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
NGEF_chr2_232873701_233018256	232900289	CTCAGTCA others(95): Show CTCAGTCACTCATATACACGTTCACTCACATTCACTCACACACGCTCTCA CAGTCACTCATACACGTTCACTCACATTCACTTACACACACACGCTCTCA CAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(36): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG02056.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02559.hp1 HG02738.hp2 HG02922.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04204.hp1 NA18954.hp2 NA18955.hp1 NA18962.hp1 NA18964.hp1 NA19056.hp2 NA19068.hp2 NA19070.hp1 NA19082.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0009	a0001c0001t0002 a0001c0002t0021 a0001c0002t0034 others(4): Show a0001c0001t0002 a0001c0002t0021 a0001c0002t0034 a0001c0003t0002 a0001c0003t0005 a0001c0003t0027 a0002c0009t0005	a0001c0001t0002g0287 a0001c0002t0021g0010 a0001c0002t0034g0359 others(36): Show a0001c0001t0002g0287 a0001c0002t0021g0010 a0001c0002t0034g0359 a0001c0003t0002g0054 a0001c0003t0002g0069 a0001c0003t0002g0150 a0001c0003t0002g0209 a0001c0003t0002g0265 a0001c0003t0005g0037 a0001c0003t0005g0060 a0001c0003t0005g0061 a0001c0003t0005g0063 a0001c0003t0005g0071 a0001c0003t0005g0079 a0001c0003t0005g0096 a0001c0003t0005g0110 a0001c0003t0005g0123 a0001c0003t0005g0176 a0001c0003t0005g0198 a0001c0003t0005g0212 a0001c0003t0005g0230 a0001c0003t0005g0236 a0001c0003t0005g0244 a0001c0003t0005g0245 a0001c0003t0005g0263 a0001c0003t0005g0272 a0001c0003t0005g0275 a0001c0003t0005g0286 a0001c0003t0005g0294 a0001c0003t0005g0303 a0001c0003t0005g0340 a0001c0003t0027g0140 a0002c0009t0005g0084 a0002c0009t0005g0085 a0002c0009t0005g0090 a0002c0009t0005g0091 a0002c0009t0005g0143 a0002c0009t0005g0218 a0002c0009t0005g0298	39	352	0.1108	-102	c.829 others(17): Show c.829-5475_829-5374del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993454	CCTCTCTC others(95): Show CCTCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCCTC CTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCC CCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02109.hp1 HG02109.hp2 others(7): Show HG01346.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02717.hp2 HG02886.hp2 NA19043.hp1 NA19060.hp2 NA19084.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0008 a0003c0004 others(1): Show a0001c0001 a0001c0008 a0003c0004 a0005c0005	a0001c0001t0001 a0001c0008t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0003c0004t0001 a0005c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0074 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0008t0001g0047 a0003c0004t0001g0199 a0003c0004t0001g0200 a0005c0005t0001g0167 a0005c0005t0001g0168 a0005c0005t0001g0173	10	347	0.0288	-102	c.55 others(11): Show c.5542_*5643del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4826		chr19	TogoVar
NRG1_chr8_32543311_32779046	32626172	TGTATGCA others(95): Show TGTATGCATATTTCTTGGGAAGTGGGAGGTGGGAGGTGTAATGATTGGGG GAGATAAATAGGAAATAGTCCTTGGGCTGAAGGAGTTCGCAGCAAAGTAA AAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp1 HG02897.hp1 others(2): Show HG02630.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp2 HG06807.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0098 a0008c0008t0005 a0002c0002t0098 a0008c0008t0005	a0002c0002t0098g0108 a0008c0008t0005g0120 a0008c0008t0005g0121 others(2): Show a0002c0002t0098g0108 a0008c0008t0005g0120 a0008c0008t0005g0121 a0008c0008t0005g0122 a0008c0008t0005g0123	5	242	0.0207	-102	c.502 others(17): Show c.502+9290_502+9391del	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
