Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITPR1_chr3_4488348_4852506	4721172	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02109.hp1 HG03471.hp2 HG02004.hp2 HG02109.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0055 a0001c0102 a0001c0001 a0001c0055 a0001c0102	a0001c0001t0001 a0001c0055t0003 a0001c0102t0001 a0001c0001t0001 a0001c0055t0003 a0001c0102t0001	a0001c0001t0001g0068 a0001c0055t0003g0072 a0001c0102t0001g0168 a0001c0001t0001g0068 a0001c0055t0003g0072 a0001c0102t0001g0168	3	176	0.0171	18	c.513 others(37): Show c.5136+3787_5136+3804dupATATATATATATATATAT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831125	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01256.hp1 HG01934.hp2 others(9): Show HG00323.hp1 HG01256.hp1 HG01934.hp2 HG02004.hp1 HG02004.hp2 HG02970.hp1 HG06807.hp1 NA18612.hp2 NA18948.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 others(8): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0025 a0001c0035 a0001c0055 a0001c0065 a0001c0067	a0001c0003t0003 a0001c0004t0002 a0001c0006t0002 others(9): Show a0001c0003t0003 a0001c0004t0002 a0001c0006t0002 a0001c0007t0002 a0001c0007t0003 a0001c0008t0001 a0001c0014t0003 a0001c0025t0003 a0001c0035t0011 a0001c0055t0003 a0001c0065t0003 a0001c0067t0001	a0001c0003t0003g0139 a0001c0004t0002g0002 a0001c0006t0002g0157 others(9): Show a0001c0003t0003g0139 a0001c0004t0002g0002 a0001c0006t0002g0157 a0001c0007t0002g0029 a0001c0007t0003g0043 a0001c0008t0001g0006 a0001c0014t0003g0053 a0001c0025t0003g0073 a0001c0035t0011g0001 a0001c0055t0003g0072 a0001c0065t0003g0149 a0001c0067t0001g0148	12	176	0.0682	18	c.802 others(37): Show c.8029-5648_8029-5647insACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831127	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01496.hp2 HG02886.hp2 others(4): Show HG01071.hp1 HG01496.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 NA18974.hp2 NA18984.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0001c0079 a0004c0092 a0008c0078	a0001c0001t0002 a0001c0001t0017 a0001c0003t0003 others(4): Show a0001c0001t0002 a0001c0001t0017 a0001c0003t0003 a0001c0010t0001 a0001c0079t0002 a0004c0092t0006 a0008c0078t0001	a0001c0001t0002g0018 a0001c0001t0017g0176 a0001c0003t0003g0155 others(4): Show a0001c0001t0002g0018 a0001c0001t0017g0176 a0001c0003t0003g0155 a0001c0010t0001g0055 a0001c0079t0002g0105 a0004c0092t0006g0067 a0008c0078t0001g0143	7	176	0.0398	18	c.802 others(37): Show c.8029-5646_8029-5645insACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831129	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 HG03579.hp2 HG02145.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0025 a0001c0033 a0001c0006 a0001c0025 a0001c0033	a0001c0006t0001 a0001c0025t0007 a0001c0033t0009 a0001c0006t0001 a0001c0025t0007 a0001c0033t0009	a0001c0006t0001g0126 a0001c0025t0007g0112 a0001c0033t0009g0114 a0001c0006t0001g0126 a0001c0025t0007g0112 a0001c0033t0009g0114	3	176	0.0171	18	c.802 others(37): Show c.8029-5644_8029-5643insACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831131	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG02970.hp2 others(2): Show HG02109.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0049 others(2): Show a0001c0001 a0001c0008 a0001c0049 a0001c0051 a0001c0095	a0001c0001t0001 a0001c0008t0001 a0001c0049t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0001c0049t0001 a0001c0051t0001 a0001c0095t0001	a0001c0001t0001g0068 a0001c0008t0001g0020 a0001c0049t0001g0015 others(2): Show a0001c0001t0001g0068 a0001c0008t0001g0020 a0001c0049t0001g0015 a0001c0051t0001g0116 a0001c0095t0001g0027	5	176	0.0284	18	c.802 others(37): Show c.8029-5637_8029-5620dupACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831131	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01496.hp1 HG02602.hp2 others(7): Show HG01433.hp1 HG01496.hp1 HG02602.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG03195.hp2 HG03225.hp1 NA19000.