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
LRMDA_chr10_75426624_76565168	75672589	C C	CCCTTCCC others(42): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTACCCTACCCTACCCTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0045 a0001c0002t0019g0045	1	23	0.0435	49	c.131 others(70): Show c.131+234095_131+234096insCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTACCCTACCCTACCCTG	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6			chr10	TogoVar
LRP2_chr2_169122109_169367534	169326172	C C	CTCCCTCT others(42): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18998.hp2 HG04199.hp1 NA18998.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0129 a0002c0003 a0005c0129	a0002c0003t0001 a0005c0129t0004 a0002c0003t0001 a0005c0129t0004	a0002c0003t0001g0195 a0005c0129t0004g0163 a0002c0003t0001g0195 a0005c0129t0004g0163	2	158	0.0127	49	c.80- others(64): Show c.80-5289_80-5288insAGAGGGGGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGA	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169327895	C C	CCCCCCGC others(42): Show CCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTCTGGGGGTCAGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp1 HG02109.hp2 others(4): Show HG01255.hp1 HG02109.hp1 HG02109.hp2 HG02622.hp1 HG03225.hp2 HG03471.hp2 NA19030.hp2	a0005 a0017 a0031 others(4): Show a0005 a0017 a0031 a0038 a0047 a0050 a0064	a0005c0014 a0017c0155 a0031c0161 others(4): Show a0005c0014 a0017c0155 a0031c0161 a0038c0124 a0047c0151 a0050c0134 a0064c0159	a0005c0014t0007 a0017c0155t0001 a0031c0161t0016 others(4): Show a0005c0014t0007 a0017c0155t0001 a0031c0161t0016 a0038c0124t0010 a0047c0151t0010 a0050c0134t0001 a0064c0159t0005	a0005c0014t0007g0142 a0017c0155t0001g0062 a0031c0161t0016g0242 others(4): Show a0005c0014t0007g0142 a0017c0155t0001g0062 a0031c0161t0016g0242 a0038c0124t0010g0068 a0047c0151t0010g0144 a0050c0134t0001g0143 a0064c0159t0005g0057	7	244	0.0287	49	c.80- others(64): Show c.80-7012_80-7011insACTGACCCCCAGACCTCCCTCCCGGACGGG GCGTCTGGCCGGGCGGGGG	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRPAP1_chr4_3498612_3537422	3537260	C C	CCAGAATC others(42): Show CCAGAATCCAGAGACTCAAAACGAAATACAGTCATACAGTAAGATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	418	0.0024	49	c.-48 others(60): Show c.-4849_-4848insCACATATCTTACTGTATGACTGTATTTCGTTTTG AGTCTCTGGATTCTG	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding		4839		chr4	TogoVar
LRRC1_chr6_53790005_53929125	53827964	T T	TGGATAGC others(42): Show TGGATAGCTATTGGAAAGCTTTGAGAAGACCTGTTTATGCTGCATTAGGG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0274 a0002c0002t0002g0274	1	368	0.0027	49	c.160 others(68): Show c.160-14144_160-14096dupGATAGCTATTGGAAAGCTTTGAGAAG ACCTGTTTATGCTGCATTAGGGG	LRRC1	ENSG00000137269.15	transcript	ENST00000370888.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
LRRC27_chr10_132327193_132386508	132358647	C C	CGTGGGGA others(42): Show CGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0073 a0001c0001t0025g0073	1	222	0.0045	49	c.117 others(68): Show c.1170+2761_1170+2762insGTGGGGAGGAGCCGAGGTGGTGGAGC GTGGGGAGGAGCCGAGGTGGTGG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358873	C C	CGTGGGGA others(42): Show CGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0020 a0002c0004t0022g0020	1	270	0.0037	49	c.117 others(68): Show c.1171-2584_1171-2583insGTGGGGAGGAGCCGAGGTGGTGGAGC GTGGGGAGGAGCCGAGGTGGTGG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar
LRRC40_chr1_70139805_70210579	70190677	T T	TAAAAAAA others(42): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	91	0.0110	49	c.152 others(66): Show c.152-1405_152-1404insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	LRRC40	ENSG00000066557.6	transcript	ENST00000370952.4	protein_coding	1/14			chr1	TogoVar
LRRC4C_chr11_40109209_41464652	41304082	C C	CGGGAGGG others(42): Show CGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCAGCCAGCTGCCCCGTCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02698.hp1 HG01261.hp1 HG02055.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0035 a0001c0001t0002g0032 a0001c0002t0002g0008 a0001c0001t0001g0035 a0001c0001t0002g0032 a0001c0002t0002g0008	3	48	0.0625	49	c.-49 others(72): Show c.-496+155348_-496+155349insAGACGGGGCAGCTGGCTGGGCG GAGGGCTGACCCCCCCACCTCCCTCCC	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
LRRC74A_chr14_76821408_76875304	76822038	G G	GGGAGGGA others(42): Show GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0262 a0008c0017t0001g0262	1	404	0.0025	49	c.-46 others(60): Show c.-4660_-4659insGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCA	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4369		chr14	TogoVar
