Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITIH2_chr10_7698316_7754520	7737819	AATATTCT others(95): Show AATATTCTATATTATATTCTATATATTATATATTATATTCTATATATTAT ATATTATATTCTATATATTATATATTATATTCTATATATTATATATTATA TTC	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	363	0.0028	-102	c.195 others(17): Show c.1958-801_1958-700del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737843	ATTATATA others(95): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTATATATTATATATTATATTC TAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03710.hp1 NA19082.hp2 HG02572.hp2 HG03710.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0026 a0003c0004t0001g0351 a0003c0004t0001g0361 a0001c0001t0001g0026 a0003c0004t0001g0351 a0003c0004t0001g0361	3	362	0.0083	-102	c.195 others(17): Show c.1958-777_1958-676del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737864	ATTATATA others(95): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTATATATTATATATTATATTC TAT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18947.hp1 NA18953.hp2 others(3): Show NA18942.hp1 NA18947.hp1 NA18953.hp2 NA18957.hp1 NA19012.hp1 NA19081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0181 a0002c0003t0001g0206 others(3): Show a0002c0003t0001g0009 a0002c0003t0001g0181 a0002c0003t0001g0206 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0230	6	363	0.0165	-102	c.195 others(17): Show c.1958-756_1958-655del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737948	ATTATATA others(95): Show ATTATATATTATATTCTATATATTATATATTATATTCTATATATTATATA TTATATTCTATATATTATATATTATATTCTATATATTATATATTATATTC TAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	377	0.0027	-102	c.195 others(17): Show c.1958-672_1958-571del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738072	ATATTATA others(95): Show ATATTATATATTATATTCTATATATTATATATTATATTCTATATATTATA TATTATATTCTATATATTATATATTATATTCTATATATTATATATTATAT TCT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03225.hp2 NA19087.hp2 others(1): Show HG02129.hp1 HG03225.hp2 NA19087.hp2 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0001 a0007c0010t0001 a0001c0002t0001 a0007c0010t0001	a0001c0002t0001g0270 a0001c0002t0001g0307 a0001c0002t0001g0315 others(1): Show a0001c0002t0001g0270 a0001c0002t0001g0307 a0001c0002t0001g0315 a0007c0010t0001g0311	4	378	0.0106	-102	c.195 others(17): Show c.1958-548_1958-447del	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20			chr10	TogoVar
KANK1_chr9_499695_751103	545051	AATGGCGG others(95): Show AATGGCGGCTGAGGAGGAGAATCTCTGTGAGTTGATTGAATGGGGAGAGG CAAACATCAAGCCCAGTGCCCAGACTTCTGGGAGGATCTGGCTGCTACTC AGT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02056.hp1 HG02071.hp1 others(13): Show HG00597.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02165.hp1 HG02523.hp1 NA18953.hp2 NA18964.hp2 NA18984.hp1 NA18994.hp1 NA18998.hp2 NA19005.hp2 NA19009.hp2 NA19058.hp1 NA19063.hp2	a0001 a0003 a0020 a0001 a0003 a0020	a0001c0058 a0003c0003 a0003c0015 others(2): Show a0001c0058 a0003c0003 a0003c0015 a0003c0051 a0020c0027	a0001c0058t0004 a0003c0003t0001 a0003c0003t0011 others(4): Show a0001c0058t0004 a0003c0003t0001 a0003c0003t0011 a0003c0015t0001 a0003c0051t0004 a0020c0027t0004 a0020c0027t0010	a0001c0058t0004g0134 a0003c0003t0001g0038 a0003c0003t0001g0049 others(13): Show a0001c0058t0004g0134 a0003c0003t0001g0038 a0003c0003t0001g0049 a0003c0003t0001g0059 a0003c0003t0001g0098 a0003c0003t0001g0172 a0003c0003t0001g0177 a0003c0003t0001g0183 a0003c0003t0001g0202 a0003c0003t0011g0017 a0003c0015t0001g0157 a0003c0015t0001g0209 a0003c0015t0001g0210 a0003c0051t0004g0207 a0020c0027t0004g0030 a0020c0027t0010g0014	16	252	0.0635	-102	c.-84 others(19): Show c.-84+40305_-84+40406del	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNIP4_chr4_20723606_21953772	21714787	TTATTTTA others(95): Show TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0023 a0001c0001t0015g0023	1	16	0.0625	-102	c.61+ others(19): Show c.61+233682_61+233783del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21757171	GAAGGAAG others(95): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAA AGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01123.hp2 others(2): Show HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01517.