Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FOXN3_chr14_89151177_89422233	89362191	TCCACCAC others(98): Show TCCACCACTACCACCTCCAGCACCACCACCTCCAGCACCACCTCCACCAC CACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACCACCACCT CCACCA	T T	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	210	0.0048	-105	c.544 others(19): Show c.544-11488_544-11384del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GABRG3_chr15_26966181_27546984	27305620	TATATATA others(98): Show TATATATAATATAAACCTATATGTTTATATATAAACATATATAATATAAA CCTATATGTTTATATATAAACATATATAATATAAACCTATATGTTTATAT ATAAAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA21309.hp2 HG02572.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0021 a0001c0004t0011 a0001c0001t0021 a0001c0004t0011	a0001c0001t0021g0072 a0001c0004t0011g0060 a0001c0001t0021g0072 a0001c0004t0011g0060	2	47	0.0426	-105	c.271 others(19): Show c.271-20833_271-20729del		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805561	CCCCCCTC others(98): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	276	0.0036	-105	c.13 others(11): Show c.1396_*1500del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1275		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805674	CCCCCCTC others(98): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	272	0.0037	-105	c.15 others(11): Show c.1509_*1613del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1388		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806140	GACCTCCG others(98): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	305	0.0033	-105	c.19 others(11): Show c.1975_*2079del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1854		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806157	CTCCCCCC others(98): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02135.hp2 HG02165.hp1 others(7): Show HG00438.hp1 HG02135.hp2 HG02165.hp1 HG02809.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18982.hp2 NA19030.hp1 NA19064.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0181 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0181 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0002g0085 a0003c0003t0001g0040	10	301	0.0332	-105	c.19 others(11): Show c.1992_*2096del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1871		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806196	CCCCTCAG others(98): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0013	1	303	0.0033	-105	c.20 others(11): Show c.2031_*2135del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1910		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806537	CCCCCCTC others(98): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	281	0.0036	-105	c.23 others(11): Show c.2372_*2476del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2251		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806650	CCCCCCTC others(98): Show CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	281	0.0036	-105	c.24 others(11): Show c.2485_*2589del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2364		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806918	TCCCCCCT others(98): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	278	0.0036	-105	c.27 others(11): Show c.2753_*2857del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2632		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806992	TCCCCCCT others(98): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	-105	c.28 others(11): Show c.2827_*2931del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2706		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71680592	CTCTCTCT others(98): Show CTCTCTCTCTTCCTCCCTCCCTCTCTCCCTCCTTCCTTTCCTTCCTTCCT CCCTCTCTCCCTCCTTCCTTCCTTTCTTCCTTTCCTTTTGTTTCCTTTCC TTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0052 a0001c0001t0005g0052	1	76	0.0132	-105	c.150 others(19): Show c.1500+3288_1500+3392del		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132291605	CCACCTCC others(98): Show CCACCTCCACAGCACCCACGTCCACACCACCCACATCCACAGCACCCAGG TCCACACCGCCCACATCCACGGTGCCCACATCCACAGCGCCCACATCCAT GGCGCA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02683.hp2 HG02895.hp1 others(1): Show HG00733.hp2 HG02683.hp2 HG02895.