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0012 a0001c0016 a0001c0042 a0001c0053	a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0002 a0001c0005t0008 a0001c0009t0001 a0001c0012t0001 a0001c0016t0006 a0001c0042t0010 a0001c0053t0004	a0001c0001t0001g0004 a0001c0003t0001g0056 a0001c0003t0001g0085 others(7): Show a0001c0001t0001g0004 a0001c0003t0001g0056 a0001c0003t0001g0085 a0001c0004t0002g0087 a0001c0005t0008g0082 a0001c0009t0001g0057 a0001c0012t0001g0066 a0001c0016t0006g0023 a0001c0042t0010g0014 a0001c0053t0004g0030	10	176	0.0568	18	c.802 others(37): Show c.8029-5642_8029-5641insTCACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26451365	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0088 a0001c0001t0003g0089	2	142	0.0141	18	c.634 others(37): Show c.6343-7733_6343-7716dupTGTGTGTGTGTGTGTGTG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	45/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26503190	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG02109.hp1 others(10): Show HG00642.hp2 HG01433.hp2 HG02109.hp1 HG02523.hp2 HG02630.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03130.hp1 HG03453.hp1 HG03492.hp2 HG03540.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0011	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0001c0030 a0002c0009 a0003c0038 a0003c0047 a0004c0014 a0006c0053 a0011c0067	a0001c0001t0017 a0001c0002t0007 a0001c0002t0036 others(10): Show a0001c0001t0017 a0001c0002t0007 a0001c0002t0036 a0001c0004t0001 a0001c0004t0003 a0001c0013t0022 a0001c0030t0004 a0002c0009t0001 a0003c0038t0009 a0003c0047t0004 a0004c0014t0013 a0006c0053t0038 a0011c0067t0003	a0001c0001t0017g0102 a0001c0002t0007g0014 a0001c0002t0036g0011 others(10): Show a0001c0001t0017g0102 a0001c0002t0007g0014 a0001c0002t0036g0011 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0013t0022g0129 a0001c0030t0004g0009 a0002c0009t0001g0027 a0003c0038t0009g0012 a0003c0047t0004g0076 a0004c0014t0013g0094 a0006c0053t0038g0075 a0011c0067t0003g0007	13	142	0.0916	18	c.507 others(37): Show c.5074-7948_5074-7931dupGTGTGTGTGTGTGTGTGT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02280.hp1 HG03225.hp2 others(1): Show HG00140.hp1 HG02280.hp1 HG03225.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0003c0032 a0003c0041 a0001c0012 a0003c0032 a0003c0041	a0001c0012t0006 a0001c0012t0039 a0003c0032t0009 others(1): Show a0001c0012t0006 a0001c0012t0039 a0003c0032t0009 a0003c0041t0003	a0001c0012t0006g0080 a0001c0012t0039g0079 a0003c0032t0009g0049 others(1): Show a0001c0012t0006g0080 a0001c0012t0039g0079 a0003c0032t0009g0049 a0003c0041t0003g0091	4	142	0.0282	18	c.163 others(37): Show c.163+14223_163+14224insATATATATATATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26786449	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03540.hp2 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0030 a0001c0037 a0001c0030 a0001c0037	a0001c0030t0004 a0001c0037t0009 a0001c0030t0004 a0001c0037t0009	a0001c0030t0004g0009 a0001c0037t0009g0052 a0001c0030t0004g0009 a0001c0037t0009g0052	2	142	0.0141	18	c.163 others(35): Show c.163+3690_163+3707dupTTTTTTTTTTTTTTTTTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26790586	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03239.hp2 HG01496.hp2 HG03239.hp2	a0001 a0001	a0001c0024 a0001c0028 a0001c0024 a0001c0028	a0001c0024t0021 a0001c0028t0010 a0001c0024t0021 a0001c0028t0010	a0001c0024t0021g0122 a0001c0028t0010g0125 a0001c0024t0021g0122 a0001c0028t0010g0125	2	142	0.0141	18	c.93- others(31): Show c.93-377_93-360dupGTGTGTGTGTGTGTGTGT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPR3_chr6_33616322_33701562	33661992	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0303 a0001c0020t0005g0303	1	342	0.0029	18	c.712 others(33): Show c.712-528_712-511dupAAAAAAAAAAAAAAAAAA	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	7/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPRID1_chr7_31509090_31661504	31519578	A A	ATCTCTCT others(11): Show ATCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18960.hp2 HG00733.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0076 a0001c0003t0001g0072 a0001c0003t0001g0076	2	312	0.0064	18	c.-98 others(35): Show c.