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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ANAPC13_chr3_134472706_134490985	134490772	CATACCTA others(49): Show CATACCTAAAAGCAAATCTACATGGACAAACATACCTTTCTTTCTTAGGT AAAATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	394	0.0025	-56	c.-49 others(67): Show c.-4904_-4849delACATTTTACCTAAGAAAGAAAGGTATGTTTGTCC ATGTAGATTTGCTTTTAGGTAT		ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding					4788		chr3	TogoVar
ANGPT2_chr8_6494632_6568245	6505457	TATATATA others(49): Show TATATATATTCTTTACATATATAGAATATATATATTCTTTATATATGTAT ATATAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0122	1	336	0.0030	-56	c.132 others(75): Show c.1328-2252_1328-2197delTCTATATATACATATATAAAGAATAT ATATATTCTATATATGTAAAGAATATATAT		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8						chr8	TogoVar
ANK3_chr10_60021298_60394875	60226300	ATATGTAA others(49): Show ATATGTAATACTATATATACTATGTATATATACTATATTATATAGTATAT GTAATAC	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0107 a0001c0048t0001g0107	1	192	0.0052	-56	c.897 others(73): Show c.897+8332_897+8387delGTATTACATATACTATATAATATAGTAT ATATACATAGTATATATAGTATTACATA		ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43						chr10	TogoVar
ANKAR_chr2_189669670_189751647	189742865	GACACACA others(49): Show GACACACACACACACACACACACACACACTAGAATTACCTGACACACACA CACACAC	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0195 a0006c0005t0001g0195	1	296	0.0034	-56	c.381 others(73): Show c.3811-381_3811-326delTAGAATTACCTGACACACACACACACAC ACACACACACACACACACACACACACAC		ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO2_chr12_5557655_5950259	5610202	TATAAATA others(49): Show TATAAATACTTATATAAATATATACTTATATAAATATATAAATGCATATA TTTATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02622.hp1 HG03704.hp2 others(1): Show HG00642.hp2 HG02622.hp1 HG03704.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0016 a0011c0017 a0001c0001 a0001c0016 a0011c0017	a0001c0001t0001 a0001c0001t0009 a0001c0016t0002 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0016t0002 a0011c0017t0001	a0001c0001t0001g0103 a0001c0001t0009g0058 a0001c0016t0002g0157 others(1): Show a0001c0001t0001g0103 a0001c0001t0009g0058 a0001c0016t0002g0157 a0011c0017t0001g0095	4	162	0.0247	-56	c.208 others(75): Show c.2087+2398_2087+2453delGTATAAATATATGCATTTATATATTT ATATAAGTATATATTTATATAAGTATTTAT		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24						chr12	TogoVar
ANO2_chr12_5557655_5950259	5610230	TATAAATA others(49): Show TATAAATATATAAATGCATATATTTATACATAAATATATAAATGCATATA TTTATAC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	162	0.0062	-56	c.208 others(75): Show c.2087+2370_2087+2425delGTATAAATATATGCATTTATATATTT ATGTATAAATATATGCATTTATATATTTAT		ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	19/24						chr12	TogoVar
ANO7_chr2_241183677_241230976	241206243	CAGGTGGA others(49): Show CAGGTGGACAGGAGTGCTCCCAGGCTGACACAGGTAGACAGGAGTGCTCC CAGTCTG	C C	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0003 a0005c0019t0003	a0005c0019t0003g0084 a0005c0019t0003g0084	1	396	0.0025	-56	c.980 others(73): Show c.980+1290_981-1274delGGTGGACAGGAGTGCTCCCAGGCTGACA CAGGTAGACAGGAGTGCTCCCAGTCTGA		ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	10/24					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO7_chr2_241183677_241230976	241218007	CTGGGGGC others(49): Show CTGGGGGCATCGGGGGCTCGTAGGGGCGGGGCGGGGGGGCGGCGGGGGCG GGCAGGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03041.hp2 HG01884.hp2 HG02922.hp2 HG03041.hp2	a0009 a0009	a0009c0016 a0009c0017 a0009c0016 a0009c0017	a0009c0016t0008 a0009c0017t0008 a0009c0016t0008 a0009c0017t0008	a0009c0016t0008g0367 a0009c0017t0008g0092 a0009c0017t0008g0097 a0009c0016t0008g0367 a0009c0017t0008g0092 a0009c0017t0008g0097	3	396	0.0076	-56	c.217 others(73): Show c.2178+117_2178+172delTGGGGGCATCGGGGGCTCGTAGGGGCGG GGCGGGGGGGCGGCGGGGGCGGGCAGGG		ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24						chr2	TogoVar