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006	a0001c0001t0002g0076 a0001c0001t0006g0078 a0001c0002t0001g0006 others(2): Show a0001c0001t0002g0076 a0001c0001t0006g0078 a0001c0002t0001g0006 a0001c0002t0004g0028 a0001c0002t0006g0050	5	71	0.0704	-102	c.61+ others(19): Show c.61+191298_61+191399del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNQ2_chr20_63395208_63477655	63455800	ACCCCCCA others(95): Show ACCCCCCACCTCCGGGAGGCCCCTCTGCTCACGGGCCCCCCACCTCCGGG AGACCCCTCTGCTCACGGGCCCCCCACCTCCGGGAGACCCCTGTGCTCAC GGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 NA19043.hp2 others(1): Show HG02280.hp2 HG02622.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0023 a0001c0002t0066 a0002c0001t0024 a0001c0002t0023 a0001c0002t0066 a0002c0001t0024	a0001c0002t0023g0102 a0001c0002t0066g0220 a0002c0001t0024g0103 others(1): Show a0001c0002t0023g0102 a0001c0002t0066g0220 a0002c0001t0024g0103 a0002c0001t0024g0104	4	326	0.0123	-102	c.297 others(17): Show c.297-9065_297-8964del	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNV2_chr9_2712510_2735037	2722250	TTTATTTA others(95): Show TTTATTTACAAATTAGAAGTTATTTATTTACAAATTAGAAGTTATTTATA AATTAGAAGTTATTTATAAATAAATTAGAAGTTATTTATAAATAAATTAG AAG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0004 a0011c0023t0004	a0011c0023t0004g0113 a0011c0023t0004g0113	1	440	0.0023	-102	c.135 others(19): Show c.1356+3163_1356+3264del	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF26B_chr1_245149985_245714432	245614857	TTCGGATA others(95): Show TTCGGATAGGGATGAGGAGATGCAGACCTTTAAAATCGGATAGGGATGAG GAGATGCAGACCTTTAAAATCGGATAGGGATGAGGAGATGCAGACCTTTA AAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00609.hp1 others(63): Show HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02258.hp1 HG02559.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18952.hp1 NA18952.hp2 NA18971.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0009 a0018 a0020	a0001c0001 a0001c0002 a0001c0004 others(23): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0020 a0001c0022 a0001c0040 a0001c0048 a0001c0050 a0001c0054 a0002c0006 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0002c0029 a0002c0031 a0003c0003 a0003c0008 a0004c0011 a0004c0019 a0005c0017 a0009c0039 a0018c0062 a0020c0045	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(46): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0025 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0001t0063 a0001c0001t0064 a0001c0001t0071 a0001c0001t0087 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0019 a0001c0002t0043 a0001c0002t0053 a0001c0002t0059 a0001c0002t0075 a0001c0002t0085 a0001c0004t0007 a0001c0004t0040 a0001c0005t0073 a0001c0010t0015 a0001c0010t0026 a0001c0020t0013 a0001c0022t0055 a0001c0040t0002 a0001c0048t0017 a0001c0050t0018 a0001c0054t0014 a0002c0006t0002 a0002c0006t0021 a0002c0006t0068 a0002c0025t0056 a0002c0026t0003 a0002c0027t0033 a0002c0028t0003 a0002c0029t0015 a0002c0031t0076 a0003c0003t0004 a0003c0003t0022 a0003c0008t0004 a0004c0011t0020 a0004c0019t0058 a0005c0017t0002 a0009c0039t0042 a0018c0062t0086 a0020c0045t0001	a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0049 others(63): Show a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0008g0054 a0001c0001t0009g0121 a0001c0001t0025g0073 a0001c0001t0036g0140 a0001c0001t0038g0107 a0001c0001t0041g0022 a0001c0001t0063g0008 a0001c0001t0064g0042 a0001c0001t0071g0047 a0001c0001t0087g0088 a0001c0002t0003g0012 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0032 a0001c0002t0003g0064 a0001c0002t0005g0040 a0001c0002t0005g0133 a0001c0002t0005g0141 a0001c0002t0010g0034 a0001c0002t0010g0035 a0001c0002t0019g0061 a0001c0002t0019g0147 a0001c0002t0043g0109 a0001c0002t0053g0122 a0001c0002t0059g0158 a0001c0002t0075g0083 a0001c0002t0085g0001 a0001c0004t0007g0050 a0001c0004t0040g0113 a0001c0005t0073g0039 a0001c0010t0015g0070 a0001c0010t0026g0060 a0001c0020t0013g0086 a0001c0022t0055g0139 a0001c0040t0002g0026 a0001c0048t0017g0115 a0001c0050t0018g0132 a0001c0054t0014g0074 a0002c0006t0002g0041 a0002c0006t0002g0044 a0002c0006t0021g0025 a0002c0006t0021g0066 a0002c0006t0068g0007 a0002c0025t0056g0057 a0002c0026t0003g0058 a0002c0027t0033g0123 a0002c0028t0003g0011 a0002c0029t0015g0071 a0002c0031t0076g0030 a0003c0003t0004g0112 a0003c0003t0004g0145 