Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	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
L1TD1_chr1_62189849_62217328	62209972	ACCTCAGG others(23): Show ACCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG01109.hp1 HG01243.hp2 others(12): Show HG00323.hp1 HG01109.hp1 HG01243.hp2 HG01515.hp2 HG01517.hp2 HG02257.hp2 HG02572.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03490.hp1 HG04115.hp2 HG04204.hp1 NA20129.hp2	a0006 a0015 a0018 a0006 a0015 a0018	a0006c0011 a0006c0012 a0006c0029 others(2): Show a0006c0011 a0006c0012 a0006c0029 a0015c0021 a0018c0019	a0006c0011t0011 a0006c0011t0026 a0006c0012t0013 others(4): Show a0006c0011t0011 a0006c0011t0026 a0006c0012t0013 a0006c0012t0017 a0006c0029t0013 a0015c0021t0011 a0018c0019t0001	a0006c0011t0011g0020 a0006c0011t0011g0294 a0006c0011t0011g0295 others(11): Show a0006c0011t0011g0020 a0006c0011t0011g0294 a0006c0011t0011g0295 a0006c0011t0011g0296 a0006c0011t0026g0020 a0006c0012t0013g0063 a0006c0012t0013g0064 a0006c0012t0013g0065 a0006c0012t0013g0066 a0006c0012t0017g0052 a0006c0012t0017g0053 a0006c0029t0013g0062 a0015c0021t0011g0297 a0018c0019t0001g0054	15	412	0.0364	-30	c.121 others(39): Show c.1218_1247delGGAGGAAGAGCCCTCAGGGCTGGAGGAGGA	p.Glu others(13): Show p.Glu407_Glu416del	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	4/4	1495/3831	1218/2598	406/865		INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL4_chr18_5949717_6419911	5958056	GAGAAGGA others(23): Show GAGAAGGAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19002.hp1 HG03579.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0020 a0001c0001t0004g0076 a0001c0001t0002g0020 a0001c0001t0004g0076	2	84	0.0238	-30	c.167 others(49): Show c.1678-1699_1678-1670delTCTTCTTCTTCTTCTTCTTCTTCTCC TTCT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5958100	GAAGAAGA others(23): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01981.hp2 HG03195.hp2 others(2): Show HG01099.hp2 HG01981.hp2 HG03195.hp2 HG03516.hp1 NA19002.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0009 a0001c0001 a0001c0003 a0005c0009	a0001c0001t0002 a0001c0003t0002 a0005c0009t0002 a0001c0001t0002 a0001c0003t0002 a0005c0009t0002	a0001c0001t0002g0006 a0001c0001t0002g0033 a0001c0001t0002g0067 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0033 a0001c0001t0002g0067 a0001c0003t0002g0058 a0005c0009t0002g0012	5	91	0.0549	-30	c.167 others(49): Show c.1678-1743_1678-1714delTTTCTTCTTCTTCTTCTTCTTCTTCT TCTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	5972862	TAGAATAG others(23): Show TAGAATAGAATAGAATAGAATAGAACAGAAG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02897.hp2 HG02970.hp1 others(6): Show HG02559.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03516.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0007t0002 a0002c0002t0001	a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0004g0015 others(6): Show a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0004g0015 a0001c0001t0005g0057 a0001c0001t0005g0075 a0001c0001t0005g0094 a0001c0007t0002g0081 a0002c0002t0001g0032 a0002c0002t0001g0084	9	92	0.0978	-30	c.144 others(49): Show c.1445-3330_1445-3301delCTTCTGTTCTATTCTATTCTATTCTA TTCT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18						chr18	TogoVar
LACTB2_chr8_70632266_70674185	70672656	GCGGTTGT others(23): Show GCGGTTGTACTAATTTACATTCCCACCAACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	350	0.0029	-30	c.-35 others(41): Show c.-3566_-3537delAGTTGGTGGGAATGTAAATTAGTACAACCG		LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding					3472		chr8	TogoVar
LAIR1_chr19_54346384_54369931	54349293	AAGGGAGG others(23): Show AAGGGAGGACACAGATCCTGAGGGTGGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00558.hp2 others(81): Show HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG01106.hp2 HG01175.hp1 HG01255.hp1 HG01361.hp2 HG01975.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18941.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA18992.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0002g0018 a0001c0002t0001g0074	84	460	0.1826	-30	c.59 others(41): Show c.5945_*5974delCCATCCACCCTCAGGATCTGTGTCCTCCCT		LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding					2090		chr19	TogoVar
