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
PTPRM_chr18_7562316_8411856	8372056	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	31	0.0323	28	c.317 others(47): Show c.3171+1076_3171+1077insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15360890	G G	GTGTGTAT others(21): Show GTGTGTATATACACACATATATACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG01515.hp1 others(20): Show HG00735.hp1 HG01123.hp2 HG01515.hp1 HG01981.hp2 HG02132.hp1 HG02300.hp1 HG02738.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG04115.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18962.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0008g0011 a0001c0001t0009g0015 a0001c0001t0010g0022 a0001c0001t0010g0023 a0001c0001t0014g0001 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0003t0001g0012 a0001c0004t0001g0005 a0001c0004t0001g0017 a0001c0004t0001g0024 a0001c0004t0001g0025	23	162	0.1420	28	c.75+ others(45): Show c.75+38092_75+38093insGTATATACACACATATATACACACATGT	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRO_chr12_15317508_15603331	15360945	C C	CGTGTATA others(21): Show CGTGTATATACACACACATATATACACAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp2 HG04184.hp1 HG02723.hp2 HG03195.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0001g0019 a0001c0002t0003g0028 a0001c0003t0001g0026 a0001c0002t0001g0019 a0001c0002t0003g0028 a0001c0003t0001g0026	3	139	0.0216	28	c.75+ others(45): Show c.75+38171_75+38172insTGTGTATATACACACACATATATACACA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80607431	T T	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG02109.hp1 others(6): Show HG00639.hp1 HG01192.hp2 HG02109.hp1 HG02559.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 NA19240.hp2 NA20300.hp2	a0009 a0010 a0022 others(1): Show a0009 a0010 a0022 a0051	a0009c0008 a0010c0007 a0022c0024 others(1): Show a0009c0008 a0010c0007 a0022c0024 a0051c0048	a0009c0008t0004 a0010c0007t0002 a0010c0007t0004 others(2): Show a0009c0008t0004 a0010c0007t0002 a0010c0007t0004 a0022c0024t0002 a0051c0048t0004	a0009c0008t0004g0136 a0009c0008t0004g0152 a0010c0007t0002g0168 others(6): Show a0009c0008t0004g0136 a0009c0008t0004g0152 a0010c0007t0002g0168 a0010c0007t0002g0169 a0010c0007t0002g0170 a0010c0007t0004g0164 a0022c0024t0002g0159 a0022c0024t0002g0160 a0051c0048t0004g0157	9	63	0.1429	28	c.473 others(47): Show c.4731+2257_4731+2284dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	27/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80608547	T T	TAATTTAT others(21): Show TAATTTATAAATTATACTTATAAATTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01071.hp1 others(22): Show HG00099.hp2 HG00738.hp2 HG01071.hp1 HG01243.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp2 HG02451.hp1 HG02717.hp1 HG03579.hp2 NA18612.hp2 NA18941.hp1 NA18963.hp2 NA18964.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA19010.hp2 NA19030.hp1 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0011 a0015 a0021 a0028	a0001c0013 a0002c0002 a0002c0037 others(8): Show a0001c0013 a0002c0002 a0002c0037 a0003c0044 a0005c0003 a0006c0016 a0007c0060 a0011c0023 a0015c0011 a0021c0078 a0028c0074	a0001c0013t0001 a0001c0013t0002 a0002c0002t0002 others(12): Show a0001c0013t0001 a0001c0013t0002 a0002c0002t0002 a0002c0037t0001 a0003c0044t0002 a0005c0003t0001 a0005c0003t0002 a0006c0016t0001 a0006c0016t0002 a0007c0060t0002 a0011c0023t0002 a0015c0011t0001 a0015c0011t0002 a0021c0078t0002 a0028c0074t0002	a0001c0013t0001g0044 a0001c0013t0001g0057 a0001c0013t0002g0043 others(22): Show a0001c0013t0001g0044 a0001c0013t0001g0057 a0001c0013t0002g0043 a0002c0002t0002g0017 a0002c0037t0001g0008 a0003c0044t0002g0123 a0005c0003t0001g0105 a0005c0003t0001g0107 a0005c0003t0002g0104 a0005c0003t0002g0106 a0005c0003t0002g0109 a0005c0003t0002g0110 a0005c0003t0002g0112 a0005c0003t0002g0113 a0006c0016t0001g0029 a0006c0016t0002g0038 a0006c0016t0002g0158 a0007c0060t0002g0073 a0011c0023t0002g0035 a0011c0023t0002g0133 a0015c0011t0001g0006 a0015c0011t0001g0007 a0015c0011t0002g0020 a0021c0078t0002g0094 a0028c0074t0002g0099	25	176	0.1420	28	c.473 others(47): Show c.4732-1882_4732-1855dupATTATACTTATAAATTATAAATTTAT AA	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	27/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRS_chr19_5200508_5345812	5228347	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0003 a0001c0049t0003	a0001c0049t0003g0042 a0001c0049t0003g0042	1	29	0.0345	28	c.237 others(45): Show c.2376+968_2376+969insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	16/37			chr19	TogoVar
