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
A1BG_chr19_58340183_58358492	58347689	C C	CCCCAGGC others(4): Show CCCCAGGCCGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(185): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0011 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0006c0011t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0002g0008 a0001c0001t0002g0080 a0001c0001t0004g0011 a0001c0001t0004g0077 a0001c0001t0009g0029 a0001c0001t0010g0066 a0001c0001t0011g0067 a0001c0001t0013g0068 a0001c0001t0014g0069 a0001c0001t0015g0070 a0001c0001t0016g0071 a0001c0001t0017g0072 a0001c0001t0018g0079 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0002g0003 a0003c0003t0001g0082 a0004c0004t0001g0028 a0005c0005t0001g0032 a0006c0011t0001g0056 a0007c0009t0001g0050	188	380	0.4947	11	c.119 others(26): Show c.1193-50_1193-49insCGCGGCCTGGG	A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding	6/7			chr19	TogoVar
A2M_chr12_9062708_9120919	9120884	T T	TGTGTGTG others(4): Show TGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	330	0.0030	11	c.-50 others(22): Show c.-5036_-5035insTACACACACAC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4966		chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTGTTTT others(4): Show GTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 NA20905.hp2 HG00099.hp2 HG01070.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0085 a0001c0001t0001g0020 a0001c0001t0001g0085	3	202	0.0149	11	c.336 others(28): Show c.336-1298_336-1297insAAAAAAAACAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00733.hp2 others(12): Show HG00639.hp1 HG00642.hp2 HG00733.hp2 HG02145.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0006c0005 others(1): Show a0001c0001 a0002c0002 a0006c0005 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0006c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0006c0005t0001 a0007c0007t0001	a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0040 others(11): Show a0001c0001t0001g0013 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0124 a0002c0002t0001g0044 a0002c0002t0001g0100 a0006c0005t0001g0034 a0007c0007t0001g0036	15	214	0.0701	11	c.336 others(28): Show c.336-1308_336-1298dupAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308752	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	415	0.0024	11	c.336 others(28): Show c.336-1300_336-1299insCAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308755	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19081.hp1 HG02602.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0106 a0001c0001t0001g0108	2	416	0.0048	11	c.336 others(28): Show c.336-1303_336-1302insCAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03195.hp2 NA18985.hp2 others(1): Show HG02809.hp1 HG03195.hp2 NA18985.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0005 a0001c0002 a0002c0003 a0004c0005	a0001c0002t0006 a0002c0003t0001 a0004c0005t0010 a0001c0002t0006 a0002c0003t0001 a0004c0005t0010	a0001c0002t0006g0151 a0002c0003t0001g0361 a0002c0003t0001g0370 others(1): Show a0001c0002t0006g0151 a0002c0003t0001g0361 a0002c0003t0001g0370 a0004c0005t0010g0271	4	121	0.0331	11	c.-18 others(28): Show c.-187-501_-187-491dupTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42714274	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0078 a0001c0002t0003g0078	1	124	0.0081	11	c.-18 others(30): Show c.-188+6512_-188+6522dupTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722222	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG01081.hp1 others(10): Show HG00733.hp1 HG01070.hp2 HG01081.hp1 HG01496.hp1 HG01993.hp2 HG02257.hp2 HG03942.hp2 NA18940.hp2 NA18981.hp2 NA19068.hp2 NA19077.hp1 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0001t0007 a0001c0002t0003	a0001c0001t0007g0030 a0001c0001t0007g0036 a0001c0002t0003g0001 others(10): Show a0001c0001t0007g0030 a0001c0001t0007g0036 a0001c0002t0003g0001 a0001c0002t0003g0018 a0001c0002t0003g0024 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0003g0064 a0001c0002t0003g0073	13	336	0.0387	11	c.-16 others(22): Show c.-1614_-1613insAAAAAAAAAAA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1353		chr22	TogoVar