LRRC74A_chr14_76821408_76875304	76822038	G G	GGGAGGGA others(42): Show GGGAGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA19000.hp2 NA18957.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0283 a0001c0001t0002g0318 a0001c0001t0001g0283 a0001c0001t0002g0318	2	405	0.0049	49	c.-46 others(60): Show c.-4660_-4659insGGAGGGAGGTGGGGGGTTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCA	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4369		chr14	TogoVar
LRRC74A_chr14_76821408_76875304	76822087	A A	AGGAGGGA others(42): Show AGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00642.hp2 others(65): Show HG00408.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG02040.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02723.hp1 HG02922.hp2 HG03139.hp1 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18986.hp2 NA18990.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 a0005c0009t0001 a0005c0009t0002	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(62): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0297 a0001c0001t0002g0303 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0301 a0001c0001t0004g0321 a0001c0004t0001g0296 a0001c0007t0001g0278 a0002c0002t0001g0014 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0251 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0304 a0002c0002t0001g0320 a0002c0002t0002g0255 a0002c0002t0014g0313 a0005c0009t0001g0300 a0005c0009t0001g0307 a0005c0009t0001g0308 a0005c0009t0001g0309 a0005c0009t0001g0310 a0005c0009t0001g0315 a0005c0009t0002g0311	68	345	0.1971	49	c.-46 others(60): Show c.-4611_-4610insGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCTGTCCG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding		4320		chr14	TogoVar
LRRC7_chr1_69562922_70149364	69718142	G G	GAGAGAAG others(42): Show GAGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0074 a0001c0003t0074	a0001c0003t0074g0054 a0001c0003t0074g0054	1	5	0.2000	49	c.100 others(68): Show c.100+39667_100+39668insGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGA	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRIQ1_chr12_85031351_85250105	85193016	T T	TATATAAA others(42): Show TATATAAATATATAATTATATAATATAATATATAAATATATAATTATATA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19003.hp2 NA18940.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0150 a0001c0001t0002g0151	2	226	0.0088	49	c.482 others(70): Show c.4822+32305_4822+32306insTAAATATATAATTATATAATATAA TATATAAATATATAATTATATAATA	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRIQ4_chr3_169807870_169842773	169808240	G G	GAGGGATA others(42): Show GAGGGATAGGCAATCTCAGAAAAAAAAAAAAAGAAAGATTCACTGCACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0027 a0003c0004t0001g0027	1	384	0.0026	49	c.-48 others(60): Show c.-4838_-4837insAGGGATAGGCAATCTCAGAAAAAAAAAAAAAGAA AGATTCACTGCACAA	LRRIQ4	ENSG00000188306.7	transcript	ENST00000340806.7	protein_coding		4629		chr3	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ATATACAT others(42): Show ATATACATATATATATATATACATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0243 a0001c0069t0243	a0001c0069t0243g0338 a0001c0069t0243g0338	1	81	0.0123	49	c.98- others(66): Show c.98-10980_98-10979insATACATATATATATATATACATATATAT ATATATATTTTTTTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	ATAAAAAA others(42): Show ATAAAAAAAATAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	47	0.0213	49	c.153 others(70): Show c.1536+50100_1536+50101insTAAAAAAAATAAAAAAAAAAAATA TATATATATATATATATATATATAT	LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2			chr10	TogoVar
LRTM2_chr12_1815565_1841753	1818170	G G	GCAGCCGC others(42): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02895.hp2 HG02897.hp2 others(1): Show HG02055.hp1 HG02895.hp2 HG02897.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0032 a0001c0001t0003 a0001c0001t0031 a0001c0001t0032	a0001c0001t0003g0036 a0001c0001t0031g0384 a0001c0001t0032g0385 a0001c0001t0003g0036 a0001c0001t0031g0384 a0001c0001t0032g0385	4	459	0.0087	49	c.-29 others(60): Show c.-2903_-2902insCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCGGGC	LRTM2	ENSG00000166159.11	transcript	ENST00000299194.6	protein_coding		2394		chr12	TogoVar
LUC7L_chr16_183990_234449	186644	G G	GGGGGAAC others(42): Show GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	348	0.0029	49	c.25 others(60): Show c.2553_*2554insGTGTCGCTGTTCCTCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2345		chr16	TogoVar
LURAP1L_chr9_12770020_12828060	12807094	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0294 a0001c0001t0004g0294	1	192	0.0052	49	c.313 others(68): Show c.313-14292_313-14291insTATATATATATATATATATATATATA TATATATATATATATATATATAT	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1			chr9	TogoVar
