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
IQCB1_chr3_121764761_121840060	121786170	C C	CAAAAGAA others(28): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	76	0.0132	35	c.127 others(54): Show c.1278+2079_1278+2113dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCE_chr7_2553979_2619728	2611110	T T	TGGCTGGG others(28): Show TGGCTGGGCTGGGCTGGGCTGGGCTGGGCTGGGCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0149 a0001c0001t0062g0149	1	275	0.0036	35	c.98 others(44): Show c.981_*982insTGGGCTGGGCTGGGCTGGGCTGGGCTGGGCTGGGC	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	22/22	982	INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2611134	T T	TGGGCCGG others(28): Show TGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03471.hp2 HG02895.hp2 HG02897.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0020 a0001c0003t0020g0117 a0001c0003t0020g0118 a0001c0003t0020g0020 a0001c0003t0020g0117 a0001c0003t0020g0118	3	265	0.0113	35	c.97 others(44): Show c.976_*977insCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGC	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	22/22	977	INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2611139	T T	TGGGCCGG others(28): Show TGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02818.hp1 HG01891.hp2 HG02258.hp2 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0022 a0001c0003 a0001c0022	a0001c0003t0030 a0001c0022t0090 a0001c0003t0030 a0001c0022t0090	a0001c0003t0030g0048 a0001c0003t0030g0154 a0001c0022t0090g0081 a0001c0003t0030g0048 a0001c0003t0030g0154 a0001c0022t0090g0081	3	258	0.0116	35	c.98 others(44): Show c.986_*987insCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGC	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	22/22	987	INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	161	0.0062	35	c.690 others(52): Show c.690+9500_690+9501insAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCM_chr4_149346709_149820843	149388725	C C	CTGACATA others(28): Show CTGACATATATATATATGACATATATAATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	250	0.0040	35	c.139 others(56): Show c.1391-36694_1391-36660dupTATATATATTATATATGTCATATA TATATATGTCA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149481696	G G	GTTTTGTT others(28): Show GTTTTGTTTTTTTTTTTTGTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG03225.hp2 others(3): Show HG02572.hp2 HG02896.hp2 HG03225.hp2 NA18522.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0226 a0001c0001t0002g0227 others(3): Show a0001c0001t0002g0186 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0248	6	106	0.0566	35	c.122 others(56): Show c.1229-48140_1229-48139insAAAAACAAAAAAAAAAACAAAAAA AAAAAACAAAA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03486.hp1 HG02572.hp2 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0005 a0003c0004t0004 a0003c0004t0005	a0003c0004t0004g0184 a0003c0004t0005g0051 a0003c0004t0004g0184 a0003c0004t0005g0051	2	58	0.0345	35	c.209 others(54): Show c.2094+3214_2094+3215insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0034 a0003c0003t0005g0034	1	2	0.5000	35	c.76 others(44): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRF2_chr4_184382729_184479550	184430268	C C	CTGTATGC others(28): Show CTGTATGCCTCCTGCTGTCTGGCCCAGCCTTTTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03927.hp1 HG02559.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0303 a0001c0001t0010g0094 a0001c0001t0001g0303 a0001c0001t0010g0094	2	364	0.0055	35	c.-6- others(50): Show c.-6-1233_-6-1199dupAGGAAAAGGCTGGGCCAGACAGCAGGAGGC ATACA	IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8			chr4	TogoVar