a0003c0003t0022g0155 a0003c0008t0004g0087 a0003c0008t0004g0105 a0004c0011t0020g0152 a0004c0019t0058g0111 a0005c0017t0002g0045 a0009c0039t0042g0096 a0018c0062t0086g0144 a0020c0045t0001g0078	66	71	0.9296	-102	c.209 others(19): Show c.2098+2953_2098+3054del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF4A_chrX_70285104_70425886	70373605	TATATACG others(95): Show TATATACGTGTATATATATACGTATATATATACATATATACGTGTATATA TATACGTATATATATACATATATACGTGTATATATATACGTATATATATA CAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0080 a0004c0012t0001g0080	1	257	0.0039	-102	c.167 others(17): Show c.1675-492_1675-391del	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KLHDC4_chr16_87702812_87770986	87733556	GCCACTCC others(95): Show GCCACTCCCTGGGATCCTCACTGATGACCTGCCTCGCCTCCTACTTAGGA ATCCACTCCCTGGGATCCTCACTGATGACCTGCCTCGCCTCCTACTTAGG AAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0377 a0008c0017t0001g0377	1	247	0.0040	-102	c.507 others(17): Show c.507-3014_507-2913del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87733642	GCCTCCTA others(95): Show GCCTCCTACTTAGGAATCCACTCCCTGGGATCCTCACTGATGACCTGCCT CGCCTCCTACTTAGGAATCCACTCCCTGGGATCCTCACTGATGACCTGCC TCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG01261.hp1 others(38): Show HG00408.hp1 HG01081.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01952.hp1 HG02129.hp1 HG02135.hp2 HG02698.hp1 HG03017.hp1 HG03491.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18989.hp2 NA19002.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19079.hp1 NA19084.hp2 NA19091.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0021 a0001c0001 a0002c0002 a0002c0021	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0021t0001	a0001c0001t0001g0112 a0001c0001t0001g0366 a0002c0002t0001g0086 others(38): Show a0001c0001t0001g0112 a0001c0001t0001g0366 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0101 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0367 a0002c0002t0002g0207 a0002c0021t0001g0329	41	378	0.1085	-102	c.507 others(17): Show c.507-3100_507-2999del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KRTAP10-4_chr21_44568729_44580371	44576396	CGTCCCAG others(95): Show CGTCCCAGGGTGGGTGAGGGGGCAAACCTCATGGGTGAACAGACACACGG ACGTCCCAGGGTGGGTGAGGGGGCAAACCTCATGGGTGAACAGACACATG GAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02615.hp1 others(7): Show HG01081.hp1 HG02109.hp1 HG02615.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03209.hp1 HG03540.hp1 NA21309.hp2	a0007 a0018 a0031 a0007 a0018 a0031	a0007c0007 a0018c0020 a0031c0033 a0007c0007 a0018c0020 a0031c0033	a0007c0007t0001 a0018c0020t0001 a0031c0033t0001 a0007c0007t0001 a0018c0020t0001 a0031c0033t0001	a0007c0007t0001g0000 a0018c0020t0001g0000 a0031c0033t0001g0000 a0007c0007t0001g0000 a0018c0020t0001g0000 a0031c0033t0001g0000	10	474	0.0211	-102	c.14 others(11): Show c.1433_*1534del	KRTAP10-4	ENSG00000215454.7	transcript	ENST00000400374.4	protein_coding		1026		chr21	TogoVar
KRTAP10-5_chr21_44574455_44585604	44576396	CGTCCCAG others(95): Show CGTCCCAGGGTGGGTGAGGGGGCAAACCTCATGGGTGAACAGACACACGG ACGTCCCAGGGTGGGTGAGGGGGCAAACCTCATGGGTGAACAGACACATG GAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02615.hp1 others(7): Show HG01081.hp1 HG02109.hp1 HG02615.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0001g0000 a0001c0001t0003g0000	10	466	0.0215	-102	c.32 others(11): Show c.3265_*3366del	KRTAP10-5	ENSG00000241123.1	transcript	ENST00000400372.1	protein_coding		3058		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743519	TATATATA others(95): Show TATATATACGAATATATATACGTATATATATACGTATATATACACGAATA TATATACGTATATATACGAATATATACGTATATATATACGAATATATACG AAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	378	0.0026	-102	c.33 others(11): Show c.3330_*3431del	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		3274		chr21	TogoVar