LAIR1_chr19_54346384_54369931	54349547	ACAGATCC others(23): Show ACAGATCCTGAGGATGGATGGAGGGAGGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02896.hp2 HG02886.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	436	0.0046	-30	c.56 others(41): Show c.5691_*5720delCGTCCTCCCTCCATCCATCCTCAGGATCTG		LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding					1836		chr19	TogoVar
LAMA1_chr18_6936742_7122797	7021812	ATAATATA others(23): Show ATAATATATATTATATAATATAATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(46): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03831.hp2 HG04184.hp1 NA18612.hp2 NA18954.hp2 NA18960.hp1 NA18988.hp2 NA18995.hp1 NA19082.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(31): Show a0001 a0002 a0003 a0006 a0007 a0008 a0011 a0012 a0013 a0018 a0019 a0023 a0024 a0027 a0031 a0035 a0036 a0044 a0045 a0047 a0048 a0051 a0055 a0057 a0062 a0064 a0070 a0074 a0091 a0098 a0100 a0101 a0106 a0121	a0001c0161 a0002c0146 a0003c0160 others(42): Show a0001c0161 a0002c0146 a0003c0160 a0006c0008 a0006c0183 a0006c0192 a0006c0196 a0006c0204 a0006c0205 a0007c0155 a0008c0137 a0008c0143 a0011c0180 a0011c0181 a0011c0191 a0012c0154 a0013c0026 a0013c0184 a0018c0176 a0018c0188 a0018c0189 a0019c0152 a0023c0024 a0024c0179 a0027c0148 a0031c0025 a0035c0182 a0036c0190 a0044c0186 a0045c0195 a0047c0040 a0048c0147 a0051c0194 a0055c0197 a0057c0029 a0062c0044 a0064c0053 a0070c0149 a0074c0207 a0091c0043 a0098c0051 a0100c0140 a0101c0045 a0106c0187 a0121c0046	a0001c0161t0001 a0002c0146t0002 a0003c0160t0002 others(43): Show a0001c0161t0001 a0002c0146t0002 a0003c0160t0002 a0006c0008t0002 a0006c0183t0002 a0006c0192t0001 a0006c0196t0001 a0006c0204t0002 a0006c0205t0002 a0007c0155t0001 a0008c0137t0001 a0008c0143t0001 a0011c0180t0001 a0011c0181t0002 a0011c0191t0001 a0012c0154t0002 a0013c0026t0001 a0013c0026t0002 a0013c0184t0002 a0018c0176t0002 a0018c0188t0002 a0018c0189t0001 a0019c0152t0001 a0023c0024t0002 a0024c0179t0001 a0027c0148t0001 a0031c0025t0002 a0035c0182t0001 a0036c0190t0001 a0044c0186t0002 a0045c0195t0002 a0047c0040t0001 a0048c0147t0002 a0051c0194t0002 a0055c0197t0002 a0057c0029t0001 a0062c0044t0001 a0064c0053t0001 a0070c0149t0002 a0074c0207t0002 a0091c0043t0002 a0098c0051t0001 a0100c0140t0001 a0101c0045t0003 a0106c0187t0002 a0121c0046t0001	a0001c0161t0001g0154 a0002c0146t0002g0096 a0003c0160t0002g0036 others(46): Show a0001c0161t0001g0154 a0002c0146t0002g0096 a0003c0160t0002g0036 a0006c0008t0002g0028 a0006c0008t0002g0091 a0006c0183t0002g0035 a0006c0192t0001g0132 a0006c0196t0001g0189 a0006c0204t0002g0045 a0006c0205t0002g0088 a0007c0155t0001g0134 a0008c0137t0001g0237 a0008c0143t0001g0274 a0011c0180t0001g0250 a0011c0181t0002g0068 a0011c0191t0001g0229 a0012c0154t0002g0010 a0013c0026t0001g0249 a0013c0026t0002g0047 a0013c0184t0002g0077 a0018c0176t0002g0015 a0018c0188t0002g0020 a0018c0189t0001g0167 a0019c0152t0001g0228 a0023c0024t0002g0063 a0023c0024t0002g0064 a0024c0179t0001g0212 a0027c0148t0001g0278 a0031c0025t0002g0029 a0031c0025t0002g0098 a0035c0182t0001g0133 a0036c0190t0001g0138 a0044c0186t0002g0052 a0045c0195t0002g0060 a0047c0040t0001g0170 a0048c0147t0002g0019 a0051c0194t0002g0042 a0055c0197t0002g0073 a0057c0029t0001g0122 a0062c0044t0001g0192 a0064c0053t0001g0257 a0070c0149t0002g0111 a0074c0207t0002g0027 a0091c0043t0002g0114 a0098c0051t0001g0276 a0100c0140t0001g0246 a0101c0045t0003g0130 a0106c0187t0002g0069 a0121c0046t0001g0253	49	263	0.1863	-30	c.270 others(49): Show c.2701+1322_2701+1351delATATATTATTATATTATATAATATAT ATTA		LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	19/62						chr18	TogoVar