PTPRT_chr20_42067756_43194906	42404972	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18906.hp2 HG02622.hp2 NA18906.hp2	a0003 a0007 a0003 a0007	a0003c0024 a0007c0012 a0003c0024 a0007c0012	a0003c0024t0005 a0007c0012t0005 a0003c0024t0005 a0007c0012t0005	a0003c0024t0005g0032 a0007c0012t0005g0017 a0003c0024t0005g0032 a0007c0012t0005g0017	2	17	0.1176	28	c.156 others(49): Show c.1560+43247_1560+43248insTATATATATATATATATATATATA TATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42404972	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG03540.hp1 others(1): Show HG00140.hp2 HG00438.hp2 HG03540.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0018 a0002c0001 others(1): Show a0001c0003 a0001c0018 a0002c0001 a0002c0004	a0001c0003t0029 a0001c0018t0003 a0002c0001t0002 others(1): Show a0001c0003t0029 a0001c0018t0003 a0002c0001t0002 a0002c0004t0002	a0001c0003t0029g0048 a0001c0018t0003g0030 a0002c0001t0002g0025 others(1): Show a0001c0003t0029g0048 a0001c0018t0003g0030 a0002c0001t0002g0025 a0002c0004t0002g0007	4	19	0.2105	28	c.156 others(49): Show c.1560+43247_1560+43248insTATATATATATATATATATATATA TAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42633818	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0016 a0003c0020t0016	a0003c0020t0016g0029 a0003c0020t0016g0029	1	33	0.0303	28	c.115 others(49): Show c.1153+44047_1153+44048insTTATATATATATATATATATATAT ATAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43083321	T T	TGTATATA others(21): Show TGTATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0061 a0001c0007t0001g0061	1	61	0.0164	28	c.88+ others(47): Show c.88+106324_88+106325insGTGTATATATATATATATATATATAT AC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PUM1_chr1_30926506_31070717	30933428	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	328	0.0030	28	c.343 others(43): Show c.3436-87_3436-86insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	21/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	30972447	G G	GGGAGGGG others(21): Show GGGAGGGGAGGGGAGGGGAGGGGAGAAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03490.hp2 HG03492.hp1 others(1): Show HG00438.hp1 HG03490.hp2 HG03492.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0316 a0001c0002t0003g0331 a0001c0002t0003g0002 a0001c0002t0003g0316 a0001c0002t0003g0331	4	163	0.0245	28	c.150 others(47): Show c.1506+2203_1506+2204insTCTTCTCCCCTCCCCTCCCCTCCCCT CC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038958	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	254	0.0039	28	c.364 others(47): Show c.364-10095_364-10094insTATATATATATATATATATATATATA TA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0301 a0001c0002t0001g0301	1	94	0.0106	28	c.364 others(47): Show c.364-10121_364-10120insAAAATATATATATATATATATATATA TA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	94	0.0106	28	c.364 others(47): Show c.364-10121_364-10120insAAAAAAAAAATATATATATATATATA TA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	94	0.0106	28	c.364 others(47): Show c.364-10121_364-10120insAAAAAAAAAAAATATATATATATATA TA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18946.hp1 HG02723.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0181 a0001c0001t0001g0083 a0001c0001t0001g0181	2	95	0.0211	28	c.364 others(47): Show c.364-10121_364-10120insAAAAAAAAAAAAAATATATATATATA TA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	24	0.0417	28	c.222 others(45): Show c.2226-956_2226-929dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01516.hp2 others(3): Show HG00735.hp1 HG00741.hp1 HG01516.hp2 NA18959.hp2 NA19001.