IRF2_chr4_184382729_184479550	184430283	T T	TGTCTGGC others(28): Show TGTCTGGCCCAGCCTTTTCCTTGTATGCCTCCTGCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(61): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG01081.hp1 HG01256.hp1 HG01361.hp2 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03195.hp2 HG03579.hp1 HG03710.hp2 HG03831.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0004t0004 a0001c0011t0001	a0001c0001t0001g0143 a0001c0001t0001g0193 a0001c0001t0001g0217 others(59): Show a0001c0001t0001g0143 a0001c0001t0001g0193 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0289 a0001c0001t0001g0333 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0098 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0142 a0001c0001t0002g0219 a0001c0001t0002g0241 a0001c0001t0002g0252 a0001c0001t0002g0263 a0001c0001t0002g0276 a0001c0001t0002g0285 a0001c0001t0002g0292 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0340 a0001c0001t0003g0021 a0001c0001t0003g0028 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0253 a0001c0001t0003g0279 a0001c0001t0003g0287 a0001c0001t0003g0294 a0001c0001t0003g0305 a0001c0001t0003g0307 a0001c0001t0004g0230 a0001c0001t0007g0361 a0001c0002t0001g0115 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0152 a0001c0002t0001g0168 a0001c0002t0001g0196 a0001c0002t0001g0220 a0001c0002t0001g0249 a0001c0002t0004g0050 a0001c0002t0005g0043 a0001c0002t0006g0365 a0001c0002t0006g0366 a0001c0004t0004g0254 a0001c0011t0001g0083	64	356	0.1798	35	c.-6- others(50): Show c.-6-1248_-6-1214dupTGCAGGAGGCATACAAGGAAAAGGCTGGGC CAGAC	IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8			chr4	TogoVar
IRF4_chr6_386752_416443	396641	C C	CCCGTCTC others(28): Show CCCGTCTCAATGCCAGTGCTTCTTATCTCAGCCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00609.hp1 others(30): Show HG00323.hp1 HG00544.hp1 HG00609.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG02040.hp1 HG02145.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03831.hp2 HG04184.hp2 NA18906.hp1 NA18946.hp1 NA18962.hp2 NA18963.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19091.hp2 NA19240.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0042 a0001c0001t0044	a0001c0001t0002g0030 a0001c0001t0003g0026 a0001c0001t0003g0043 others(14): Show a0001c0001t0002g0030 a0001c0001t0003g0026 a0001c0001t0003g0043 a0001c0001t0003g0117 a0001c0001t0003g0125 a0001c0001t0003g0134 a0001c0001t0004g0135 a0001c0001t0006g0012 a0001c0001t0006g0017 a0001c0001t0006g0087 a0001c0001t0011g0184 a0001c0001t0012g0219 a0001c0001t0023g0042 a0001c0001t0024g0017 a0001c0001t0032g0118 a0001c0001t0042g0137 a0001c0001t0044g0183	33	458	0.0721	35	c.493 others(50): Show c.493-460_493-459insAATGCCAGTGCTTCTTATCTCAGCCTCTCC GTCTC	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF4_chr6_386752_416443	397055	C C	CCCCCGTC others(28): Show CCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00609.hp1 others(30): Show HG00323.hp1 HG00544.hp1 HG00609.hp1 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp1 HG02040.hp1 HG02040.hp2 HG02523.hp2 HG02717.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp1 HG03831.hp2 HG04184.hp2 NA18906.hp1 NA18946.hp1 NA18962.hp2 NA18963.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0032 a0001c0001t0042 a0001c0001t0044	a0001c0001t0001g0065 a0001c0001t0003g0026 a0001c0001t0003g0043 others(16): Show a0001c0001t0001g0065 a0001c0001t0003g0026 a0001c0001t0003g0043 a0001c0001t0003g0083 a0001c0001t0003g0117 a0001c0001t0003g0125 a0001c0001t0003g0134 a0001c0001t0004g0135 a0001c0001t0006g0012 a0001c0001t0006g0017 a0001c0001t0006g0087 a0001c0001t0011g0184 a0001c0001t0012g0219 a0001c0001t0014g0138 a0001c0001t0023g0042 a0001c0001t0024g0017 a0001c0001t0032g0118 a0001c0001t0042g0137 a0001c0001t0044g0183	33	456	0.0724	35	c.493 others(48): Show c.493-30_493-29insCTATCTCAGCCTCCCCGTCTCAATGCCAGTGC TTC	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
