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	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
SCGB1C1_chr11_188078_199575	196445	ACATGGGG others(123): Show ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGAGGACATGGGTGG GGAGCCTTGGTGAGGGGACCTGGTGAGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA19062.hp2 NA18987.hp1 NA19062.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0003 a0001c0005t0001g0004 a0001c0003t0001g0003 a0001c0005t0001g0004	2	354	0.0057	-130	c.19 others(11): Show c.1996_*2125del		SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding					1871		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288676	CTCCGTCC others(123): Show CTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	290	0.0035	-130	c.166 others(17): Show c.1662+648_1662+777del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289422	TCTGCTCC others(123): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCT CCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	290	0.0035	-130	c.166 others(17): Show c.1663-836_1663-707del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	CTAAAGAC others(123): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAAC AGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCCGTAGGATAA AGACATATTACAAAACAGAGTGCCTGTAGGA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp1 HG01168.hp2 others(15): Show HG00673.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG02027.hp2 HG02071.hp2 NA18612.hp1 NA18747.hp1 NA18945.hp2 NA18954.hp1 NA18964.hp2 NA18970.hp1 NA19005.hp2 NA19055.hp2 NA19065.hp2 NA19075.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0283 others(15): Show a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0283 a0001c0001t0001g0302 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0078 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0002t0001g0251 a0001c0002t0001g0274 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0322 a0002c0003t0001g0165 a0002c0003t0001g0166	18	376	0.0479	-130	c.331 others(17): Show c.331-2780_331-2651del		SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8						chr3	TogoVar
SH3GL1_chr19_4355370_4405547	4380997	ACAGAGGA others(123): Show ACAGAGGAAAAAACAACTCTGTTTCCCCACCGGCCTCCTCTCCCTCTCTC TGTTCCCCCAGCCTCTCTGTCCCCCTGCCTCTCTCTGTCCCCTCTCTCTG TCCCCTTTGCCTCTGTCCCCCTGCCTCTCTC	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	358	0.0028	-130	c.46- others(17): Show c.46-14133_46-14004del		SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding	1/9						chr19	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368556	ATATATAT others(123): Show ATATATATATAAAATATGTTATATATATATATAAAATATGTTATATATAT AATATATATGTTATATATATATATAATATATATGTTATATATATAAAATA TATATATTATATATATATAAAATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG02698.hp1 others(12): Show HG00609.hp2 HG00621.hp1 HG02698.hp1 HG03195.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 NA18747.hp1 NA18984.hp2 NA18998.hp2 NA20905.hp1 NA20905.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0016 a0001c0001 a0009c0016	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0058 a0001c0001t0062 a0009c0016t0001	a0001c0001t0001g0054 a0001c0001t0001g0125 a0001c0001t0001g0126 others(12): Show a0001c0001t0001g0054 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0006g0027 a0001c0001t0008g0122 a0001c0001t0008g0129 a0001c0001t0008g0130 a0001c0001t0008g0131 a0001c0001t0020g0128 a0001c0001t0058g0180 a0001c0001t0062g0166 a0009c0016t0001g0181	15	280	0.0536	-130	c.427 others(17): Show c.427+5104_427+5233del		SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12						chr5	TogoVar