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0001 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0089 a0001c0001t0001g0122 a0001c0001t0001g0337 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0122 a0001c0001t0001g0337 a0001c0001t0003g0209 a0001c0001t0003g0242 a0001c0001t0017g0002	6	11	0.5455	28	c.195 others(47): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01515.hp2 HG01517.hp2 others(4): Show HG01074.hp2 HG01515.hp2 HG01517.hp2 HG01993.hp1 HG02155.hp1 HG02683.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0043 a0001c0001t0001g0121 a0001c0001t0001g0179 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0121 a0001c0001t0001g0179 a0001c0001t0001g0191 a0001c0001t0002g0308 a0001c0001t0002g0315 a0001c0001t0002g0323	7	12	0.5833	28	c.21 others(39): Show c.2186_*2213dupATATATATATATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456076	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	132	0.0076	28	c.17 others(39): Show c.1713_*1714insATATATATATATATATATATATATTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105509184	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	8	0.1250	28	c.-32 others(43): Show c.-32-641_-32-640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105515791	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18992.hp2 NA19086.hp2 HG00639.hp1 NA18992.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0282	3	55	0.0545	28	c.-33 others(45): Show c.-33+6233_-33+6260dupTAAATAAATAAATAAATAAATAAATAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	1/15			chr7	TogoVar
PWWP2A_chr5_160086339_160124450	160092013	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01891.hp1 others(4): Show HG00741.hp2 HG01123.hp2 HG01891.hp1 HG02622.hp1 HG02647.hp2 HG03710.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0013 a0001c0001t0028 a0001c0001t0045 others(2): Show a0001c0001t0013 a0001c0001t0028 a0001c0001t0045 a0001c0003t0013 a0001c0004t0044	a0001c0001t0013g0036 a0001c0001t0013g0177 a0001c0001t0013g0299 others(4): Show a0001c0001t0013g0036 a0001c0001t0013g0177 a0001c0001t0013g0299 a0001c0001t0028g0041 a0001c0001t0045g0283 a0001c0003t0013g0271 a0001c0004t0044g0323	7	145	0.0483	28	c.36 others(37): Show c.368_*369insATATATATATATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	2/2	368		chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132415701	T T	TCACACAC others(21): Show TCACACACATTCACACAAACACACATACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02922.hp2 others(2): Show HG01884.hp1 HG02109.hp1 HG02922.hp2 HG03195.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0003c0020 a0001c0009 a0003c0020	a0001c0009t0001 a0003c0020t0001 a0001c0009t0001 a0003c0020t0001	a0001c0009t0001g0021 a0001c0009t0001g0071 a0001c0009t0001g0121 others(1): Show a0001c0009t0001g0021 a0001c0009t0001g0071 a0001c0009t0001g0121 a0003c0020t0001g0150	5	372	0.0134	28	c.17 others(45): Show c.17-1351_*17-1350insTCACACAAACACACATACACACACACAT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PXDNL_chr8_51314577_51814445	51452935	A A	AACACATA others(21): Show AACACATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18906.hp1 HG02897.hp1 NA18906.hp1	a0010 a0010	a0010c0012 a0010c0045 a0010c0012 a0010c0045	a0010c0012t0003 a0010c0045t0001 a0010c0012t0003 a0010c0045t0001	a0010c0012t0003g0012 a0010c0045t0001g0052 a0010c0012t0003g0012 a0010c0045t0001g0052	2	49	0.0408	28	c.124 others(45): Show c.1249+583_1249+584insGTGTGTGTGTGTGTGTGTGTGTATGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	10/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51553771	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0029 a0029	a0029c0047 a0029c0047	a0029c0047t0001 a0029c0047t0001	a0029c0047t0001g0075 a0029c0047t0001g0075	1	107	0.0093	28	c.380 others(45): Show