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0035 others(1): Show a0001c0004 a0001c0005 a0001c0035 a0002c0032	a0001c0004t0001 a0001c0005t0001 a0001c0035t0009 others(1): Show a0001c0004t0001 a0001c0005t0001 a0001c0035t0009 a0002c0032t0002	a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0035t0009g0140 others(1): Show a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0035t0009g0140 a0002c0032t0002g0167	4	182	0.0220	-105	c.239 others(17): Show c.239-5280_239-5176del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GCFC2_chr2_75657705_75715915	75672177	ATTTATAA others(98): Show ATTTATAAAATATATATTTATATATTTATAAATATGTTTATAAAATATAT ATTTATATATTTATAAATATGTTTATAAAATATATATTTATATATTTATA AATATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02895.hp1 NA18943.hp2 others(2): Show HG01109.hp1 HG02895.hp1 NA18943.hp2 NA18966.hp2 NA18977.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0023 a0001c0001 a0002c0002 a0009c0023	a0001c0001t0001 a0002c0002t0002 a0009c0023t0024 a0001c0001t0001 a0002c0002t0002 a0009c0023t0024	a0001c0001t0001g0091 a0002c0002t0002g0123 a0002c0002t0002g0145 others(2): Show a0001c0001t0001g0091 a0002c0002t0002g0123 a0002c0002t0002g0145 a0002c0002t0002g0146 a0009c0023t0024g0268	5	19	0.2632	-105	c.189 others(17): Show c.1890-266_1890-162del		GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	13/16						chr2	TogoVar
GET4_chr7_871554_901436	893172	TTGCAGGT others(98): Show TTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTGTGTGCAGGTGAGTGTT GGGCGTGGGCGTGGTGGTGTGTGCAGGTGAGTGTTGGGCGCGGGCGCGGT GGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp1 HG00639.hp2 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	2	378	0.0053	-105	c.747 others(15): Show c.747-513_747-409del		GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
GLT6D1_chr9_135618648_135644540	135620052	CCTACTCC others(98): Show CCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATC TCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTT CCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	434	0.0023	-105	c.39 others(11): Show c.3940_*4044del		GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding					3595		chr9	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842819	TCTGCTCC others(98): Show TCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCTCATCTGCTCC CCCATCTGCTCCTCCTGCTTCCACATCTGCTCCTCCTGCTTTCGCATCTG CTCCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02647.hp2 HG02717.hp1 HG03471.hp1 HG02647.hp2 HG02717.hp1 HG03471.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0002 a0011c0013t0002	a0011c0013t0002g0031 a0011c0013t0002g0080 a0011c0013t0002g0031 a0011c0013t0002g0080	3	420	0.0071	-105	c.118 others(9): Show c.1180_1284del	p.Glu others(13): Show p.Glu394_Gln428del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1379/2367	1180/1869	394/622			chr15	TogoVar
GPALPP1_chr13_44984538_45035305	45024205	GTGTTTTG others(98): Show GTGTTTTGAGACTGAGTCTCAATCTTCAAGTGTTTTTGCTTGGTATCCCC TAAAACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02523.hp1 NA18985.hp1 others(5): Show HG00609.hp1 HG02523.hp1 NA18985.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0239 a0001c0001t0003g0240 others(5): Show a0001c0001t0003g0220 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0003g0248	8	346	0.0231	-105	c.805 others(17): Show c.805-3578_805-3474del		GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC1_chr2_240430663_240473076	240440534	ACTCCTCC others(98): Show ACTCCTCCTGGCCTCCCTGCCTCCGGTCCTGCCCAGCTCCTCCTGGCCTC CCTGCCTCCGGTCCTGCCCAGCTCCTCCTGGCCTCCCTGCCTCCGGTCCT GCCCAG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0116 a0002c0016t0001g0116	1	207	0.0048	-105	c.166 others(17): Show c.166+4618_166+4722del		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC1_chr2_240430663_240473076	240453321	GCCCCGCT others(98): Show GCCCCGCTCCCACCGCCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCTCC GCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCC CTCCGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01081.hp2 others(44): Show HG00140.hp1 HG00639.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01261.hp2 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA18951.hp1 NA19066.