LAMA2_chr6_128878138_129521566	128961318	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02451.hp2 HG02647.hp2	a0002 a0010 a0002 a0010	a0002c0029 a0010c0034 a0002c0029 a0010c0034	a0002c0029t0002 a0010c0034t0002 a0002c0029t0002 a0010c0034t0002	a0002c0029t0002g0074 a0010c0034t0002g0036 a0002c0029t0002g0074 a0010c0034t0002g0036	2	8	0.2500	-30	c.112 others(49): Show c.112+77982_112+78011delATATATATATATATATATATATATAT ATAT		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129200196	ATGTACAC others(23): Show ATGTACACATATACATGTGTATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03710.hp1 HG00323.hp2 HG03710.hp1	a0003 a0015 a0003 a0015	a0003c0041 a0015c0069 a0003c0041 a0015c0069	a0003c0041t0004 a0015c0069t0004 a0003c0041t0004 a0015c0069t0004	a0003c0041t0004g0059 a0015c0069t0004g0066 a0003c0041t0004g0059 a0015c0069t0004g0066	2	77	0.0260	-30	c.178 others(49): Show c.1782+7423_1782+7452delATATATATACGTGTACACATATACAT GTGT		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMC1_chr1_183018420_183150592	183150159	CTCACACC others(23): Show CTCACACCCCTCTCCTCACACACCACACAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0279 a0001c0003t0002g0279	1	306	0.0033	-30	c.73 others(41): Show c.7370_*7399delTCACACCCCTCTCCTCACACACCACACAGT		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding					4568		chr1	TogoVar
LAMP1_chr13_113292239_113328672	113301636	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0276 a0001c0001t0030g0276	1	350	0.0029	-30	c.61+ others(45): Show c.61+4143_61+4172delAAAAAAAATATATATATATATATATATATA		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301638	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0294 a0003c0003t0002g0294	1	335	0.0030	-30	c.61+ others(45): Show c.61+4145_61+4174delAAAAAATATATATATATATATATATATATA		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301640	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0293 a0003c0003t0002g0293	1	233	0.0043	-30	c.61+ others(45): Show c.61+4147_61+4176delAAAATATATATATATATATATATATATATA		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301642	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0018 a0010c0012t0001 a0001c0001t0018 a0010c0012t0001	a0001c0001t0018g0285 a0010c0012t0001g0034 a0001c0001t0018g0285 a0010c0012t0001g0034	2	296	0.0068	-30	c.61+ others(45): Show c.61+4149_61+4178delAATATATATATATATATATATATATATATA		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMTOR3_chr4_99873336_99899427	99879931	ACTACTAC others(23): Show ACTACTACACACCTAGGCTATATGGTATAGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0071 a0001c0001t0021g0071	1	194	0.0052	-30	c.20 others(41): Show c.2033_*2062delGCTATACCATATAGCCTAGGTGTGTAGTAG		LAMTOR3	ENSG00000109270.13	transcript	ENST00000499666.7	protein_coding	7/7				2033		chr4	TogoVar
LAPTM4B_chr8_97770788_97858013	97821538	TGGATGTA others(23): Show TGGATGTAGGGGTGGACAGGTGAGGACGTGA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG01081.hp2 others(31): Show HG00733.hp1 HG00738.hp2 HG01081.hp2 HG01891.hp1 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0022 a0001c0001t0028 a0001c0001t0033 a0001c0002t0017 a0001c0002t0018 a0003c0006t0005	a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0358 others(31): Show a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0364 a0001c0001t0002g0367 a0001c0001t0003g0013 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0003g0262 a0001c0001t0005g0010 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0005g0049 a0001c0001t0005g0157 a0001c0001t0006g0002 a0001c0001t0006g0041 a0001c0001t0006g0118 a0001c0001t0006g0161 a0001c0001t0007g0171 a0001c0001t0008g0011 a0001c0001t0010g0230 a0001c0001t0022g0048 a0001c0001t0028g0363 a0001c0001t0033g0047 a0001c0002t0017g0238 a0001c0002t0017g0239 a0001c0002t0018g0165 a0003c0006t0005g0034	34	378	0.0899	-30	c.507 others(47): Show c.507+2305_507+2334delGTAGGGGTGGACAGGTGAGGACGTGAGG AT		LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33394715	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02451.hp2 others(1): Show HG01243.hp2 HG02258.hp2 HG02451.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0006t0029	a0001c0001t0001g0044 a0001c0001t0013g0095 a0001c0001t0014g0075 others(1): Show a0001c0001t0001g0044 a0001c0001t0013g0095 a0001c0001t0014g0075 a0001c0006t0029g0108	4	108	0.0370	-30	c.893 others(49): Show c.893-10441_893-10412delTACACACACACACACACACACACACA CACA		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	7/14						chr22	TogoVar