AAAS_chr12_53302460_53326610	53318273	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	327	0.0031	11	c.251 others(28): Show c.251+2291_251+2292insCACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AACS_chr12_125060435_125148316	125112678	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00544.hp1 others(111): Show HG00140.hp2 HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19079.hp1 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0017 a0001c0020 a0002c0002 a0002c0005 a0002c0006 a0002c0007 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0004t0004 a0001c0008t0002 a0001c0012t0004 a0001c0017t0002 a0001c0020t0002 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001 a0006c0019t0001	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(106): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0097 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0249 a0001c0001t0001g0255 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0284 a0001c0001t0002g0291 a0001c0001t0002g0295 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0342 a0001c0001t0002g0345 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0005g0194 a0001c0001t0005g0344 a0001c0001t0010g0196 a0001c0003t0001g0072 a0001c0003t0001g0352 a0001c0003t0004g0081 a0001c0004t0004g0004 a0001c0004t0004g0252 a0001c0008t0002g0189 a0001c0012t0004g0218 a0001c0017t0002g0206 a0001c0020t0002g0170 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0125 a0002c0002t0001g0139 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0002g0357 a0002c0005t0001g0001 a0002c0005t0001g0017 a0002c0005t0001g0023 a0002c0005t0001g0024 a0002c0006t0001g0123 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0149 a0002c0007t0001g0018 a0006c0019t0001g0182	114	284	0.4014	11	c.916 others(28): Show c.916-1796_916-1786dupAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADAT_chr4_170055222_170094956	170056433	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	332	0.0030	11	c.44 others(22): Show c.4494_*4495insATATATATATA	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3788		chr4	TogoVar
AADAT_chr4_170055222_170094956	170056435	A A	AAATATAT others(4): Show AAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 NA18992.hp1 HG01516.hp1 HG01517.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0004 a0001c0001t0001g0023	3	163	0.0184	11	c.44 others(22): Show c.4492_*4493insATATATATATT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3786		chr4	TogoVar
AADAT_chr4_170055222_170094956	170056435	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18986.hp2 NA19088.hp1 NA18963.hp2 NA18986.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0001 a0001c0001t0001g0035	3	163	0.0184	11	c.44 others(22): Show c.4492_*4493insATATATATATA	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3786		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0204 a0002c0002t0003g0204	1	271	0.0037	11	c.535 others(28): Show c.535+9531_535+9532insGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67253260	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	26	0.0385	11	c.73+ others(26): Show c.73+1288_73+1298dupCCCCCCCCCCC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69492518	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0073 a0001c0001t0012g0073	1	72	0.0139	11	c.236 others(30): Show c.2365+3456_2365+3466dupAAAAAAAAAAA	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01433.hp2 HG02896.hp1 others(3): Show HG01167.hp1 HG01433.