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0023 a0002c0001 a0005c0011 a0012c0018	a0001c0002t0002 a0001c0002t0006 a0001c0002t0030 others(11): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0030 a0001c0003t0007 a0001c0004t0004 a0001c0004t0011 a0001c0004t0012 a0001c0004t0018 a0001c0004t0036 a0001c0006t0009 a0001c0023t0004 a0002c0001t0001 a0005c0011t0004 a0012c0018t0004	a0001c0002t0002g0059 a0001c0002t0002g0174 a0001c0002t0006g0118 others(40): Show a0001c0002t0002g0059 a0001c0002t0002g0174 a0001c0002t0006g0118 a0001c0002t0006g0119 a0001c0002t0030g0318 a0001c0003t0007g0200 a0001c0004t0004g0025 a0001c0004t0004g0032 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0004g0073 a0001c0004t0004g0212 a0001c0004t0004g0220 a0001c0004t0004g0257 a0001c0004t0004g0285 a0001c0004t0004g0287 a0001c0004t0004g0292 a0001c0004t0004g0296 a0001c0004t0004g0308 a0001c0004t0004g0310 a0001c0004t0004g0311 a0001c0004t0004g0320 a0001c0004t0004g0321 a0001c0004t0004g0322 a0001c0004t0011g0077 a0001c0004t0011g0168 a0001c0004t0011g0206 a0001c0004t0011g0277 a0001c0004t0012g0044 a0001c0004t0012g0260 a0001c0004t0012g0283 a0001c0004t0012g0305 a0001c0004t0018g0284 a0001c0004t0036g0173 a0001c0006t0009g0198 a0001c0023t0004g0309 a0002c0001t0001g0098 a0002c0001t0001g0199 a0002c0001t0001g0323 a0005c0011t0004g0130 a0005c0011t0004g0242 a0005c0011t0004g0324 a0012c0018t0004g0286	47	298	0.1577	-105	c.167 others(17): Show c.167-5706_167-5602del		GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM7_chr3_6856115_7746533	7099688	TATGTATA others(98): Show TATGTATATGTACACGCATTATACATGTGCACATACATGTATATGTACAC GCATTATACATGTGCACATACATGTATATGTACACGCATTATACATGTGC ACATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01981.hp1 others(20): Show HG00741.hp1 HG01069.hp2 HG01981.hp1 HG02109.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03710.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0003 a0001c0004t0004 a0001c0008t0002 a0001c0008t0003 a0001c0015t0009 a0002c0006t0001	a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0002g0051 others(20): Show a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0002g0051 a0001c0001t0002g0066 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0063 a0001c0002t0001g0004 a0001c0002t0001g0059 a0001c0002t0002g0042 a0001c0003t0001g0018 a0001c0003t0001g0032 a0001c0003t0001g0037 a0001c0003t0001g0068 a0001c0003t0002g0044 a0001c0003t0005g0015 a0001c0004t0003g0054 a0001c0004t0003g0058 a0001c0004t0004g0008 a0001c0008t0002g0020 a0001c0008t0003g0016 a0001c0015t0009g0045 a0002c0006t0001g0007	23	62	0.3710	-105	c.520 others(19): Show c.520-46694_520-46590del		GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
GSDMD_chr8_143553346_143568062	143557312	ATGGCGAA others(98): Show ATGGCGAAGGATGCTGCCGCTATGGTGAAGGATGCTGCCGCTTTGGCGAA GGATGCTGCCGCTATGGCGAAGGATGATGCCGCTGTGACGACAGCTGCTG CCGCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0025 a0004c0010t0001g0025	1	178	0.0056	-105	c.-11 others(11): Show c.-1143_-1039del		GSDMD	ENSG00000104518.11	transcript	ENST00000262580.9	protein_coding					1033		chr8	TogoVar
GSG1L_chr16_27782528_28068714	27842055	TCAGTAGC others(98): Show TCAGTAGCACGATGTCGCGCGTGCCGAATTTCACATCAGTAGCACGATGT CGCGCGTGCCGAATTTCACATCAGTAGCACGATGTCGCGCGTGCCGAATT TCACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18906.hp1 NA19030.hp1 HG01891.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0101 a0001c0002t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0101 a0001c0002t0001g0010	3	238	0.0126	-105	c.662 others(17): Show c.662+2790_662+2894del		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	4/6						chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888448	CTTTCTTT others(98): Show CTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTTTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	238	0.0042	-105	c.398 others(17): Show c.398-3915_398-3811del		GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6						chr16	TogoVar
GTPBP4_chr10_983434_1024932	1011000	TCCCCCCC others(98): Show TCCCCCCCACCCTGTGTCTCCGCCAGGCCCTGGATGGGCTCTGCTGTGCT GGGCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCTCCTGCACC TCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0072 a0001c0002t0039g0072	1	347	0.0029	-105	c.134 others(17): Show c.1344+485_1344+589del		GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