IRS1_chr2_226726312_226804820	226728076	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18991.hp1 NA18940.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0004 a0001c0001t0006 a0001c0003t0004	a0001c0001t0006g0147 a0001c0003t0004g0030 a0001c0001t0006g0147 a0001c0003t0004g0030	2	3	0.6667	35	c.81 others(46): Show c.8195_*8196insACACACACACACACACACACACACACACACACAC A	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding		3235		chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19057.hp2 NA18955.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	28	0.0714	35	c.21 others(54): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAATATATATATAT ATATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
ISL2_chr15_76331773_76347475	76334379	A A	ATCCAGAC others(28): Show ATCCAGACACACGCAGGCAGGGTGGGCAGAGGCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	414	0.0024	35	c.-25 others(46): Show c.-2505_-2504insTCCAGACACACGCAGGCAGGGTGGGCAGAGGCTC C	ISL2	ENSG00000159556.10	transcript	ENST00000290759.9	protein_coding		2393		chr15	TogoVar
ISM1_chr20_13216274_13305651	13268143	T T	TCTCTTCT others(28): Show TCTCTTCTCTTCCCTTCCCTTCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0037 a0001c0001t0018g0037	1	394	0.0025	35	c.139 others(52): Show c.139-2349_139-2315dupCCTTCCCTTCTCTCCTCTCCTCTCCTCT TCTCTTC	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISM1_chr20_13216274_13305651	13273215	T T	TTTTTATT others(28): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01361.hp1 others(18): Show HG00438.hp2 HG00741.hp2 HG01361.hp1 HG02015.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02257.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG03688.hp2 NA18949.hp2 NA18960.hp1 NA18960.hp2 NA18993.hp2 NA18995.hp1 NA19012.hp1 NA19081.hp2 NA19082.hp1 NA19240.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0011 others(1): Show a0001c0001 a0001c0002 a0005c0011 a0006c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0039 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0039 a0001c0002t0001 a0001c0002t0003 a0005c0011t0007 a0006c0013t0004	a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0087 others(18): Show a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0162 a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0283 a0001c0001t0001g0382 a0001c0001t0004g0336 a0001c0001t0004g0340 a0001c0001t0039g0192 a0001c0002t0001g0194 a0001c0002t0001g0206 a0001c0002t0001g0228 a0001c0002t0003g0034 a0001c0002t0003g0036 a0001c0002t0003g0054 a0005c0011t0007g0363 a0006c0013t0004g0341	21	109	0.1927	35	c.378 others(52): Show c.378+2477_378+2511dupATTTTATTTTATTTTATTTTATTTTATT TTATTTT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISOC2_chr19_55447985_55466642	55455873	A A	AGGGTCTG others(28): Show AGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00438.hp1 others(74): Show HG00099.hp2 HG00408.hp2 HG00438.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18975.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0006c0007 others(1): Show a0001c0001 a0001c0002 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 others(26): Show a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0084 a0001c0001t0003g0165 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0112 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0005g0027 a0001c0002t0005g0073 a0006c0007t0001g0088 a0007c0006t0001g0087	77	267	0.2884	35	c.139 others(48): Show c.139-63_139-29dupAGGAGTCCAGGCCCAGCCCCTCCTCCCTCAGA CCC	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	2/5			chr19	TogoVar
ITFG1_chr16_47149391_47466063	47293192	T T	TTATATAT others(28): Show TTATATATCATATATAAATATGATATATAAATGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	108	0.0093	35	c.107 others(56): Show c.1070+18013_1070+18047dupTCACATTTATATATCATATTTATA TATGATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	10/17			chr16	TogoVar