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp2 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0004c0013	a0001c0001t0074 a0001c0007t0014 a0001c0007t0021 others(3): Show a0001c0001t0074 a0001c0007t0014 a0001c0007t0021 a0001c0007t0143 a0002c0002t0040 a0004c0013t0102	a0001c0001t0074g0053 a0001c0007t0014g0271 a0001c0007t0021g0279 others(3): Show a0001c0001t0074g0053 a0001c0007t0014g0271 a0001c0007t0021g0279 a0001c0007t0143g0277 a0002c0002t0040g0042 a0004c0013t0102g0107	6	75	0.0800	11	c.236 others(30): Show c.2365+2816_2365+2826dupTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAMDC_chr11_77816144_77877352	77852224	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	4	0.2500	11	c.132 others(28): Show c.132+9603_132+9613dupAAAAAAAAAAA	AAMDC	ENSG00000087884.16	transcript	ENST00000393427.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
AANAT_chr17_76462603_76475117	76463309	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03453.hp1 NA18522.hp1 HG02630.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017	3	18	0.1667	11	c.-44 others(22): Show c.-4494_-4493insTTTTTTTTTTT	AANAT	ENSG00000129673.10	transcript	ENST00000392492.8	protein_coding		4293		chr17	TogoVar
AARS1_chr16_70247298_70294506	70262996	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	305	0.0033	11	c.149 others(28): Show c.1493-473_1493-472insGTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	11/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70293597	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02080.hp1 others(16): Show HG00423.hp1 HG02015.hp1 HG02080.hp1 HG02717.hp2 HG03239.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp1 NA18941.hp1 NA18949.hp2 NA18950.hp2 NA18960.hp1 NA18987.hp2 NA18999.hp1 NA19005.hp2 NA19009.hp1 NA19085.hp2 NA20129.hp2 NA21309.hp2	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0011	a0001c0001 a0001c0002 a0007c0017 others(2): Show a0001c0001 a0001c0002 a0007c0017 a0008c0015 a0011c0018	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0007c0017t0001 a0008c0015t0001 a0011c0018t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0021 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0133 a0001c0001t0008g0304 a0001c0002t0001g0002 a0007c0017t0001g0027 a0008c0015t0001g0008 a0011c0018t0001g0015	19	108	0.1759	11	c.-42 others(22): Show c.-4209_-4199dupAAAAAAAAAAA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding		4092		chr16	TogoVar
AARSD1_chr17_42945526_42969454	42967496	A A	ATATATAA others(4): Show ATATATAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01496.hp2 HG01952.hp2 others(3): Show HG01167.hp1 HG01496.hp2 HG01952.hp2 HG01993.hp1 NA18969.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0032 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0036	6	113	0.0531	11	c.-30 others(22): Show c.-3057_-3056insAATTTTATATA	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		3043		chr17	TogoVar
AASDH_chr4_56333290_56392491	56341389	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01258.hp1 HG02258.hp1 others(5): Show HG01175.hp2 HG01258.hp1 HG02258.hp1 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03516.hp1 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0049 others(5): Show a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0049 a0003c0003t0002g0269 a0003c0003t0002g0274 a0003c0003t0002g0276 a0003c0003t0002g0295 a0003c0003t0002g0296	8	86	0.0930	11	c.290 others(30): Show c.2907+1435_2907+1445dupAAAAAAAAAAA	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14			chr4	TogoVar
AASS_chr7_122068549_122149249	122140485	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	93	0.0108	11	c.-16 others(28): Show c.-16+3665_-16+3675dupTTTTTTTTTTT	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	1/23			chr7	TogoVar