HCN2_chr19_584881_622159	605423	GCCCTTTC others(98): Show GCCCTTTCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTC GGGCCCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGAC TCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0258 a0002c0005t0003g0258	1	406	0.0025	-105	c.121 others(17): Show c.1218+204_1218+308del		HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC4_chr2_239043168_239406020	239281285	ACTCTACA others(98): Show ACTCTACAATGAACACACCACTCTACACACAATGTACACACCACTCTGCA AACAATGTACACACCACTCTACAATGAACACACCACTCTACACACCATGT ACATGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(33): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01123.hp2 HG01255.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02071.hp2 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp2 HG02809.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG06807.hp1 NA18906.hp1 NA18977.hp1 NA18998.hp2 NA19043.hp1 NA19240.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0016 a0001c0023 a0001c0027 a0005c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0063 a0001c0002t0001 a0001c0002t0009 a0001c0002t0012 a0001c0002t0020 a0001c0002t0024 a0001c0002t0058 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0004t0004 a0001c0004t0059 a0001c0007t0005 a0001c0016t0019 a0001c0023t0001 a0001c0027t0009 a0005c0029t0042	a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0150 others(33): Show a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0208 a0001c0001t0001g0241 a0001c0001t0002g0159 a0001c0001t0002g0195 a0001c0001t0003g0097 a0001c0001t0003g0147 a0001c0001t0005g0160 a0001c0001t0008g0173 a0001c0001t0010g0126 a0001c0001t0015g0238 a0001c0001t0063g0149 a0001c0002t0001g0167 a0001c0002t0001g0171 a0001c0002t0001g0240 a0001c0002t0009g0170 a0001c0002t0009g0172 a0001c0002t0012g0143 a0001c0002t0020g0174 a0001c0002t0024g0145 a0001c0002t0058g0142 a0001c0003t0003g0239 a0001c0003t0004g0019 a0001c0003t0008g0168 a0001c0004t0004g0011 a0001c0004t0004g0015 a0001c0004t0059g0008 a0001c0007t0005g0127 a0001c0016t0019g0130 a0001c0023t0001g0049 a0001c0027t0009g0148 a0005c0029t0042g0203	36	240	0.1500	-105	c.23- others(17): Show c.23-44726_23-44622del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26						chr2	TogoVar
HINT3_chr6_125951770_125985244	125962207	TATACACA others(98): Show TATACACATATATATATATATATATATACACATATATATATATACACACA TATATATATATATACATACATATATATATACACATATATATATATATATA TCACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG03195.hp1 others(5): Show HG02055.hp1 HG02630.hp1 HG03195.hp1 HG03225.hp2 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0012 a0001c0001t0001g0079 a0001c0001t0001g0088 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0003g0030 a0001c0001t0003g0083 a0001c0001t0003g0176 a0001c0001t0004g0172 a0001c0001t0011g0162	8	262	0.0305	-105	c.202 others(17): Show c.202-4676_202-4572del		HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
HSD17B11_chr4_87331515_87396188	87378855	TAAATATA others(98): Show TAAATATATATAAATATATATATATAAATATATATATATAAATATATATA AATATATATATATAAATATATATAAATATATATATATATATATTTATATA TATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 HG02572.hp1 others(6): Show HG00099.hp1 HG01261.hp2 HG02572.hp1 HG02698.hp2 HG03579.hp1 HG03831.hp2 NA18522.hp2 NA18906.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0006 a0001c0002t0001g0175 a0001c0002t0001g0176 others(4): Show a0001c0002t0001g0006 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0181 a0001c0002t0001g0258 a0001c0002t0002g0076	9	258	0.0349	-105	c.318 others(17): Show c.318+3295_318+3399del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378856	AAATATAT others(98): Show AAATATATATAAATATATATATATAAATATATATATATAAATATATATAA ATATATATATATAAATATATATAAATATATATATATATATATTTATATAT ATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01081.hp2 others(7): Show HG00323.hp1 HG00741.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01346.hp1 HG01891.hp2 HG02109.hp1 HG02622.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0017	a0001c0002t0001g0178 a0001c0002t0002g0025 a0001c0002t0002g0032 others(7): Show a0001c0002t0001g0178 a0001c0002t0002g0025 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0077 a0001c0002t0004g0333 a0001c0002t0004g0352 a0001c0002t0017g0179	10	384	0.0260	-105	c.318 others(17): Show c.318+3294_318+3398del		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