-98+5484_-98+5501dupCTCTCTCTCTCTCTCTCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519616	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0041 a0009c0041	a0009c0041t0004 a0009c0041t0004	a0009c0041t0004g0227 a0009c0041t0004g0227	1	312	0.0032	18	c.-98 others(35): Show c.-98+5497_-98+5498insATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	312	0.0032	18	c.-98 others(35): Show c.-98+5509_-98+5526dupTATATATATATATATATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTATAT others(11): Show CTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0010 a0010	a0010c0042 a0010c0042	a0010c0042t0005 a0010c0042t0005	a0010c0042t0005g0083 a0010c0042t0005g0083	1	312	0.0032	18	c.-98 others(35): Show c.-98+5501_-98+5502insCTATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0034 a0001c0003t0020g0034	1	312	0.0032	18	c.-98 others(35): Show c.-98+5501_-98+5502insCTCTCTATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	312	0.0032	18	c.-98 others(35): Show c.-98+5501_-98+5502insCTCTCTCTATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA18951.hp2 NA18991.hp2 HG01993.hp1 NA18951.hp2 NA18991.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0003 a0009c0019 a0001c0002 a0001c0003 a0009c0019	a0001c0002t0002 a0001c0003t0001 a0009c0019t0004 a0001c0002t0002 a0001c0003t0001 a0009c0019t0004	a0001c0002t0002g0111 a0001c0003t0001g0051 a0009c0019t0004g0052 a0001c0002t0002g0111 a0001c0003t0001g0051 a0009c0019t0004g0052	3	312	0.0096	18	c.-98 others(35): Show c.-98+5501_-98+5502insCTCTCTCTCTATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA20752.hp2 NA18945.hp1 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0021 a0001c0011t0002 a0001c0003t0021 a0001c0011t0002	a0001c0003t0021g0079 a0001c0011t0002g0060 a0001c0003t0021g0079 a0001c0011t0002g0060	2	312	0.0064	18	c.-98 others(35): Show c.-98+5501_-98+5502insCTCTCTCTCTCTATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0008 a0013c0026t0008	a0013c0026t0008g0164 a0013c0026t0008g0164	1	312	0.0032	18	c.-98 others(35): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519645	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03704.hp1 NA19000.hp2 HG02717.hp2 HG03704.hp1 NA19000.hp2	a0001 a0013 a0001 a0013	a0001c0002 a0013c0026 a0001c0002 a0013c0026	a0001c0002t0002 a0001c0002t0012 a0013c0026t0001 a0001c0002t0002 a0001c0002t0012 a0013c0026t0001	a0001c0002t0002g0093 a0001c0002t0012g0094 a0013c0026t0001g0082 a0001c0002t0002g0093 a0001c0002t0012g0094 a0013c0026t0001g0082	3	312	0.0096	18	c.-98 others(35): Show c.-98+5526_-98+5527insTATATATATATATATAAA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31595345	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02738.hp2 HG03209.hp1 others(1): Show HG00280.hp2 HG02738.hp2 HG03209.hp1 HG04204.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0001 a0003c0012 a0004c0017 others(1): Show a0002c0001 a0003c0012 a0004c0017 a0005c0009	a0002c0001t0005 a0003c0012t0011 a0004c0017t0011 others(1): Show a0002c0001t0005 a0003c0012t0011 a0004c0017t0011 a0005c0009t0029	a0002c0001t0005g0186 a0003c0012t0011g0294 a0004c0017t0011g0306 others(1): Show a0002c0001t0005g0186 a0003c0012t0011g0294 a0004c0017t0011g0306 a0005c0009t0029g0061	4	312	0.0128	18	c.122 others(39): Show c.1228+12165_1228+12182dupACACACACACACACACAC	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL2_chr16_19108964_19126629	19110393	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03516.hp2 NA19030.hp2 HG02922.hp1 HG03516.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0057 a0002c0002t0021 a0001c0001t0007 a0001c0001t0057 a0002c0002t0021	a0001c0001t0007g0000 a0001c0001t0057g0000 a0002c0002t0021g0000 a0001c0001t0007g0000 a0001c0001t0057g0000 a0002c0002t0021g0000	3	330	0.0091	18	c.-40 others(29): Show c.-4069_-4068insAAAAAAAAAAAAAAAAAA	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding		3570		chr16	TogoVar
ITPRIPL2_chr16_19108964_19126629	19120602	A A	AATATATA others(11): Show AATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp1 HG02615.hp1 HG01175.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0080 a0001c0005t0082 a0001c0003t0080 a0001c0005t0082	a0001c0003t0080g0000 a0001c0005t0082g0000 a0001c0003t0080g0000 a0001c0005t0082g0000	2	330	0.0061	18	c.45 others(29): Show c.4540_*4557dupATATATATATATATATAT	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding	1/1	4558	INFO_REALIGN_3_PRIME	chr16	TogoVar