SHC2_chr19_411589_466033	452335	GTTTCATT others(123): Show GTTTCATTGAGGTTGGGGCATCGTACTGACTTGGGGGGAATTCCTGCGTA GGTGTGCGTTTCTCCGTTTCATTGAGGTTGGGGCATCGTACTGACTTGGG GGGAATTCCTGCATAGGTGTGCGTTTCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02818.hp1 HG02976.hp2 others(2): Show HG02145.hp1 HG02818.hp1 HG02976.hp2 HG03098.hp1 NA19240.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0005 a0003c0008 others(1): Show a0001c0001 a0001c0005 a0003c0008 a0011c0022	a0001c0001t0004 a0001c0005t0015 a0003c0008t0003 others(2): Show a0001c0001t0004 a0001c0005t0015 a0003c0008t0003 a0003c0008t0006 a0011c0022t0002	a0001c0001t0004g0033 a0001c0005t0015g0008 a0003c0008t0003g0183 others(2): Show a0001c0001t0004g0033 a0001c0005t0015g0008 a0003c0008t0003g0183 a0003c0008t0006g0185 a0011c0022t0002g0184	5	212	0.0236	-130	c.468 others(17): Show c.468+8064_468+8193del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12						chr19	TogoVar
SKI_chr1_2223319_2315213	2280677	CGATCTTC others(123): Show CGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTT CAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCCGAGAAGACAGGCGGTGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01993.hp2 HG02145.hp2 others(7): Show HG01109.hp2 HG01993.hp2 HG02145.hp2 HG02280.hp2 HG02886.hp2 HG03540.hp2 HG03669.hp2 NA18612.hp1 NA18964.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0067 a0001c0001t0068 a0001c0001t0082	a0001c0001t0002g0105 a0001c0001t0003g0032 a0001c0001t0003g0280 others(7): Show a0001c0001t0002g0105 a0001c0001t0003g0032 a0001c0001t0003g0280 a0001c0001t0004g0325 a0001c0001t0005g0161 a0001c0001t0006g0142 a0001c0001t0009g0308 a0001c0001t0067g0097 a0001c0001t0068g0145 a0001c0001t0082g0156	10	330	0.0303	-130	c.970 others(19): Show c.970-22242_970-22113del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281123	GGATGCCC others(123): Show GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	330	0.0030	-130	c.970 others(19): Show c.970-21800_970-21671del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282078	CGAGAAGA others(123): Show CGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18964.hp2 HG01993.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0025 a0001c0001t0005 a0001c0001t0025	a0001c0001t0005g0161 a0001c0001t0025g0122 a0001c0001t0005g0161 a0001c0001t0025g0122	2	330	0.0061	-130	c.970 others(19): Show c.970-20863_970-20734del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A22_chr11_785475_803281	785676	TGGCCTTC others(123): Show TGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCTAGCTA TATTTTTATTGTACAGACAGAGGTCTCACTGTGTTGGCCAGGCTGGTCTC AAACTCCTGAGCTCAAGCCATCTATCACCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	410	0.0024	-130	c.61 others(11): Show c.6109_*6238del		SLC25A22	ENSG00000177542.11	transcript	ENST00000628067.3	protein_coding					4798		chr11	TogoVar
SNX9_chr6_157818246_157950077	157827385	TTATAGTT others(123): Show TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACTTATAGTTTATATAATAT ATAAACTTATAGTTTATATAATATATAAACA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0288	1	302	0.0033	-130	c.12+ others(15): Show c.12+3973_12+4102del		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPON1_chr11_13957723_14273133	14160431	TTATATAT others(123): Show TTATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATATTTACATATATATATTTATATATATATTTACATATAT ATATTTATATATATATTTATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	224	0.0045	-130	c.825 others(19): Show c.825+24873_825+25002del		SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
STON1_chr2_48525154_48603513	48564478	TCTTTCTT others(123): Show TCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCT TCTCCTCCTCCTCCTCCTCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02723.hp2 others(2): Show HG02630.hp2 HG02717.hp2 HG02723.hp2 NA19055.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0009 others(1): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0009 a0002c0002t0023	a0002c0002t0002g0196 a0002c0002t0002g0200 a0002c0002t0007g0224 others(2): Show a0002c0002t0002g0196 a0002c0002t0002g0200 a0002c0002t0007g0224 a0002c0002t0009g0120 a0002c0002t0023g0187	5	376	0.0133	-130	c.-47 others(19): Show c.-47-16105_-47-15976del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