ANTXR1_chr2_69008179_69254327	69096274	AAGGAAGG others(49): Show AAGGAAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19005.hp1 NA19010.hp2 others(1): Show HG03704.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0067 a0002c0002t0001g0074 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0067 a0002c0002t0001g0074 a0002c0002t0001g0075	4	206	0.0194	-56	c.703 others(73): Show c.703+5363_703+5418delAAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGG		ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR1_chr2_69008179_69254327	69096282	AAGGAAGG others(49): Show AAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG02080.hp2 others(6): Show HG01109.hp2 HG01433.hp2 HG02080.hp2 HG02257.hp1 HG03139.hp1 HG03195.hp1 HG04204.hp2 NA19002.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0007 a0001c0003t0015	a0001c0001t0001g0012 a0001c0001t0001g0063 a0001c0001t0001g0142 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0063 a0001c0001t0001g0142 a0001c0001t0004g0102 a0001c0001t0004g0108 a0001c0001t0004g0146 a0001c0001t0004g0201 a0001c0003t0007g0107 a0001c0003t0015g0199	9	206	0.0437	-56	c.703 others(73): Show c.703+5403_703+5458delGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGG		ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA2R_chr5_43034371_43045319	43043826	TATATAAT others(49): Show TATATAATATATTATATATTATATATTATATATAATATATATAATATATT ATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02896.hp2 HG02897.hp2 HG02451.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	296	0.0101	-56	c.-38 others(67): Show c.-3836_-3781delTATATATAATATATTATATATATTATATATAATA TATAATATATAATATATTATAT		ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding					3508		chr5	TogoVar
ANXA2_chr15_60342151_60402986	60389341	GTTCCGAT others(49): Show GTTCCGATGTTTAGAAAATCTCAACTAGAGGCACGGTAACTTTTCATTGT GTTGTTC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	334	0.0030	-56	c.-11 others(73): Show c.-11-3311_-11-3256delGAACAACACAATGAAAAGTTACCGTGCC TCTAGTTGAGATTTTCTAAACATCGGAA		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	1/12						chr15	TogoVar
APBA2_chr15_28880974_29123315	29073804	CTGGCTTC others(49): Show CTGGCTTCTGTCTTCTGGATGATATAAGGAACTAAATAGAGAAAATATAC CTAACCT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	204	0.0049	-56	c.952 others(73): Show c.952-1115_952-1060delGGCTTCTGTCTTCTGGATGATATAAGGA ACTAAATAGAGAAAATATACCTAACCTT		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
APLF_chr2_68462585_68585162	68517224	AAATATAT others(49): Show AAATATATTAATATATGTCATTACTATATAATATATTAATATATGTCATT ACTATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	176	0.0057	-56	c.622 others(73): Show c.622+3616_622+3671delGTCATTACTATATAATATATTAATATAT GTCATTACTATATAATATATTAATATAT		APLF	ENSG00000169621.11	transcript	ENST00000303795.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP39_chr8_144524179_144690846	144601459	CGTGGAGG others(49): Show CGTGGAGGTGTGTGTGCGAGCTCATGTACCTGTGTGTGTGTGCGTGGAGG CATGTGT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	246	0.0041	-56	c.80+ others(71): Show c.80+4020_80+4075delACACATGCCTCCACGCACACACACACAGGT ACATGAGCTCGCACACACACCTCCAC		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11						chr8	TogoVar