ITPRIPL2_chr16_19108964_19126629	19120855	C C	CTCATGTA others(11): Show CTCATGTAACCTCTATGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0000 a0001c0001t0061g0000	1	330	0.0030	18	c.47 others(29): Show c.4787_*4804dupTCATGTAACCTCTATGGA	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding	1/1	4805	INFO_REALIGN_3_PRIME	chr16	TogoVar
ITPRIP_chr10_104304700_104343465	104309330	A A	ATATATAT others(11): Show ATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	324	0.0031	18	c.50 others(29): Show c.5077_*5078insAAAATATATATATATATA	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		369		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33784310	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02165.hp1 HG02630.hp1 others(1): Show HG01192.hp2 HG02165.hp1 HG02630.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0007t0061 a0001c0009t0072 a0001c0001t0001 a0001c0007t0061 a0001c0009t0072	a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0007t0061g0179 others(1): Show a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0007t0061g0179 a0001c0009t0072g0226	4	242	0.0165	18	c.182 others(37): Show c.1824+2204_1824+2221dupACACACACACACACACAC	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	16/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33877059	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01071.hp1 others(44): Show HG00597.hp1 HG00621.hp2 HG01071.hp1 HG01168.hp1 HG01192.hp1 HG01258.hp1 HG01346.hp1 HG01516.hp2 HG02027.hp2 HG02040.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02523.hp1 HG02615.hp1 HG02698.hp2 HG02735.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 NA18942.hp2 NA18962.hp1 NA18962.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18990.hp2 NA18991.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19059.hp1 NA19060.hp1 NA19067.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0001c0016 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0020 a0001c0001t0045 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0017 a0001c0002t0023 a0001c0002t0041 a0001c0005t0003 a0001c0012t0003 a0001c0016t0003 a0004c0013t0002	a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0188 others(44): Show a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0188 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0048 a0001c0001t0002g0089 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0230 a0001c0001t0003g0032 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0165 a0001c0001t0003g0181 a0001c0001t0003g0216 a0001c0001t0018g0154 a0001c0001t0018g0210 a0001c0001t0020g0070 a0001c0001t0045g0067 a0001c0001t0050g0086 a0001c0002t0001g0054 a0001c0002t0004g0001 a0001c0002t0004g0031 a0001c0002t0004g0082 a0001c0002t0004g0097 a0001c0002t0004g0158 a0001c0002t0004g0205 a0001c0002t0017g0012 a0001c0002t0023g0118 a0001c0002t0023g0119 a0001c0002t0041g0111 a0001c0005t0003g0050 a0001c0012t0003g0036 a0001c0016t0003g0223 a0004c0013t0002g0203	47	242	0.1942	18	c.434 others(37): Show c.4341+1550_4341+1551insTTTTTTTTTTTTTTTTTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24251309	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0001 a0003c0024t0001	a0003c0024t0001g0179 a0003c0024t0001g0179	1	224	0.0045	18	c.312 others(37): Show c.3120+1035_3120+1036insTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251309	C C	CAAAGAAA others(11): Show CAAAGAAAAAATAAAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0200 a0002c0003t0001g0200	1	224	0.0045	18	c.312 others(37): Show c.3120+1035_3120+1036insATTTTTTATTTTTTCTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24320525	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0212 a0001c0005t0002g0212	1	224	0.0045	18	c.32- others(33): Show c.32-5319_32-5302dupTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(11): Show AATATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	224	0.0045	18	c.-33 others(35): Show c.