LARGE1_chr22_33267509_33925476	33574686	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0016 a0001c0003t0009g0016	1	4	0.2500	-30	c.616 others(47): Show c.616-9697_616-9668delCACACACACACACACACACACACACACA CA		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	5/14						chr22	TogoVar
LARGE1_chr22_33267509_33925476	33766913	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02258.hp1 HG02717.hp2 others(3): Show HG01099.hp2 HG02258.hp1 HG02717.hp2 HG02818.hp1 HG03098.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0004t0004 a0001c0004t0005 a0001c0007t0004	a0001c0001t0001g0009 a0001c0001t0005g0024 a0001c0001t0007g0048 others(3): Show a0001c0001t0001g0009 a0001c0001t0005g0024 a0001c0001t0007g0048 a0001c0004t0004g0077 a0001c0004t0005g0026 a0001c0007t0004g0061	6	14	0.4286	-30	c.-82 others(47): Show c.-82-5385_-82-5356delATATATATATATATATATATATATATAT AT		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14						chr22	TogoVar
LARGE1_chr22_33267509_33925476	33777652	GGGAGGGG others(23): Show GGGAGGGGGAGGGGAAGGGGAAGGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp1 others(14): Show HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03453.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0019 a0002c0005 a0002c0010 a0002c0018	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0028 a0001c0001t0030 a0001c0002t0001 a0001c0002t0006 a0001c0003t0003 a0001c0009t0003 a0001c0019t0003 a0002c0005t0008 a0002c0010t0008 a0002c0018t0008	a0001c0001t0001g0044 a0001c0001t0001g0072 a0001c0001t0005g0028 others(14): Show a0001c0001t0001g0044 a0001c0001t0001g0072 a0001c0001t0005g0028 a0001c0001t0006g0007 a0001c0001t0006g0052 a0001c0001t0007g0070 a0001c0001t0010g0073 a0001c0001t0028g0105 a0001c0001t0030g0106 a0001c0002t0001g0069 a0001c0002t0006g0080 a0001c0003t0003g0062 a0001c0009t0003g0084 a0001c0019t0003g0025 a0002c0005t0008g0071 a0002c0010t0008g0054 a0002c0018t0008g0068	17	107	0.1589	-30	c.-82 others(49): Show c.-82-16124_-82-16095delTCCTTCTCCTTCCCCTTCCCCTCCCC CTCC		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14						chr22	TogoVar
LARGE1_chr22_33267509_33925476	33785082	CATATGTG others(23): Show CATATGTGTATATACATGTGTATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02451.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0032 a0001c0004t0001 a0001c0003t0032 a0001c0004t0001	a0001c0003t0032g0107 a0001c0004t0001g0005 a0001c0003t0032g0107 a0001c0004t0001g0005	2	78	0.0256	-30	c.-82 others(49): Show c.-82-23554_-82-23525delATGTATGTATACACATGTATATACAC ATAT		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14						chr22	TogoVar
LARP1B_chr4_128056312_128216988	128130419	GCAAATAT others(23): Show GCAAATATGCATATGAAAAGATGCTCAACAT	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	334	0.0030	-30	c.152 others(49): Show c.1524+8239_1524+8268delGCATATGAAAAGATGCTCAACATCAA ATAT		LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19					INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128204203	ACTTCTCC others(23): Show ACTTCTCCAGAAATAAAGAGAGATACTGAGG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(22): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp2 NA18945.hp2 NA18946.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18984.hp1 NA18990.hp2 NA19002.hp2 NA19005.hp1 NA19011.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19078.hp2 NA19081.hp2 NA19085.