LUZP2_chr11_24492053_25087638	24629431	G G	GTATTCCA others(42): Show GTATTCCATTGCATATATATATATGCATTATATATTATACATTATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	116	0.0086	49	c.63- others(66): Show c.63-99707_63-99706insTATTATACATTATATATATATTCCATTG CATATATATATATGCATTATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY6L_chr8_143075630_143088486	143085017	T T	TCAGGGTA others(42): Show TCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTGCCACGTTCGACGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA19062.hp1 NA18941.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	426	0.0047	49	c.23 others(60): Show c.2366_*2367insCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTG CCACGTTCGACGTCC	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1532		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085026	C C	TGCACCAG others(42): Show TGCACCAGCCCAGTGGTGTAGACCTGCCACGTTCGACGTCCCAGGGTAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA19080.hp1 NA21309.hp1 NA18978.hp1 NA19080.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	3	336	0.0089	49	c.23 others(60): Show c.2374_*2375insTGCACCAGCCCAGTGGTGTAGACCTGCCACGTTC GACGTCCCAGGGTAA	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1540		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085027	A A	ACACCAGC others(42): Show ACACCAGCCCAGTGGTGTAGACCTGCCACGTTCGACGTCCCAGGGTAACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp2 others(63): Show HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01884.hp2 HG01934.hp1 HG02135.hp1 HG02257.hp2 HG02300.hp1 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18970.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017	a0001c0001t0001g0017 a0001c0001t0002g0002 a0001c0001t0002g0003 others(10): Show a0001c0001t0001g0017 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0003g0015 a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0004g0018 a0001c0001t0006g0002 a0001c0001t0007g0002 a0001c0001t0017g0003	66	190	0.3474	49	c.23 others(60): Show c.2376_*2377insCACCAGCCCAGTGGTGTAGACCTGCCACGTTCGA CGTCCCAGGGTAACG	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1542		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085027	A A	ACACCAGC others(42): Show ACACCAGCCCAGTTGTGTAGACCTGCCACGTTCGACATCCCAGGGTAACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG02040.hp2 others(22): Show HG00423.hp2 HG00558.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02258.hp2 HG02300.hp2 HG02615.hp2 HG02717.hp2 HG03492.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18965.hp1 NA18970.hp1 NA18991.hp1 NA18994.hp1 NA19058.hp2 NA19062.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0003 a0001c0001t0003 a0001c0005t0003	a0001c0001t0003g0004 a0001c0005t0003g0004 a0001c0001t0003g0004 a0001c0005t0003g0004	25	149	0.1678	49	c.23 others(60): Show c.2376_*2377insCACCAGCCCAGTTGTGTAGACCTGCCACGTTCGA CATCCCAGGGTAACG	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1542		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085027	A A	ACACCAGC others(42): Show ACACCAGCCCAGTTGTGTAGACCTGCCACGTTCGACGTCCCAGGGTAACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02486.hp2 others(12): Show HG01884.hp1 HG01891.hp2 HG02486.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0005c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0003g0002 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0003g0002 a0001c0001t0008g0020 a0001c0001t0009g0002 a0001c0001t0016g0002 a0005c0004t0002g0002	15	139	0.1079	49	c.23 others(60): Show c.2376_*2377insCACCAGCCCAGTTGTGTAGACCTGCCACGTTCGA CGTCCCAGGGTAACG	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1542		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085154	G G	GTTCGACG others(42): Show GTTCGACGTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTGCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG03130.hp1 others(1): Show HG01891.hp2 HG02486.hp2 HG03130.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0002 a0001c0001t0002 a0005c0004t0002	a0001c0001t0002g0002 a0001c0001t0002g0021 a0005c0004t0002g0002 a0001c0001t0002g0002 a0001c0001t0002g0021 a0005c0004t0002g0002	4	428	0.0093	49	c.25 others(60): Show c.2503_*2504insTTCGACGTCCCAGGGTAACGCACCAGCCCAGTGG TGTAGACCTGCCACA	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1669		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085202	C C	CGTTCGAC others(42): Show CGTTCGACGTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	428	0.0023	49	c.25 others(60): Show c.2551_*2552insGTTCGACGTCCCAGGGTAACGCACCAGCCCAGTG GTGTAGACCTGCCAT	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1717		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085203	G G	GTTCGACG others(42): Show GTTCGACGTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTGCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	49	c.25 others(60): Show c.2552_*2553insTTCGACGTCCCAGGGTAACGCACCAGCCCAGTGG TGTAGACCTGCCACA	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1718		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085300	C C	CGTTCGAC others(42): Show CGTTCGACGTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTGATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 NA18949.hp2 NA18954.hp2 HG02015.hp2 NA18949.