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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LIN28B_chr6_104952107_105088332	105023226	T T	TAATATAT others(27): Show TAATATATATTATATTATATATTATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18948.hp1 NA18954.hp1 others(7): Show NA18942.hp2 NA18948.hp1 NA18954.hp1 NA18965.hp2 NA18972.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 others(7): Show a0001c0001t0001g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0026g0261	10	272	0.0368	34	c.199 others(51): Show c.199-3071_199-3038dupAATATATATTATATTATATATTATTTAT ATATAA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LIN52_chr14_74079956_74206493	74130278	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	143	0.0070	34	c.283 others(53): Show c.283+29058_283+29059insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LIN52_chr14_74079956_74206493	74182499	A A	AGCCAAGT others(27): Show AGCCAAGTAATGTAGATGCTGATTTGTCCAAATCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp2 others(39): Show HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp1 HG02071.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02602.hp1 HG02735.hp1 HG02738.hp2 HG03491.hp1 HG03492.hp2 HG03927.hp2 HG03942.hp1 NA18942.hp1 NA18961.hp2 NA18967.hp1 NA19003.hp1 NA19010.hp2 NA19062.hp2 NA19070.hp1 NA19082.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0041 a0001c0001t0042	a0001c0001t0003g0323 a0001c0001t0005g0295 a0001c0001t0005g0297 others(38): Show a0001c0001t0003g0323 a0001c0001t0005g0295 a0001c0001t0005g0297 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0310 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0328 a0001c0001t0005g0330 a0001c0001t0008g0003 a0001c0001t0008g0296 a0001c0001t0008g0307 a0001c0001t0008g0308 a0001c0001t0008g0309 a0001c0001t0008g0311 a0001c0001t0008g0312 a0001c0001t0008g0313 a0001c0001t0008g0327 a0001c0001t0008g0329 a0001c0001t0008g0331 a0001c0001t0008g0332 a0001c0001t0008g0333 a0001c0001t0008g0334 a0001c0001t0017g0314 a0001c0001t0017g0321 a0001c0001t0017g0322 a0001c0001t0041g0298 a0001c0001t0042g0302	42	352	0.1193	34	c.284 others(53): Show c.284-16398_284-16397insTCCAAATCTGCCAAGTAATGTAGATG CTGATTTG	LIN52	ENSG00000205659.12	transcript	ENST00000555028.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LIN54_chr4_82919603_83015823	82941149	G G	GATATATA others(27): Show GATATATATATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0114	1	17	0.0588	34	c.116 others(53): Show c.1169-1188_1169-1187insATATATATATATATATATATATCTAT ATATATAT	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	5/12			chr4	TogoVar
LIN54_chr4_82919603_83015823	83001857	A A	AAAGGAAA others(27): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	286	0.0035	34	c.-33 others(51): Show c.-33+8626_-33+8627insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTT	LIN54	ENSG00000189308.11	transcript	ENST00000340417.8	protein_coding	1/12			chr4	TogoVar
LINGO2_chr9_27932617_29218601	28433949	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0010 a0001c0001t0013g0010	1	37	0.0270	34	c.-22 others(55): Show c.-228+41990_-228+41991insTATATATATATATATATAGAGAGA GAGAGAGAGA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	4/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28714188	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	40	0.0250	34	c.-39 others(55): Show c.-394-43909_-394-43908insGTGTGTATATATATATATATATAT ATATATATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	28837649	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03486.hp1 HG02027.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0025 a0001c0001t0020 a0001c0001t0025	a0001c0001t0020g0042 a0001c0001t0025g0055 a0001c0001t0020g0042 a0001c0001t0025g0055	2	18	0.1111	34	c.-39 others(57): Show c.-395+110168_-395+110169insATATATATATATATATATATAT ATATATATATAT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6			chr9	TogoVar
LINGO2_chr9_27932617_29218601	29072611	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19060.hp1 HG02895.hp2 HG02897.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0013 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0002g0013 a0001c0001t0006g0003 a0001c0001t0006g0004	3	45	0.0667	34	c.-49 others(57): Show c.-491-124698_-491-124697insTATATATATATATATATATATA TATATATATATA	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6			chr9	TogoVar