IL1RAPL1_chrX_28582446_29961718	29015803	TGTCTAAA others(98): Show TGTCTAAAGAAAGTCATTGAAATAACAGGACATTCTGAAGTTTGTACTTT TACAATTCCTTAACTTTATACATGCTTAATTAAAAGTTAATAAATATTTA CCAAAC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	135	0.0074	-105	c.82+ others(19): Show c.82+226379_82+226483del		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	2/10						chrX	TogoVar
INPP5F_chr10_119721050_119834147	119794752	CCCCCACC others(98): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCTCCCAGAAGGGGCGGCTGGCCGGGCGGGGGTCTGA CCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01069.hp2 others(10): Show HG00099.hp1 HG00140.hp1 HG01069.hp2 HG01167.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18963.hp2 NA19007.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0301 a0001c0003t0003g0302 a0001c0003t0003g0303 others(10): Show a0001c0003t0003g0301 a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0307 a0001c0003t0003g0308 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0313 a0001c0003t0003g0314 a0001c0003t0003g0315	13	326	0.0399	-105	c.670 others(17): Show c.670-1898_670-1794del		INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
IPO11_chr5_62407763_62633582	62503300	CAGTATCT others(98): Show CAGTATCTATTAATATATTAATAGTATCTACTAATATATTAATAGTATCT ATTAATATATTAATAGTATCTACTAATATATTAATAGTATCTATTAATAT ATTAAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG01433.hp2 HG00639.hp1 HG01361.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0325 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0325	3	291	0.0103	-105	c.159 others(19): Show c.1591-1337_1591-1233del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	16/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQCA1_chr2_236319151_236512476	236491141	AGTATATA others(98): Show AGTATATATATACACACAGTATATATATATATATATATATACACACAGTA TATATATATATATATATATATACACACAGTATATATATATATATATATAT ACACAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0007 a0007c0011t0007	a0007c0011t0007g0020 a0007c0011t0007g0020	1	205	0.0049	-105	c.456 others(17): Show c.456+2522_456+2626del		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18						chr2	TogoVar
IQGAP2_chr5_76398285_76713132	76404785	AGACCCAG others(98): Show AGACCCAGCTTTTTGCCTTTTGGTAAACCACACAGACAGCAGAGCCTCTT GGGTTCAAGAGGGAACGCTGTGCTCATTCAGTGTTTGCAGTGCCAACCTC AGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02559.hp1 HG02622.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0008 a0002c0001 a0005c0008	a0002c0001t0004 a0005c0008t0001 a0002c0001t0004 a0005c0008t0001	a0002c0001t0004g0206 a0005c0008t0001g0207 a0002c0001t0004g0206 a0005c0008t0001g0207	2	220	0.0091	-105	c.46+ others(15): Show c.46+1226_46+1330del		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76404850	CGCTGTGC others(98): Show CGCTGTGCTCATTCAGTGTTTGCAGTGCCAACCTCAGGTGGGACCCAGCT TTTTGCCTTTTGGTAAACCACAGATACAGCAGAGCCCGTTGGGTTCAAGG AGGAAT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA20805.hp1 HG04228.hp2 NA20805.hp1	a0004 a0011 a0004 a0011	a0004c0005 a0011c0016 a0004c0005 a0011c0016	a0004c0005t0001 a0011c0016t0003 a0004c0005t0001 a0011c0016t0003	a0004c0005t0001g0084 a0011c0016t0003g0081 a0004c0005t0001g0084 a0011c0016t0003g0081	2	220	0.0091	-105	c.46+ others(15): Show c.46+1298_46+1402del		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGB2_chr21_44880953_44925899	44885440	GGCTGGAG others(98): Show GGCTGGAGAAGAGGTGTAGATGGCTGGAGGGGAGGTGTAGACTGCTGGAG GGGAGGTGTAGACGGCTGGAGAAGAGGTGTAGACGGCTGGAGGGGAGGTG TAGACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(279): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0018 a0001c0020 a0001c0021 a0001c0026 a0001c0029 a0001c0032 a0001c0033 a0001c0034 a0001c0040 a0001c0042 a0001c0043 a0002c0036 a0002c0037 a0003c0035 a0004c0045 a0005c0038 a0008c0041 a0009c0028 a0010c0031 a0011c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0003t0007 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0001 a0001c0006t0003 a0001c0006t0012 a0001c0007t0001 a0001c0007t0002 a0001c0007t0003 a0001c0007t0004 a0001c0007t0005 a0001c0008t0001 a0001c0008t0003 a0001c0009t0001 a0001c0009t0002 a0001c0009t0005 a0001c0010t0001 a0001c0012t0004 a0001c0013t0003 a0001c0014t0001 a0001c0014t0002 a0001c0015t0003 a0001c0016t0001 a0001c0018t0005 a0001c0020t0004 a0001c0020t0007 a0001c0021t0002 a0001c0026t0004 a0001c0029t0004 a0001c0032t0001 a0001c0033t0004 a0001c0034t0001 a0001c0040t0002 a0001c0042t0003 a0001c0043t0005 a0002c0036t0004 