AATF_chr17_36943954_37061871	37001455	G G	GGAAGGAA others(4): Show GGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02132.hp2 NA18994.hp1 HG00408.hp2 HG02132.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0158 a0001c0001t0001g0210 a0001c0002t0002g0128 a0001c0001t0001g0158 a0001c0001t0001g0210 a0001c0002t0002g0128	3	197	0.0152	11	c.139 others(32): Show c.1398+10598_1398+10599insGAAGGAAGGAA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11			chr17	TogoVar
AATF_chr17_36943954_37061871	37001457	A A	AAGGAAGG others(4): Show AAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	243	0.0041	11	c.139 others(32): Show c.1398+10601_1398+10602insGGAAGGAAGGA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
AATF_chr17_36943954_37061871	37014292	T T	TAATAATA others(4): Show TAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02293.hp2 HG03834.hp1 others(1): Show HG02135.hp2 HG02293.hp2 HG03834.hp1 NA19068.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0008 a0002c0004 a0004c0008	a0002c0004t0001 a0004c0008t0001 a0002c0004t0001 a0004c0008t0001	a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0102 others(1): Show a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0102 a0004c0008t0001g0101	4	241	0.0166	11	c.139 others(30): Show c.1399-4712_1399-4702dupAATAATAATAA	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABAT_chr16_8669617_8789570	8707353	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01192.hp2 HG01433.hp2 others(13): Show HG00438.hp1 HG01192.hp2 HG01433.hp2 HG01934.hp1 HG02027.hp2 HG02071.hp1 HG02109.hp1 HG02486.hp2 HG02559.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp2 HG04184.hp1 NA18991.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0007 a0002c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(9): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0017 a0002c0004t0003 a0002c0007t0014 a0002c0008t0002	a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0005g0045 others(13): Show a0001c0001t0003g0036 a0001c0001t0003g0041 a0001c0001t0005g0045 a0001c0001t0005g0075 a0001c0001t0008g0034 a0002c0002t0001g0081 a0002c0002t0002g0029 a0002c0002t0002g0047 a0002c0002t0003g0076 a0002c0002t0006g0037 a0002c0002t0007g0007 a0002c0002t0017g0048 a0002c0004t0003g0225 a0002c0007t0014g0033 a0002c0008t0002g0012 a0002c0008t0002g0014	16	118	0.1356	11	c.-41 others(30): Show c.-41-28339_-41-28329dupTTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8723828	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02071.hp2 NA18944.hp1 others(5): Show HG00609.hp2 HG02071.hp2 NA18944.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19007.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0004 others(1): Show a0001c0003 a0002c0002 a0002c0004 a0002c0005	a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 others(4): Show a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0003 a0002c0004t0004 a0002c0005t0003	a0001c0003t0001g0247 a0001c0003t0002g0182 a0002c0002t0001g0202 others(5): Show a0001c0003t0001g0247 a0001c0003t0002g0182 a0002c0002t0001g0202 a0002c0002t0002g0188 a0002c0004t0003g0025 a0002c0004t0003g0193 a0002c0004t0004g0124 a0002c0005t0003g0173	8	339	0.0236	11	c.-41 others(30): Show c.-41-11871_-41-11870insATATATATATA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15			chr16	TogoVar
ABAT_chr16_8669617_8789570	8754179	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02738.hp2 HG04115.hp1 others(4): Show HG02683.hp2 HG02738.hp2 HG04115.hp1 NA18951.hp1 NA18963.hp2 NA18967.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0043 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0043 a0001c0003t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0017	a0001c0001t0001g0210 a0001c0001t0043g0049 a0001c0003t0001g0099 others(4): Show a0001c0001t0001g0210 a0001c0001t0043g0049 a0001c0003t0001g0099 a0001c0003t0001g0356 a0002c0002t0003g0095 a0002c0002t0004g0064 a0002c0002t0017g0181	7	54	0.1296	11	c.317 others(28): Show c.317-3562_317-3552dupAAAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69208417	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0012 a0010c0022t0012	a0010c0022t0012g0139 a0010c0022t0012g0139	1	101	0.0099	11	c.100 others(30): Show c.1006+6276_1006+6286dupTTTTTTTTTTT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210842	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG02486.hp2 others(8): Show HG00639.hp1 HG01361.hp2 HG02486.hp2 HG02809.