LINS1_chr15_100561924_100607184	100600551	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp1 HG02486.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0058 a0001c0001t0009g0058	2	62	0.0323	34	c.-10 others(53): Show c.-104+1569_-104+1570insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	LINS1	ENSG00000140471.17	transcript	ENST00000314742.13	protein_coding	1/6			chr15	TogoVar
LIPG_chr18_49557057_49604185	49558431	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG04199.hp2 HG01361.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0042 a0002c0002t0073 a0001c0001t0042 a0002c0002t0073	a0001c0001t0042g0014 a0002c0002t0073g0345 a0001c0001t0042g0014 a0002c0002t0073g0345	2	115	0.0174	34	c.-38 others(45): Show c.-3878_-3877insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding		3625		chr18	TogoVar
LMAN2_chr5_177326567_177356668	177343584	C C	CACGGAAT others(27): Show CACGGAATGTGGTCTAGACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02451.hp1 others(21): Show HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0001c0008t0003	a0001c0001t0001g0242 a0001c0001t0003g0004 a0001c0001t0003g0043 others(13): Show a0001c0001t0001g0242 a0001c0001t0003g0004 a0001c0001t0003g0043 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0222 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0005t0003g0042 a0001c0008t0003g0240	24	252	0.0952	34	c.316 others(51): Show c.316-4980_316-4979insTTGTGTGTGTGTGTGTGTCTAGACCACA TTCCGT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding	2/7			chr5	TogoVar
LMF1_chr16_848634_975984	886545	A A	ATTCCCCA others(27): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	94	0.0106	34	c.729 others(51): Show c.729+6428_729+6461dupCGCCGGGGGCCTAGGGTGGGAGGGGCCT GGGGAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LMF1_chr16_848634_975984	947980	T T	TGACAGAG others(27): Show TGACAGAGTCAGAGCCAACAACAGAGTCAGCCAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0014 a0015 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(35): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0018 a0001c0020 a0001c0022 a0001c0023 a0001c0041 a0001c0044 a0001c0060 a0001c0067 a0002c0016 a0002c0017 a0002c0052 a0003c0009 a0003c0014 a0003c0015 a0003c0030 a0003c0032 a0004c0027 a0005c0025 a0005c0043 a0006c0021 a0006c0048 a0006c0049 a0007c0046 a0008c0045 a0011c0047 a0014c0062 a0015c0031 a0019c0042 a0020c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0003t0001 a0001c0004t0001 a0001c0004t0005 a0001c0004t0016 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0012t0001 a0001c0012t0018 a0001c0013t0001 a0001c0013t0014 a0001c0018t0001 a0001c0020t0001 a0001c0022t0001 a0001c0023t0001 a0001c0041t0001 a0001c0044t0001 a0001c0060t0002 a0001c0067t0001 a0002c0016t0001 a0002c0017t0001 a0002c0052t0001 a0003c0009t0001 a0003c0014t0001 a0003c0015t0001 a0003c0030t0002 a0003c0032t0001 a0004c0027t0001 a0005c0025t0007 a0005c0043t0003 a0006c0021t0001 a0006c0021t0006 a0006c0048t0006 a0006c0049t0001 a0007c0046t0004 a0008c0045t0003 a0011c0047t0010 a0014c0062t0008 a0015c0031t0001 a0019c0042t0001 a0020c0040t0004	a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 others(129): Show a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0266 a0001c0001t0019g0255 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0284 a0001c0002t0002g0282 a0001c0002t0002g0285 a0001c0002t0006g0048 a0001c0002t0011g0292 a0001c0003t0001g0102 a0001c0003t0001g0124 a0001c0003t0001g0248 a0001c0004t0001g0049 a0001c0004t0001g0054 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0067 a0001c0004t0001g0072 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0005g0071 a0001c0004t0016g0025 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0068 a0001c0005t0001g0129 a0001c0005t0001g0130 a0001c0005t0001g0258 a0001c0006t0001g0073 a0001c0006t0001g0283 a0001c0006t0001g0286 a0001c0006t0001g0289 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0002g0287 a0001c0006t0002g0288 a0001c0008t0001g0023 a0001c0008t0001g0055 a0001c0008t0001g0056 a0001c0008t0001g0065 a0001c0008t0001g0074 a0001c0008t0001g0089 a0001c0008t0002g0057 a0001c0012t0001g0084 a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 a0001c0012t0018g0035 a0001c0013t0001g0039 