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
LAMA5_chr20_62304065_62372312	62349668	G G	GGGATGGT others(8): Show GGGATGGTGGGGGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02071.hp2 HG03239.hp2 HG00741.hp1 HG02071.hp2 HG03239.hp2	a0001 a0017 a0001 a0017	a0001c0010 a0017c0019 a0001c0010 a0017c0019	a0001c0010t0001 a0017c0019t0001 a0001c0010t0001 a0017c0019t0001	a0001c0010t0001g0125 a0017c0019t0001g0150 a0017c0019t0001g0152 a0001c0010t0001g0125 a0017c0019t0001g0150 a0017c0019t0001g0152	3	186	0.0161	15	c.956 others(32): Show c.956+2035_956+2036insTCACCCCCACCATCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349692	G G	GTGATGGT others(8): Show GTGATGGTGGGGGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02055.hp1 HG02451.hp1 others(14): Show HG00140.hp2 HG02055.hp1 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 HG03704.hp1 HG04115.hp1 NA18522.hp1 NA19010.hp1 NA19012.hp2	a0001 a0005 a0011 others(11): Show a0001 a0005 a0011 a0014 a0054 a0066 a0069 a0076 a0078 a0082 a0086 a0088 a0090 a0096	a0001c0001 a0005c0024 a0005c0025 others(13): Show a0001c0001 a0005c0024 a0005c0025 a0011c0013 a0011c0028 a0014c0053 a0054c0066 a0066c0032 a0069c0031 a0076c0128 a0078c0030 a0082c0056 a0086c0063 a0088c0055 a0090c0029 a0096c0103	a0001c0001t0001 a0005c0024t0001 a0005c0025t0001 others(13): Show a0001c0001t0001 a0005c0024t0001 a0005c0025t0001 a0011c0013t0001 a0011c0028t0001 a0014c0053t0001 a0054c0066t0001 a0066c0032t0001 a0069c0031t0001 a0076c0128t0001 a0078c0030t0001 a0082c0056t0001 a0086c0063t0001 a0088c0055t0001 a0090c0029t0001 a0096c0103t0001	a0001c0001t0001g0115 a0005c0024t0001g0007 a0005c0025t0001g0008 others(14): Show a0001c0001t0001g0115 a0005c0024t0001g0007 a0005c0025t0001g0008 a0011c0013t0001g0005 a0011c0013t0001g0006 a0011c0028t0001g0004 a0014c0053t0001g0063 a0054c0066t0001g0019 a0066c0032t0001g0178 a0069c0031t0001g0179 a0076c0128t0001g0026 a0078c0030t0001g0177 a0082c0056t0001g0035 a0086c0063t0001g0032 a0088c0055t0001g0034 a0090c0029t0001g0180 a0096c0103t0001g0100	17	186	0.0914	15	c.956 others(32): Show c.956+2011_956+2012insTCACCCCCACCATCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349822	G G	GTGATGGT others(8): Show GTGATGGTGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0170 a0008c0014t0001g0170	1	186	0.0054	15	c.956 others(32): Show c.956+1867_956+1881dupTCACCCCCACCATCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMB1_chr7_107918799_108008161	108005762	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0029 a0001c0022t0001g0029	1	364	0.0028	15	c.-27 others(26): Show c.-2739_-2738insTTTTTTTTTTTTTTT	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding		2602		chr7	TogoVar
LAMC1_chr1_183018420_183150592	183140245	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19058.hp2 NA19056.hp1 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	2	308	0.0065	15	c.447 others(32): Show c.4474-153_4474-139dupAAAAAAAAAAAAAAA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAMC3_chr9_131004174_131099473	131041366	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG04184.hp2 HG02135.hp2 HG04184.hp2	a0019 a0023 a0019 a0023	a0019c0160 a0023c0044 a0019c0160 a0023c0044	a0019c0160t0002 a0023c0044t0011 a0019c0160t0002 a0023c0044t0011	a0019c0160t0002g0091 a0023c0044t0011g0149 a0019c0160t0002g0091 a0023c0044t0011g0149	2	360	0.0056	15	c.128 others(32): Show c.1284-262_1284-261insAAAAAAAAAAAAAAA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131046518	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01099.hp1 others(5): Show HG00642.hp1 HG00738.hp2 HG01099.hp1 HG01257.hp1 HG02004.hp2 HG03490.hp2 HG03492.hp1 NA20129.hp2	a0005 a0010 a0019 others(1): Show a0005 a0010 a0019 a0020	a0005c0016 a0005c0175 a0010c0005 others(2): Show a0005c0016 a0005c0175 a0010c0005 