ODAD3_chr19_11415605_11440121	11424597	ATATATAT others(95): Show ATATATATGTGTATATATACCTATGTGTATATATGTATATATGTGTATAT ATACCTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATAT ATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02922.hp2 HG01891.hp1 HG02145.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0271 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0271	3	174	0.0172	-102	c.964 others(15): Show c.964-670_964-569del	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OR4F5_chr1_60419_76585	66325	TAATATAT others(95): Show TAATATATATTTTATTATATAATATAATATATATTATATAAATATAATAT ATAAATTATATAATATAATATATATTATATAATATAATATATTTTATTAT ATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02145.hp1 HG00099.hp2 HG02145.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0011 a0005c0005t0001 a0005c0005t0011	a0005c0005t0001g0016 a0005c0005t0011g0016 a0005c0005t0001g0016 a0005c0005t0011g0016	2	213	0.0094	-102	c.9+7 others(11): Show c.9+763_9+864del	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR6J1_chr14_22625929_22649352	22636225	GCCCTCTC others(95): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0053 a0002c0002t0035g0053	1	301	0.0033	-102	c.-27 others(17): Show c.-27-1489_-27-1388del	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OSTF1_chr9_75083514_75152265	75128456	CATATATA others(95): Show CATATATATATATATTTTGTCCATATATATATATATATATTTTGTCCATA TATATATATATATATTTTGTCCATATATATATATATATATTTTGTCCATA TAT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0025 a0001c0003t0008g0025	1	264	0.0038	-102	c.132 others(15): Show c.132+852_132+953del	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAH_chr12_102831889_102922244	102868084	GTGTGTAT others(95): Show GTGTGTATATATATATATATACACATATATATACATATATGTGTATATAT ATATATATATATATATATATACACATATATATACATATATGTGTATATAT ATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG00642.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0011 a0001c0001t0003 a0001c0002t0011	a0001c0001t0003g0228 a0001c0002t0011g0034 a0001c0001t0003g0228 a0001c0002t0011g0034	2	243	0.0082	-102	c.442 others(17): Show c.442-1523_442-1422del	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102868086	GTGTATAT others(95): Show GTGTATATATATATATATACACATATATATACATATATGTGTATATATAT ATATATATATATATATATACACATATATATACATATATGTGTATATATAT ATA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0158 a0001c0006t0016g0158	1	290	0.0034	-102	c.442 others(17): Show c.442-1525_442-1424del	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PCDH15_chr10_53797771_54806231	54622592	AATATATA others(95): Show AATATATAATATATATAATTATATATAATATATATAATATATATTATATA ATTATATATATACTATATAATATATATTATATATAATATATATTATATAA TAT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0051 a0006c0006t0002g0051	1	96	0.0104	-102	c.91+ others(17): Show c.91+41478_91+41579del	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	2/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54622592	AATATATA others(95): Show AATATATAATATATATAATTATATATAATATATATAATATATATTATATA ATTATATATATACTATATAATATATATTATATATAATATATATTATATAA TAT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0006 a0006	a0006c0041 a0006c0041	a0006c0041t0001 a0006c0041t0001	a0006c0041t0001g0048 a0006c0041t0001g0048	1	88	0.0114	-102	c.91+ others(17): Show c.91+41478_91+41579del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	2/32			chr10	TogoVar
PCGF3_chr4_700832_775089	721834	TCTGCATG others(95): Show TCTGCATGTGGGTGTGGAAAGAGGCCTGTGGGAGACTGGTGGATGGGTGG CTCTGCGTGTGGGCGTGGAGAGAGGCCTGTGGGAGGTGGGTGGACATGTG TCG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01891.hp1 HG02257.hp2 others(3): Show HG01069.hp1 HG01891.hp1 HG02257.hp2 HG02451.hp1 HG02723.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0019 a0001c0001t0036 a0001c0001t0011 a0001c0001t0019 a0001c0001t0036	a0001c0001t0011g0080 a0001c0001t0011g0081 a0001c0001t0011g0083 others(3): Show a0001c0001t0011g0080 a0001c0001t0011g0081 a0001c0001t0011g0083 a0001c0001t0011g0084 a0001c0001t0019g0354 a0001c0001t0036g0082	6	364	0.0165	-102	c.-18 others(19): Show c.-189-8779_-189-8678del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	736850	GCGGTGTC others(95): Show GCGGTGTCCCCTGAGCGCACGGGACGCGGGGAACCTGGGGTGTCTGCAGG GACGGTGTCCCCTGAGCGCACGGGACGCGGGGAACCTGGGGTGTCTGCAG GGA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18963.hp2 NA18966.