a0002c0037t0004 a0003c0035t0001 a0004c0045t0004 a0005c0038t0002 a0008c0041t0003 a0009c0028t0003 a0010c0031t0001 a0011c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(267): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0215 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0330 a0001c0001t0001g0364 a0001c0001t0001g0368 a0001c0001t0001g0377 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0389 a0001c0001t0001g0396 a0001c0001t0001g0397 a0001c0001t0001g0399 a0001c0001t0001g0400 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0002g0069 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0253 a0001c0001t0002g0303 a0001c0001t0002g0333 a0001c0001t0002g0341 a0001c0001t0002g0376 a0001c0001t0002g0403 a0001c0001t0003g0004 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0099 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0168 a0001c0001t0003g0177 a0001c0001t0003g0229 a0001c0001t0003g0246 a0001c0001t0003g0255 a0001c0001t0003g0266 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0321 a0001c0001t0003g0356 a0001c0001t0003g0362 a0001c0001t0003g0365 a0001c0001t0003g0375 a0001c0001t0003g0380 a0001c0001t0003g0401 a0001c0001t0003g0412 a0001c0001t0003g0416 a0001c0001t0003g0417 a0001c0001t0004g0013 a0001c0001t0004g0195 a0001c0001t0004g0201 a0001c0001t0004g0231 a0001c0001t0004g0280 a0001c0001t0004g0284 a0001c0001t0004g0300 a0001c0001t0004g0318 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0343 a0001c0001t0004g0345 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0004g0363 a0001c0001t0004g0367 a0001c0001t0004g0370 a0001c0001t0004g0372 a0001c0001t0004g0392 a0001c0001t0004g0407 a0001c0001t0005g0193 a0001c0001t0005g0202 a0001c0001t0005g0354 a0001c0001t0008g0226 a0001c0001t0009g0121 a0001c0002t0001g0057 a0001c0002t0001g0075 a0001c0002t0001g0228 a0001c0002t0001g0249 a0001c0002t0001g0404 a0001c0002t0003g0173 a0001c0002t0003g0268 a0001c0003t0002g0020 a0001c0003t0002g0028 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0058 a0001c0003t0002g0064 a0001c0003t0002g0123 a0001c0003t0002g0126 a0001c0003t0002g0128 a0001c0003t0002g0211 a0001c0003t0002g0258 a0001c0003t0002g0297 a0001c0003t0002g0310 a0001c0003t0002g0381 a0001c0003t0002g0405 a0001c0003t0002g0413 a0001c0003t0002g0414 a0001c0003t0003g0312 a0001c0003t0006g0326 a0001c0003t0007g0162 a0001c0004t0001g0047 a0001c0004t0001g0097 a0001c0004t0001g0148 a0001c0004t0001g0305 a0001c0004t0001g0340 a0001c0004t0001g0394 a0001c0005t0001g0352 a0001c0005t0002g0009 a0001c0005t0002g0068 a0001c0005t0002g0070 a0001c0005t0002g0147 a0001c0005t0002g0210 a0001c0005t0002g0214 a0001c0005t0002g0282 a0001c0005t0003g0109 a0001c0005t0003g0110 a0001c0006t0001g0011 a0001c0006t0001g0181 a0001c0006t0001g0182 a0001c0006t0001g0276 a0001c0006t0001g0349 a0001c0006t0001g0409 a0001c0006t0003g0014 a0001c0006t0003g0098 a0001c0006t0003g0113 a0001c0006t0003g0174 a0001c0006t0003g0319 a0001c0006t0012g0420 a0001c0007t0001g0100 a0001c0007t0001g0151 a0001c0007t0001g0273 a0001c0007t0001g0371 a0001c0007t0001g0388 a0001c0007t0002g0015 a0001c0007t0002g0137 a0001c0007t0003g0102 a0001c0007t0003g0136 a0001c0007t0003g0224 a0001c0007t0003g0248 a0001c0007t0004g0227 a0001c0007t0004g0332 a0001c0007t0005g0331 a0001c0008t0001g0144 a0001c0008t0003g0095 a0001c0008t0003g0149 a0001c0008t0003g0272 a0001c0008t0003g0290 a0001c0008t0003g0301 a0001c0008t0003g0302 a0001c0009t0001g0063 a0001c0009t0001g0066 a0001c0009t0001g0196 a0001c0009t0001g0219 a0001c0009t0001g0277 a0001c0009t0001g0344 a0001c0009t0002g0320 a0001c0009t0005g0244 a0001c0010t0001g0145 a0001c0010t0001g0288 a0001c0010t0001g0382 a0001c0010t0001g0398 a0001c0012t0004g0190 a0001c0012t0004g0194 a0001c0012t0004g0236 a0001c0012t0004g0242 a0001c0012t0004g0264 a0001c0012t0004g0351 a0001c0013t0003g0025 a0001c0013t0003g0055 a0001c0013t0003g0379 a0001c0013t0003g0386 a0001c0013t0003g0418 a0001c0014t0001g0322 a0001c0014t0002g0261 a0001c0014t0002g0353 a0001c0015t0003g0143 a0001c0015t0003g0221 a0001c0016t0001g0355 a0001c0016t0001g0402 a0001c0018t0005g0222 a0001c0020t0004g0207 a0001c0020t0007g0239 a0001c0021t0002g0295 a0001c0026t0004g0103 a0001c0029t0004g0230 a0001c0032t0001g0189 a0001c0033t0004g0206 a0001c0034t0001g0079 a0001c0040t0002g0223 a0001c0042t0003g0139 a0001c0043t0005g0198 a0002c0036t0004g0279 a0002c0037t0004g0348 a0003c0035t0001g0410 a0004c0045t0004g0335 a0005c0038t0002g0237 a0008c0041t0003g0146 a0009c0028t0003g0346 a0010c0031t0001g0150 a0011c0023t0001g0309	282	442	0.6380	-105	c.82 others(9): Show c.823_*927del		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding					512		chr21	TogoVar