a0019c0024 a0020c0006	a0005c0016t0003 a0005c0016t0017 a0005c0175t0003 others(3): Show a0005c0016t0003 a0005c0016t0017 a0005c0175t0003 a0010c0005t0003 a0019c0024t0001 a0020c0006t0044	a0005c0016t0003g0299 a0005c0016t0017g0286 a0005c0175t0003g0093 others(5): Show a0005c0016t0003g0299 a0005c0016t0017g0286 a0005c0175t0003g0093 a0010c0005t0003g0202 a0019c0024t0001g0271 a0019c0024t0001g0272 a0019c0024t0001g0273 a0020c0006t0044g0265	8	360	0.0222	15	c.151 others(32): Show c.1519+870_1519+884dupTTTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131086575	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01106.hp2 HG01109.hp1 others(43): Show HG00544.hp2 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01516.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG03516.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19074.hp1 NA19090.hp1	a0001 a0006 a0009 others(23): Show a0001 a0006 a0009 a0012 a0013 a0016 a0017 a0018 a0021 a0022 a0024 a0026 a0027 a0028 a0030 a0031 a0040 a0044 a0050 a0060 a0062 a0065 a0080 a0084 a0091 a0093	a0001c0004 a0001c0011 a0006c0023 others(35): Show a0001c0004 a0001c0011 a0006c0023 a0006c0045 a0006c0048 a0006c0122 a0006c0130 a0009c0008 a0009c0027 a0009c0030 a0009c0187 a0012c0017 a0012c0181 a0013c0019 a0016c0043 a0017c0068 a0017c0087 a0018c0009 a0018c0076 a0018c0084 a0021c0196 a0022c0191 a0024c0039 a0026c0050 a0027c0079 a0028c0223 a0030c0094 a0031c0025 a0040c0119 a0044c0165 a0050c0106 a0060c0186 a0062c0211 a0065c0207 a0080c0162 a0084c0219 a0091c0193 a0093c0088	a0001c0004t0001 a0001c0011t0001 a0006c0023t0001 others(35): Show a0001c0004t0001 a0001c0011t0001 a0006c0023t0001 a0006c0045t0002 a0006c0048t0002 a0006c0122t0002 a0006c0130t0002 a0009c0008t0002 a0009c0027t0002 a0009c0030t0002 a0009c0187t0002 a0012c0017t0001 a0012c0181t0001 a0013c0019t0004 a0016c0043t0001 a0017c0068t0002 a0017c0087t0026 a0018c0009t0001 a0018c0076t0001 a0018c0084t0001 a0021c0196t0002 a0022c0191t0002 a0024c0039t0001 a0026c0050t0001 a0027c0079t0002 a0028c0223t0002 a0030c0094t0001 a0031c0025t0006 a0040c0119t0004 a0044c0165t0001 a0050c0106t0025 a0060c0186t0002 a0062c0211t0002 a0065c0207t0001 a0080c0162t0002 a0084c0219t0007 a0091c0193t0006 a0093c0088t0002	a0001c0004t0001g0157 a0001c0011t0001g0077 a0006c0023t0001g0007 others(43): Show a0001c0004t0001g0157 a0001c0011t0001g0077 a0006c0023t0001g0007 a0006c0045t0002g0066 a0006c0048t0002g0068 a0006c0122t0002g0138 a0006c0130t0002g0238 a0009c0008t0002g0309 a0009c0008t0002g0310 a0009c0008t0002g0317 a0009c0008t0002g0319 a0009c0027t0002g0126 a0009c0027t0002g0127 a0009c0027t0002g0128 a0009c0030t0002g0318 a0009c0187t0002g0076 a0012c0017t0001g0102 a0012c0017t0001g0316 a0012c0181t0001g0280 a0013c0019t0004g0010 a0016c0043t0001g0166 a0017c0068t0002g0150 a0017c0087t0026g0172 a0018c0009t0001g0248 a0018c0009t0001g0257 a0018c0009t0001g0258 a0018c0076t0001g0053 a0018c0084t0001g0241 a0021c0196t0002g0306 a0022c0191t0002g0099 a0024c0039t0001g0239 a0026c0050t0001g0148 a0027c0079t0002g0022 a0028c0223t0002g0026 a0030c0094t0001g0139 a0031c0025t0006g0090 a0040c0119t0004g0199 a0044c0165t0001g0269 a0050c0106t0025g0001 a0060c0186t0002g0294 a0062c0211t0002g0355 a0065c0207t0001g0356 a0080c0162t0002g0350 a0084c0219t0007g0043 a0091c0193t0006g0103 a0093c0088t0002g0021	46	360	0.1278	15	c.423 others(32): Show c.4230+864_4230+865insTTTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP3_chr3_183117215_183167734	183149572	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18985.hp1 NA18945.hp2 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0013 a0001c0003t0002 a0001c0003t0013	a0001c0003t0002g0073 a0001c0003t0013g0025 a0001c0003t0002g0073 a0001c0003t0013g0025	2	372	0.0054	15	c.888 others(32): Show c.888+2802_888+2803insATATATATATATATA	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0055 