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0040g0192 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0040g0192	3	29	0.1034	-102	c.207 others(15): Show c.207-386_207-285del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCNT_chr21_46319156_46450769	46383983	ATGTTGTA others(95): Show ATGTTGTATATTCAGTGGCGGAAGCGCATTCACAGTGTTGTATATTCAGT GATGGAAGCACATTCACAGTGCTGTGCATTCAGCAGCGGAAGCGCATTCA CAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG03041.hp2 others(3): Show HG01884.hp1 HG02630.hp2 HG03041.hp2 HG03453.hp1 NA19240.hp2 NA21309.hp1	a0006 a0033 a0047 a0006 a0033 a0047	a0006c0016 a0033c0073 a0047c0070 a0006c0016 a0033c0073 a0047c0070	a0006c0016t0001 a0033c0073t0001 a0047c0070t0001 a0006c0016t0001 a0033c0073t0001 a0047c0070t0001	a0006c0016t0001g0113 a0006c0016t0001g0114 a0006c0016t0001g0115 others(3): Show a0006c0016t0001g0113 a0006c0016t0001g0114 a0006c0016t0001g0115 a0006c0016t0001g0117 a0033c0073t0001g0112 a0047c0070t0001g0116	6	328	0.0183	-102	c.331 others(19): Show c.3313-1748_3313-1647del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	16/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCSK6_chr15_101298933_101494707	101311861	CCCCTCAC others(95): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC ACA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02559.hp1 others(6): Show HG01884.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010 a0002c0008 a0005c0049	a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 others(4): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0001c0007t0002 a0001c0010t0003 a0002c0008t0002 a0005c0049t0015	a0001c0001t0002g0243 a0001c0001t0002g0293 a0001c0003t0002g0040 others(6): Show a0001c0001t0002g0243 a0001c0001t0002g0293 a0001c0003t0002g0040 a0001c0003t0002g0061 a0001c0003t0003g0099 a0001c0007t0002g0066 a0001c0010t0003g0292 a0002c0008t0002g0016 a0005c0049t0015g0145	9	317	0.0284	-102	c.269 others(19): Show c.2699+1413_2699+1514del	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDGFD_chr11_103902189_104169147	104078805	TTAGGCAT others(95): Show TTAGGCATTCAGCTATTTACCAATGAGGGAAGAAAGATTATACCATATTA TTTATTTACTTTATATACTTTATATATGTATCCTAAATATATGCAAGATT TAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(106): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA18953.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18985.hp1 NA18990.hp1 NA18992.hp1 NA19002.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0006t0002 a0003c0005t0002	a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0038 others(106): Show a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0002g0193 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0074 a0001c0001t0003g0082 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0003g0120 a0001c0001t0003g0123 a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0152 a0001c0001t0007g0122 a0001c0001t0009g0124 a0001c0001t0009g0154 a0001c0001t0009g0192 a0001c0001t0010g0067 a0001c0001t0010g0129 a0001c0001t0015g0165 a0001c0001t0019g0153 a0001c0001t0020g0197 a0001c0001t0021g0199 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0014 a0001c0002t0001g0028 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0066 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0105 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0136 a0001c0002t0001g0144 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0179 a0001c0002t0001g0184 a0001c0002t0001g0190 a0001c0002t0004g0026 a0001c0002t0004g0034 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0096 a0001c0002t0004g0173 a0001c0002t0005g0002 a0001c0002t0005g0025 a0001c0002t0005g0094 a0001c0002t0005g0108 a0001c0002t0005g0180 a0001c0002t0005g0188 a0001c0002t0005g0191 a0001c0002t0006g0088 a0001c0002t0008g0103 a0001c0002t0012g0189 a0001c0002t0013g0069 a0001c0002t0013g0071 a0001c0002t0014g0198 a0001c0002t0014g0200 a0001c0006t0002g0158 a0003c0005t0002g0187	109	198	0.5505	-102	c.125 others(19): Show c.125-78652_125-78551del	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDZRN4_chr12_41183320_41579745	41402414	ATATATAT others(95): Show ATATATATATACACACACAGTGTATATATATATATATACACACTCTGTGT GTATATATATATATACACACAGGGTGTATATATATATATATATACGCTGT GTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02622.hp2 HG03139.hp2 others(1): Show