SV2C_chr5_76078383_76338956	76172290	GGGGGGGG others(123): Show GGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02895.hp1 HG02922.hp1 others(1): Show HG02723.hp1 HG02895.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0100 a0001c0002t0103 a0001c0002t0106 others(1): Show a0001c0002t0100 a0001c0002t0103 a0001c0002t0106 a0001c0002t0107	a0001c0002t0100g0206 a0001c0002t0103g0148 a0001c0002t0106g0210 others(1): Show a0001c0002t0100g0206 a0001c0002t0103g0148 a0001c0002t0106g0210 a0001c0002t0107g0207	4	234	0.0171	-130	c.581 others(19): Show c.581-22620_581-22491del		SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SYCE1L_chr16_77194408_77218215	77212288	TGGTGCGC others(123): Show TGGTGCGCGCCAAGCTGCGGGAGGTGGAGCGGCGGCTGCACTCGCCGCCT GAGGTCGAGGGCGCCATGGCGGTGAATGACGGGTGAGAGGGGAAGGGAGG AGTGGGCGAGGAGGGCAGGGGCAGGGCGGAG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01934.hp2 HG01934.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0002 a0010c0012t0002	a0010c0012t0002g0173 a0010c0012t0002g0173	1	442	0.0023	-130	c.503 others(10): Show c.503_581+51del	p.Val others(5): Show p.Val168fs	SYCE1L	ENSG00000205078.6	transcript	ENST00000378644.5	protein_coding	9/11	547/1057	503/729	168/242		INFO_REALIGN_3_PRIME	chr16	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(123): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATATATATACACACACATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02145.hp1 others(11): Show HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02523.hp1 HG03130.hp2 HG03139.hp2 HG03490.hp2 NA18963.hp2 NA18977.hp1 NA19001.hp2 NA19030.hp1 NA19062.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0164 a0001c0001t0002g0093 a0001c0001t0002g0112 others(10): Show a0001c0001t0001g0164 a0001c0001t0002g0093 a0001c0001t0002g0112 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0168 a0001c0001t0003g0020 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0169 a0001c0001t0004g0063 a0001c0001t0006g0056 a0001c0001t0006g0134	14	414	0.0338	-130	c.106 others(17): Show c.106+2900_106+3029del		TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3						chr1	TogoVar
TIAM2_chr6_154990315_155262723	155027737	ATATATAA others(123): Show ATATATAATATATGTACTGTGTTACATATATACTATATATAATATATGTA CTGTGTTACATATATACTATATATAATATATGTACTGTGATACATATATA CTATATATAATATATGTACTGTGTTATATAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0186 a0001c0002t0013g0186	1	230	0.0044	-130	c.-20 others(21): Show c.-209+32284_-209+32413del		TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr6	TogoVar
TIMM22_chr17_992129_1008671	1006842	GCGCCATG others(123): Show GCGCCATGACGTCATGGGACCGTCACCCTCCGCCAGCCACGGGCCCGGGC GGTGCCAGGGTACCTGCGCCATGACGTCATGGGACCGTCACCCTCCGCCA GCCACGGGCCCGGGCGGTGCCAGGGTACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02647.hp1 HG02647.hp2 others(18): Show HG01192.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG03516.hp2 HG03669.hp2 HG03927.hp2 HG04199.hp2 NA18941.hp1 NA18942.hp2 NA18971.hp2 NA18977.hp2 NA18998.hp1 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19065.hp1 NA19087.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 others(5): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0029 a0001c0001t0038	a0001c0001t0007g0012 a0001c0001t0007g0062 a0001c0001t0009g0011 others(7): Show a0001c0001t0007g0012 a0001c0001t0007g0062 a0001c0001t0009g0011 a0001c0001t0013g0112 a0001c0001t0017g0029 a0001c0001t0017g0107 a0001c0001t0018g0042 a0001c0001t0024g0041 a0001c0001t0029g0091 a0001c0001t0038g0012	21	439	0.0478	-130	c.57 others(11): Show c.5755_*5884del		TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding					3172		chr17	TogoVar