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0001 a0002c0002 a0004c0007 others(1): Show a0001c0001 a0002c0002 a0004c0007 a0013c0013	a0001c0001t0004 a0002c0002t0011 a0004c0007t0004 others(1): Show a0001c0001t0004 a0002c0002t0011 a0004c0007t0004 a0013c0013t0004	a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 others(22): Show a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0321 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0335 a0002c0002t0011g0034 a0002c0002t0011g0053 a0004c0007t0004g0242 a0013c0013t0004g0315	25	334	0.0749	-30	c.231 others(49): Show c.2310-2220_2310-2191delTCCAGAAATAAAGAGAGATACTGAGG CTTC		LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	17/19					INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4_chr12_50395885_50485004	50422781	ATATTATT others(23): Show ATATTATTATTATTATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG03225.hp2 others(1): Show HG01109.hp1 HG02572.hp1 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0010 a0001c0006 a0001c0010	a0001c0006t0007 a0001c0010t0007 a0001c0006t0007 a0001c0010t0007	a0001c0006t0007g0109 a0001c0006t0007g0110 a0001c0006t0007g0111 others(1): Show a0001c0006t0007g0109 a0001c0006t0007g0110 a0001c0006t0007g0111 a0001c0010t0007g0112	4	50	0.0800	-30	c.19- others(45): Show c.19-4958_19-4929delATTATTATTATTATTATTATTATTATTATT		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LAT2_chr7_74205006_74234834	74214333	AATATATA others(23): Show AATATATATATATGAAAATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18945.hp2 NA19000.hp2 HG02132.hp1 NA18945.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0118 a0001c0001t0001g0173 a0001c0001t0001g0002 a0001c0001t0001g0118 a0001c0001t0001g0173	3	246	0.0122	-30	c.-21 others(47): Show c.-218-478_-218-449delATGAAAATATATATATAAATATATATAT AT		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214389	AATATATA others(23): Show AATATATATATATGAAAATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp1 NA18939.hp1 HG00597.hp2 HG02015.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0067 a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0067	3	309	0.0097	-30	c.-21 others(47): Show c.-218-422_-218-393delATGAAAATATATATATAAATATATATAT AT		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LCE4A_chr1_152703160_152714434	152710006	CTCTCTCT others(23): Show CTCTCTCTCTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	-30	c.63 others(39): Show c.632_*661delTCTCTCTCTGTGTGTGTGTGTGTGTGTGTG		LCE4A	ENSG00000187170.6	transcript	ENST00000368777.2	protein_coding					573		chr1	TogoVar
LCLAT1_chr2_30442246_30649225	30607845	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01934.hp2 HG02486.hp2 others(6): Show HG01074.hp2 HG01934.hp2 HG02486.hp2 HG02572.hp1 HG02895.hp2 HG02897.hp1 HG03209.hp1 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0018 a0001c0001t0043 a0001c0001t0012 a0001c0001t0018 a0001c0001t0043	a0001c0001t0012g0336 a0001c0001t0012g0337 a0001c0001t0012g0338 others(6): Show a0001c0001t0012g0336 a0001c0001t0012g0337 a0001c0001t0012g0338 a0001c0001t0012g0339 a0001c0001t0012g0340 a0001c0001t0018g0005 a0001c0001t0018g0006 a0001c0001t0018g0007 a0001c0001t0043g0335	9	10	0.9000	-30	c.629 others(49): Show c.629-32246_629-32217delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT		LCLAT1	ENSG00000172954.14	transcript	ENST00000379509.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
LCN1_chr9_135516440_135531540	135529097	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	-30	c.27 others(41): Show c.2756_*2785delAAAATAAAATAAAATAAAATAAAATAAAAT		LCN1	ENSG00000160349.10	transcript	ENST00000371781.4	protein_coding					2558		chr9	TogoVar
LCORL_chr4_17836187_18026755	17998979	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp2 HG03225.hp1 HG01243.hp2 HG02572.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0236 a0001c0003t0003g0237 a0001c0003t0003g0259 a0001c0003t0003g0236 a0001c0003t0003g0237 a0001c0003t0003g0259	3	288	0.0104	-30	c.154 others(49): Show c.154+22589_154+22618delGTGTGTATATATATATATATATATTT TTTT		LCORL	ENSG00000178177.17	transcript	ENST00000635767.2	protein_coding	1/7						chr4	TogoVar