a0001c0013t0001g0042 a0001c0013t0001g0044 a0001c0013t0014g0022 a0001c0018t0001g0242 a0001c0020t0001g0097 a0001c0020t0001g0100 a0001c0022t0001g0268 a0001c0023t0001g0245 a0001c0023t0001g0246 a0001c0041t0001g0088 a0001c0044t0001g0034 a0001c0060t0002g0128 a0001c0067t0001g0075 a0002c0016t0001g0060 a0002c0016t0001g0062 a0002c0016t0001g0063 a0002c0017t0001g0038 a0002c0017t0001g0080 a0002c0017t0001g0096 a0002c0052t0001g0018 a0003c0009t0001g0001 a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0004 a0003c0009t0001g0005 a0003c0009t0001g0006 a0003c0014t0001g0009 a0003c0014t0001g0012 a0003c0014t0001g0015 a0003c0014t0001g0016 a0003c0015t0001g0011 a0003c0015t0001g0013 a0003c0015t0001g0014 a0003c0030t0002g0008 a0003c0032t0001g0007 a0004c0027t0001g0127 a0005c0025t0007g0259 a0005c0025t0007g0294 a0005c0043t0003g0119 a0006c0021t0001g0019 a0006c0021t0006g0020 a0006c0048t0006g0108 a0006c0049t0001g0243 a0007c0046t0004g0036 a0008c0045t0003g0066 a0011c0047t0010g0281 a0014c0062t0008g0214 a0015c0031t0001g0010 a0019c0042t0001g0083 a0020c0040t0004g0270	132	286	0.4615	34	c.503 others(51): Show c.503+6376_503+6377insGTTGGCTGACTCTGTTGTTGGCTCTGAC TCTGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	952917	G G	GTCCACAC others(27): Show GTCCACACAGACACCCCAAACCAGCCTCCTACATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01258.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18995.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0020 a0001c0022 a0001c0041 a0001c0044 a0001c0067 a0002c0016 a0002c0017 a0002c0035 a0002c0054 a0003c0014 a0004c0019 a0005c0043 a0007c0046 a0008c0045 a0009c0024 a0010c0038 a0010c0039 a0011c0047 a0012c0037 a0019c0042 a0020c0040	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(39): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0016 a0001c0005t0001 a0001c0005t0012 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0012t0001 a0001c0012t0018 a0001c0013t0001 a0001c0013t0014 a0001c0020t0001 a0001c0022t0001 a0001c0041t0001 a0001c0044t0001 a0001c0067t0001 a0002c0016t0001 a0002c0017t0001 a0002c0035t0001 a0002c0054t0001 a0003c0014t0001 a0004c0019t0001 a0005c0043t0003 a0007c0046t0004 a0008c0045t0003 a0009c0024t0001 a0010c0038t0001 a0010c0039t0002 a0011c0047t0010 a0012c0037t0005 a0019c0042t0001 a0020c0040t0004	a0001c0001t0001g0024 a0001c0001t0001g0254 a0001c0002t0001g0021 others(100): Show a0001c0001t0001g0024 a0001c0001t0001g0254 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0284 a0001c0002t0002g0282 a0001c0002t0002g0285 a0001c0002t0006g0048 a0001c0002t0011g0292 a0001c0003t0001g0102 a0001c0004t0001g0049 a0001c0004t0001g0059 a0001c0004t0001g0064 a0001c0004t0001g0072 a0001c0004t0001g0078 a0001c0004t0001g0087 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0004g0030 a0001c0004t0005g0071 a0001c0004t0016g0025 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0068 a0001c0005t0001g0109 a0001c0005t0001g0113 a0001c0005t0001g0114 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0012g0110 a0001c0006t0001g0073 a0001c0006t0001g0081 a0001c0006t0001g0092 a0001c0006t0001g0283 a0001c0006t0001g0286 a0001c0006t0001g0289 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0002g0287 a0001c0006t0002g0288 a0001c0008t0001g0055 a0001c0008t0001g0056 a0001c0008t0001g0074 a0001c0008t0001g0089 a0001c0008t0002g0057 a0001c0010t0001g0271 a0001c0010t0001g0277 a0001c0010t0001g0279 a0001c0012t0001g0084 a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 a0001c0012t0018g0035 a0001c0013t0001g0042 a0001c0013t0001g0044 a0001c0013t0014g0022 a0001c0020t0001g0097 a0001c0022t0001g0241 a0001c0022t0001g0268 a0001c0041t0001g0088 a0001c0044t0001g0034 a0001c0067t0001g0075 a0002c0016t0001g0062 a0002c0016t0001g0063 a0002c0017t0001g0038 a0002c0017t0001g0080 a0002c0017t0001g0096 a0002c0035t0001g0280 a0002c0054t0001g0111 a0003c0014t0001g0012 a0004c0019t0001g0079 a0004c0019t0001g0082 a0005c0043t0003g0119 a0007c0046t0004g0036 a0008c0045t0003g0066 a0009c0024t0001g0117 a0009c0024t0001g0118 a0010c0038t0001g0244 a0010c0039t0002g0264 a0011c0047t0010g0281 a0012c0037t0005g0278 a0019c0042t0001g0083 a0020c0040t0004g0270	103	289	0.3564	34	c.503 others(51): Show c.503+1439_503+1440insTATGTAGGAGGCTGGTTTGGGGTGTCTG TGTGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953138	G G	GACACCCA others(27): Show