ITGAE_chr17_3709628_3806188	3730454	A A	AAAAAAAA others(28): Show AAAAAAAAAATAAAATAAAAAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01515.hp2 HG03831.hp1 others(1): Show HG01099.hp2 HG01515.hp2 HG03831.hp1 NA19087.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0093 a0002c0002t0001g0293 a0005c0005t0001g0247 others(1): Show a0002c0002t0001g0093 a0002c0002t0001g0293 a0005c0005t0001g0247 a0005c0005t0001g0280	4	218	0.0183	35	c.283 others(52): Show c.2834+649_2834+650insATTTATTTATTTATTTTTTTATTTTATT TTTTTTT	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	23/30			chr17	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACGTAT others(28): Show ATACGTATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02129.hp2 HG02040.hp1 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	2	109	0.0183	35	c.214 others(52): Show c.2145+245_2145+246insACGTATATATATATATATATATATATAT ATTTTTT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACGTAT others(28): Show ATACGTATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02486.hp1 HG02630.hp1 others(1): Show HG01106.hp1 HG02486.hp1 HG02630.hp1 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0004 a0001c0005t0001 a0001c0005t0004	a0001c0005t0001g0050 a0001c0005t0001g0258 a0001c0005t0001g0259 others(1): Show a0001c0005t0001g0050 a0001c0005t0001g0258 a0001c0005t0001g0259 a0001c0005t0004g0296	4	111	0.0360	35	c.214 others(52): Show c.2145+245_2145+246insACGTATATATATATATATATATATATAT TTTTTTT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACGTAT others(28): Show ATACGTATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02723.hp1 others(7): Show HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0250 a0001c0001t0001g0275 a0001c0001t0001g0282 others(7): Show a0001c0001t0001g0250 a0001c0001t0001g0275 a0001c0001t0001g0282 a0001c0004t0001g0285 a0001c0004t0001g0286 a0001c0004t0001g0287 a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0290 a0001c0004t0001g0303	10	117	0.0855	35	c.214 others(52): Show c.2145+245_2145+246insACGTATATATATATATATATATATATTT TTTTTTT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACGTAT others(28): Show ATACGTATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0276 a0001c0004t0001g0302 a0001c0001t0001g0276 a0001c0004t0001g0302	2	109	0.0183	35	c.214 others(52): Show c.2145+245_2145+246insACGTATATATATATATATATATATTTTT TTTTTTT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31258303	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0112 a0002c0003t0003g0112	1	78	0.0128	35	c.-17 others(46): Show c.-1762_-1761insTATATATATATATATATATATTTTTTTTTTTTTT T	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1671		chr16	TogoVar
ITIH2_chr10_7698316_7754520	7719923	A A	AAAGTGTG others(28): Show AAAGTGTGGGAGGGTGGGAGTGGGGAGACTTGGGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01167.hp2 others(12): Show HG00639.hp1 HG00733.hp1 HG01167.hp2 HG02055.hp1 HG02280.hp1 HG02486.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG03486.hp1 HG03516.hp2 NA19005.hp1 NA19055.hp1 NA19062.hp1 NA19068.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0004c0005 others(1): Show a0001c0001 a0001c0002 a0004c0005 a0009c0019	a0001c0001t0001 a0001c0002t0001 a0004c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0004c0005t0001 a0009c0019t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(12): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0002t0001g0341 a0001c0002t0001g0343 a0001c0002t0001g0345 a0001c0002t0001g0346 a0004c0005t0001g0225 a0009c0019t0001g0344	15	147	0.1020	35	c.631 others(50): Show c.631-733_631-699dupAGACTTGGGAGAAGTGTGGGAGGGTGGGAG TGGGG	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7565070	G G	GTATATAT others(28): Show GTATATATATATACATATATACACACATAGACTGTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02818.hp1 others(5): Show HG01884.hp2 HG02486.hp2 HG02818.