LCORL_chr4_17836187_18026755	17998981	AAAAAATA others(23): Show AAAAAATATATATATATATATATACACACAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02622.hp1 NA18522.hp1 HG02040.hp1 HG02622.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0022 a0001c0003t0003 a0001c0003t0022	a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0022g0243 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0022g0243	3	287	0.0105	-30	c.154 others(49): Show c.154+22587_154+22616delATGTGTGTATATATATATATATATAT TTTT		LCORL	ENSG00000178177.17	transcript	ENST00000635767.2	protein_coding	1/7						chr4	TogoVar
LCOR_chr10_96827298_97000956	96920489	TATATATG others(23): Show TATATATGTGTATATATGTATGTATATTCAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG00741.hp1 others(24): Show HG00639.hp1 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG02922.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG04115.hp2 HG04228.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 others(17): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0041 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063	a0001c0001t0011g0004 a0001c0001t0011g0138 a0001c0001t0011g0176 others(24): Show a0001c0001t0011g0004 a0001c0001t0011g0138 a0001c0001t0011g0176 a0001c0001t0013g0150 a0001c0001t0013g0151 a0001c0001t0013g0152 a0001c0001t0021g0137 a0001c0001t0021g0139 a0001c0001t0022g0130 a0001c0001t0022g0159 a0001c0001t0024g0224 a0001c0001t0024g0242 a0001c0001t0041g0131 a0001c0001t0049g0148 a0001c0001t0050g0140 a0001c0001t0051g0141 a0001c0001t0052g0132 a0001c0001t0054g0142 a0001c0001t0055g0135 a0001c0001t0056g0133 a0001c0001t0057g0144 a0001c0001t0058g0134 a0001c0001t0059g0143 a0001c0001t0060g0149 a0001c0001t0061g0127 a0001c0001t0062g0128 a0001c0001t0063g0136	27	285	0.0947	-30	c.-18 others(51): Show c.-184+12772_-184+12801delGATATATGTGTATATATGTATGTA TATTCA		LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
LCP2_chr5_170241233_170302777	170278388	AGGGGGAT others(23): Show AGGGGGATGGGAGTGCAGGGGTTGGGGGCGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0340 a0001c0002t0001g0340	1	382	0.0026	-30	c.189 others(47): Show c.189-2558_189-2529delCCGCCCCCAACCCCTGCACTCCCATCCC CC		LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	3/20						chr5	TogoVar
LCTL_chr15_66542532_66570998	66568863	CACACACA others(23): Show CACACACACACACATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	415	0.0024	-30	c.-30 others(41): Show c.-3059_-3030delATATATATATATATATATGTGTGTGTGTGT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2866		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568865	CACACACA others(23): Show CACACACACACATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG06807.hp2 HG02630.hp2 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0003 a0001c0001t0001 a0001c0012t0003	a0001c0001t0001g0001 a0001c0001t0001g0114 a0001c0012t0003g0237 a0001c0001t0001g0001 a0001c0001t0001g0114 a0001c0012t0003g0237	3	341	0.0088	-30	c.-30 others(41): Show c.-3061_-3032delATATATATATATATATATATGTGTGTGTGT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2868		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568867	CACACACA others(23): Show CACACACACATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	377	0.0027	-30	c.-30 others(41): Show c.-3063_-3034delATATATATATATATATATATATGTGTGTGT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2870		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568869	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01261.hp2 HG01884.hp2 others(12): Show HG00140.hp1 HG01261.hp2 HG01884.hp2 HG01952.hp2 HG02523.hp1 HG04228.hp1 NA18947.hp1 NA18953.hp2 NA18956.hp1 NA18974.hp2 NA18978.hp1 NA18982.hp1 NA19000.hp2 NA19001.hp1 NA19011.