GACACCCACCCCAAACCAGCCTCCTGCACGTCCAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0010 a0010	a0010c0038 a0010c0039 a0010c0038 a0010c0039	a0010c0038t0001 a0010c0039t0002 a0010c0038t0001 a0010c0039t0002	a0010c0038t0001g0244 a0010c0039t0002g0264 a0010c0038t0001g0244 a0010c0039t0002g0264	2	289	0.0069	34	c.503 others(51): Show c.503+1185_503+1218dupGTGGACGTGCAGGAGGCTGGTTTGGGGT GGGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953727	C C	CCACCCCG others(27): Show CCACCCCGCACCAGCCTCCTACACGTCCACACAGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0001 a0015c0031t0001	a0015c0031t0001g0010 a0015c0031t0001g0010	1	275	0.0036	34	c.503 others(49): Show c.503+629_503+630insTCTGTGTGGACGTGTAGGAGGCTGGTGCGG GGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953765	C C	CCACCCCA others(27): Show CCACCCCAAACCAGCCTCCTGCACGTCCACACAGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0129 a0001c0005t0001g0129	1	275	0.0036	34	c.503 others(49): Show c.503+591_503+592insTCTGTGTGGACGTGCAGGAGGCTGGTTTGG GGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953913	C C	CCACCCCA others(27): Show CCACCCCAAACCAGCCTCCTACACGTTCACACAGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0096 a0002c0017t0001g0096	1	265	0.0038	34	c.503 others(49): Show c.503+443_503+444insTCTGTGTGAACGTGTAGGAGGCTGGTTTGG GGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953939	C C	CCACACAG others(27): Show CCACACAGACACCCCAAACCAGCCTCCTACACGTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	260	0.0038	34	c.503 others(49): Show c.503+417_503+418insAACGTGTAGGAGGCTGGTTTGGGGTGTCTG TGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	954009	G G	GTCCACAC others(27): Show GTCCACACAGACACCCCAAACCAGCCTCCTACATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0074 a0001c0008t0001g0074	1	282	0.0035	34	c.503 others(49): Show c.503+347_503+348insTATGTAGGAGGCTGGTTTGGGGTGTCTGTG TGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	954018	G G	GACACCCA others(27): Show GACACCCACTCCAAACCAGCCTCCTACATATCCAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0098	1	292	0.0034	34	c.503 others(49): Show c.503+338_503+339insGTGGATATGTAGGAGGCTGGTTTGGAGTGG GTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	954023	C C	CCACCCCA others(27): Show CCACCCCACACCAGCCTCCTACACGTCCACACAGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0096 a0002c0017t0001g0096	1	267	0.0037	34	c.503 others(49): Show c.503+333_503+334insTCTGTGTGGACGTGTAGGAGGCTGGTGTGG GGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	961003	A A	ACACAGAC others(27): Show ACACAGACTCACGGTGACAGCACGGGATCACGACC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0102 a0001c0003t0001g0102	1	292	0.0034	34	c.194 others(51): Show c.194-6338_194-6337insGGTCGTGATCCCGTGCTGTCACCGTGAG TCTGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	961490	C C	CAGACTCA others(27): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	287	0.0035	34	c.194 others(51): Show c.194-6825_194-6824insCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMNA_chr1_156109711_156142866	156140160	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA19010.hp1 NA19084.hp2 NA18983.hp2 NA19010.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0074 a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0074	3	19	0.1579	34	c.23 others(45): Show c.2396_*2397insACACACACACACACACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000677389.1	protein_coding		2295		chr1	TogoVar
LMNA_chr1_156109711_156145081	156140160	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA19010.hp1 NA19084.hp2 NA18983.hp2 NA19010.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0073	3	20	0.1500	34	c.10 others(45): Show c.1054_*1055insACACACACACACACACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000368300.9	protein_coding		80		chr1	TogoVar
LMNB1_chr5_126772136_126842020	126800981	A A	ATATATAT others(27): Show ATATATATATATATATATATATATAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18944.hp2 HG00597.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0271 a0001c0001t0003g0207 a0001c0001t0001g0271 a0001c0001t0003g0207	2	149	0.0134	34	c.360 others(51): Show c.360-3795_360-3794insTATATATATATATATATATATATAATTT TTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10			chr5	TogoVar