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0003 a0001c0001t0004g0003 a0001c0001t0002g0003 a0001c0001t0004g0003	3	428	0.0070	49	c.26 others(60): Show c.2649_*2650insGTTCGACGTCCCAGGGTAACGCACCAGCCCAGTG GTGTAGACCTGATGT	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1815		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085308	G G	GTCCCAGG others(42): Show GTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTGCCACATTCGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	154	0.0065	49	c.26 others(60): Show c.2657_*2658insTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGAC CTGCCACATTCGACA	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1823		chr8	TogoVar
LY6L_chr8_143075630_143088486	143085308	G G	GTCCCAGG others(42): Show GTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGACCTGCCACGTTCGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(221): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18997.hp1 NA18997.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0005g0001 a0001c0001t0007g0002 a0001c0001t0007g0027 a0001c0001t0010g0001 a0001c0001t0013g0001 a0001c0001t0015g0001	224	377	0.5942	49	c.26 others(60): Show c.2657_*2658insTCCCAGGGTAACGCACCAGCCCAGTGGTGTAGAC CTGCCACGTTCGACA	LY6L	ENSG00000261667.2	transcript	ENST00000562505.2	protein_coding		1823		chr8	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02559.hp1 HG01192.hp2 HG02559.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0009 a0001c0001t0002 a0003c0003t0009	a0001c0001t0002g0133 a0003c0003t0009g0134 a0001c0001t0002g0133 a0003c0003t0009g0134	2	259	0.0077	49	c.101 others(68): Show c.101+16774_101+16775insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
MACIR_chr5_103253763_103283660	103261645	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	356	0.0028	49	c.-11 others(68): Show c.-114+2750_-114+2798dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261646	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03710.hp2 NA18981.hp2 HG02895.hp1 HG03710.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0214 a0001c0001t0002g0161 a0001c0001t0002g0203 a0001c0001t0001g0214 a0001c0001t0002g0161 a0001c0001t0002g0203	3	347	0.0086	49	c.-11 others(68): Show c.-114+2753_-114+2801dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261650	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG02523.hp2 others(2): Show HG01071.hp2 HG01496.hp1 HG02523.hp2 NA18993.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0050 a0001c0001t0002g0198 a0001c0001t0002g0199 others(2): Show a0001c0001t0002g0050 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0215 a0001c0001t0011g0050	5	344	0.0145	49	c.-11 others(68): Show c.-114+2757_-114+2805dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18977.hp1 NA19087.hp2 HG02293.hp2 NA18977.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0073 a0001c0001t0002g0188 a0001c0001t0002g0189	3	337	0.0089	49	c.-11 others(68): Show c.-114+2760_-114+2808dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261658	C C	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18980.hp2 HG02257.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0179 a0001c0001t0002g0180	2	342	0.0058	49	c.-11 others(68): Show c.-114+2808_-114+2809insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAD1L1_chr7_1810795_2237945	2113040	C C	CGACGAGG others(42): Show CGACGAGGGGCAGAGCCTCCCTCAGCAAAGCGTCCCACTCAGGAAACGGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	247	0.0040	49	c.107 others(70): Show c.1073+36063_1073+36111dupCCCGTTTCCTGAGTGGGACGCTTT GCTGAGGGAGGCTCTGCCCCTCGTC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1330472	A A	ATGCCCGG others(42): Show ATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	330	0.0030	49	c.657 others(66): Show c.657-2285_657-2284insTGCCCGGCTAATTTTTGTATTTTTAGTA GAGATGGGGTTTCACCATGTT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8			chr4	TogoVar