a0001c0003t0002g0055	1	372	0.0027	15	c.888 others(32): Show c.888+2800_888+2801insATATATATATATATT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0075 a0001c0003t0002g0075	1	372	0.0027	15	c.888 others(32): Show c.888+2800_888+2801insATATATATATATATA	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183156364	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	372	0.0027	15	c.50- others(30): Show c.50-1988_50-1974dupGTTGTTGTTGTTGTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	1/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183167101	T T	TCATAACA others(8): Show TCATAACAGTAAGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	372	0.0027	15	c.-44 others(26): Show c.-4447_-4446insGGTCTTACTGTTATG	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding		4368		chr3	TogoVar
LANCL1_chr2_210426251_210481759	210464981	A A	AAAAAACA others(8): Show AAAAAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	358	0.0028	15	c.199 others(32): Show c.199+6977_199+6978insGTTGTTGTTGTTTTT	LANCL1	ENSG00000115365.13	transcript	ENST00000450366.7	protein_coding	3/9			chr2	TogoVar
LANCL2_chr7_55360337_55438737	55403444	A A	AGAGGGAG others(8): Show AGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01993.hp2 HG02055.hp1 others(17): Show HG01891.hp2 HG01993.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0006 a0001c0002 a0001c0004 a0004c0006	a0001c0002t0004 a0001c0004t0002 a0001c0004t0006 others(1): Show a0001c0002t0004 a0001c0004t0002 a0001c0004t0006 a0004c0006t0006	a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 others(17): Show a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0004t0002g0183 a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 a0001c0004t0006g0181 a0001c0004t0006g0182 a0001c0004t0006g0184 a0001c0004t0006g0185 a0001c0004t0006g0186 a0001c0004t0006g0187 a0001c0004t0006g0188 a0001c0004t0006g0189 a0001c0004t0006g0190 a0001c0004t0006g0191 a0001c0004t0006g0192 a0004c0006t0006g0179 a0004c0006t0006g0180	20	352	0.0568	15	c.825 others(32): Show c.825+2144_825+2158dupGAGAGGGAGAGGAGG	LANCL2	ENSG00000132434.10	transcript	ENST00000254770.3	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
LANCL3_chrX_37566661_37689463	37574054	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0183 a0001c0003t0005g0183	1	201	0.0050	15	c.573 others(32): Show c.573+1618_573+1632dupAAAAAAAAAAAAAAA	LANCL3	ENSG00000147036.12	transcript	ENST00000378619.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(8): Show TATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01109.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0015 a0001c0005t0003g0015	2	300	0.0067	15	c.218 others(30): Show c.218+246_218+247insATATATATATATGTA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LAPTM4A_chr2_20027650_20056628	20045584	T T	TTACAGTT others(8): Show TTACAGTTAACAGTTA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	424	0.0024	15	c.112 others(32): Show c.112-4574_112-4573insTAACTGTTAACTGTA	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97781278	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0003 a0001c0001t0007g0172 a0001c0001t0006g0003 a0001c0001t0007g0172	2	380	0.0053	15	c.99+ others(30): Show c.99+5177_99+5191dupTTTTTTTTTTTTTTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97832676	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00438.hp1 others(111): Show HG00099.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp2 HG02451.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG03239.hp2 HG03471.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18949.