LAMA5_chr20_62304065_62372312	62360411	AGGTGGGT others(95): Show AGGTGGGTGGGTGGAGGGATGGGTGAGTGGGTGGGTGGAGGGATAGATGG GTGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAG ATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG01243.hp1 HG02257.hp1	a0041 a0061 a0041 a0061	a0041c0050 a0061c0049 a0041c0050 a0061c0049	a0041c0050t0001 a0061c0049t0001 a0041c0050t0001 a0061c0049t0001	a0041c0050t0001g0058 a0061c0049t0001g0059 a0041c0050t0001g0058 a0061c0049t0001g0059	2	166	0.0120	-102	c.450 others(17): Show c.450+1887_450+1988del	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LDHAL6A_chr11_18450856_18484601	18467924	CACATATA others(95): Show CACATATATATATACACACACATATATATATACGTATATATATACGTATA TATATACGTATATATATGCATATATATACGTATATATATACATATATATA CGT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	405	0.0025	-102	c.418 others(17): Show c.418+2116_418+2217del	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(95): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03139.hp1 HG03017.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0121 a0001c0001t0003 a0001c0003t0121	a0001c0001t0003g0037 a0001c0003t0121g0178 a0001c0001t0003g0037 a0001c0003t0121g0178	2	87	0.0230	-102	c.794 others(17): Show c.794-2278_794-2177del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	953476	CCCACCCC others(95): Show CCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGC CTCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACA CAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0013 a0013	a0013c0050 a0013c0050	a0013c0050t0001 a0013c0050t0001	a0013c0050t0001g0050 a0013c0050t0001g0050	1	292	0.0034	-102	c.503 others(15): Show c.503+779_503+880del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953477	CCACCCCA others(95): Show CCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACAC AGA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02257.hp1 HG00609.hp2 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0023 a0002c0007 a0001c0023 a0002c0007	a0001c0023t0001 a0002c0007t0001 a0001c0023t0001 a0002c0007t0001	a0001c0023t0001g0246 a0002c0007t0001g0206 a0001c0023t0001g0246 a0002c0007t0001g0206	2	273	0.0073	-102	c.503 others(15): Show c.503+778_503+879del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953549	CCCAAACC others(95): Show CCCAAACCAGCCTCCTACATATCCACACAGACACCCCAAACCAGCCTCCT ACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACAC AGA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19004.hp2 HG00597.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0256 a0001c0001t0001g0159 a0001c0001t0001g0256	2	282	0.0071	-102	c.503 others(15): Show c.503+706_503+807del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMOD1_chr1_201891456_201951548	201901588	ATATATAT others(95): Show ATATATATGTATATATATATATACACATATATATGTGTGTGTGTATATAT ATATATATATACATATATATGTGTATATATATATATACACATATATATAT GTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0242 a0005c0004t0001g0242	1	395	0.0025	-102	c.262 others(15): Show c.262-939_262-838del	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2			chr1	TogoVar
LRCOL1_chr12_132598151_132615582	132602100	CGATTCTG others(95): Show CGATTCTGTGTGTGACGCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGAC GCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGACGCCGCCTGTGTGAGCC TCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01070.hp2 HG01071.hp1 others(8): Show HG00544.hp2 HG01070.hp2 HG01071.hp1 HG02615.hp2 HG02723.hp2 HG02970.hp1 HG03492.hp2 NA18967.hp1 NA18977.hp1 NA18986.hp2 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0006 a0003c0003 a0003c0006	a0003c0003t0001 a0003c0003t0003 a0003c0006t0003 a0003c0003t0001 a0003c0003t0003 a0003c0006t0003	a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0062 others(3): Show a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0003g0066 a0003c0006t0003g0035	11	388	0.0284	-102	c.12 others(11): Show c.1200_*1301del	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		1050		chr12	TogoVar
LRP12_chr8_104484236_104594258	104547190	TATATCAT others(95): Show TATATCATATTTTGTATATAATATACAATTCTGTTATATTTTGTATATAA TATACAATTCTGTTATATCATATTTTGTACATAATATACAATTCTGTTAT ATC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp1 HG02809.hp2 others(1): Show HG01109.hp1 HG02280.hp1 HG02809.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208	4	316	0.0127	-102	c.80- others(17): Show c.80-15329_80-15228del	LRP12	ENSG00000147650.12	transcript	ENST00000276654.10	protein_coding	1/6			chr8	TogoVar