c.380+3068_380+3069insGTGTATATATATATATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51607854	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02922.hp2 HG01070.hp2 HG02922.hp2	a0003 a0028 a0003 a0028	a0003c0005 a0028c0026 a0003c0005 a0028c0026	a0003c0005t0003 a0028c0026t0003 a0003c0005t0003 a0028c0026t0003	a0003c0005t0003g0003 a0028c0026t0003g0002 a0003c0005t0003g0003 a0028c0026t0003g0002	2	70	0.0286	28	c.237 others(47): Show c.237-15184_237-15157dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51607887	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0003 a0025 a0003 a0025	a0003c0005 a0025c0043 a0003c0005 a0025c0043	a0003c0005t0003 a0025c0043t0003 a0003c0005t0003 a0025c0043t0003	a0003c0005t0003g0006 a0025c0043t0003g0005 a0003c0005t0003g0006 a0025c0043t0003g0005	2	116	0.0172	28	c.237 others(47): Show c.237-15190_237-15189insCTCCTTCCTTCCTTCCTTCCTTCCTT CC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51733812	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0001 a0016c0025t0001	a0016c0025t0001g0027 a0016c0025t0001g0027	1	25	0.0400	28	c.164 others(47): Show c.164+75368_164+75369insATATATATATATATATATATATATAT AT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51743908	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp1 others(15): Show HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01517.hp1 HG01884.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG03017.hp2 HG03130.hp1 HG03486.hp2 NA18522.hp2 NA18747.hp1 NA18947.hp1 NA18948.hp1 NA18984.hp2 NA19043.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0013	a0001c0001 a0001c0011 a0002c0002 others(6): Show a0001c0001 a0001c0011 a0002c0002 a0003c0003 a0004c0004 a0005c0018 a0007c0006 a0010c0012 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0011t0003 a0002c0002t0001 a0003c0003t0002 a0004c0004t0001 a0005c0018t0001 a0007c0006t0001 a0010c0012t0001 a0013c0010t0002	a0001c0001t0001g0047 a0001c0001t0002g0093 a0001c0001t0002g0095 others(15): Show a0001c0001t0001g0047 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0003g0013 a0001c0011t0003g0008 a0002c0002t0001g0040 a0003c0003t0002g0107 a0004c0004t0001g0037 a0005c0018t0001g0024 a0007c0006t0001g0042 a0007c0006t0001g0043 a0010c0012t0001g0038 a0013c0010t0002g0094	18	31	0.5806	28	c.164 others(47): Show c.164+65245_164+65272dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1720082	G G	AGAGGGAG others(21): Show AGAGGGAGGGATGCAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0076 a0001c0007t0006g0076	1	291	0.0034	28	c.200 others(47): Show c.200+24174_200+24175insCTCTCTCTCTCTCTGCATCCCTCCCT CT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720268	A A	AGAGGGAG others(21): Show AGAGGGAGGGATGCAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00621.hp2 others(49): Show HG00408.hp2 HG00423.hp2 HG00621.hp2 HG00642.hp2 HG01243.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18946.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp1 NA18986.hp2 NA18991.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp1 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0016 a0001c0026 a0001c0033 a0001c0040 a0012c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0031 a0001c0001t0033 a0001c0002t0003 a0001c0003t0002 a0001c0003t0012 a0001c0008t0002 a0001c0016t0005 a0001c0026t0001 a0001c0033t0001 a0001c0040t0030 a0012c0021t0002	a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 others(49): Show a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0222 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0299 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0213 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0249 a0001c0001t0002g0262 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0003g0182 a0001c0001t0005g0175 a0001c0001t0009g0178 a0001c0001t0009g0180 a0001c0001t0031g0215 a0001c0001t0033g0185 a0001c0002t0003g0097 a0001c0002t0003g0183 a0001c0002t0003g0187 a0001c0002t0003g0217 a0001c0002t0003g0296 a0001c0003t0002g0012 a0001c0003t0002g0033 a0001c0003t0002g0317 a0001c0003t0012g0255 a0001c0008t0002g0298 a0001c0016t0005g0001 a0001c0026t0001g0261 a0001c0033t0001g0216 a0001c0040t0030g0088 a0012c0021t0002g0251	52	282	0.1844	28	c.200 others(47): Show c.200+23960_200+23987dupCCTCTCTCTCTCTCTGCATCCCTCCC TC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXYLP1_chr3_141226825_141299924	141248652	C C	CACGTATA others(21): Show CACGTATATATACACACACGTGTATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	380	0.0026	28	c.