ARHGEF11_chr1_156929840_157050742	157035883	ATATATAT others(49): Show ATATATATAGGAATATATATATATGAATCTATATATAGGAATATATATAT ATGAATC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(62): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00735.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp1 HG03942.hp1 HG06807.hp1 NA18944.hp2 NA18948.hp2 NA18960.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18979.hp1 NA18981.hp2 NA18988.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA19085.hp1 NA19090.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0010	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0005c0007 a0009c0012 a0010c0010	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 a0001c0001t0032 a0002c0002t0016 a0002c0004t0005 a0002c0004t0018 a0003c0003t0003 a0003c0003t0031 a0005c0007t0003 a0009c0012t0003 a0010c0010t0003	a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 others(62): Show a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0004g0133 a0001c0001t0007g0148 a0001c0001t0030g0209 a0001c0001t0032g0258 a0002c0002t0016g0235 a0002c0002t0016g0236 a0002c0002t0016g0256 a0002c0002t0016g0257 a0002c0004t0005g0021 a0002c0004t0018g0246 a0002c0004t0018g0249 a0002c0004t0018g0250 a0003c0003t0003g0212 a0003c0003t0003g0214 a0003c0003t0003g0216 a0003c0003t0003g0217 a0003c0003t0003g0218 a0003c0003t0003g0220 a0003c0003t0003g0221 a0003c0003t0003g0222 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0225 a0003c0003t0003g0226 a0003c0003t0003g0227 a0003c0003t0003g0228 a0003c0003t0003g0229 a0003c0003t0003g0230 a0003c0003t0003g0231 a0003c0003t0003g0232 a0003c0003t0003g0233 a0003c0003t0003g0237 a0003c0003t0003g0238 a0003c0003t0003g0239 a0003c0003t0003g0240 a0003c0003t0003g0241 a0003c0003t0003g0243 a0003c0003t0003g0244 a0003c0003t0003g0245 a0003c0003t0003g0247 a0003c0003t0003g0248 a0003c0003t0003g0251 a0003c0003t0003g0252 a0003c0003t0003g0253 a0003c0003t0003g0259 a0003c0003t0003g0260 a0003c0003t0003g0261 a0003c0003t0003g0262 a0003c0003t0003g0263 a0003c0003t0003g0264 a0003c0003t0003g0265 a0003c0003t0003g0266 a0003c0003t0003g0267 a0003c0003t0003g0268 a0003c0003t0003g0269 a0003c0003t0003g0270 a0003c0003t0003g0271 a0003c0003t0031g0215 a0005c0007t0003g0254 a0005c0007t0003g0255 a0009c0012t0003g0242 a0010c0010t0003g0234	65	362	0.1796	-56	c.32+ others(71): Show c.32+8360_32+8415delGATTCATATATATATATTCCTATATATAGA TTCATATATATATATTCCTATATATA		ARHGEF11	ENSG00000132694.19	transcript	ENST00000368194.8	protein_coding	1/40						chr1	TogoVar
ARHGEF28_chr5_73621196_73946990	73741369	GTGTGTGT others(49): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATAT ATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02055.hp2 HG02486.hp2	a0003 a0011 a0003 a0011	a0003c0058 a0011c0014 a0003c0058 a0011c0014	a0003c0058t0001 a0011c0014t0001 a0003c0058t0001 a0011c0014t0001	a0003c0058t0001g0139 a0011c0014t0001g0161 a0003c0058t0001g0139 a0011c0014t0001g0161	2	188	0.0106	-56	c.34- others(71): Show c.34-8466_34-8411delGTGTGTGTGTGTGTGTATATATATATATAT ATATATATATATATATATATATATAT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73741375	GTGTGTGT others(49): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATAT ATATATA	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0098 a0006c0010t0002g0098	1	188	0.0053	-56	c.34- others(71): Show c.34-8460_34-8405delGTGTGTGTGTATATATATATATATATATAT ATATATATATATATATATATATATAT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73806422	ACTATATA others(49): Show ACTATATATAGTATGTATATAGTATATATCTATATATAGTATGTATATAG TATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp1 others(38): Show HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01257.hp2 HG01891.hp1 HG01934.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 NA18906.hp1 NA18962.hp2 NA18968.hp2 NA18978.hp1 NA18995.hp2 NA19007.