MAEA_chr4_1284891_1345137	1334072	GTGTGCTC others(95): Show GTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGC CCACCCCATGCCCACCATGTGCTCACCCCTGCATCCACCCCCATGCCCAC CCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	358	0.0028	-102	c.765 others(17): Show c.765+1216_765+1317del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAPK9_chr5_180228143_180297083	180296820	TTACCCCC others(95): Show TTACCCCCCCCCCCACACACACACGGAAGTACTTACCACACACACACACA CACACACACACAAGGAAGTACAACACACACGTAAGGAAGTACACACACGG AAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp2 others(43): Show HG00140.hp1 HG00280.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01192.hp1 HG01433.hp2 HG01993.hp2 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG03710.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18946.hp1 NA18961.hp1 NA18965.hp1 NA18978.hp1 NA18980.hp2 NA18991.hp2 NA19005.hp2 NA19011.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0025 a0001c0001t0035 a0001c0001t0038	a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0140 others(43): Show a0001c0001t0001g0125 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0003g0109 a0001c0001t0004g0286 a0001c0001t0004g0323 a0001c0001t0005g0287 a0001c0001t0011g0197 a0001c0001t0011g0198 a0001c0001t0011g0199 a0001c0001t0013g0265 a0001c0001t0025g0213 a0001c0001t0035g0145 a0001c0001t0038g0136	46	370	0.1243	-102	c.-51 others(11): Show c.-5122_-5021del	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4738		chr5	TogoVar
MAPK9_chr5_180228143_180297083	180296830	CCCCACAC others(95): Show CCCCACACACACACGGAAGTACTTACCACACACACACACACACACACACA CAAGGAAGTACAACACACACGTAAGGAAGTACACACACGGAAGTACCCCC CCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA18966.hp1 NA19000.hp1 others(2): Show HG02622.hp1 NA18966.hp1 NA19000.hp1 NA19002.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0001 a0001c0001t0044	a0001c0001t0001g0144 a0001c0001t0001g0171 a0001c0001t0001g0180 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0044g0340	5	365	0.0137	-102	c.-51 others(11): Show c.-5132_-5031del	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4748		chr5	TogoVar
MCM10_chr10_13156558_13216110	13216008	GTACTAAC others(95): Show GTACTAACACTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp2 others(213): Show HG00099.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0002c0003 a0004c0005 a0005c0006 a0006c0010 a0007c0015 a0008c0016 a0009c0011 a0016c0023 a0017c0021 a0018c0027 a0019c0024 a0020c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0024 a0001c0004t0001 a0001c0004t0004 a0001c0004t0014 a0001c0008t0007 a0001c0012t0001 a0002c0003t0002 a0002c0003t0003 a0004c0005t0004 a0005c0006t0007 a0006c0010t0002 a0007c0015t0001 a0007c0015t0002 a0008c0016t0002 a0009c0011t0002 a0016c0023t0001 a0017c0021t0001 a0018c0027t0022 a0019c0024t0004 a0020c0018t0004	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(191): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0001g0315 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0348 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0370 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0104 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0139 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0247 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0264 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0297 a0001c0001t0002g0303 a0001c0001t0002g0320 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0391 a0001c0001t0003g0149 a0001c0001t0004g0257 a0001c0001t0004g0265 a0001c0001t0004g0338 a0001c0001t0007g0342 a0001c0001t0008g0092 a0001c0001t0010g0384 a0001c0001t0013g0059 a0001c0001t0013g0340 a0001c0001t0015g0012 a0001c0001t0020g0192 a0001c0001t0025g0004 a0001c0001t0026g0054 a0001c0001t0027g0156 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0028 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0097 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0125 a0001c0002t0001g0175 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0216 a0001c0002t0001g0221 a0001c0002t0001g0232 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0248 a0001c0002t0001g0273 a0001c0002t0001g0283 a0001c0002t0001g0299 a0001c0002t0001g0324 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0358 a0001c0002t0001g0366 a0001c0002t0001g0368 a0001c0002t0001g0381 a0001c0002t0001g0386 a0001c0002t0004g0129 a0001c0002t0004g0144 a0001c0002t0004g0211 a0001c0002t0004g0243 a0001c0002t0004g0312 a0001c0002t0008g0020 