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0032 a0001c0001t0036 a0001c0002t0009 a0001c0002t0015 a0001c0002t0020 a0001c0002t0026 a0001c0004t0004 a0001c0004t0012 a0002c0003t0005 a0002c0003t0013	a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0057 others(111): Show a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0116 a0001c0001t0001g0147 a0001c0001t0001g0258 a0001c0001t0001g0293 a0001c0001t0001g0325 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0002g0261 a0001c0001t0002g0283 a0001c0001t0002g0338 a0001c0001t0002g0348 a0001c0001t0003g0033 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0149 a0001c0001t0003g0155 a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0274 a0001c0001t0003g0278 a0001c0001t0003g0281 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0296 a0001c0001t0003g0315 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0327 a0001c0001t0003g0331 a0001c0001t0003g0334 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0347 a0001c0001t0003g0354 a0001c0001t0003g0356 a0001c0001t0004g0013 a0001c0001t0004g0124 a0001c0001t0004g0164 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0200 a0001c0001t0004g0204 a0001c0001t0004g0209 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0220 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0237 a0001c0001t0005g0046 a0001c0001t0005g0059 a0001c0001t0007g0171 a0001c0001t0007g0179 a0001c0001t0007g0185 a0001c0001t0007g0196 a0001c0001t0007g0210 a0001c0001t0007g0229 a0001c0001t0010g0187 a0001c0001t0010g0195 a0001c0001t0010g0203 a0001c0001t0010g0225 a0001c0001t0011g0282 a0001c0001t0011g0349 a0001c0001t0012g0194 a0001c0001t0014g0173 a0001c0001t0014g0174 a0001c0001t0014g0206 a0001c0001t0014g0207 a0001c0001t0014g0208 a0001c0001t0016g0352 a0001c0001t0032g0318 a0001c0001t0036g0123 a0001c0002t0009g0167 a0001c0002t0009g0249 a0001c0002t0009g0251 a0001c0002t0009g0375 a0001c0002t0009g0377 a0001c0002t0009g0378 a0001c0002t0015g0168 a0001c0002t0015g0248 a0001c0002t0020g0376 a0001c0002t0020g0379 a0001c0002t0026g0244 a0001c0004t0004g0218 a0001c0004t0012g0219 a0001c0004t0012g0238 a0002c0003t0005g0351 a0002c0003t0013g0191 a0002c0003t0013g0217	114	380	0.3000	15	c.603 others(32): Show c.603+7538_603+7552dupATTTTATTTTATTTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97845868	A A	ACTCCCCT others(8): Show ACTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG03669.hp2 others(2): Show HG00280.hp2 HG01081.hp1 HG03669.hp2 HG03710.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0023 a0001c0001t0001 a0001c0001t0011 a0001c0001t0023	a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0011g0034 others(2): Show a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0011g0034 a0001c0001t0011g0280 a0001c0001t0023g0221	5	380	0.0132	15	c.604 others(32): Show c.604-5506_604-5492dupCCCCTCCCCTCCCCT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97850476	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0235 a0001c0001t0013g0235	1	380	0.0026	15	c.604 others(30): Show c.604-908_604-907insGTTGTGTGTGTGTGT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33333013	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02723.hp2 HG02809.hp1 others(4): Show HG01257.hp1 HG02723.hp2 HG02809.hp1 HG02970.hp1 HG03139.hp1 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0022 a0001c0003t0009	a0001c0001t0001g0047 a0001c0001t0005g0023 a0001c0001t0005g0027 others(4): Show a0001c0001t0001g0047 a0001c0001t0005g0023 a0001c0001t0005g0027 a0001c0002t0001g0013 a0001c0002t0001g0069 a0001c0002t0022g0103 a0001c0003t0009g0001	7	110	0.0636	15	c.128 others(34): Show c.1287+4632_1287+4633insAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	10/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33416906	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0091 a0001c0001t0026g0091	1	110	0.0091	15	c.892 others(34): Show c.892+15240_892+15254dupAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	7/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33441071	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 NA19030.hp1 HG01884.hp1 HG02451.