-33-9201_-33-9200insATGTGTATATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(11): Show AATATATATATATATACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01071.hp2 HG01109.hp1 others(13): Show HG00544.hp2 HG01071.hp2 HG01109.hp1 HG01257.hp2 HG01361.hp2 HG02015.hp1 HG02080.hp2 HG02257.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 NA18943.hp2 NA19004.hp1 NA19030.hp2 NA19064.hp1 NA19079.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0002c0003 a0003c0024 others(2): Show a0001c0001 a0002c0003 a0003c0024 a0005c0006 a0013c0017	a0001c0001t0001 a0001c0001t0007 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0002c0003t0001 a0003c0024t0001 a0005c0006t0001 a0013c0017t0001	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0062 others(13): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0007g0003 a0002c0003t0001g0138 a0002c0003t0001g0145 a0003c0024t0001g0179 a0005c0006t0001g0203 a0013c0017t0001g0207	16	224	0.0714	18	c.-33 others(35): Show c.-33-9201_-33-9200insATGTATATATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24361740	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00558.hp2 others(18): Show HG00099.hp1 HG00140.hp2 HG00558.hp2 HG01099.hp2 HG01168.hp2 HG01257.hp2 HG01433.hp2 HG02165.hp1 HG02257.hp1 HG02698.hp2 HG03710.hp1 NA18964.hp2 NA18969.hp1 NA18989.hp2 NA19007.hp1 NA19077.hp1 NA19079.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0007 a0009	a0001c0001 a0003c0002 a0003c0024 others(4): Show a0001c0001 a0003c0002 a0003c0024 a0004c0004 a0005c0006 a0007c0009 a0009c0015	a0001c0001t0001 a0003c0002t0001 a0003c0024t0001 others(4): Show a0001c0001t0001 a0003c0002t0001 a0003c0024t0001 a0004c0004t0001 a0005c0006t0001 a0007c0009t0001 a0009c0015t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0003c0002t0001g0158 others(18): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0003c0002t0001g0158 a0003c0002t0001g0162 a0003c0002t0001g0166 a0003c0002t0001g0167 a0003c0002t0001g0168 a0003c0002t0001g0169 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0180 a0003c0002t0001g0183 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0024t0001g0179 a0004c0004t0001g0015 a0005c0006t0001g0204 a0007c0009t0001g0163 a0009c0015t0001g0181	21	224	0.0938	18	c.-14 others(29): Show c.-1471_-1470insTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding		1205		chr2	TogoVar
IVD_chr15_40400795_40426308	40422585	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG03704.hp1 NA18959.hp2 others(3): Show HG01928.hp1 HG03704.hp1 NA18959.hp2 NA18962.hp2 NA18967.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0033	6	378	0.0159	18	c.43 others(29): Show c.4322_*4323insTTTTTTTTTTTTTTTTTT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1278		chr15	TogoVar
IVD_chr15_40400795_40426308	40422617	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	378	0.0027	18	c.43 others(29): Show c.4354_*4355insTTTTTTTTTTTTTTTTTC	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1310		chr15	TogoVar
IVD_chr15_40400795_40426308	40425440	C C	CTATATAT others(11): Show CTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	378	0.0027	18	c.71 others(29): Show c.7177_*7178insTATATATATATATATATA	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		4133		chr15	TogoVar
IYD_chr6_150364012_150410969	150409181	C C	CCCTTCTT others(11): Show CCCTTCTTTCTGCCTTCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp2 HG03225.hp1 others(3): Show HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0045 a0001c0001t0104 a0001c0001t0108 others(2): Show a0001c0001t0045 a0001c0001t0104 a0001c0001t0108 a0002c0002t0095 a0002c0002t0097	a0001c0001t0045g0104 a0001c0001t0045g0105 a0001c0001t0104g0243 others(3): Show a0001c0001t0045g0104 a0001c0001t0045g0105 a0001c0001t0104g0243 a0001c0001t0108g0103 a0002c0002t0095g0086 a0002c0002t0097g0255	6	414	0.0145	18	c.10 others(31): Show c.10944_*10945insCCTTCTTTCTGCCTTCGT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding		3213		chr6	TogoVar
IZUMO2_chr19_50147548_50168281	50148469	C C	CACGCGAA others(11): Show CACGCGAATATCCCTGTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	394	0.0025	18	c.41 others(29): Show c.4139_*4140insAAACAGGGATATTCGCGT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		4078		chr19	TogoVar