a0001c0002t0008g0241 a0001c0002t0008g0325 a0001c0002t0008g0339 a0001c0002t0010g0388 a0001c0002t0024g0001 a0001c0004t0001g0070 a0001c0004t0004g0039 a0001c0004t0004g0151 a0001c0004t0004g0152 a0001c0004t0004g0222 a0001c0004t0004g0260 a0001c0004t0004g0372 a0001c0004t0014g0157 a0001c0008t0007g0033 a0001c0008t0007g0067 a0001c0008t0007g0068 a0001c0008t0007g0262 a0001c0012t0001g0150 a0001c0012t0001g0269 a0002c0003t0002g0126 a0002c0003t0003g0245 a0002c0003t0003g0275 a0004c0005t0004g0132 a0004c0005t0004g0133 a0004c0005t0004g0202 a0004c0005t0004g0203 a0004c0005t0004g0204 a0004c0005t0004g0345 a0005c0006t0007g0040 a0005c0006t0007g0155 a0005c0006t0007g0270 a0006c0010t0002g0023 a0006c0010t0002g0177 a0006c0010t0002g0319 a0007c0015t0001g0300 a0007c0015t0002g0214 a0008c0016t0002g0195 a0009c0011t0002g0006 a0016c0023t0001g0065 a0017c0021t0001g0036 a0018c0027t0022g0393 a0019c0024t0004g0256 a0020c0018t0004g0086	216	430	0.5023	-102	c.66 others(11): Show c.6699_*6800del	MCM10	ENSG00000065328.17	transcript	ENST00000378714.8	protein_coding		4899		chr10	TogoVar
MED16_chr19_862963_898187	866752	CGCGGGCC others(95): Show CGCGGGCCTGCACCCCTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCG CCGCGGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCC ACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA18995.hp1 HG01256.hp2 HG01258.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0040 a0001c0001t0001g0042 a0002c0007t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0042 a0002c0007t0001g0010	3	52	0.0577	-102	c.12 others(11): Show c.1247_*1348del	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1210		chr19	TogoVar
MED16_chr19_862963_898187	866848	GCCCACTG others(95): Show GCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG02809.hp1 HG02818.hp1	a0002 a0008 a0002 a0008	a0002c0007 a0008c0018 a0002c0007 a0008c0018	a0002c0007t0001 a0008c0018t0006 a0002c0007t0001 a0008c0018t0006	a0002c0007t0001g0014 a0008c0018t0006g0013 a0002c0007t0001g0014 a0008c0018t0006g0013	2	28	0.0714	-102	c.11 others(11): Show c.1151_*1252del	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1114		chr19	TogoVar
MEGF11_chr15_65890299_66258750	66039746	TCTGAGCC others(95): Show TCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGG CGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACG GTC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0175 a0001c0001t0008g0175	1	13	0.0769	-102	c.394 others(19): Show c.394+54554_394+54655del	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MICU1_chr10_72362340_72631079	72448374	ATGTTGGC others(95): Show ATGTTGGCCAGGCTGTTCTGGAACTCCTGACCTCAAGTCATCCGCCCACC TTGGCCTCCCAAAGTGCTGCAATTACAGGTGTGAGCCACCGCACCTGGCC AAG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18977.hp1 HG01978.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0133 a0001c0001t0001g0139	2	206	0.0097	-102	c.934 others(19): Show c.934-25105_934-25004del	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	8/11			chr10	TogoVar
MLC1_chr22_50054391_50090426	50060697	AGCAGCGG others(95): Show AGCAGCGGCCACGTGGCACTCCAAGCTGGGCATGACAGTGCCCGGGACGT GGGCAGCGGCCATGTGGCACTCCAAGCTGGGCATGACAGTGCCCGGGACG TGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG01358.hp1 HG02004.hp1 others(2): Show HG00673.hp1 HG01358.hp1 HG02004.hp1 HG03688.hp1 HG03831.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0008 a0005c0008t0008 a0002c0002t0008 a0005c0008t0008	a0002c0002t0008g0165 a0002c0002t0008g0166 a0002c0002t0008g0167 others(2): Show a0002c0002t0008g0165 a0002c0002t0008g0166 a0002c0002t0008g0167 a0002c0002t0008g0168 a0005c0008t0008g0119	5	210	0.0238	-102	c.78 others(9): Show c.784_*885del	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	12/12	784		chr22	TogoVar
MLPH_chr2_237482251_237560322	237543042	GGGGGGAC others(95): Show GGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGTACAGTGGTGAGTGGGCACAGTAGTGA GTA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19005.hp2 NA19079.hp1 NA18947.hp2 NA19005.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0275	3	236	0.0127	-102	c.153 others(17): Show c.1539+399_1539+500del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOB2_chr11_1464457_1491779	1486837	GTCCATCA others(95): Show GTCCATCAGAAAGGTCCTGGGCTCCACCTCAGGCTGCCAGAAGAGGCGGT GGGGGTGGGACCAGAAGGGAGGGGACAGGGCCGTCCTTGGCCTGCAAGAA GGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG02647.hp2 others(2): Show HG00639.hp2 HG00642.hp1 HG02647.hp2 HG02895.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0094	5	424	0.0118	-102	c.-38 others(9): Show c.-383_-282del	MOB2	ENSG00000182208.15	transcript	ENST00000329957.7	protein_coding		59		chr11	TogoVar