HG00741.hp2 HG02622.hp2 HG03139.hp2 HG03225.hp2	a0004 a0005 a0015 a0004 a0005 a0015	a0004c0020 a0005c0008 a0005c0028 others(1): Show a0004c0020 a0005c0008 a0005c0028 a0015c0039	a0004c0020t0001 a0005c0008t0001 a0005c0028t0001 others(1): Show a0004c0020t0001 a0005c0008t0001 a0005c0028t0001 a0015c0039t0001	a0004c0020t0001g0004 a0005c0008t0001g0161 a0005c0028t0001g0089 others(1): Show a0004c0020t0001g0004 a0005c0008t0001g0161 a0005c0028t0001g0089 a0015c0039t0001g0043	4	206	0.0194	-102	c.844 others(21): Show c.844-104031_844-103930del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGC_chr6_41731711_41752397	41738149	TATATATA others(95): Show TATATATACATATATATGCATATATATATACATATATATATGCATATATA TATGCATATATATATGCATATATATATGCATATATATATGTATATATATA TGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	462	0.0022	-102	c.916 others(15): Show c.916-423_916-322del	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13231085	AAGAAGGA others(95): Show AAGAAGGAAGGAAGGGAAAAGAAAGAAGGAAAGAGAGAAAGAAAGAAGGA AAGAGAAAGAAAGAAGGAAAGAGAAAGAGCGAAAGAGGAGGAGGGAGGGA GGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02300.hp1 HG02965.hp2 HG02280.hp2 HG02300.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0002g0047 a0001c0001t0003g0066 a0001c0001t0001g0061 a0001c0001t0002g0047 a0001c0001t0003g0066	3	107	0.0280	-102	c.139 others(17): Show c.1391+895_1391+996del	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHLPP1_chr18_62710541_62985433	62804860	ATTATACA others(95): Show ATTATACATATACAGTATAATATACACTGCATATATTATACATATACAGT ATAATATACACTGCATAGGTTATACATATACAGTATAATATACACTGCAT AGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0019 a0014c0024t0019	a0014c0024t0019g0060 a0014c0024t0019g0060	1	190	0.0053	-102	c.157 others(21): Show c.1577-25142_1577-25041del	PHLPP1	ENSG00000081913.14	transcript	ENST00000262719.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
PIAS4_chr19_4002736_4044386	4011790	TGTGGGGT others(95): Show TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTG TGG	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19060.hp1 NA18944.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	332	0.0060	-102	c.28- others(15): Show c.28-1131_28-1030del	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLCXD1_chrX_276381_308356	298201	TCTCCCAC others(95): Show TCTCCCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGT CTATCACATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTC TCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0048 a0001c0003t0017g0048	1	170	0.0059	-102	c.734 others(15): Show c.734-894_734-793del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXDC2_chr10_19811432_20294856	20126613	AACACACA others(95): Show AACACACACGTTATATATGTATATATAACACACACGTTATATATGTATAT ATAACACACGTTATATATGTATATATAACACACGTTATATATGTATATAT AAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00639.hp2 others(37): Show HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0037 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0001t0058 a0001c0001t0069 a0001c0001t0070 a0001c0001t0075 a0001c0001t0098 a0001c0001t0101 a0001c0001t0117 a0001c0001t0122 a0001c0001t0123 a0001c0001t0125 a0001c0001t0127 a0002c0002t0005 a0002c0002t0020 a0002c0002t0110 a0003c0003t0018 a0003c0003t0106	a0001c0001t0001g0009 a0001c0001t0001g0132 a0001c0001t0001g0133 others(37): Show a0001c0001t0001g0009 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0003g0161 a0001c0001t0003g0166 a0001c0001t0010g0131 a0001c0001t0013g0088 a0001c0001t0013g0089 a0001c0001t0014g0085 a0001c0001t0015g0162 a0001c0001t0016g0033 a0001c0001t0016g0034 a0001c0001t0017g0106 a0001c0001t0021g0120 a0001c0001t0022g0122 a0001c0001t0029g0002 a0001c0001t0030g0001 a0001c0001t0033g0127 a0001c0001t0037g0011 a0001c0001t0039g0057 a0001c0001t0050g0125 a0001c0001t0051g0179 a0001c0001t0058g0041 a0001c0001t0069g0167 a0001c0001t0070g0005 a0001c0001t0075g0138 a0001c0001t0098g0118 a0001c0001t0101g0130 a0001c0001t0117g0060 a0001c0001t0122g0051 a0001c0001t0123g0046 a0001c0001t0125g0055 a0001c0001t0127g0169 a0002c0002t0005g0083 a0002c0002t0005g0086 a0002c0002t0020g0121 a0002c0002t0110g0071 a0003c0003t0018g0098 a0003c0003t0106g0036	40	162	0.2469	-102	c.542 others(19): Show c.542-16675_542-16574del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126639	AACACACA others(95): Show AACACACACGTTATATATGTATATATAACACACGTTATATATGTATATAT AACACACGTTATATATGTATATATAACACACACGTTATATATGTATATAG AAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG03017.hp1 HG01167.hp2 HG01891.hp1 HG03017.