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012 a0014 a0017 a0018 a0028 a0036	a0001c0021 a0001c0028 a0002c0002 others(19): Show a0001c0021 a0001c0028 a0002c0002 a0003c0005 a0003c0007 a0003c0049 a0004c0004 a0004c0017 a0004c0018 a0004c0057 a0005c0022 a0005c0024 a0005c0061 a0008c0011 a0010c0020 a0011c0014 a0012c0063 a0014c0062 a0017c0027 a0018c0019 a0028c0076 a0036c0074	a0001c0021t0008 a0001c0028t0001 a0002c0002t0002 others(28): Show a0001c0021t0008 a0001c0028t0001 a0002c0002t0002 a0003c0005t0001 a0003c0005t0002 a0003c0005t0006 a0003c0007t0001 a0003c0007t0011 a0003c0049t0001 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0017t0006 a0004c0018t0001 a0004c0057t0003 a0005c0022t0001 a0005c0022t0005 a0005c0024t0001 a0005c0061t0002 a0008c0011t0002 a0010c0020t0002 a0011c0014t0001 a0011c0014t0003 a0012c0063t0001 a0014c0062t0007 a0017c0027t0001 a0017c0027t0007 a0018c0019t0001 a0018c0019t0002 a0028c0076t0001 a0036c0074t0001	a0001c0021t0008g0102 a0001c0028t0001g0146 a0001c0028t0001g0181 others(38): Show a0001c0021t0008g0102 a0001c0028t0001g0146 a0001c0028t0001g0181 a0002c0002t0002g0133 a0003c0005t0001g0029 a0003c0005t0001g0075 a0003c0005t0002g0002 a0003c0005t0002g0016 a0003c0005t0002g0081 a0003c0005t0002g0084 a0003c0005t0006g0173 a0003c0007t0001g0045 a0003c0007t0001g0184 a0003c0007t0001g0186 a0003c0007t0011g0148 a0003c0049t0001g0021 a0004c0004t0001g0145 a0004c0004t0001g0170 a0004c0004t0001g0187 a0004c0004t0001g0188 a0004c0004t0002g0160 a0004c0004t0004g0112 a0004c0017t0006g0101 a0004c0018t0001g0179 a0004c0057t0003g0107 a0005c0022t0001g0120 a0005c0022t0005g0119 a0005c0024t0001g0054 a0005c0061t0002g0001 a0008c0011t0002g0142 a0010c0020t0002g0035 a0011c0014t0001g0161 a0011c0014t0003g0149 a0012c0063t0001g0152 a0014c0062t0007g0171 a0017c0027t0001g0080 a0017c0027t0007g0168 a0018c0019t0001g0009 a0018c0019t0002g0010 a0028c0076t0001g0125 a0036c0074t0001g0177	41	188	0.2181	-56	c.102 others(77): Show c.1024+11153_1024+11208delGTATGTATATAGTATATATCTATA TATAGTATGTATATAGTATATATCTATATATA		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	9/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF7_chr13_111110310_111310732	111221138	CATATATA others(49): Show CATATATATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATAT	C C	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	274	0.0037	-56	c.670 others(73): Show c.670+3263_670+3318delATATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATAT		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221143	ATATATAG others(49): Show ATATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02135.hp2 HG02970.hp1 others(5): Show HG00280.hp2 HG02135.hp2 HG02970.hp1 HG04115.hp1 NA18968.hp1 NA18971.hp1 NA19066.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0133 a0001c0001t0004g0134 others(5): Show a0001c0001t0004g0122 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0239 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0248 a0001c0001t0004g0254	8	274	0.0292	-56	c.670 others(73): Show c.670+3382_670+3437delGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATA		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221546	CATATCTA others(49): Show CATATCTATATATCTATATATATAGATACATATCTATATATATCTATATA TAGATAT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	274	0.0037	-56	c.670 others(73): Show c.670+3673_670+3728delATATATCTATATATATAGATACATATCT ATATATATCTATATATAGATATATATCT		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr13	TogoVar
ARMCX3_chrX_101618151_101632843	101630634	CCATCCCG others(49): Show CCATCCCGTGGTAACTACCATTCTACTCTACTTCTATGAATTCGACTTTT TAAGATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	299	0.0033	-56	c.45 others(67): Show c.4516_*4571delCATCCCGTGGTAACTACCATTCTACTCTACTTCT ATGAATTCGACTTTTTAAGATT		ARMCX3	ENSG00000102401.20	transcript	ENST00000471229.7	protein_coding					2792		chrX	TogoVar
ARPC1B_chr7_99369730_99399816	99397946	GCTCTGTC others(49): Show GCTCTGTCTTCCCGGCCAAGTGCATTTTCATGTAACGCTCTTTTGCCTTC TGCTTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	340	0.0029	-56	c.34 others(67): Show c.3458_*3513delCTCTGTCTTCCCGGCCAAGTGCATTTTCATGTAA CGCTCTTTTGCCTTCTGCTTCT		ARPC1B	ENSG00000130429.16	transcript	ENST00000646101.2	protein_coding					3131		chr7	TogoVar