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0024 a0001c0004t0001 a0001c0001t0005 a0001c0001t0024 a0001c0004t0001	a0001c0001t0005g0027 a0001c0001t0024g0101 a0001c0004t0001g0005 a0001c0001t0005g0027 a0001c0001t0024g0101 a0001c0004t0001g0005	3	110	0.0273	15	c.788 others(32): Show c.788-8821_788-8807dupAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33544684	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01192.hp1 HG01257.hp2 others(5): Show HG01071.hp1 HG01192.hp1 HG01257.hp2 HG02257.hp2 HG02451.hp2 HG02523.hp2 HG02683.hp1 NA19068.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0003c0011 a0004c0020	a0001c0001t0002 a0001c0001t0014 a0001c0001t0026 others(5): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0026 a0001c0001t0031 a0001c0002t0001 a0001c0008t0012 a0003c0011t0001 a0004c0020t0010	a0001c0001t0002g0088 a0001c0001t0014g0075 a0001c0001t0026g0091 others(5): Show a0001c0001t0002g0088 a0001c0001t0014g0075 a0001c0001t0026g0091 a0001c0001t0031g0109 a0001c0002t0001g0056 a0001c0008t0012g0094 a0003c0011t0001g0082 a0004c0020t0010g0008	8	110	0.0727	15	c.787 others(34): Show c.787+20163_787+20164insGTTGTTGTTGTTGTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33544691	A A	AACAACAA others(8): Show AACAACAACAACAACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01257.hp1 HG01884.hp1 others(14): Show HG01243.hp1 HG01257.hp1 HG01884.hp1 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0002t0001 a0001c0003t0009 a0001c0004t0013	a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0040 others(14): Show a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0004g0017 a0001c0001t0004g0045 a0001c0001t0005g0024 a0001c0001t0006g0065 a0001c0001t0007g0048 a0001c0001t0017g0074 a0001c0001t0024g0101 a0001c0001t0025g0087 a0001c0002t0001g0039 a0001c0003t0009g0001 a0001c0003t0009g0016 a0001c0004t0013g0102	17	110	0.1546	15	c.787 others(34): Show c.787+20156_787+20157insGGTTGTTGTTGTTGT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33606428	G G	GAAATAAA others(8): Show GAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp2 HG02897.hp2 others(4): Show HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0025 a0001c0002t0027 a0001c0004t0013	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0007g0048 others(4): Show a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0007g0048 a0001c0001t0013g0095 a0001c0001t0025g0087 a0001c0002t0027g0104 a0001c0004t0013g0102	7	110	0.0636	15	c.492 others(32): Show c.492-1885_492-1871dupTATTTTATTTTATTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	4/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33651225	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03098.hp1 HG02486.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0032 a0001c0001t0005 a0001c0003t0032	a0001c0001t0005g0024 a0001c0003t0032g0107 a0001c0001t0005g0024 a0001c0003t0032g0107	2	110	0.0182	15	c.107 others(30): Show c.107-572_107-558dupTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33713972	G G	GTAACGTA others(8): Show GTAACGTAACGTAACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03654.hp2 HG02818.hp1 HG03654.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0015 a0001c0004 a0005c0015	a0001c0004t0004 a0005c0015t0001 a0001c0004t0004 a0005c0015t0001	a0001c0004t0004g0077 a0005c0015t0001g0019 a0001c0004t0004g0077 a0005c0015t0001g0019	2	110	0.0182	15	c.106 others(34): Show c.106+47398_106+47399insTGTTACGTTACGTTA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33722251	A A	AGAGGGAG others(8): Show AGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp1 others(11): Show HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02451.hp1 HG02486.hp1 HG02647.