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0015 a0002c0002t0007 a0003c0003t0008 a0001c0001t0015 a0002c0002t0007 a0003c0003t0008	a0001c0001t0015g0015 a0002c0002t0007g0058 a0003c0003t0008g0114 a0001c0001t0015g0015 a0002c0002t0007g0058 a0003c0003t0008g0114	3	164	0.0183	-102	c.542 others(19): Show c.542-16649_542-16548del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126671	CGTTATAT others(95): Show CGTTATATATGTATATATAACACACGTTATATATGTATATATAACACACA CGTTATATATGTATATAGAACACACACGTTATATATGTATATAGAACACA CAT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0067 a0001c0001t0025g0067	1	172	0.0058	-102	c.542 others(19): Show c.542-16607_542-16506del	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA6E_chrX_153390639_153406350	153391133	TCACACAC others(95): Show TCACACACACCATGCACACCATGCACACACACCACACACACCATGCACAC CACACACACTCACACACCACACACACCATGCACACCACACACACACCACA CAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01346.hp1 NA18977.hp1 others(2): Show HG01123.hp1 HG01346.hp1 NA18977.hp1 NA18987.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0002 a0002c0002t0002g0001 a0002c0002t0002g0115 a0001c0001t0001g0002 a0002c0002t0002g0001 a0002c0002t0002g0115	5	341	0.0147	-102	c.56 others(11): Show c.5671_*5772del	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4505		chrX	TogoVar
POLR3B_chr12_106352748_106515198	106442672	TACCAGGT others(95): Show TACCAGGTACATTCCATTGATGGGCTGGGACGTGGTTTCTTGGACATCAC TTCAGTCCACAGGTGCTGTAAACCACTGAAATTCTTAAGGTTACACTTCA CAA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	302	0.0033	-102	c.195 others(19): Show c.1956-1788_1956-1687del	POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	18/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPARGC1B_chr5_149725310_149860022	149809130	GATAGATA others(95): Show GATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAG ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCT ACC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0199 a0001c0006t0001g0199	1	309	0.0032	-102	c.79- others(17): Show c.79-11268_79-11167del	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809301	GATAGATA others(95): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACC ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCT ACC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0309 a0003c0003t0004g0309	1	318	0.0031	-102	c.79- others(17): Show c.79-11105_79-11004del	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP2R2D_chr10_131896008_131964834	131919218	GTGTAGGG others(95): Show GTGTAGGGACCTCAGGCGGGTGGAATGACAGTGTAGGGACCTCACGTGGG TGGAATGGCACAGCGTTTGTAGGGACCTCAGGCAGGTGGAATGACACAGT CTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03486.hp1 HG03579.hp2 others(1): Show HG01891.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0034 a0001c0001t0048 others(1): Show a0001c0001t0012 a0001c0001t0034 a0001c0001t0048 a0001c0001t0063	a0001c0001t0012g0170 a0001c0001t0034g0191 a0001c0001t0048g0131 others(1): Show a0001c0001t0012g0170 a0001c0001t0034g0191 a0001c0001t0048g0131 a0001c0001t0063g0177	4	391	0.0102	-102	c.101 others(19): Show c.101-15108_101-15007del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRAMEF9_chr1_13166848_13184459	13182851	ACCTGCCT others(95): Show ACCTGCCTCGGCCTCCTAAATTGCTGGGAGTGAGCTCTTATAGGCATGAG CCACCGCACCCAGCCTTGAGTTTATTTATTTATTTATTTTGGAGATGGAG TCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01175.hp1 HG01256.hp2 others(19): Show HG00323.hp1 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01934.hp1 HG02735.hp2 HG03139.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 NA18945.