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp2 NA20300.hp1	a0005 a0008 a0030 a0005 a0008 a0030	a0005c0013 a0005c0025 a0005c0034 others(5): Show a0005c0013 a0005c0025 a0005c0034 a0005c0079 a0008c0014 a0008c0042 a0008c0056 a0030c0038	a0005c0013t0036 a0005c0025t0004 a0005c0034t0004 others(5): Show a0005c0013t0036 a0005c0025t0004 a0005c0034t0004 a0005c0079t0004 a0008c0014t0004 a0008c0042t0032 a0008c0056t0038 a0030c0038t0004	a0005c0013t0036g0251 a0005c0025t0004g0264 a0005c0034t0004g0313 others(5): Show a0005c0013t0036g0251 a0005c0025t0004g0264 a0005c0034t0004g0313 a0005c0079t0004g0282 a0008c0014t0004g0193 a0008c0042t0032g0275 a0008c0056t0038g0256 a0030c0038t0004g0276	8	69	0.1159	35	c.252 others(52): Show c.2527+959_2527+960insTACAGTCTATGTGTGTATATATGTATAT ATATATA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	13/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7565081	T T	TACATATA others(28): Show TACATATATACACACAGACTGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0081 a0003c0081	a0003c0081t0001 a0003c0081t0001	a0003c0081t0001g0288 a0003c0081t0001g0288	1	339	0.0029	35	c.252 others(52): Show c.2527+948_2527+949insGTGTATATATATATACAGTCTGTGTGTA TATATGT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	13/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566764	A A	AGAGAGAA others(28): Show AGAGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19006.hp2 HG00558.hp2 NA19006.hp2	a0003 a0009 a0003 a0009	a0003c0005 a0009c0027 a0003c0005 a0009c0027	a0003c0005t0046 a0009c0027t0001 a0003c0005t0046 a0009c0027t0001	a0003c0005t0046g0315 a0009c0027t0001g0035 a0003c0005t0046g0315 a0009c0027t0001g0035	2	305	0.0066	35	c.215 others(52): Show c.2150-358_2150-357insCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26516265	A A	AGGAAAGG others(28): Show AGGAAAGGAAAGGAAGGGAAAGGAAGGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0007 a0001c0013t0002g0007	1	131	0.0076	35	c.507 others(56): Show c.5074-21006_5074-21005insCTTCCTTTCCCTTCCTTTCCCTTC CTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516285	G G	GGGAAAGG others(28): Show GGGAAAGGAAGGGAAAGGAAGGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0042 a0001c0045t0001g0042	1	41	0.0244	35	c.507 others(56): Show c.5074-21026_5074-21025insTTTCCTTTCCTTTCCCTTCCTTTC CCTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516295	A A	AGGAAAGG others(28): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0051 a0001c0011t0008g0051	1	118	0.0085	35	c.507 others(56): Show c.5074-21036_5074-21035insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516300	A A	AGGAAAGG others(28): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG03225.hp2 others(1): Show HG02055.hp1 HG02451.hp1 HG03225.hp2 NA20300.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0009 a0003c0033 a0003c0041 others(1): Show a0002c0009 a0003c0033 a0003c0041 a0007c0036	a0002c0009t0001 a0003c0033t0034 a0003c0041t0003 others(1): Show a0002c0009t0001 a0003c0033t0034 a0003c0041t0003 a0007c0036t0015	a0002c0009t0001g0015 a0003c0033t0034g0038 a0003c0041t0003g0098 others(1): Show a0002c0009t0001g0015 a0003c0033t0034g0038 a0003c0041t0003g0098 a0007c0036t0015g0101	4	127	0.0315	35	c.507 others(56): Show c.5074-21041_5074-21040insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516305	A A	AGGAAAGG others(28): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG02735.hp1 others(1): Show HG01081.hp1 HG01361.hp2 HG02735.hp1 NA18970.hp2	a0001 a0001	a0001c0005 a0001c0028 a0001c0062 others(1): Show a0001c0005 a0001c0028 a0001c0062 a0001c0065	a0001c0005t0005 a0001c0028t0001 a0001c0062t0020 others(1): Show a0001c0005t0005 a0001c0028t0001 a0001c0062t0020 a0001c0065t0024	a0001c0005t0005g0093 a0001c0028t0001g0023 a0001c0062t0020g0128 others(1): Show a0001c0005t0005g0093 a0001c0028t0001g0023 a0001c0062t0020g0128 a0001c0065t0024g0141	4	132	0.0303	35	c.507 others(56): Show c.5074-21046_5074-21045insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516310	A A	AGGAAAGG others(28): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp1 NA20752.hp1 HG00323.hp2 HG01243.