TMEM163_chr2_134450759_134724000	134607727	GTGAAAAG others(123): Show GTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACC CCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG02895.hp1 others(1): Show HG02818.hp2 HG02886.hp2 HG02895.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0012 a0001c0001t0002g0008 a0001c0001t0002g0013 others(1): Show a0001c0001t0001g0012 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0005g0011	4	222	0.0180	-130	c.323 others(19): Show c.323-55766_323-55637del		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
TMEM170A_chr16_75438054_75469689	75457083	ACCTGGCT others(123): Show ACCTGGCTGCTGTCTGCCCCATACTGACCTGAGATCAGCCCTGGGTCCCT GCTATCCAGGGCTTCTGCTGGAGCTGCCAGAGTTTTAGAGAGAAGCTCTG CTTTCTGCAGTAACTCAAGGCACTGCTGGAG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	361	0.0028	-130	c.134 others(17): Show c.134-5374_134-5245del		TMEM170A	ENSG00000166822.13	transcript	ENST00000561878.2	protein_coding	1/2						chr16	TogoVar
TMEM68_chr8_55733758_55778378	55763718	ATCAATAT others(123): Show ATCAATATCTACCTAATTCAGTAAAAGTAACCCAATTCTTTACGAAATGA TTACATACATTAATGGATATTGTTTTTTTATAGAGAAACAGATTTACAAA AGTTCATTATGCAATAAAAATTTATCAGTAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(323): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0005t0001 a0002c0003t0003 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(282): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0069 a0001c0001t0002g0120 a0001c0001t0002g0139 a0001c0001t0002g0152 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0324 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0016 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0071 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0006g0008 a0001c0001t0006g0022 a0001c0001t0006g0068 a0001c0001t0006g0138 a0001c0001t0006g0148 a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0197 a0001c0001t0006g0198 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0141 a0001c0001t0007g0157 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0251 a0001c0001t0012g0275 a0001c0001t0013g0209 a0001c0001t0014g0325 a0001c0002t0002g0015 a0001c0002t0002g0070 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0005t0001g0286 a0002c0003t0003g0084 a0003c0004t0001g0147	326	372	0.8763	-130	c.-70 others(14): Show c.-70+88_-70+217del		TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	2/7						chr8	TogoVar
TMPRSS2_chr21_41459305_41513158	41475509	GGTGAGGT others(123): Show GGTGAGGTGGTGAGTGAGGGGGTGAAGGGTGAGTGAGGGGGTGAGGAGGT GAGTGAGGAGGTGACGGGGTGGGGTGAGGGAGGGATGAGGGGGAGAGTGA GGAGGTGAGGAGGTGAGTGAGGGTTGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01069.hp1 others(49): Show HG00140.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG02129.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0024 a0005c0018 a0006c0021	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0023 a0001c0004t0001 a0001c0008t0001 a0001c0008t0003 a0001c0008t0009 a0001c0024t0001 a0005c0018t0001 a0006c0021t0001	a0001c0001t0001g0228 a0001c0001t0001g0369 a0001c0001t0001g0371 others(47): Show a0001c0001t0001g0228 a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0341 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0079 a0001c0002t0001g0084 a0001c0002t0001g0107 a0001c0002t0001g0140 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0001g0190 a0001c0002t0001g0207 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0275 a0001c0002t0001g0279 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0300 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0328 a0001c0002t0009g0074 a0001c0002t0009g0223 a0001c0002t0009g0251 a0001c0002t0009g0314 a0001c0002t0023g0266 a0001c0004t0001g0335 a0001c0008t0001g0063 a0001c0008t0001g0143 a0001c0008t0001g0232 a0001c0008t0001g0332 a0001c0008t0003g0070 