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp2 NA18975.hp1 NA18980.hp2 NA19064.hp1 NA19067.hp1 NA19082.hp1 NA19084.hp2	a0004 a0009 a0025 others(1): Show a0004 a0009 a0025 a0026	a0004c0004 a0009c0011 a0025c0025 others(1): Show a0004c0004 a0009c0011 a0025c0025 a0026c0026	a0004c0004t0004 a0004c0004t0025 a0009c0011t0004 others(2): Show a0004c0004t0004 a0004c0004t0025 a0009c0011t0004 a0025c0025t0023 a0026c0026t0004	a0004c0004t0004g0002 a0004c0004t0004g0040 a0004c0004t0004g0042 others(6): Show a0004c0004t0004g0002 a0004c0004t0004g0040 a0004c0004t0004g0042 a0004c0004t0004g0043 a0004c0004t0004g0044 a0004c0004t0025g0045 a0009c0011t0004g0002 a0025c0025t0023g0002 a0026c0026t0004g0041	22	202	0.1089	-102	c.37 others(11): Show c.3720_*3821del	PRAMEF9	ENSG00000204505.5	transcript	ENST00000415919.3	protein_coding		3393		chr1	TogoVar
PRDM15_chr21_41793225_41884344	41806133	CACCATCA others(95): Show CACCATCACCACCACCACCACCATCACCATCACCACCACCATCACCACCA CCACCATCACCACCACCACCATCACCATCACCATCACCATCACCACCATC ACT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01257.hp2 HG01258.hp2 others(8): Show HG01167.hp2 HG01257.hp2 HG01258.hp2 HG02257.hp1 HG02735.hp1 HG02896.hp1 HG03139.hp2 HG03209.hp1 HG03540.hp2 NA18946.hp2 NA18994.hp1	a0001 a0001	a0001c0004 a0001c0009 a0001c0023 a0001c0004 a0001c0009 a0001c0023	a0001c0004t0003 a0001c0009t0008 a0001c0009t0024 others(1): Show a0001c0004t0003 a0001c0009t0008 a0001c0009t0024 a0001c0023t0003	a0001c0004t0003g0244 a0001c0004t0003g0264 a0001c0009t0008g0286 others(8): Show a0001c0004t0003g0244 a0001c0004t0003g0264 a0001c0009t0008g0286 a0001c0009t0008g0295 a0001c0009t0008g0337 a0001c0009t0008g0338 a0001c0009t0008g0340 a0001c0009t0008g0394 a0001c0009t0024g0353 a0001c0009t0024g0367 a0001c0023t0003g0334	11	404	0.0272	-102	c.265 others(19): Show c.2653-1621_2653-1520del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRIMPOL_chr4_184644738_184699952	184652937	AAGAAGGG others(95): Show AAGAAGGGAAGGAAGGAAGGAAAGAAGGGAAAGAAGAGGGAGGGAGGAAG GAAGGAAGGAAGAAGGGAAGGAAGGAAGGAAAGAAGGGAAAGAAGAGGGA GGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(133): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0013	a0001c0001 a0002c0006 a0003c0003 others(4): Show a0001c0001 a0002c0006 a0003c0003 a0004c0004 a0006c0008 a0009c0010 a0013c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0006t0001 a0003c0003t0001 a0004c0004t0001 a0006c0008t0001 a0009c0010t0001 a0013c0011t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(123): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0135 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0309 a0001c0001t0002g0248 a0001c0001t0005g0189 a0002c0006t0001g0044 a0002c0006t0001g0076 a0003c0003t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0023 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0004c0004t0001g0015 a0004c0004t0001g0038 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0041 a0004c0004t0001g0042 a0004c0004t0001g0043 a0004c0004t0001g0254 a0004c0004t0001g0255 a0004c0004t0001g0256 a0004c0004t0001g0257 a0006c0008t0001g0024 a0006c0008t0001g0025 a0006c0008t0001g0026 a0009c0010t0001g0210 a0013c0011t0001g0226	136	325	0.4185	-102	c.-60 others(15): Show c.-60+840_-60+941del	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKAG2_chr7_151551127_151882115	151874423	TATGTATA others(95): Show TATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTATA TGATGTATATGTATATGATGTATATGTATATGATGTATATGTATATGTAT ATG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG02809.hp2 others(2): Show HG00639.hp1 HG01109.hp2 HG02809.hp2 HG03098.