ARSG_chr17_68286495_68425814	68331176	GGTTTCTT others(49): Show GGTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03098.hp1 HG03195.hp2 HG02717.hp1 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0001 a0001c0013t0001 a0001c0003t0001 a0001c0013t0001	a0001c0003t0001g0005 a0001c0003t0001g0174 a0001c0013t0001g0035 a0001c0003t0001g0005 a0001c0003t0001g0174 a0001c0013t0001g0035	3	304	0.0099	-56	c.219 others(75): Show c.219-12395_219-12340delCTTTCTTTCTTTCTTTCTTTCTTTGT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ASAP2_chr2_9201812_9410678	9406031	GTGTCACT others(49): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01891.hp1 HG02698.hp1 others(3): Show HG01256.hp1 HG01891.hp1 HG02698.hp1 HG03041.hp1 HG04199.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0027 a0001c0002t0002g0129 a0001c0002t0002g0137 others(3): Show a0001c0002t0002g0027 a0001c0002t0002g0129 a0001c0002t0002g0137 a0001c0002t0002g0177 a0002c0001t0001g0061 a0002c0001t0001g0122	6	210	0.0286	-56	c.27 others(67): Show c.2705_*2760delTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAGTGTGTGTT		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					354		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406116	CGTCTTCC others(49): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02165.hp1 HG04115.hp2 others(1): Show HG00741.hp1 HG02165.hp1 HG04115.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0055 a0002c0001t0001g0076 a0002c0001t0001g0083 others(1): Show a0001c0002t0002g0055 a0002c0001t0001g0076 a0002c0001t0001g0083 a0002c0001t0001g0159	4	210	0.0191	-56	c.27 others(67): Show c.2790_*2845delGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					439		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406284	CGTCTTCC others(49): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0077 a0002c0001t0001g0077	1	210	0.0048	-56	c.29 others(67): Show c.2958_*3013delGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					607		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406340	AGTCTTCC others(49): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0020 a0001c0003t0004g0020	1	210	0.0048	-56	c.30 others(67): Show c.3014_*3069delGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTC		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					663		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406396	CGTCTTCC others(49): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG02083.hp1 others(2): Show HG00597.hp2 HG00741.hp1 HG02083.hp1 HG02809.hp2 NA18953.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0006 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0003t0006 a0002c0001t0001 a0002c0001t0003	a0001c0002t0002g0202 a0001c0003t0006g0158 a0002c0001t0001g0082 others(2): Show a0001c0002t0002g0202 a0001c0003t0006g0158 a0002c0001t0001g0082 a0002c0001t0001g0159 a0002c0001t0003g0099	5	210	0.0238	-56	c.30 others(67): Show c.3070_*3125delGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTA		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					719		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406452	AGTCTTCC others(49): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03654.hp1 HG03239.hp2 HG03654.hp1	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0001 a0002c0005t0001 a0002c0001t0001 a0002c0005t0001	a0002c0001t0001g0140 a0002c0005t0001g0131 a0002c0001t0001g0140 a0002c0005t0001g0131	2	210	0.0095	-56	c.31 others(67): Show c.3126_*3181delGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTC		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					775		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406505	TCTCGTCT others(49): Show TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG03540.hp1 others(1): Show HG02451.hp2 HG03453.