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp2 NA18522.hp2 NA19240.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0007 a0006c0016 a0005c0005 a0006c0007 a0006c0016	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(1): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0016t0004	a0005c0005t0004g0222 a0005c0005t0004g0262 a0005c0005t0015g0218 others(8): Show a0005c0005t0004g0222 a0005c0005t0004g0262 a0005c0005t0015g0218 a0006c0007t0004g0114 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0016t0004g0188 a0006c0016t0004g0191	11	331	0.0332	11	c.100 others(30): Show c.1006+3861_1006+3862insTATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	215016582	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02155.hp2 NA19012.hp2 HG01934.hp1 HG02155.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0004t0003 a0001c0001t0002 a0001c0004t0001 a0001c0004t0003	a0001c0001t0002g0032 a0001c0004t0001g0092 a0001c0004t0003g0062 a0001c0001t0002g0032 a0001c0004t0001g0092 a0001c0004t0003g0062	3	21	0.1429	11	c.178 others(28): Show c.1783-930_1783-920dupTTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	215119752	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02630.hp1 HG03579.hp1 HG02257.hp2 HG02630.hp1 HG03579.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0012 a0002c0008 a0006c0062 a0001c0012 a0002c0008 a0006c0062	a0001c0012t0014 a0002c0008t0007 a0006c0062t0004 a0001c0012t0014 a0002c0008t0007 a0006c0062t0004	a0001c0012t0014g0015 a0002c0008t0007g0010 a0006c0062t0004g0078 a0001c0012t0014g0015 a0002c0008t0007g0010 a0006c0062t0004g0078	3	179	0.0168	11	c.70- others(26): Show c.70-8063_70-8062insGTTTTTTTTTT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	1/52			chr2	TogoVar
ABCA13_chr7_48166458_48652497	48232139	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp2 HG01243.hp2 others(10): Show HG01074.hp1 HG01123.hp2 HG01243.hp2 HG02055.hp1 HG02132.hp1 HG02132.hp2 HG02809.hp1 HG02970.hp1 HG03453.hp2 HG03471.hp2 HG04204.hp1 NA18979.hp2 NA19007.hp1	a0001 a0004 a0013 others(8): Show a0001 a0004 a0013 a0018 a0020 a0029 a0034 a0044 a0057 a0063 a0068	a0001c0001 a0004c0009 a0013c0006 others(8): Show a0001c0001 a0004c0009 a0013c0006 a0018c0026 a0020c0020 a0029c0096 a0034c0093 a0044c0114 a0057c0054 a0063c0087 a0068c0040	a0001c0001t0001 a0001c0001t0004 a0004c0009t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0004c0009t0001 a0013c0006t0001 a0018c0026t0001 a0020c0020t0001 a0020c0020t0005 a0029c0096t0001 a0034c0093t0002 a0044c0114t0004 a0057c0054t0002 a0063c0087t0002 a0068c0040t0001	a0001c0001t0001g0133 a0001c0001t0004g0049 a0004c0009t0001g0115 others(10): Show a0001c0001t0001g0133 a0001c0001t0004g0049 a0004c0009t0001g0115 a0013c0006t0001g0016 a0018c0026t0001g0057 a0020c0020t0001g0007 a0020c0020t0005g0123 a0029c0096t0001g0053 a0034c0093t0002g0150 a0044c0114t0004g0065 a0057c0054t0002g0015 a0063c0087t0002g0153 a0068c0040t0001g0009	13	15	0.8667	11	c.764 others(28): Show c.764-1864_764-1854dupTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	7/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48358248	A A	AGGGGAGG others(4): Show AGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0002 a0012c0012t0002	a0012c0012t0002g0098 a0012c0012t0002g0098	1	176	0.0057	11	c.106 others(32): Show c.10688+5765_10688+5775dupGAGGGGAGGGG	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	31/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48550265	C C	CTTTCTTT others(4): Show CTTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02622.hp1 others(6): Show HG02258.hp2 HG02280.hp1 HG02622.hp1 HG02886.hp1 HG03486.