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0006t0002	a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0005g0209 others(2): Show a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0005g0209 a0001c0001t0015g0238 a0001c0006t0002g0102	5	249	0.0201	-102	c.114 others(17): Show c.114+1982_114+2083del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2123789	TGGTTAGG others(95): Show TGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTG GTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGC GGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	281	0.0036	-102	c.335 others(19): Show c.335-11463_335-11362del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123807	TTAGGGTC others(95): Show TTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGC GGC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0012 a0001c0002t0011g0012	1	280	0.0036	-102	c.335 others(19): Show c.335-11454_335-11353del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKG1_chr10_51069487_52303350	52302285	CACACATA others(95): Show CACACATATGTATACACATGTATATACACACATATGTATACACATGTATA TACACACATATGTATACACATGTATATACACACATATGTATACACATGTA TAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG01243.hp1 others(9): Show HG00735.hp1 HG01123.hp1 HG01243.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0002t0003 a0001c0006t0007	a0001c0001t0002g0055 a0001c0001t0003g0008 a0001c0001t0003g0012 others(9): Show a0001c0001t0002g0055 a0001c0001t0003g0008 a0001c0001t0003g0012 a0001c0001t0003g0015 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0004g0028 a0001c0001t0007g0006 a0001c0001t0014g0032 a0001c0002t0003g0014 a0001c0002t0003g0034 a0001c0006t0007g0050	12	64	0.1875	-102	c.83 others(11): Show c.8386_*8487del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding		3936		chr10	TogoVar
PRPF6_chr20_63976132_64038100	64021676	CTGTGTGT others(95): Show CTGTGTGTGCGTGTGTGTGCACGTATGCATATGCCTCAGCCACAGCCCCG TGTGTGTGCGTGTGTGTGTGTGCACGTATGCATATGCCTCGGCCACAGCC CTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0192 a0001c0001t0001g0076 a0001c0001t0001g0192	2	292	0.0068	-102	c.164 others(18): Show c.1648-1065_1648-964del	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTP4A3_chr8_141387021_141437454	141430064	GCACAGTC others(95): Show GCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAG CGTACAGCCCAGGTTTCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGA GCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	157	0.0064	-102	c.405 others(15): Show c.405-811_405-710del	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN22_chr1_113808811_113876712	113871257	TATTAGTG others(95): Show TATTAGTGTTTTTACATCTGGAGTTGTATATGTCTTCTGTAGGATTCCTA ACCAAACTCCAAAGAACTAGCAAACAAAATATTAAAACCAGTAATTTTGA GAG	T T	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	356	0.0028	-102	c.87+ others(13): Show c.87+178_87+279del	PTPN22	ENSG00000134242.16	transcript	ENST00000359785.10	protein_coding	1/20			chr1	TogoVar
PTPN2_chr18_12787152_12889237	12870303	ATATATAC others(95): Show ATATATACATATATATGTGTATATATATGTATATATATACATATATATGT GTATATATATGTGTATATATACATATATATACGTATATATGTATATATAC ACG	A A	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	349	0.0029	-102	c.70- others(17): Show c.70-11151_70-11050del	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PXDN_chr2_1626887_1749515	1703755	AAGGGGGG others(95): Show AAGGGGGGCAACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGC AACTCCAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGACAGCTCCAG GTG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0180 a0001c0001t0009g0180	1	320	0.0031	-102	c.201 others(19): Show c.201-10723_201-10622del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB40C_chr16_585066_634268	612272	ATCAAGAG others(95): Show ATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACA GCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTA GAT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20905.