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0005 a0001c0002t0001 a0001c0004t0005	a0001c0002t0001g0097 a0001c0004t0005g0010 a0001c0004t0005g0138 others(1): Show a0001c0002t0001g0097 a0001c0004t0005g0010 a0001c0004t0005g0138 a0001c0004t0005g0205	4	210	0.0191	-56	c.31 others(67): Show c.3179_*3234delCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACAC		ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding					828		chr2	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(49): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(150): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0009 a0011 a0012	a0001c0001 a0001c0011 a0002c0002 others(6): Show a0001c0001 a0001c0011 a0002c0002 a0002c0019 a0005c0005 a0006c0006 a0009c0009 a0011c0012 a0012c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0011t0009 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0019t0002 a0005c0005t0002 a0006c0006t0002 a0009c0009t0002 a0011c0012t0003 a0012c0010t0002	a0001c0001t0002g0012 a0001c0001t0002g0126 a0001c0001t0002g0127 others(132): Show a0001c0001t0002g0012 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0009g0346 a0001c0001t0009g0347 a0001c0001t0014g0284 a0001c0011t0009g0348 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0003g0324 a0002c0002t0010g0102 a0002c0002t0010g0111 a0002c0019t0002g0072 a0005c0005t0002g0005 a0005c0005t0002g0113 a0005c0005t0002g0114 a0005c0005t0002g0115 a0005c0005t0002g0116 a0005c0005t0002g0121 a0005c0005t0002g0122 a0006c0006t0002g0117 a0006c0006t0002g0118 a0006c0006t0002g0119 a0006c0006t0002g0120 a0009c0009t0002g0123 a0009c0009t0002g0124 a0011c0012t0003g0345 a0012c0010t0002g0125	153	372	0.4113	-56	c.542 others(73): Show c.542-2386_542-2331delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGT		ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19						chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608546	CTTTATAT others(49): Show CTTTATATATATATACTTTATATATATATTTTATATATATATACTTTATA TATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	314	0.0032	-56	c.478 others(75): Show c.4786-1514_4786-1459delATATATATATAAAGTATATATATATA AAATATATATATAAAGTATATATATATAAA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASTN1_chr1_176856067_177169712	177149542	AGTATATA others(49): Show AGTATATATATAGTAAATATATATACACTGTATATATATAGTAAATATAT ATACACT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG04115.hp2 HG02109.hp1 HG04115.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0004 a0001c0006t0002 a0001c0005t0004 a0001c0006t0002	a0001c0005t0004g0085 a0001c0006t0002g0037 a0001c0005t0004g0085 a0001c0006t0002g0037	2	112	0.0179	-56	c.283 others(75): Show c.283+14796_283+14851delAGTGTATATATATTTACTATATATAT ACAGTGTATATATATTTACTATATATATAC		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22						chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149662	TATAGTAA others(49): Show TATAGTAAATATATATACACTGTATATACATAGTAAATATATATACACTG TATATAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0073 a0001c0003t0019g0073	1	112	0.0089	-56	c.283 others(75): Show c.283+14676_283+14731delGTATATACAGTGTATATATATTTACT ATGTATATACAGTGTATATATATTTACTAT		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22						chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149765	CTGTATAT others(49): Show CTGTATATACATAGTAAATATATATACAGTGTATATACATAGTAAATATA TATACAG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02630.hp1 HG01993.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0112 a0001c0002t0007g0069 a0001c0001t0001g0112 a0001c0002t0007g0069	2	112	0.0179	-56	c.283 others(75): Show c.283+14573_283+14628delCTGTATATATATTTACTATGTATATA CACTGTATATATATTTACTATGTATATACA		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22						chr1	TogoVar