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0037 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0151 a0006c0009t0001g0061	15	384	0.0391	-30	c.-30 others(41): Show c.-3065_-3036delATATATATATATATATATATATATGTGTGT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2872		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568871	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA19003.hp2 NA19076.hp1 NA18970.hp2 NA19003.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0048 a0001c0001t0001g0212 a0001c0001t0001g0213	3	336	0.0089	-30	c.-30 others(41): Show c.-3067_-3038delATATATATATATATATATATATATATGTGT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2874		chr15	TogoVar
LCTL_chr15_66542532_66570998	66568875	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	388	0.0026	-30	c.-30 others(41): Show c.-3071_-3042delATATATATATATATATATATATATATATAT		LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding					2878		chr15	TogoVar
LDAH_chr2_20679031_20828101	20704979	ACTTCCCT others(23): Show ACTTCCCTTTGCCACTTCTCTGGACTGGATT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	256	0.0039	-30	c.704 others(47): Show c.704-3357_704-3328delAATCCAGTCCAGAGAAGTGGCAAAGGGA AG		LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6						chr2	TogoVar
LDB2_chr4_16496541_16903645	16755522	TGTATGTG others(23): Show TGTATGTGAGAGAGAGAGAGACAGACAGACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00741.hp1 others(25): Show HG00099.hp1 HG00423.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp1 HG01169.hp2 HG01258.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02129.hp2 HG02132.hp2 HG02258.hp1 HG02293.hp2 HG02451.hp1 HG02602.hp2 HG03195.hp1 HG03195.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18984.hp2 NA18986.hp2 NA19003.hp1 NA19057.hp2 NA19079.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0052 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0149 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0059 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0141 a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0116 a0001c0001t0003g0139 a0001c0001t0006g0092 a0001c0001t0010g0162 a0001c0003t0001g0056	28	159	0.1761	-30	c.235 others(47): Show c.235+3606_235+3635delTGTCTGTCTGTCTCTCTCTCTCTCACAT AC		LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7						chr4	TogoVar
LDB2_chr4_16496541_16903645	16897916	ATATATAT others(23): Show ATATATATATATATATATATATACACATATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	160	0.0063	-30	c.132 others(45): Show c.132+408_132+437delCATATGTGTATATATATATATATATATATA		LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	1/7						chr4	TogoVar
LDHAL6A_chr11_18450856_18484601	18453598	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00733.hp1 others(22): Show HG00323.hp1 HG00408.hp1 HG00733.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01358.hp2 HG01433.hp2 HG01981.hp1 HG02074.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 NA18906.hp2 NA18946.hp1 NA18962.hp2 NA18968.hp1 NA18977.hp2 NA19070.hp2 NA19075.hp2 NA19079.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0001c0001t0028 a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0001c0002t0018 a0001c0002t0027 a0001c0002t0029 a0001c0002t0030	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0007g0001 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0007g0001 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0021g0032 a0001c0001t0028g0087 a0001c0002t0001g0266 a0001c0002t0007g0238 a0001c0002t0007g0248 a0001c0002t0007g0254 a0001c0002t0007g0255 a0001c0002t0007g0256 a0001c0002t0007g0259 a0001c0002t0007g0260 a0001c0002t0007g0261 a0001c0002t0007g0262 a0001c0002t0007g0268 a0001c0002t0007g0271 a0001c0002t0011g0267 a0001c0002t0018g0075 a0001c0002t0018g0099 a0001c0002t0027g0263 a0001c0002t0029g0264 a0001c0002t0030g0247	25	218	0.1147	-30	c.-30 others(41): Show c.