ITGB2_chr21_44880953_44925899	44912781	ACCCCAGG others(98): Show ACCCCAGGGTGCAGGGTCCAGCCAGCTTCAGGACTCCCCCAGGGTGCAGG GTCCAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCA GGACTC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02572.hp2 HG02055.hp2 HG02572.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0005g0193 a0001c0001t0005g0354 a0001c0003t0002g0192 a0001c0001t0005g0193 a0001c0001t0005g0354 a0001c0003t0002g0192	3	374	0.0080	-105	c.-3- others(15): Show c.-3-2101_-3-1997del		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15						chr21	TogoVar
ITGB2_chr21_44880953_44925899	44912804	AGCTTCAG others(98): Show AGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCC CCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCCCCAGGGTGCAGGGTC CAGCCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp2 others(14): Show HG00544.hp1 HG00544.hp2 HG00558.hp2 HG01168.hp2 HG02015.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG03453.hp1 HG03579.hp1 HG04199.hp1 NA18906.hp1 NA18971.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0017 a0001c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0002 a0001c0003t0007 a0001c0006t0001 a0001c0006t0002 a0001c0017t0001 a0001c0026t0004	a0001c0001t0001g0124 a0001c0001t0001g0411 a0001c0001t0002g0303 others(14): Show a0001c0001t0001g0124 a0001c0001t0001g0411 a0001c0001t0002g0303 a0001c0001t0002g0333 a0001c0001t0004g0195 a0001c0001t0004g0300 a0001c0001t0004g0370 a0001c0002t0001g0031 a0001c0002t0001g0104 a0001c0003t0002g0028 a0001c0003t0002g0123 a0001c0003t0002g0297 a0001c0003t0007g0162 a0001c0006t0001g0409 a0001c0006t0002g0204 a0001c0017t0001g0285 a0001c0026t0004g0103	17	151	0.1126	-105	c.-3- others(15): Show c.-3-2124_-3-2020del		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15						chr21	TogoVar
ITIH2_chr10_7698316_7754520	7737819	AATATTCT others(98): Show AATATTCTATATTATATTCTATATATTATATATTATATTCTATATATTAT ATATTATATTCTATATATTATATATTATATTCTATATATTATATATTATA TTCTAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	363	0.0028	-105	c.195 others(17): Show c.1958-796_1958-692del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160290	GGGGGGGT others(98): Show GGGGGGGTCTATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATG CTGGGGAGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCT TATTGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02280.hp1 HG04228.hp1 HG00280.hp1 HG02280.hp1 HG04228.hp1	a0002 a0002	a0002c0004 a0002c0008 a0002c0031 a0002c0004 a0002c0008 a0002c0031	a0002c0004t0004 a0002c0008t0017 a0002c0031t0037 a0002c0004t0004 a0002c0008t0017 a0002c0031t0037	a0002c0004t0004g0142 a0002c0008t0017g0121 a0002c0031t0037g0088 a0002c0004t0004g0142 a0002c0008t0017g0121 a0002c0031t0037g0088	3	156	0.0192	-105	c.222 others(19): Show c.2221-2913_2221-2809del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KLHL29_chr2_23380179_23713606	23460703	ACTCAGGA others(98): Show ACTCAGGAGCTTCCCGTGAAGGGAGCATCGTGCAAACTCAGGAGCTTCCC GTGAAGGGAGCATCGTGCAAACTCAGGAGCTTCCCGTGAAGGGAGCATCG TGCAAG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	158	0.0063	-105	c.-15 others(21): Show c.-153-14787_-153-14683del		KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
KLK4_chr19_50901351_50916395	50906650	GCTGGACT others(98): Show GCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTG GGGGGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp1 NA19081.hp2 NA19083.hp2 NA18993.hp1 NA19081.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0033 a0001c0002t0005g0033	3	412	0.0073	-105	c.17 others(9): Show c.179_*283del		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding	6/6				179		chr19	TogoVar