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0057 a0001c0060 a0006c0066 a0001c0057 a0001c0060 a0006c0066	a0001c0057t0002 a0001c0060t0002 a0006c0066t0001 a0001c0057t0002 a0001c0060t0002 a0006c0066t0001	a0001c0057t0002g0061 a0001c0060t0002g0076 a0006c0066t0001g0062 a0001c0057t0002g0061 a0001c0060t0002g0076 a0006c0066t0001g0062	3	137	0.0219	35	c.507 others(56): Show c.5074-21051_5074-21050insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26565903	G G	GGAGGGGA others(28): Show GGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01106.hp1 others(17): Show HG00323.hp2 HG00639.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01981.hp1 HG02280.hp2 HG02735.hp2 HG03516.hp2 HG03834.hp1 HG04199.hp2 NA18960.hp2 NA18964.hp1 NA18970.hp2 NA18980.hp2 NA20752.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0018 a0001c0021 a0001c0026 a0001c0046 a0001c0057 a0001c0058 a0001c0060 a0001c0062 a0002c0010 a0006c0066	a0001c0001t0010 a0001c0002t0017 a0001c0003t0001 others(17): Show a0001c0001t0010 a0001c0002t0017 a0001c0003t0001 a0001c0004t0048 a0001c0005t0005 a0001c0005t0031 a0001c0007t0001 a0001c0007t0021 a0001c0008t0002 a0001c0011t0008 a0001c0018t0006 a0001c0021t0002 a0001c0026t0020 a0001c0046t0002 a0001c0057t0002 a0001c0058t0050 a0001c0060t0002 a0001c0062t0020 a0002c0010t0016 a0006c0066t0001	a0001c0001t0010g0129 a0001c0002t0017g0077 a0001c0003t0001g0068 others(17): Show a0001c0001t0010g0129 a0001c0002t0017g0077 a0001c0003t0001g0068 a0001c0004t0048g0117 a0001c0005t0005g0093 a0001c0005t0031g0104 a0001c0007t0001g0064 a0001c0007t0021g0119 a0001c0008t0002g0039 a0001c0011t0008g0051 a0001c0018t0006g0084 a0001c0021t0002g0050 a0001c0026t0020g0115 a0001c0046t0002g0070 a0001c0057t0002g0061 a0001c0058t0050g0118 a0001c0060t0002g0076 a0001c0062t0020g0128 a0002c0010t0016g0014 a0006c0066t0001g0062	20	105	0.1905	35	c.463 others(54): Show c.4631-3952_4631-3951insTCCTCTCCTCCCCTCCCCTCTCCTCT CCTCCCCTC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITSN1_chr21_33637501_33904861	33902332	A A	AGCCTCAG others(28): Show AGCCTCAGCACTCCTGGTTCCTGGAAAGGTTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG03516.hp2 NA18942.hp2 HG02015.hp2 HG03516.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0017 a0001c0002t0009 a0001c0002t0017	a0001c0002t0009g0131 a0001c0002t0017g0011 a0001c0002t0017g0194 a0001c0002t0009g0131 a0001c0002t0017g0011 a0001c0002t0017g0194	3	238	0.0126	35	c.14 others(48): Show c.14032_*14033insGCCTCAGCACTCCTGGTTCCTGGAAAGGTTGA GGG	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding		2472		chr21	TogoVar
IZUMO3_chr9_24537952_24550897	24546453	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	420	0.0024	35	c.-80 others(44): Show c.-805_-804insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		557		chr9	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0207 a0001c0003t0016g0207	1	99	0.0101	35	c.105 others(54): Show c.1057-2352_1057-2351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0028 a0001c0003t0006g0028	1	216	0.0046	35	c.46 others(46): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0051 a0001c0002t0041g0051	1	109	0.0092	35	c.-14 others(56): Show c.-149+40300_-149+40301insATATATATATATATATATATATAT ATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0015 a0001c0018t0015	a0001c0018t0015g0193 a0001c0018t0015g0193	1	109	0.0092	35	c.