MROH2A_chr2_233773330_233838418	233787726	CATATATA others(95): Show CATATATACATATATATTATATATATTATATATATCATATATACATATAT ATTATATATATCATATATAATATATATTATATATATTATATATAATATAT ATT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01975.hp2 HG01993.hp2 others(16): Show HG00639.hp1 HG01975.hp2 HG01993.hp2 HG02083.hp1 HG03927.hp1 NA18612.hp2 NA18943.hp1 NA18948.hp1 NA18973.hp1 NA18992.hp2 NA19000.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0009 a0057 a0119	a0001c0001 a0002c0015 a0002c0016 others(10): Show a0001c0001 a0002c0015 a0002c0016 a0003c0002 a0003c0008 a0004c0007 a0004c0010 a0005c0006 a0005c0012 a0005c0024 a0009c0005 a0057c0115 a0119c0073	a0001c0001t0001 a0002c0015t0001 a0002c0016t0001 others(10): Show a0001c0001t0001 a0002c0015t0001 a0002c0016t0001 a0003c0002t0001 a0003c0008t0001 a0004c0007t0001 a0004c0010t0001 a0005c0006t0001 a0005c0012t0001 a0005c0024t0001 a0009c0005t0001 a0057c0115t0001 a0119c0073t0001	a0001c0001t0001g0326 a0002c0015t0001g0322 a0002c0015t0001g0323 others(15): Show a0001c0001t0001g0326 a0002c0015t0001g0322 a0002c0015t0001g0323 a0002c0015t0001g0328 a0002c0016t0001g0333 a0003c0002t0001g0327 a0003c0008t0001g0009 a0004c0007t0001g0335 a0004c0010t0001g0299 a0004c0010t0001g0332 a0005c0006t0001g0320 a0005c0006t0001g0324 a0005c0012t0001g0321 a0005c0012t0001g0325 a0005c0024t0001g0330 a0009c0005t0001g0319 a0057c0115t0001g0329 a0119c0073t0001g0331	19	328	0.0579	-102	c.277 others(17): Show c.277-1746_277-1645del	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYDGF_chr19_4652545_4675342	4672228	TATATTCA others(95): Show TATATTCATATATATGAATATATATTCATATATATGAATATATATATTAA TATATTCATATATATATACTTATATTCATATATTCATATATATACTTATA TTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0136 a0001c0006t0001g0136	1	406	0.0025	-102	c.-19 others(11): Show c.-1996_-1895del	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1887		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672247	ATATATTC others(95): Show ATATATTCATATATATGAATATATATATTAATATATTCATATATATATAC TTATATTCATATATTCATATATATACTTATATTCATATATTCATATATAT ACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0099 a0002c0002t0002g0099	1	399	0.0025	-102	c.-20 others(11): Show c.-2015_-1914del	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1906		chr19	TogoVar
MYO6_chr6_75744239_75924537	75761726	GACTTTAG others(95): Show GACTTTAGTCCTGTTTTCTAGGATTCTGCTATTTGGTATATAACACTGAT ATAGGTTAGTATTTTCAGAACATGTGGACAACAGAGTAGGTCAGCATGAT TGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp2 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0050 a0001c0008t0050	a0001c0008t0050g0156 a0001c0008t0050g0215 a0001c0008t0050g0156 a0001c0008t0050g0215	2	356	0.0056	-102	c.-48 others(19): Show c.-48+12306_-48+12407del	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYOM2_chr8_2040046_2150456	2085490	CCCTCACT others(95): Show CCCTCACTGTTGTGATCTCCGCGTGGCCCCCCACTGTTGTGATCTCTGCG TGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCG TGG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0122 a0002c0122	a0002c0122t0001 a0002c0122t0001	a0002c0122t0001g0194 a0002c0122t0001g0194	1	402	0.0025	-102	c.164 others(17): Show c.1644+103_1644+204del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085538	CGTGGCCC others(95): Show CGTGGCCCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTG CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03239.hp1 NA18945.hp2 HG01891.hp2 HG03239.hp1 NA18945.hp2	a0008 a0011 a0051 a0008 a0011 a0051	a0008c0008 a0011c0011 a0051c0141 a0008c0008 a0011c0011 a0051c0141	a0008c0008t0001 a0011c0011t0001 a0051c0141t0001 a0008c0008t0001 a0011c0011t0001 a0051c0141t0001	a0008c0008t0001g0271 a0011c0011t0001g0042 a0051c0141t0001g0062 a0008c0008t0001g0271 a0011c0011t0001g0042 a0051c0141t0001g0062	3	371	0.0081	-102	c.164 others(17): Show c.1644+157_1644+258del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085569	CCCACTGT others(95): Show CCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGC CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCG TGG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0073 a0001c0022t0001g0073	1	395	0.0025	-102	c.164 others(17): Show c.1644+182_1644+283del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYZAP_chr15_57586904_57690364	57676582	GGCCGTTT others(95): Show GGCCGTTTCCCCCCTTTTTGTATTTTTCAAAAGCCAAGTGGCCTAGTCCA CTCTAATTGCCCACATAATAAATCTTGTTTGGCTAAGACGGGTACAAAAC TAT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0150 a0001c0003t0003g0150	1	350	0.0029	-102	c.130 others(19): Show c.1304+1516_1304+1617del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
NAALADL2_chr3_174854334_175815548	175698371	ATGTGTAT others(95): Show ATGTGTATTTATGTATGTATACATATGTATGTGTATTTATGTATGTATAC ATATGTATGTGTATATATTTATGTATGTATACATATATGTGTATATATGT GTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	63	0.0159	-102	c.189 others(21): Show c.1897-38933_1897-38832del	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPD3_chr11_134145113_134228967	134166932	AGGGGAGC others(95): Show AGGGGAGCTGCACACTCACTAGTGAGATGAGCTTAGGGGAGCTGCACACT CACTAGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGC TTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01496.hp2 others(3): Show HG01192.hp1 HG01243.hp2 HG01496.hp2 HG02895.hp1 HG02897.hp2 HG03516.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0023 a0001c0001 a0013c0023	a0001c0001t0018 a0001c0001t0027 a0013c0023t0018 a0001c0001t0018 a0001c0001t0027 a0013c0023t0018	a0001c0001t0018g0357 a0001c0001t0018g0358 a0001c0001t0018g0363 others(3): Show a0001c0001t0018g0357 a0001c0001t0018g0358 a0001c0001t0018g0363 a0001c0001t0027g0356 a0001c0001t0027g0359 a0013c0023t0018g0360	6	368	0.0163	-102	c.357 others(18): Show c.3573+962_3573+1063del	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	27/34			chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667304	CCCTTAGC others(95): Show CCCTTAGCCGCTACTGTGTCCCTCCGCTACTGTGTCCCTCCGCTCCTTAG CCACTACCGGATCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCCGC CCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00639.hp1 others(16): Show HG00423.hp2 HG00621.hp2 HG00639.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02896.hp1 NA18612.hp2 NA18941.hp2 NA18944.hp1 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18965.hp2 NA19004.hp1 NA19058.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0002g0024 a0001c0001t0002g0104 a0001c0001t0002g0122 others(15): Show a0001c0001t0002g0024 a0001c0001t0002g0104 a0001c0001t0002g0122 a0001c0001t0002g0165 a0001c0001t0004g0023 a0001c0001t0004g0025 a0002c0002t0001g0003 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159	19	373	0.0509	-102	c.148 others(19): Show c.1480-2656_1480-2555del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241810707	AGGGACTG others(95): Show AGGGACTGGCAGGAGTCCTGCGGGGACAGGCTGGGGGCAGGCCAGCGTGA AAGGGACTGGCAGGAGTCCTGCGGGGACAGGCTGGGGGCAGGCCAGCGTG AAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(79): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00741.hp2 HG01081.hp2 HG01192.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG03492.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18995.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0010	a0001c0001 a0002c0003 a0005c0009 others(2): Show a0001c0001 a0002c0003 a0005c0009 a0007c0012 a0010c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0002c0003t0002 a0005c0009t0001 a0007c0012t0001 a0010c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0005g0017 a0001c0001t0009g0001 a0002c0003t0002g0154 a0005c0009t0001g0003 a0005c0009t0001g0162 a0007c0012t0001g0133 a0010c0010t0001g0001	82	318	0.2579	-102	c.-4+ others(15): Show c.-4+1484_-4+1585del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NFATC1_chr18_79390930_79534323	79521700	GGGGAGCA others(95): Show GGGGAGCATCCACTGATGTGTGTGTCTGTGTGTGTGTGGGGTGCATCCAC AGATGTGTGTGTCTGTGTGTGTGTGGGGAGCATCCACTGATGTGTATGTG TGT	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0053 a0001c0018t0053	a0001c0018t0053g0059 a0001c0018t0053g0059	1	319	0.0031	-102	c.278 others(19): Show c.2783-5824_2783-5723del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

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