JADE2_chr5_134520670_134588227	134556767	C C	CACACATC others(11): Show CACACATCACACAACACAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp1 HG00741.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0036 a0001c0001t0001g0037	2	388	0.0052	18	c.312 others(35): Show c.312-3063_312-3062insACACATCACACAACACAT	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding	4/11			chr5	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTCTCTCT others(11): Show CTCTCTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	258	0.0039	18	c.-12 others(37): Show c.-12+10675_-12+10676insCTCTCTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTCTTTTT others(11): Show CTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	258	0.0039	18	c.-12 others(37): Show c.-12+10675_-12+10676insCTTTTTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	47061721	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01884.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG01884.hp1 HG02976.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0002g0076 a0001c0001t0004g0080	6	258	0.0233	18	c.26 others(29): Show c.2644_*2645insTCTCTCTCTCTCTCTCTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding		480		chrX	TogoVar
JAG2_chr14_105135995_105173776	105151204	A A	AGCAGCCC others(11): Show AGCAGCCCCAGCAGCCCCC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0052 a0003c0003t0016g0052	1	364	0.0028	18	c.126 others(33): Show c.1267+78_1267+79insGGGGGCTGCTGGGGCTGC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	9/25			chr14	TogoVar
JAK1_chr1_64828229_64971549	64860826	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00597.hp1 others(2): Show HG00280.hp1 HG00323.hp2 HG00597.hp1 HG01884.hp1 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0002 a0001c0006t0003 a0001c0004t0002 a0001c0006t0003	a0001c0004t0002g0066 a0001c0004t0002g0071 a0001c0006t0003g0013 others(2): Show a0001c0004t0002g0066 a0001c0004t0002g0071 a0001c0006t0003g0013 a0001c0006t0003g0014 a0001c0006t0003g0213	5	326	0.0153	18	c.117 others(35): Show c.1177-582_1177-565dupCACACACACACACACACA	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	8/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64860929	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01346.hp1 others(3): Show HG00280.hp1 HG01109.hp2 HG01346.hp1 HG01978.hp1 HG02300.hp1 HG04115.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0071 a0001c0004t0002g0198 a0001c0004t0002g0200 others(3): Show a0001c0004t0002g0071 a0001c0004t0002g0198 a0001c0004t0002g0200 a0001c0004t0002g0201 a0001c0004t0002g0204 a0001c0004t0002g0208	6	326	0.0184	18	c.117 others(35): Show c.1177-685_1177-668dupACACACACACACACACAC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	8/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01952.hp2 others(19): Show HG00621.hp1 HG00733.hp1 HG01952.hp2 HG02055.hp1 HG02071.hp2 HG02976.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA18612.hp2 NA18947.hp1 NA18953.hp1 NA18981.hp1 NA18989.hp1 NA18995.hp1 NA19002.hp2 NA19009.hp2 NA19054.hp2 NA19056.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0001g0064 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0254 a0001c0001t0002g0128 a0001c0001t0009g0111 a0001c0001t0011g0162 a0001c0002t0002g0161	22	326	0.0675	18	c.-77 others(37): Show c.-77-16243_-77-16242insACACTCTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03688.hp1 NA19081.hp1 HG01361.hp2 HG03688.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0125 a0001c0002t0002g0145 a0001c0002t0002g0273 a0001c0001t0001g0125 a0001c0002t0002g0145 a0001c0002t0002g0273	3	326	0.0092	18	c.-77 others(37): Show c.-77-16243_-77-16242insACACACTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 NA20300.hp2 HG02257.hp2 HG02615.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0001 a0001c0005t0002	a0001c0002t0001g0263 a0001c0005t0001g0260 a0001c0005t0002g0122 a0001c0002t0001g0263 a0001c0005t0001g0260 a0001c0005t0002g0122	3	326	0.0092	18	c.-77 others(37): Show c.-77-16243_-77-16242insACACACACTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar

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