-53 others(47): Show c.-53-11469_-53-11468insGTATATATACACACACGTGTATATAT AC	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PYCARD_chr16_31196486_31207760	31205946	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 NA19066.hp2 HG03017.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	65	0.0308	28	c.-32 others(39): Show c.-3257_-3256insGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PYCARD	ENSG00000103490.14	transcript	ENST00000247470.10	protein_coding		3187		chr16	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	103	0.0097	28	c.15 others(39): Show c.1564_*1565insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463090	T T	TCTCCCTC others(21): Show TCTCCCTCCCTCCCTCCCTCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01943.hp2 others(20): Show HG00423.hp2 HG00438.hp2 HG01943.hp2 HG01952.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp1 NA18747.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp1 NA18966.hp2 NA18979.hp2 NA18987.hp2 NA18998.hp2 NA19005.hp1 NA19012.hp1 NA19056.hp2 NA19068.hp2 NA19076.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	23	230	0.1000	28	c.16 others(39): Show c.1634_*1635insCTCCCTCCCTCCCTCCCTCCCTCCCTCC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1635		chr3	TogoVar
PYGL_chr14_50900217_50949483	50948213	A A	ACAAATAC others(21): Show ACAAATACAGATTAATACCCACTATGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0265 a0001c0002t0003g0265	1	388	0.0026	28	c.-38 others(39): Show c.-3811_-3810insAAACATAGTGGGTATTAATCTGTATTTG	PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding		3731		chr14	TogoVar
PYGO1_chr15_55533884_55593345	55567197	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	45	0.0222	28	c.50- others(45): Show c.50-18230_50-18203dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYROXD2_chr10_98378568_98420182	98386323	G G	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	2	156	0.0128	28	c.155 others(45): Show c.1554+877_1554+878insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	PYROXD2	ENSG00000119943.13	transcript	ENST00000370575.5	protein_coding	14/15			chr10	TogoVar
QPCT_chr2_37339630_37378322	37347231	C C	CATATATA others(21): Show CATATATATATAACATATATATATAACAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0350 a0001c0003t0003g0350	1	188	0.0053	28	c.120 others(45): Show c.120+2391_120+2392insACATATATATATAACATATATATATATA	QPCT	ENSG00000115828.17	transcript	ENST00000338415.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
QRFPR_chr4_121323642_121386018	121323977	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02602.hp1 NA18953.hp1 others(1): Show HG02132.hp2 HG02602.hp1 NA18953.hp1 NA18974.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0009 a0003c0004t0006 a0001c0001t0009 a0003c0004t0006	a0001c0001t0009g0228 a0001c0001t0009g0238 a0003c0004t0006g0324 others(1): Show a0001c0001t0009g0228 a0001c0001t0009g0238 a0003c0004t0006g0324 a0003c0004t0006g0329	4	352	0.0114	28	c.53 others(39): Show c.5336_*5337insATATATATATATATATATATATATATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding		4664		chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0162 a0002c0002t0001g0162	1	53	0.0189	28	c.340 others(42): Show c.340+94_340+121dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(21): Show GGAGAGAGAGGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01361.hp2 HG00733.hp2 HG00741.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0033 a0001c0001t0003g0311 a0001c0001t0002g0033 a0001c0001t0003g0311	3	55	0.0545	28	c.340 others(43): Show c.340+121_340+122insTCTCTCTCTCTCTCTCTCCCTCTCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QSOX2_chr9_136201333_136250812	136208289	A A	AGTGGAGG others(21): Show AGTGGAGGGTGCAGGGAGGGCCAAGGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0030 a0001c0023t0030	a0001c0023t0030g0298 a0001c0023t0030g0298	1	390	0.0026	28	c.43 others(37): Show c.438_*439insCCACCTTGGCCCTCCCTGCACCCTCCAC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12	438		chr9	TogoVar