ATG2B_chr14_96274195_96368341	96308201	TATATATA others(49): Show TATATATATAAATACATAAATATATATATACATATATATATATATATATA TACACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19007.hp1 NA19009.hp1 HG02717.hp1 NA19007.hp1 NA19009.hp1	a0004 a0022 a0004 a0022	a0004c0006 a0022c0027 a0004c0006 a0022c0027	a0004c0006t0010 a0022c0027t0008 a0004c0006t0010 a0022c0027t0008	a0004c0006t0010g0334 a0004c0006t0010g0337 a0022c0027t0008g0079 a0004c0006t0010g0334 a0004c0006t0010g0337 a0022c0027t0008g0079	3	356	0.0084	-56	c.430 others(75): Show c.4303+1196_4303+1251delGTGTGTATATATATATATATATATAT GTATATATATATTTATGTATTTATATATAT		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG9B_chr7_151010151_151029494	151018672	CCACGGCT others(49): Show CCACGGCTAGCACGTCCTCGTCGTAGACGGTGAGCACAAGCAGCGCGGCG AAGAGTG	C C	frameshift_variant frameshift_variant	HIGH	HG03516.hp1 HG03516.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0068 a0023c0027t0001g0068	1	466	0.0022	-56	c.161 others(65): Show c.1610_1665delCACTCTTCGCCGCGCTGCTTGTGCTCACCGTCTACG ACGAGGACGTGCTAGCCGTG	p.Ala others(5): Show p.Ala537fs	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	6/14	1736/3423	1610/2775	537/924			chr7	TogoVar
ATP10A_chr15_25673712_25868327	25757844	CCACCTGC others(49): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCTAT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0269 a0004c0004t0001g0269	1	300	0.0033	-56	c.655 others(75): Show c.655-21759_655-21704delATAGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757956	CCACCTGC others(49): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCTAT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	300	0.0033	-56	c.655 others(75): Show c.655-21871_655-21816delATAGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758320	CCACCTGC others(49): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGATCCACCCTAACTCA TTCCAAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18985.hp1 HG02559.hp2 NA18985.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0006 a0003c0003t0001g0035 a0002c0002t0001g0006 a0003c0003t0001g0035	2	300	0.0067	-56	c.655 others(75): Show c.655-22235_655-22180delATTGGAATGAGTTAGGGTGGATCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758697	CCTAACTC others(49): Show CCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01517.hp1 HG01169.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0087 a0001c0001t0001g0088	2	300	0.0067	-56	c.654 others(75): Show c.654+22266_654+22321delTTAGGGTGGAGCAGGTGGTCGGAATG AGGGTGGAGCAGGTGATCGGAATGAGTTAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758725	CCTCATTC others(49): Show CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02148.hp1 HG02630.hp2 others(7): Show HG00558.hp2 HG02148.hp1 HG02630.hp2 HG02735.hp2 HG03654.hp1 NA18944.hp2 NA18984.hp1 NA18988.hp2 NA19004.hp1 NA19081.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0002 a0005c0005 others(1): Show a0001c0001 a0002c0002 a0005c0005 a0008c0006	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0008c0006t0001	a0001c0001t0001g0063 a0001c0001t0001g0138 a0001c0001t0001g0158 others(7): Show a0001c0001t0001g0063 a0001c0001t0001g0138 a0001c0001t0001g0158 a0002c0002t0001g0147 a0002c0002t0001g0238 a0005c0005t0001g0237 a0005c0005t0001g0239 a0005c0005t0001g0240 a0005c0005t0001g0258 a0008c0006t0001g0180	10	300	0.0333	-56	c.654 others(75): Show c.654+22238_654+22293delTTAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAG		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653443	CATAGGTA others(49): Show CATAGGTAGTATATATACATATGTACATACATACATAGGTAGTATATATA CATATGT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	236	0.0042	-56	c.676 others(73): Show c.676-4243_676-4188delACATATGTATATATACTACCTATGTATG TATGTACATATGTATATATACTACCTAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