LMO7_chr13_75631330_75864866	75632862	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0115 a0005c0005t0003g0115	1	14	0.0714	34	c.-37 others(45): Show c.-3796_-3795insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding		3467		chr13	TogoVar
LMO7_chr13_75631330_75864866	75663432	C C	CTTTCTTT others(27): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03195.hp2 HG02895.hp1 HG02897.hp2 HG03195.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0001 a0007c0016t0001g0252 a0007c0016t0001g0001 a0007c0016t0001g0252	3	127	0.0236	34	c.69+ others(51): Show c.69+26709_69+26710insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTT	LMO7	ENSG00000136153.20	transcript	ENST00000377534.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr13	TogoVar
LMOD1_chr1_201891456_201951548	201947181	G G	GGAGAGAG others(27): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18988.hp1 NA19074.hp2 NA18986.hp1 NA18988.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0056 a0001c0001t0001g0078 a0002c0002t0002g0108 a0001c0001t0001g0056 a0001c0001t0001g0078 a0002c0002t0002g0108	3	59	0.0508	34	c.-84 others(43): Show c.-842_-841insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		634		chr1	TogoVar
LMOD1_chr1_201891456_201951548	201948368	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	398	0.0025	34	c.-20 others(45): Show c.-2029_-2028insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding		1821		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0328 a0001c0002t0004g0328	1	255	0.0039	34	c.165 others(53): Show c.1657-1733_1657-1732insATATATATATATATATATATATATAT ATTTTTTT	LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2			chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140149	T T	TCCTTCCT others(27): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02155.hp2 HG02698.hp1 HG01943.hp2 HG02155.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0002g0030 a0001c0001t0002g0256 a0001c0008t0001g0127 a0001c0001t0002g0030 a0001c0001t0002g0256 a0001c0008t0001g0127	3	298	0.0101	34	c.232 others(51): Show c.232-1248_232-1247insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13			chr7	TogoVar
LMX1A_chr1_165196867_165361715	165337888	C C	CTGTGTGT others(27): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp1 HG02145.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0012 a0001c0002t0001g0013	2	26	0.0769	34	c.263 others(53): Show c.263+15187_263+15188insCACACACACACACACACACACACACA CACACACA	LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8			chr1	TogoVar
LNPK_chr2_175918882_176007267	175951584	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	112	0.0089	34	c.494 others(51): Show c.494-3893_494-3892insATATATATATATATATATATATATATAT ATATAT	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNPK_chr2_175918882_176007267	175951607	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02630.hp2 HG00140.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0069 a0001c0001t0011 a0001c0001t0069	a0001c0001t0011g0141 a0001c0001t0069g0189 a0001c0001t0011g0141 a0001c0001t0069g0189	2	348	0.0057	34	c.494 others(51): Show c.494-3916_494-3915insGATATATATATATATATATATATATATA TATATA	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNPK_chr2_175918882_176007267	175951607	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATCTATCTATC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0091 a0001c0001t0008g0091	1	347	0.0029	34	c.494 others(51): Show c.494-3916_494-3915insGATAGATAGATATATATATATATATATA TATATA	LNPK	ENSG00000144320.14	transcript	ENST00000272748.9	protein_coding	8/12			chr2	TogoVar
LNX1_chr4_53454301_53596486	53492506	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18940.hp2 NA18964.hp2 others(4): Show HG01071.hp2 NA18940.hp2 NA18964.hp2 NA18968.hp2 NA18973.hp1 NA18977.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0050 a0001c0001t0001g0169 a0001c0001t0001g0211 others(4): Show a0001c0001t0001g0050 a0001c0001t0001g0169 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0269 a0001c0001t0001g0297 a0001c0004t0001g0201	7	15	0.4667	34	c.135 others(53): Show c.1350+3483_1350+3516dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	6/10			chr4	TogoVar