-3082_-3053delTGTGTGTATATATATATATATATATATATA		LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding					2257		chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18467940	CACACATA others(23): Show CACACATATATATATACGTATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0278 a0001c0001t0039g0278	1	413	0.0024	-30	c.418 others(47): Show c.418+2132_418+2161delCACATATATATATACGTATATATATACG TA		LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18468038	CATATATA others(23): Show CATATATATACGTATATATATATACATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0237 a0001c0001t0055g0237	1	383	0.0026	-30	c.418 others(47): Show c.418+2238_418+2267delCGTATATATATATACATATATATATATA TA		LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHA_chr11_18389563_18413425	18400429	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01978.hp2 others(2): Show HG01069.hp1 HG01069.hp2 HG01978.hp2 HG01993.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0011 a0001c0001t0001 a0001c0005t0011	a0001c0001t0001g0041 a0001c0001t0001g0127 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0005t0011g0142	5	16	0.3125	-30	c.245 others(45): Show c.245-384_245-355delACACACACACACACACACACACACACACAC		LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHC_chr11_18407318_18457063	18453598	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01070.hp2 others(19): Show HG00323.hp2 HG00733.hp1 HG01070.hp2 HG01167.hp1 HG01358.hp2 HG01433.hp2 HG01981.hp1 HG02074.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 NA18906.hp1 NA18946.hp1 NA18962.hp2 NA18968.hp1 NA18977.hp2 NA19070.hp1 NA19075.hp2 NA19079.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0235 a0001c0001t0002g0238 others(18): Show a0001c0001t0002g0009 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270	22	205	0.1073	-30	c.24 others(41): Show c.2472_*2501delTGTGTGTATATATATATATATATATATATA		LDHC	ENSG00000166796.12	transcript	ENST00000541669.6	protein_coding					1536		chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13217647	ACGGCGGC others(23): Show ACGGCGGCGGGAGGCGGGACACTCCCCCCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	176	0.0057	-30	c.-18 others(41): Show c.-1807_-1778delCGGCGGCGGGAGGCGGGACACTCCCCCCTC		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding					1112		chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13234427	CCTGTCCT others(23): Show CCTGTCCTGGCCCAGCATCGGGCTGCCAGGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00642.hp2 others(49): Show HG00099.hp1 HG00140.hp1 HG00642.hp2 HG01071.hp1 HG01071.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03942.hp1 NA18522.hp1 NA18945.hp2 NA18948.hp2 NA18977.hp2 NA18980.hp2 NA19057.hp2 NA20129.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0045 a0001c0001t0048 a0001c0001t0051 a0001c0001t0056 a0001c0001t0059 a0001c0001t0067 a0001c0001t0069 a0001c0002t0014 a0003c0004t0004	a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0089 others(49): Show a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0090 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0163 a0001c0001t0003g0034 a0001c0001t0003g0130 a0001c0001t0003g0147 a0001c0001t0003g0154 a0001c0001t0004g0057 a0001c0001t0004g0153 a0001c0001t0005g0128 a0001c0001t0005g0177 a0001c0001t0006g0103 a0001c0001t0006g0176 a0001c0001t0007g0073 a0001c0001t0007g0142 a0001c0001t0008g0108 a0001c0001t0010g0099 a0001c0001t0012g0079 a0001c0001t0013g0143 a0001c0001t0015g0086 a0001c0001t0017g0088 a0001c0001t0021g0150 a0001c0001t0023g0093 a0001c0001t0025g0106 a0001c0001t0027g0069 a0001c0001t0028g0144 a0001c0001t0032g0122 a0001c0001t0034g0102 a0001c0001t0037g0098 a0001c0001t0038g0012 a0001c0001t0045g0011 a0001c0001t0048g0041 a0001c0001t0051g0077 a0001c0001t0056g0059 a0001c0001t0059g0131 a0001c0001t0067g0173 a0001c0001t0069g0172 a0001c0002t0014g0123 a0003c0004t0004g0148	52	176	0.2955	-30	c.-46 others(51): Show c.-467+15444_-467+15473delCCTGGCCCAGCATCGGGCTGCCAG GACTGT		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr18	TogoVar

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