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03453.hp2 HG03491.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005 a0002c0010 a0002c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0030 a0001c0002t0001 a0001c0003t0003 a0001c0003t0032 a0001c0004t0001 a0002c0005t0008 a0002c0010t0008 a0002c0018t0008	a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0006g0052 others(11): Show a0001c0001t0001g0053 a0001c0001t0001g0072 a0001c0001t0006g0052 a0001c0001t0007g0070 a0001c0001t0010g0073 a0001c0001t0013g0095 a0001c0001t0030g0106 a0001c0002t0001g0021 a0001c0003t0003g0062 a0001c0003t0032g0107 a0001c0004t0001g0005 a0002c0005t0008g0071 a0002c0010t0008g0054 a0002c0018t0008g0068	14	110	0.1273	15	c.106 others(34): Show c.106+39105_106+39119dupCTCTCCCTCTCCCTC	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33748024	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	110	0.0091	15	c.106 others(34): Show c.106+13332_106+13346dupTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33842909	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp1 HG02258.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0007t0004 a0001c0001t0007 a0001c0007t0004	a0001c0001t0007g0046 a0001c0007t0004g0061 a0001c0001t0007g0046 a0001c0007t0004g0061	2	110	0.0182	15	c.-83 others(34): Show c.-83+77071_-83+77085dupTGTTTTGTTTTGTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33878129	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp2 HG03139.hp2 others(2): Show HG01496.hp1 HG02055.hp2 HG03139.hp2 HG03471.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0002t0027 a0001c0006t0004	a0001c0001t0006g0065 a0001c0001t0007g0048 a0001c0001t0017g0074 others(2): Show a0001c0001t0006g0065 a0001c0001t0007g0048 a0001c0001t0017g0074 a0001c0002t0027g0104 a0001c0006t0004g0064	5	110	0.0455	15	c.-83 others(34): Show c.-83+41851_-83+41865dupAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128062592	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0281 a0006c0005t0005g0281	1	336	0.0030	15	c.-78 others(32): Show c.-78+1195_-78+1209dupTTTTTTTTTTTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128064609	A A	AGCAAAGA others(8): Show AGCAAAGAAAGAAAAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	336	0.0030	15	c.-78 others(32): Show c.-78+3209_-78+3223dupGCAAAGAAAGAAAAC	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATACATAT others(8): Show ATACATATATATATTT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0096 a0002c0002t0012g0096	1	336	0.0030	15	c.813 others(30): Show c.813+438_813+439insACATATATATATTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18941.hp1 HG02004.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0121 a0002c0002t0002g0071 a0002c0002t0002g0121	2	336	0.0060	15	c.813 others(30): Show c.813+438_813+439insATATATATATATATT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18969.hp1 HG01106.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0078 a0002c0002t0002g0080	2	336	0.0060	15	c.813 others(30): Show c.813+438_813+439insATATATATATATTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098767	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19005.hp2 HG03834.hp1 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0084 a0002c0002t0002g0284 a0002c0002t0002g0084 a0002c0002t0002g0284	2	336	0.0060	15	c.813 others(30): Show c.813+438_813+439insATATATATATTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098768	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	336	0.0030	15	c.813 others(30): Show c.813+438_813+439insATATATATATATATA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19			chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098768	T T	TATATATA others(8): Show TATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0283 a0006c0005t0005g0283	1	336	0.0030	15	c.813 others(30): Show c.813+438_813+439insATATATATATATATG	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19			chr4	TogoVar