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1	a0002 a0007 a0045 others(6): Show a0002 a0007 a0045 a0046 a0050 a0069 a0074 a0075 a0076	a0002c0022 a0007c0011 a0045c0041 others(6): Show a0002c0022 a0007c0011 a0045c0041 a0046c0067 a0050c0080 a0069c0086 a0074c0036 a0075c0048 a0076c0110	a0002c0022t0004 a0007c0011t0007 a0045c0041t0004 others(6): Show a0002c0022t0004 a0007c0011t0007 a0045c0041t0004 a0046c0067t0009 a0050c0080t0013 a0069c0086t0009 a0074c0036t0007 a0075c0048t0004 a0076c0110t0007	a0002c0022t0004g0163 a0007c0011t0007g0165 a0045c0041t0004g0039 others(6): Show a0002c0022t0004g0163 a0007c0011t0007g0165 a0045c0041t0004g0039 a0046c0067t0009g0144 a0050c0080t0013g0158 a0069c0086t0009g0160 a0074c0036t0007g0083 a0075c0048t0004g0159 a0076c0110t0007g0126	9	149	0.0604	11	c.143 others(34): Show c.14354+21923_14354+21924insCTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48550265	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01123.hp1 others(23): Show HG00408.hp1 HG00741.hp1 HG01123.hp1 HG01169.hp1 HG01516.hp2 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03453.hp1 HG04204.hp1 NA18942.hp1 NA18971.hp1 NA18987.hp1 NA18991.hp2 NA18998.hp2 NA19007.hp2 NA19030.hp2 NA19060.hp1 NA19091.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0008 a0012 a0016 a0021 a0025 a0031 a0037 a0039 a0044 a0052 a0056 a0061 a0065 a0067 a0083	a0001c0001 a0002c0002 a0003c0003 others(18): Show a0001c0001 a0002c0002 a0003c0003 a0003c0004 a0004c0008 a0008c0013 a0008c0032 a0012c0012 a0016c0029 a0021c0018 a0025c0085 a0031c0061 a0037c0042 a0039c0092 a0044c0114 a0052c0106 a0056c0035 a0061c0098 a0065c0056 a0067c0053 a0083c0050	a0001c0001t0004 a0002c0002t0004 a0003c0003t0004 others(19): Show a0001c0001t0004 a0002c0002t0004 a0003c0003t0004 a0003c0004t0002 a0003c0004t0004 a0004c0008t0004 a0008c0013t0001 a0008c0032t0001 a0012c0012t0002 a0016c0029t0004 a0021c0018t0004 a0025c0085t0004 a0031c0061t0004 a0037c0042t0004 a0039c0092t0004 a0044c0114t0004 a0052c0106t0005 a0056c0035t0002 a0061c0098t0001 a0065c0056t0002 a0067c0053t0004 a0083c0050t0004	a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(23): Show a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0036 a0003c0004t0002g0035 a0003c0004t0004g0030 a0004c0008t0004g0166 a0008c0013t0001g0110 a0008c0032t0001g0080 a0012c0012t0002g0056 a0012c0012t0002g0098 a0016c0029t0004g0071 a0021c0018t0004g0095 a0025c0085t0004g0008 a0031c0061t0004g0013 a0037c0042t0004g0074 a0039c0092t0004g0099 a0044c0114t0004g0065 a0052c0106t0005g0006 a0056c0035t0002g0157 a0061c0098t0001g0070 a0065c0056t0002g0018 a0067c0053t0004g0122 a0083c0050t0004g0103	26	166	0.1566	11	c.143 others(34): Show c.14354+21928_14354+21929insTTTTTTTTTTT	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48637381	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0059 a0059	a0059c0059 a0059c0059	a0059c0059t0003 a0059c0059t0003	a0059c0059t0003g0172 a0059c0059t0003g0172	1	53	0.0189	11	c.148 others(32): Show c.14838-5892_14838-5882dupAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	59/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104865515	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02280.hp2 others(5): Show HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02922.hp1 HG03540.