG03471.hp1 HG02055.hp1 HG02280.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0169 a0002c0002t0001g0025 a0002c0002t0001g0169	3	324	0.0093	-10	c.-10 others(21): Show c.-1041_-1032delGCTGTAGTTG	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		836		chr17	TogoVar
ABCA8_chr17_68862289_68960392	68911494	TGGGCCAG others(3): Show TGGGCCAGTGG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0013 a0016c0015t0001g0013	1	272	0.0037	-10	c.213 others(29): Show c.2139-3625_2139-3616delCCACTGGCCC	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	17/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0143 a0001c0005t0001g0143	1	41	0.0244	-10	c.150 others(25): Show c.1501+38_1501+47delAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68931761	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG02055.hp2 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03516.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0022 a0030	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0042 a0002c0006 a0007c0039 a0022c0051 a0030c0049	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0042t0001 a0002c0006t0001 a0007c0039t0001 a0022c0051t0004 a0030c0049t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 others(11): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0002t0001g0119 a0001c0002t0001g0126 a0001c0004t0001g0127 a0001c0042t0001g0129 a0002c0006t0001g0001 a0002c0006t0001g0095 a0007c0039t0001g0153 a0022c0051t0004g0121 a0030c0049t0001g0094	15	40	0.3750	-10	c.797 others(25): Show c.797+517_797+526delAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	7/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68944316	TTATATAT others(3): Show TTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0001 a0019c0028t0001	a0019c0028t0001g0112 a0019c0028t0001g0112	1	150	0.0067	-10	c.-5- others(25): Show c.-5-2287_-5-2278delTATATATATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	2/39			chr17	TogoVar

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