MAEA_chr4_1284891_1345137	1330473	C C	CGCCCGGC others(42): Show CGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01109.hp1 others(54): Show HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp1 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02004.hp1 HG02071.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA18964.hp2 NA18967.hp2 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18989.hp1 NA18994.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0004t0008 a0001c0005t0001 a0001c0007t0005	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 others(54): Show a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0280 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0005g0013 a0001c0001t0006g0244 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0013g0154 a0001c0004t0008g0309 a0001c0005t0001g0257 a0001c0005t0001g0258 a0001c0007t0005g0012	57	384	0.1484	49	c.657 others(66): Show c.657-2280_657-2232dupCGGCTAATTTTTGTATTTTTAGTAGAGA TGGGGTTTCACCATGTTGGCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1330477	C C	CGGCTAAT others(42): Show CGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03490.hp1 HG03492.hp1 HG01175.hp2 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0014 a0001c0002t0001g0004 a0001c0002t0001g0014	3	386	0.0078	49	c.657 others(66): Show c.657-2275_657-2227dupAATTTTTGTATTTTTAGTAGAGATGGGG TTTCACCATGTTGGCCAGGCT	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1330485	T T	TTTTGTAT others(42): Show TTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCCGGCTAATG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02572.hp2 others(2): Show HG02145.hp1 HG02257.hp2 HG02572.hp2 HG02723.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0155	5	386	0.0130	49	c.657 others(66): Show c.657-2232_657-2231insCGGCTAATGTTTGTATTTTTAGTAGAGA TGGGGTTTCACCATGTTGGCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAML3_chr4_139711753_140159184	140104370	A A	ATATATAA others(42): Show ATATATAATATATAATATATTATATATTATATAATATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0037 a0001c0015t0001g0037	1	113	0.0088	49	c.468 others(68): Show c.468+48489_468+48490insATATATAATATATATATTATATAATA TATAATATATTATATATTATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140104408	A A	ATATATTA others(42): Show ATATATTATATATTATATAATATATTATATAATATATTATATTATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0008 a0003c0012t0008	a0003c0012t0008g0130 a0003c0012t0008g0130	1	106	0.0094	49	c.468 others(68): Show c.468+48451_468+48452insAATATATAATATAATATATTATATAA TATATTATATAATATATAATATA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN1C1_chr1_25611791_25789450	25767885	T T	TCACACTC others(42): Show TCACACTCCCCTCAAACACACACACACATATTATACACTCCCCTCACATC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00609.hp1 others(93): Show HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18960.hp2 NA18969.hp1 NA18970.hp1 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA18998.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp2 NA19077.hp1 NA19084.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0009g0037 a0001c0001t0011g0040 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0003g0155 a0001c0002t0013g0202 a0001c0005t0001g0249	96	226	0.4248	49	c.114 others(68): Show c.1142-3759_1142-3758insAACACACACACACATATTATACACTC CCCTCACATCCACACTCCCCTCA	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K13_chr3_185358136_185494094	185454744	T T	TCATATAT others(42): Show TCATATATATGATATATGATATATATATCATATATATGAGATATATATGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02809.hp2 HG03130.hp2 others(1): Show HG01175.hp1 HG02809.hp2 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0212 a0001c0001t0010g0217 others(1): Show a0001c0001t0010g0043 a0001c0001t0010g0212 a0001c0001t0010g0217 a0001c0001t0010g0218	4	252	0.0159	49	c.127 others(68): Show c.1278+3360_1278+3361insTATATGATATATATATCATATATATG AGATATATATGACATATATATGA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477916	A A	AGGGGGGG others(42): Show AGGGGGGGAGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	121	0.0083	49	c.525 others(66): Show c.525+8565_525+8566insCCCCCTCCCCCCTCCCCCCTCCCCCTCC CCCCTCCCCCCTCTCCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(42): Show AGAGAGGGAGGGAGGGATGGGGGAGAGAGAGGGGAGAGGGGGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0151 a0002c0003t0018g0151	1	105	0.0095	49	c.525 others(66): Show c.525+8507_525+8508insCCTCTCTCCCCCCTCTCCCCTCTCTCTC CCCCATCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP9_chr4_155337658_155381965	155378002	T T	TATTATAT others(42): Show TATTATATTATTTATATAATATATTATATATATATATATATATTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0099 a0001c0001t0032g0099	1	236	0.0042	49	c.-12 others(60): Show c.-1297_-1296insTTATATAATATATATATATATATATAATATATTA TATAAATAATATAAT	MAP9	ENSG00000164114.19	transcript	ENST00000311277.9	protein_coding		1038		chr4	TogoVar

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