ATP12A_chr13_24675408_24717472	24681959	GGTGTGTG others(49): Show GGTGTGTGGTGTATGGTGTGTGGTGTGTGTGTATGGTGTGTGGTGTGTGT ATATGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00735.hp1 others(20): Show HG00323.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01123.hp1 HG01257.hp2 HG02055.hp1 HG02559.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0006 a0001c0010 a0003c0012 others(2): Show a0001c0006 a0001c0010 a0003c0012 a0004c0009 a0007c0019	a0001c0006t0001 a0001c0010t0001 a0003c0012t0001 others(2): Show a0001c0006t0001 a0001c0010t0001 a0003c0012t0001 a0004c0009t0001 a0007c0019t0001	a0001c0006t0001g0021 a0001c0006t0001g0152 a0001c0006t0001g0153 others(17): Show a0001c0006t0001g0021 a0001c0006t0001g0152 a0001c0006t0001g0153 a0001c0006t0001g0154 a0001c0006t0001g0155 a0001c0006t0001g0156 a0001c0006t0001g0157 a0001c0006t0001g0158 a0001c0006t0001g0162 a0001c0006t0001g0163 a0001c0006t0001g0164 a0001c0010t0001g0148 a0001c0010t0001g0151 a0001c0010t0001g0160 a0003c0012t0001g0149 a0003c0012t0001g0150 a0004c0009t0001g0019 a0004c0009t0001g0020 a0004c0009t0001g0159 a0007c0019t0001g0161	23	382	0.0602	-56	c.168 others(71): Show c.168+246_168+301delGGTGTATGGTGTGTGGTGTGTGTGTATGGT GTGTGGTGTGTGTATATGGTGTGTGT		ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A4_chr3_193393967_193559895	193541344	TGATCACA others(49): Show TGATCACAGATTATCTATCTGTGATTATCGATCACAGATTATCTATCTGT GATTATC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG01099.hp1 others(19): Show HG00423.hp2 HG01081.hp1 HG01099.hp1 HG01256.hp2 HG01257.hp2 HG01978.hp1 HG02015.hp2 HG02083.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG03579.hp2 NA18942.hp1 NA18975.hp2 NA19062.hp1 NA19074.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0010 a0002c0003t0011 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0006	a0001c0001t0002g0288 a0001c0001t0003g0301 a0001c0004t0001g0286 others(19): Show a0001c0001t0002g0288 a0001c0001t0003g0301 a0001c0004t0001g0286 a0002c0002t0001g0279 a0002c0002t0001g0285 a0002c0002t0003g0275 a0002c0003t0001g0262 a0002c0003t0002g0260 a0002c0003t0002g0266 a0002c0003t0006g0265 a0002c0003t0010g0263 a0002c0003t0010g0264 a0002c0003t0011g0261 a0003c0005t0001g0280 a0003c0005t0001g0281 a0003c0005t0001g0287 a0003c0005t0001g0290 a0003c0005t0002g0278 a0003c0005t0003g0277 a0003c0005t0003g0289 a0003c0005t0003g0291 a0003c0005t0006g0292	22	302	0.0729	-56	c.60+ others(73): Show c.60+13340_60+13395delGATAATCACAGATAGATAATCTGTGATC GATAATCACAGATAGATAATCTGTGATC		ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29						chr3	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546463	TATATATA others(49): Show TATATATATATGTGTATATATATATATATATATATATATATATATATATG TATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 NA18972.hp2 NA18986.hp2 HG00323.hp1 NA18972.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0215 a0001c0001t0001g0238 a0001c0001t0005g0125 a0001c0001t0001g0215 a0001c0001t0001g0238 a0001c0001t0005g0125	3	410	0.0073	-56	c.-46 others(67): Show c.-4676_-4621delGTATATACATATATATATATATATATATATATAT ATATATATACACATATATATAT		ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding					3887		chr2	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128864765	GCCGCCAC others(49): Show GCCGCCACATCCAGCCATTTTTTTTTTGTGTGTATATATATAGATAGATA GATAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0001	a0005c0003t0001g0001 a0005c0003t0001g0001	1	442	0.0023	-56	c.-16 others(67): Show c.-1644_-1589delCCGCCACATCCAGCCATTTTTTTTTTGTGTGTAT ATATATAGATAGATAGATAGAT		ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding					1564		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128864765	GCCGCCAC others(49): Show GCCGCCACATCCAGCCATTTTTTTTTTGTGTGTATATATATAGATAGATA GATAGAT	G G	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	442	0.0023	-56	c.159 others(71): Show c.159-588_159-533delTTTGTGTGTATATATATAGATAGATAGATA GATCCGCCACATCCAGCCATTTTTTT		ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr7	TogoVar

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