LNX1_chr4_53454301_53596486	53506856	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp2 HG02300.hp2 others(1): Show HG01175.hp1 HG02055.hp2 HG02300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0307	4	94	0.0426	34	c.775 others(49): Show c.775+460_775+461insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	LNX1	ENSG00000072201.14	transcript	ENST00000263925.8	protein_coding	4/10			chr4	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02129.hp2 others(5): Show HG01168.hp2 HG01169.hp2 HG02129.hp2 HG02280.hp1 HG02976.hp1 HG02976.hp2 NA19043.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0003t0005 a0002c0002t0002 a0002c0002t0029	a0001c0001t0002g0266 a0001c0001t0005g0038 a0001c0001t0013g0323 others(5): Show a0001c0001t0002g0266 a0001c0001t0005g0038 a0001c0001t0013g0323 a0001c0001t0013g0324 a0001c0003t0005g0028 a0002c0002t0002g0328 a0002c0002t0002g0331 a0002c0002t0029g0327	8	156	0.0513	34	c.122 others(51): Show c.1225-581_1225-580insTATATATATATATATATATATATATATA TATATA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LNX2_chr13_27540913_27625529	27560565	G G	GTGTGTAT others(27): Show GTGTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0320 a0002c0002t0002g0320	1	149	0.0067	34	c.122 others(51): Show c.1225-581_1225-580insTATATATATATATATATATATATATATA TACACA	LNX2	ENSG00000139517.9	transcript	ENST00000316334.5	protein_coding	5/9			chr13	TogoVar
LOC114841035_chr11_64236095_64249132	64237085	A A	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG06807.hp1 NA20300.hp1 HG02809.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	3	129	0.0233	34	c.-41 others(45): Show c.-4195_-4194insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		4009		chr11	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(27): Show ATATATATATATCATATATATAATATATATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02559.hp1 HG02922.hp1 others(2): Show HG01934.hp1 HG02559.hp1 HG02922.hp1 HG03540.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	109	0.0459	34	c.-30 others(45): Show c.-3011_-3010insATATAATATATATTATATATATGATATATATATA	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2982		chrX	TogoVar
LOC122319696_chrX_149409877_149420506	149418499	C C	CATATATA others(27): Show CATATATATAATATATATTATATTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	285	0.0035	34	c.-30 others(45): Show c.-3023_-3022insTATATATATATAATATAATATATATTATATATAT	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2994		chrX	TogoVar
LOC128031836_chr1_203797094_203807192	203804361	A A	ACAGGATG others(27): Show ACAGGATGGTCTCCATCTCCTGACCTCGTGATCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	34	c.21 others(45): Show c.2169_*2170insCAGGATGGTCTCCATCTCCTGACCTCGTGATCCG	LOC128031836	ENSG00000288644.1	transcript	ENST00000675181.1	protein_coding		2170		chr1	TogoVar
LOC128125816_chr12_122221430_122231564	122226363	A A	AGGGAGGC others(27): Show AGGGAGGCGGGGCCGGGCGGGAGGCGGGGCCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02145.hp2 others(13): Show HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02622.hp1 HG02976.hp2 HG03139.hp1 HG03453.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18955.hp2 NA18972.hp1 NA18974.hp1 NA19003.hp1 NA19030.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	16	321	0.0498	34	c.33 others(41): Show c.33_*66dupGCCCGGCCCCGCCTCCCGCCCGGCCCCGCCTCCC	LOC128125816	ENSG00000284934.3	transcript	ENST00000713558.1	protein_coding		66		chr12	TogoVar
LOC128462377_chr16_89312046_89423292	89415829	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19080.hp2 HG03195.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0200 a0001c0001t0001g0016 a0001c0001t0001g0200	2	115	0.0174	34	c.9+2 others(47): Show c.9+2454_9+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LONP1_chr19_5686834_5725146	5716259	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0002g0087 a0001c0001t0002g0096	2	62	0.0323	34	c.430 others(51): Show c.430-2022_430-1989dupATATATATATATATATATATATATATAT ATATAT	LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	1/17			chr19	TogoVar
LOXL2_chr8_23291897_23409120	23328709	A A	ATGTGTGT others(27): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0005 a0002c0014t0005	a0002c0014t0005g0116 a0002c0014t0005g0116	1	89	0.0112	34	c.967 others(49): Show c.967-178_967-145dupCACACACACACACACACACACACACACACA CACA	LOXL2	ENSG00000134013.16	transcript	ENST00000389131.8	protein_coding	5/13			chr8	TogoVar

Search by Variant

Search

Search Results