QSOX2_chr9_136201333_136250812	136208291	T T	TGGAGGGT others(21): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00735.hp1 others(39): Show HG00621.hp1 HG00639.hp2 HG00735.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG02071.hp1 HG02083.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp2 NA18612.hp2 NA18948.hp1 NA18975.hp2 NA18992.hp2 NA19010.hp2 NA19054.hp1 NA19064.hp1 NA19066.hp2 NA19077.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0001c0026 a0002c0003 a0006c0022	a0001c0001t0005 a0001c0001t0017 a0001c0001t0034 others(9): Show a0001c0001t0005 a0001c0001t0017 a0001c0001t0034 a0001c0002t0005 a0001c0002t0035 a0001c0002t0050 a0001c0005t0005 a0001c0005t0017 a0001c0015t0005 a0001c0026t0005 a0002c0003t0005 a0006c0022t0005	a0001c0001t0005g0004 a0001c0001t0005g0009 a0001c0001t0005g0040 others(29): Show a0001c0001t0005g0004 a0001c0001t0005g0009 a0001c0001t0005g0040 a0001c0001t0005g0209 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0217 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0225 a0001c0001t0005g0243 a0001c0001t0005g0278 a0001c0001t0017g0037 a0001c0001t0034g0216 a0001c0002t0005g0074 a0001c0002t0005g0113 a0001c0002t0005g0148 a0001c0002t0035g0066 a0001c0002t0050g0083 a0001c0005t0005g0030 a0001c0005t0005g0181 a0001c0005t0005g0183 a0001c0005t0005g0184 a0001c0005t0005g0297 a0001c0005t0017g0182 a0001c0015t0005g0136 a0001c0026t0005g0306 a0002c0003t0005g0236 a0006c0022t0005g0276	42	43	0.9767	28	c.43 others(37): Show c.436_*437insCCCCACCTTGGCCCTCCCTGCACCCTCC	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	12/12	436		chr9	TogoVar
R3HDM1_chr2_135526484_135730269	135626209	G G	GTGCTTGC others(21): Show GTGCTTGCTTGCTTGCTTGCTTGCTTGCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	106	0.0094	28	c.497 others(45): Show c.497+3490_497+3517dupTGCTTGCTTGCTTGCTTGCTTGCTTGCT	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM1_chr2_135526484_135730269	135626209	G G	GTGTGTGC others(21): Show GTGTGTGCTTGCTTGCTTGCTTGCTTGCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19030.hp1 NA20905.hp2 HG04115.hp2 NA19030.hp1 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0006 a0001c0001 a0003c0003 a0005c0006	a0001c0001t0001 a0003c0003t0001 a0005c0006t0001 a0001c0001t0001 a0003c0003t0001 a0005c0006t0001	a0001c0001t0001g0052 a0003c0003t0001g0032 a0005c0006t0001g0022 a0001c0001t0001g0052 a0003c0003t0001g0032 a0005c0006t0001g0022	3	108	0.0278	28	c.497 others(45): Show c.497+3479_497+3480insTGTGCTTGCTTGCTTGCTTGCTTGCTTG	R3HDM1	ENSG00000048991.18	transcript	ENST00000683871.1	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00621.hp1 others(5): Show HG00408.hp1 HG00609.hp1 HG00621.hp1 HG02015.hp2 HG02129.hp1 NA18943.hp1 NA19087.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 others(5): Show a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323	8	19	0.4211	28	c.213 others(47): Show c.2132-1205_2132-1204insTTTTTCTTTTTTTTTTTTTTTTTTTT TT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM4_chr19_891503_918219	892874	A A	AGCCCCGC others(21): Show AGCCCCGCGCCCCGCGCCCCGCGCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18945.hp1 HG02155.hp2 NA18945.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0127 a0002c0002t0002g0024 a0001c0001t0001g0127 a0002c0002t0002g0024	2	393	0.0051	28	c.45 others(39): Show c.4562_*4563insGCGGGGCGCGGGGCGCGGGGCGCGGGGC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		3628		chr19	TogoVar

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