-14 others(56): Show c.-149+40300_-149+40301insAAATATATATATATATATATATAT ATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132071853	C C	CCTTTCTT others(28): Show CCTTTCTTTCCTTTCTTTCTTTCCTTTCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp2 HG01243.hp1 others(31): Show HG00423.hp1 HG01069.hp2 HG01243.hp1 HG01256.hp2 HG01884.hp1 HG02015.hp2 HG02040.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp2 NA18944.hp1 NA18966.hp1 NA18983.hp2 NA19004.hp1 NA19043.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0006 a0001c0013 a0001c0015 others(17): Show a0001c0006 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0002c0005 a0002c0016 a0002c0023 a0002c0025 a0002c0029 a0003c0003 a0003c0020 a0004c0009 a0004c0011 a0004c0014 a0004c0024 a0004c0027 a0004c0028 a0004c0030	a0001c0006t0003 a0001c0006t0033 a0001c0013t0023 others(25): Show a0001c0006t0003 a0001c0006t0033 a0001c0013t0023 a0001c0015t0005 a0001c0017t0005 a0001c0019t0001 a0001c0019t0003 a0001c0019t0014 a0001c0022t0002 a0002c0005t0002 a0002c0016t0006 a0002c0023t0001 a0002c0023t0003 a0002c0025t0008 a0002c0029t0014 a0003c0003t0001 a0003c0003t0005 a0003c0020t0003 a0004c0009t0002 a0004c0011t0038 a0004c0014t0001 a0004c0014t0012 a0004c0014t0028 a0004c0024t0002 a0004c0024t0006 a0004c0027t0001 a0004c0028t0002 a0004c0030t0027	a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0151 others(31): Show a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0151 a0001c0006t0033g0057 a0001c0013t0023g0078 a0001c0015t0005g0141 a0001c0017t0005g0079 a0001c0019t0001g0154 a0001c0019t0003g0081 a0001c0019t0014g0085 a0001c0022t0002g0061 a0002c0005t0002g0060 a0002c0016t0006g0052 a0002c0023t0001g0058 a0002c0023t0003g0073 a0002c0025t0008g0033 a0002c0029t0014g0053 a0003c0003t0001g0063 a0003c0003t0001g0076 a0003c0003t0005g0072 a0003c0020t0003g0069 a0003c0020t0003g0070 a0004c0009t0002g0054 a0004c0009t0002g0055 a0004c0009t0002g0065 a0004c0011t0038g0059 a0004c0014t0001g0074 a0004c0014t0012g0149 a0004c0014t0028g0152 a0004c0024t0002g0153 a0004c0024t0006g0150 a0004c0027t0001g0066 a0004c0028t0002g0064 a0004c0030t0027g0084	34	152	0.2237	35	c.-13 others(54): Show c.-138+5817_-138+5818insTCTTTCCTTTCTTTCTTTCCTTTCTT TCTTTCCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18945.hp1 NA18973.hp2 HG02523.hp2 NA18945.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0276 a0001c0001t0002g0293 a0001c0002t0003g0307 a0001c0001t0002g0276 a0001c0001t0002g0293 a0001c0002t0003g0307	3	146	0.0205	35	c.67+ others(52): Show c.67+20895_67+20896insATATATATATATATATATATATATATTT TTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19082.hp1 NA18953.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0279 a0001c0001t0005g0291 a0001c0001t0002g0279 a0001c0001t0005g0291	2	145	0.0138	35	c.67+ others(52): Show c.67+20895_67+20896insATATATATATATATATATATATATTTTT TTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	144	0.0069	35	c.67+ others(52): Show c.67+20895_67+20896insATATATATATATATATATATATTTTTTT TTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA19058.hp2 HG02818.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0258 a0001c0001t0003g0134 a0001c0001t0002g0258 a0001c0001t0003g0134	2	145	0.0138	35	c.67+ others(52): Show c.67+20895_67+20896insATATATATATATATATATATTTTTTTTT TTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0292 a0002c0003t0034g0292	1	144	0.0069	35	c.67+ others(52): Show c.67+20895_67+20896insATATATATATATATATTTTTTTTTTTTT TTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JMJD1C_chr10_63162225_63470977	63277731	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	68	0.0147	35	c.334 others(54): Show c.334-12968_334-12967insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar

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