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0278 a0001c0001t0002g0249 a0001c0001t0002g0278	2	348	0.0057	-102	c.143 others(17): Show c.143-4892_143-4791del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	3000837	CAGAAGAA others(95): Show CAGAAGAAGCAGGGAGTGCAGGTCCAAGCACCAGGCTGAAGTGGGGCTCG TGGAGGTAACAGAATCAGCCTCAGGGCCTTCCTGATGCCGGAGAAGGGAC AGA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0127 a0001c0004t0009g0127	1	216	0.0046	-102	c.120 others(19): Show c.1200+2467_1200+2568del	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114113618	CGGCGAGT others(95): Show CGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCACC ATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCAC CAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0030	6	27	0.2222	-102	c.55+ others(17): Show c.55+18715_55+18816del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RESP18_chr2_219322407_219338177	219333111	ATATAATA others(95): Show ATATAATATTATATATTATATATTATATATGGCACATCCATCCACTTTAC TCCACATCCACTGCCATCGCCTTGGTCCAAACCACTGCACACTGTACTTT TTT	A A	exon_loss_variant others(3): Show exon_loss_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0029 a0008c0011t0001g0029	1	418	0.0024	-102	c.-36 others(9): Show c.-36_17+49del	RESP18	ENSG00000182698.12	transcript	ENST00000333527.6	protein_coding	1/7			chr2	TogoVar
RGS22_chr8_99955936_100111049	100051556	TATATAAA others(95): Show TATATAAATATATATTTATATATGTTTATACATATATAAATATATATTTA TATATGTTTATACATATATAAATATATATTTATATATGTTTATACATATA TAA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	244	0.0041	-102	c.168 others(19): Show c.1689+1144_1689+1245del	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGSL1_chr1_182445146_182565597	182447010	GTGATATA others(95): Show GTGATATATACATTTAATCTTTAAAATTAAATATATGATATATACATTTA ATCTTTAAAATTAAATATATGATATATACATTTAATCTTTAAAATTAAAT ATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(89): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01928.hp1 HG02027.hp2 HG02071.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19064.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0010 a0013 a0016	a0001c0001 a0001c0004 a0001c0007 others(7): Show a0001c0001 a0001c0004 a0001c0007 a0001c0017 a0002c0002 a0003c0003 a0005c0008 a0010c0016 a0013c0015 a0016c0022	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(9): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0017t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0005c0008t0001 a0010c0016t0002 a0013c0015t0001 a0016c0022t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0031 others(87): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0248 a0001c0004t0001g0010 a0001c0004t0001g0023 a0001c0004t0001g0041 a0001c0004t0001g0044 a0001c0004t0001g0087 a0001c0004t0002g0056 a0001c0007t0001g0021 a0001c0007t0001g0022 a0001c0017t0001g0067 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0024 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0046 a0002c0002t0001g0059 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0089 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0003c0003t0001g0017 a0003c0003t0001g0030 a0003c0003t0001g0039 a0003c0003t0001g0043 a0003c0003t0001g0047 a0003c0003t0001g0049 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0064 a0003c0003t0001g0090 a0003c0003t0002g0016 a0003c0003t0002g0018 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0029 a0003c0003t0002g0054 a0003c0003t0002g0058 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0063 a0003c0003t0002g0092 a0005c0008t0001g0014 a0005c0008t0001g0034 a0005c0008t0001g0085 a0010c0016t0002g0008 a0013c0015t0001g0050 a0016c0022t0001g0077	92	216	0.4259	-102	c.-31 others(11): Show c.-3155_-3054del	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding		3135		chr1	TogoVar
RNF213_chr17_80255852_80403794	80315189	ATGGTGGA others(95): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTACTGGA GGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGG TGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0187 a0002c0010t0002g0187	1	282	0.0035	-102	c.281 others(19): Show c.2812-1963_2812-1862del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315280	TGGTGGTG others(95): Show TGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGATG GTGGAGGTACTAGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAAT GGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0082 a0001c0082	a0001c0082t0005 a0001c0082t0005	a0001c0082t0005g0227 a0001c0082t0005g0227	1	290	0.0034	-102	c.281 others(19): Show c.2812-1903_2812-1802del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar

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