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0011 a0035	a0002c0017 a0002c0037 a0002c0058 others(5): Show a0002c0017 a0002c0037 a0002c0058 a0003c0077 a0005c0036 a0005c0082 a0011c0041 a0035c0091	a0002c0017t0026 a0002c0037t0001 a0002c0058t0007 others(5): Show a0002c0017t0026 a0002c0037t0001 a0002c0058t0007 a0003c0077t0005 a0005c0036t0001 a0005c0082t0002 a0011c0041t0001 a0035c0091t0008	a0002c0017t0026g0190 a0002c0037t0001g0189 a0002c0058t0007g0146 others(5): Show a0002c0017t0026g0190 a0002c0037t0001g0189 a0002c0058t0007g0146 a0003c0077t0005g0311 a0005c0036t0001g0092 a0005c0082t0002g0196 a0011c0041t0001g0188 a0035c0091t0008g0207	8	291	0.0275	11	c.422 others(28): Show c.422-3726_422-3716dupTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104882028	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	21	0.0476	11	c.421 others(28): Show c.421+1000_421+1010dupTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104896711	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp2 HG02976.hp2 NA18906.hp2	a0005 a0011 a0005 a0011	a0005c0026 a0011c0041 a0005c0026 a0011c0041	a0005c0026t0024 a0011c0041t0001 a0005c0026t0024 a0011c0041t0001	a0005c0026t0024g0201 a0011c0041t0001g0188 a0005c0026t0024g0201 a0011c0041t0001g0188	2	47	0.0426	11	c.66+ others(26): Show c.66+6892_66+6902dupAAAAAAAAAAA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	2/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104925375	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG01993.hp1 others(5): Show HG01243.hp2 HG01261.hp1 HG01993.hp1 HG03041.hp2 HG03831.hp2 HG04199.hp2 NA18953.hp2 NA19078.hp1	a0001 a0003 a0008 others(5): Show a0001 a0003 a0008 a0012 a0015 a0017 a0023 a0033	a0001c0001 a0003c0002 a0008c0006 others(5): Show a0001c0001 a0003c0002 a0008c0006 a0012c0010 a0015c0061 a0017c0080 a0023c0060 a0033c0094	a0001c0001t0001 a0003c0002t0002 a0008c0006t0012 others(5): Show a0001c0001t0001 a0003c0002t0002 a0008c0006t0012 a0012c0010t0005 a0015c0061t0001 a0017c0080t0004 a0023c0060t0001 a0033c0094t0009	a0001c0001t0001g0078 a0003c0002t0002g0227 a0008c0006t0012g0082 others(5): Show a0001c0001t0001g0078 a0003c0002t0002g0227 a0008c0006t0012g0082 a0012c0010t0005g0224 a0015c0061t0001g0081 a0017c0080t0004g0108 a0023c0060t0001g0079 a0033c0094t0009g0080	8	253	0.0316	11	c.-93 others(28): Show c.-93+2549_-93+2559dupTTTTTTTTTTT	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	1/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2290002	C C	CACACACA others(4): Show CACACACACACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	245	0.0041	11	c.251 others(28): Show c.2514-383_2514-382insTGTGTGTGTGT	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	19/32			chr16	TogoVar
ABCA4_chr1_93987834_94126148	93991732	A A	AGGACCCT others(4): Show AGGACCCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00639.hp1 others(52): Show HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00733.hp2 HG01081.hp2 HG01884.hp1 HG01891.hp2 HG02040.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18974.hp1 NA18979.hp2 NA18997.hp2 NA19000.hp1 NA19030.hp2 NA19055.hp1 NA19063.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0003 a0004 others(13): Show a0001 a0003 a0004 a0005 a0006 a0016 a0017 a0021 a0022 a0024 a0033 a0034 a0040 a0041 a0043 a0046	a0001c0001 a0001c0004 a0001c0085 others(39): Show a0001c0001 a0001c0004 a0001c0085 a0003c0008 a0003c0015 a0003c0020 a0003c0031 a0003c0033 a0003c0057 a0003c0061 a0003c0065 a0003c0066 a0003c0067 a0003c0068 a0003c0072 a0003c0078 a0003c0082 a0004c0011 a0004c0035 a0004c0039 a0004c0044 a0004c0046 a0005c0026 a0005c0027 a0005c0034 a0005c0097 a0006c0012 a0006c0054 a0006c0076 a0016c0089 a0016c0090 a0017c0050 a0017c0051 a0021c0077 a0022c0110 a0024c0074 a0033c0102 a0034c0092 a0040c0056 a0041c0071 a0043c0036 a0046c0105	a0001c0001t0002 a0001c0004t0002 a0001c0085t0002 others(39): Show a0001c0001t0002 a0001c0004t0002 a0001c0085t0002 a0003c0008t0002 a0003c0015t0001 a0003c0020t0001 a0003c0031t0004 a0003c0033t0001 a0003c0057t0002 a0003c0061t0001 a0003c0065t0002 a0003c0066t0003 a0003c0067t0001 a0003c0068t0001 a0003c0072t0001 a0003c0078t0004 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0004c0039t0001 a0004c0044t0002 a0004c0046t0001 a0005c0026t0001 a0005c0027t0002 a0005c0034t0002 a0005c0097t0002 a0006c0012t0001 a0006c0054t0002 a0006c0076t0001 a0016c0089t0001 