LARP4_chr12_50395885_50485004	50426684	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	318	0.0031	15	c.19- others(30): Show c.19-1078_19-1077insTGTGTGTGTGTGTGT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	1/15			chr12	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03927.hp2 NA18973.hp1 others(1): Show HG01261.hp1 HG03927.hp2 NA18973.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0251 a0001c0001t0001g0272 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0251 a0001c0001t0001g0272 a0001c0001t0001g0283	4	318	0.0126	15	c.804 others(32): Show c.804+4787_804+4788insATATATATATATATT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19030.hp2 HG02970.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0316 a0001c0001t0001g0235 a0001c0001t0001g0316	2	318	0.0063	15	c.804 others(32): Show c.804+4787_804+4788insATATATATATATTTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	318	0.0031	15	c.804 others(32): Show c.804+4787_804+4788insATATATATTTTTTTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446430	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01109.hp1 HG00597.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0007 a0001c0001t0001 a0001c0006t0007	a0001c0001t0001g0192 a0001c0006t0007g0110 a0001c0001t0001g0192 a0001c0006t0007g0110	2	318	0.0063	15	c.804 others(32): Show c.804+4787_804+4788insATATATATATATATA	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15			chr12	TogoVar
LARP7_chr4_112632143_112662586	112647587	A A	ATTTTAAT others(8): Show ATTTTAATTAATTAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01106.hp1 others(24): Show HG00408.hp2 HG00639.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01993.hp2 HG02293.hp2 HG02486.hp1 HG02698.hp1 HG03491.hp1 HG03688.hp2 HG03942.hp1 NA18747.hp2 NA18939.hp2 NA18957.hp2 NA18963.hp2 NA18966.hp1 NA18971.hp2 NA18979.hp2 NA18989.hp1 NA18998.hp1 NA19007.hp1 NA19064.hp2 NA19065.hp2 NA19091.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0027 others(14): Show a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0175 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0231	27	420	0.0643	15	c.997 others(28): Show c.997+53_997+67dupTTTTTAATTAATTAG	LARP7	ENSG00000174720.18	transcript	ENST00000344442.10	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARS1_chr5_146108034_146187650	146111100	T T	TATAATAA others(8): Show TATAATAATAATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp2 others(48): Show HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01257.hp2 HG01361.hp2 HG01943.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02132.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18944.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18960.hp2 NA18965.hp2 NA18969.hp2 NA18972.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0011 a0002c0002 a0004c0011	a0002c0002t0002 a0004c0011t0002 a0002c0002t0002 a0004c0011t0002	a0002c0002t0002g0202 a0002c0002t0002g0207 a0002c0002t0002g0208 others(48): Show a0002c0002t0002g0202 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0004c0011t0002g0238	51	284	0.1796	15	c.29 others(26): Show c.2991_*3005dupTATTATTATTATTAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding		1933		chr5	TogoVar
LARS2_chr3_45383576_45554407	45430029	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03516.hp1 HG02896.hp2 HG02897.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0162 a0001c0002t0003g0140 a0001c0002t0003g0142 a0001c0002t0003g0162	3	242	0.0124	15	c.516 others(34): Show c.516+10300_516+10301insTTTTTTTTTTTTTTG	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	6/21			chr3	TogoVar

Search by Variant

Search

Search Results