KRTAP4-11_chr17_41112181_41123373	41117934	CAGACTGG others(98): Show CAGACTGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAGCTGGGG CGACAGCAGCTGGAGATGCAGCATCTGGGGCGGCAGCAAGTGGGCTGGCA GCACAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp2 HG00423.hp2 HG00597.hp2 others(54): Show HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp1 HG02004.hp1 HG02055.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18981.hp2 NA18986.hp1 NA18997.hp2 NA18998.hp2 NA19005.hp2 NA19006.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp1	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0012	a0003c0003 a0005c0005 a0007c0007 others(1): Show a0003c0003 a0005c0005 a0007c0007 a0012c0009	a0003c0003t0002 a0005c0005t0003 a0005c0005t0006 others(2): Show a0003c0003t0002 a0005c0005t0003 a0005c0005t0006 a0007c0007t0005 a0012c0009t0002	a0003c0003t0002g0000 a0005c0005t0003g0000 a0005c0005t0006g0000 others(2): Show a0003c0003t0002g0000 a0005c0005t0003g0000 a0005c0005t0006g0000 a0007c0007t0005g0000 a0012c0009t0002g0000	57	426	0.1338	-105	c.277 others(7): Show c.277_381del	p.Met others(12): Show p.Met93_Ser127del	KRTAP4-11	ENSG00000212721.4	transcript	ENST00000391413.4	protein_coding	1/1	439/1193	277/588	93/195			chr17	TogoVar
KRTAP4-11_chr17_41112181_41123373	41117954	CTGCAGCA others(98): Show CTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCA GCATCTGGGGCGGCAGCAAGTGGGCTGGCAGCACATAGACTGGCAGCACT GGGGCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp2 HG01243.hp2 HG02976.hp1 others(3): Show HG00621.hp2 HG01243.hp2 HG02976.hp1 HG03041.hp1 NA18939.hp2 NA18984.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0002 a0005c0005t0003 a0005c0005t0009 a0003c0003t0002 a0005c0005t0003 a0005c0005t0009	a0003c0003t0002g0000 a0005c0005t0003g0000 a0005c0005t0009g0000 a0003c0003t0002g0000 a0005c0005t0003g0000 a0005c0005t0009g0000	6	426	0.0141	-105	c.257 others(7): Show c.257_361del	p.Lys others(12): Show p.Lys86_Cys120del	KRTAP4-11	ENSG00000212721.4	transcript	ENST00000391413.4	protein_coding	1/1	419/1193	257/588	86/195			chr17	TogoVar
KRTAP4-11_chr17_41112181_41123373	41118059	TTGCAGCA others(98): Show TTGCAGCAGCTGGACACACAGCAGCTGGGGCGACAGCAGCTGGAGATGCA GCATCTGGGGCGGCAGCAGGTGGGCTGGCAGCACACAGACTGGCAGCACT GGGGCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02451.hp1 HG02717.hp1 others(6): Show HG01891.hp1 HG02451.hp1 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03471.hp1 NA18906.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0004 a0004c0004t0001 a0004c0004t0004	a0004c0004t0001g0000 a0004c0004t0004g0000 a0004c0004t0001g0000 a0004c0004t0004g0000	9	369	0.0244	-105	c.152 others(7): Show c.152_256del	p.Arg others(11): Show p.Arg51_Cys85del	KRTAP4-11	ENSG00000212721.4	transcript	ENST00000391413.4	protein_coding	1/1	314/1193	152/588	51/195			chr17	TogoVar
L3MBTL4_chr18_5949717_6419911	6003021	AAGTATCT others(98): Show AAGTATCTCTATTTATAGAGATACTATATAAAATATAGTATCTCTATTTA TAGAGATACTATATAAAATATAGTATCTCTATTTATAGAGATACTATATA AAATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03516.hp2 NA18906.hp2 HG01243.hp2 HG03516.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0014 a0002c0002t0001g0078 a0002c0002t0001g0079 a0001c0001t0002g0014 a0002c0002t0001g0078 a0002c0002t0001g0079	3	9	0.3333	-105	c.144 others(21): Show c.1445-33564_1445-33460del		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18						chr18	TogoVar
LMNB2_chr19_2423166_2461959	2433349	ATCACCCC others(98): Show ATCACCCCCATCAGCTGGGTCACCCCGTTACCCCCATGCCCCAGTCATTC CGGTCACCTTGTCCCCTGCCTCGCATTGGCCGACAGCCCCGTCACCCTGA CCCTGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0268 a0001c0001t0024g0268	1	354	0.0028	-105	c.148 others(17): Show c.1482+372_1482+476del		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LMNB2_chr19_2423166_2461959	2433643	GGCCCCGT others(98): Show GGCCCCGTCACCCTGACCCTGATCACCCCCATCAGCTGGGTCACCCCGTT ACCCCCATGCCCCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGCATTGG CCGGCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp2 HG02258.hp1 others(14): Show HG01109.hp2 HG01192.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0258 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0005g0262	17	342	0.0497	-105	c.148 others(16): Show c.1482+78_1482+182del		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LOC102723971_chr9_135609183_135624893	135620052	CCTACTCC others(98): Show CCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATC TCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTT CCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	448	0.0022	-105	c.11 others(11): Show c.1101_*1205del		LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding					160		chr9	TogoVar

Search by Variant

Search

Search Results