a0016c0090t0003 a0017c0050t0001 a0017c0051t0002 a0021c0077t0002 a0022c0110t0001 a0024c0074t0002 a0033c0102t0001 a0034c0092t0004 a0040c0056t0003 a0041c0071t0003 a0043c0036t0003 a0046c0105t0001	a0001c0001t0002g0063 a0001c0001t0002g0103 a0001c0004t0002g0231 others(52): Show a0001c0001t0002g0063 a0001c0001t0002g0103 a0001c0004t0002g0231 a0001c0085t0002g0277 a0003c0008t0002g0040 a0003c0008t0002g0147 a0003c0008t0002g0178 a0003c0008t0002g0237 a0003c0008t0002g0261 a0003c0008t0002g0293 a0003c0015t0001g0184 a0003c0015t0001g0185 a0003c0020t0001g0116 a0003c0031t0004g0131 a0003c0033t0001g0183 a0003c0057t0002g0133 a0003c0061t0001g0029 a0003c0065t0002g0259 a0003c0066t0003g0186 a0003c0067t0001g0125 a0003c0068t0001g0035 a0003c0072t0001g0039 a0003c0078t0004g0242 a0003c0082t0002g0212 a0004c0011t0002g0111 a0004c0011t0002g0123 a0004c0011t0002g0124 a0004c0035t0002g0051 a0004c0039t0001g0115 a0004c0044t0002g0205 a0004c0046t0001g0112 a0005c0026t0001g0298 a0005c0026t0001g0299 a0005c0027t0002g0020 a0005c0027t0002g0078 a0005c0034t0002g0132 a0005c0097t0002g0093 a0006c0012t0001g0038 a0006c0012t0001g0126 a0006c0012t0001g0174 a0006c0054t0002g0120 a0006c0076t0001g0136 a0016c0089t0001g0296 a0016c0090t0003g0031 a0017c0050t0001g0009 a0017c0051t0002g0010 a0021c0077t0002g0166 a0022c0110t0001g0300 a0024c0074t0002g0246 a0033c0102t0001g0012 a0034c0092t0004g0165 a0040c0056t0003g0142 a0041c0071t0003g0032 a0043c0036t0003g0050 a0046c0105t0001g0121	55	304	0.1809	11	c.15 others(22): Show c.1504_*1505insAAGAAGGGTCC	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding		1101		chr1	TogoVar
ABCA4_chr1_93987834_94126148	94019019	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0005 a0001c0055t0005	a0001c0055t0005g0301 a0001c0055t0005g0301	1	185	0.0054	11	c.519 others(28): Show c.5196+552_5196+562dupAAAAAAAAAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	36/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94117007	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19079.hp2 HG02717.hp1 NA19079.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0141 a0006c0012t0001g0174 a0001c0001t0001g0141 a0006c0012t0001g0174	2	279	0.0072	11	c.67- others(26): Show c.67-3952_67-3942dupGAAAGAAAGAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA4_chr1_93987834_94126148	94117011	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0046 a0046	a0046c0105 a0046c0105	a0046c0105t0001 a0046c0105t0001	a0046c0105t0001g0121 a0046c0105t0001g0121	1	303	0.0033	11	c.67- others(26): Show c.67-3956_67-3946dupGAAAGAAAGAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01192.hp1 others(23): Show HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01515.hp2 HG01884.hp2 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02922.hp2 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 NA18906.hp1 NA19030.hp1 NA19057.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0002c0016 a0001c0004 a0002c0001 a0002c0016	a0001c0004t0003 a0001c0004t0008 a0001c0004t0026 others(3): Show a0001c0004t0003 a0001c0004t0008 a0001c0004t0026 a0002c0001t0004 a0002c0001t0008 a0002c0016t0004	a0001c0004t0003g0165 a0001c0004t0008g0166 a0001c0004t0026g0164 others(22): Show a0001c0004t0003g0165 a0001c0004t0008g0166 a0001c0004t0026g0164 a0002c0001t0004g0004 a0002c0001t0004g0167 a0002c0001t0004g0168 a0002c0001t0004g0169 a0002c0001t0004g0170 a0002c0001t0004g0171 a0002c0001t0004g0172 a0002c0001t0004g0173 a0002c0001t0004g0174 a0002c0001t0004g0175 a0002c0001t0004g0176 a0002c0001t0004g0177 a0002c0001t0004g0181 a0002c0001t0004g0183 a0002c0001t0004g0184 a0002c0001t0004g0186 a0002c0001t0004g0188 a0002c0001t0004g0189 a0002c0001t0004g0190 a0002c0001t0004g0191 a0002c0001t0008g0180 a0002c0016t0004g0178	26	42	0.6190	11	c.331 others(30): Show c.3315+1027_3315+1037dupAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar

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