a0001c0008t0009g0310 a0001c0024t0001g0276 a0005c0018t0001g0124 a0006c0021t0001g0129	52	382	0.1361	-130	c.727 others(16): Show c.727+938_727+1067del		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TNS1_chr2_217794791_218007995	217797007	GAGATCGC others(123): Show GAGATCGCACCACTGCACTCCAGCCTCCTGGGTGACGGAGTGAGATTCTG TCTCGAAAGAAAAAAAGAAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAA AGAAAGAAAATGCAAAGGTCCTTTGGGTATT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0005 a0003c0021t0005	a0003c0021t0005g0173 a0003c0021t0005g0173	1	244	0.0041	-130	c.73 others(11): Show c.7322_*7451del		TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding					2783		chr2	TogoVar
TRAPPC11_chr4_183654293_183718589	183715962	GAGCGCAG others(123): Show GAGCGCAGTGGCATGATCTCAGGTCACTGCAACATCCGCCTCCCAGTTTC AAGCAATTCTCCTGCCTCGGCCTCCCTAGTAGCTGGGATTAGAGGTGTCC ACCACCATACCCAGCTAATTTTTGTATTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0240 a0003c0005t0001g0240	1	420	0.0024	-130	c.33 others(11): Show c.3319_*3448del		TRAPPC11	ENSG00000168538.16	transcript	ENST00000334690.11	protein_coding					2374		chr4	TogoVar
TRPC4AP_chr20_34997404_35097807	35097361	ACATATAC others(123): Show ACATATACATATATACACACGTGTGTATATACATATACATATGTACACAC GTGTGTATATATACATATGTACACACGTGTGTATATATACATATGTACAC ACGTGTGTATATATACATATGTACACACGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	334	0.0030	-130	c.-47 others(11): Show c.-4710_-4581del		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4555		chr20	TogoVar
USP13_chr3_179648040_179794401	179727707	AGGCAGAG others(123): Show AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCTGGGCAGGGGGCTGACCCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02717.hp1 HG02055.hp2 HG02257.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0015 a0001c0002t0015 a0001c0003t0001 a0001c0001t0015 a0001c0002t0015 a0001c0003t0001	a0001c0001t0015g0292 a0001c0002t0015g0130 a0001c0003t0001g0240 a0001c0001t0015g0292 a0001c0002t0015g0130 a0001c0003t0001g0240	3	300	0.0100	-130	c.108 others(19): Show c.1089-2405_1089-2276del		USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
USP40_chr2_233470526_233571782	233567318	TATTATAG others(123): Show TATTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATAT AAGATTATAGCTATATAACCTTATATAAGATTATAGCTATATAACCTTAT ATAAGATTATAGCTATATAACCTTATATAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG02895.hp1 HG02647.hp2 HG02723.hp1 HG02895.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0026 a0006c0006t0004g0027 a0006c0006t0004g0033 a0006c0006t0004g0026 a0006c0006t0004g0027 a0006c0006t0004g0033	3	324	0.0093	-130	c.-78 others(9): Show c.-784_-655del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					537		chr2	TogoVar
VPS53_chr17_503668_719839	505131	ACAGTGGT others(123): Show ACAGTGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCTTC GAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTGTAGAAGA GCATTGATGACCTTCGAGATCAGGGTCAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0221 a0001c0002t0086g0221	1	232	0.0043	-130	c.13 others(13): Show c.13867_*13996del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding					3536		chr17	TogoVar
VPS53_chr17_503668_719839	505896	AAGATCAG others(123): Show AAGATCAGGGTCAGGACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGA GCACCGGTGACCCTCAAGAGCGGGGTCAGGACAGTGGTTGAGATGGAAGC TGACTTTGTAGAAGAGCATTGGTGACCTTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(42): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00438.hp2 HG00741.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp2 NA18945.hp2 NA18967.hp2 NA18978.hp2 NA18983.hp2 NA18987.hp2 NA19009.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0007c0012	a0001c0001t0002 a0001c0001t0016 a0001c0001t0030 others(26): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0030 a0001c0001t0084 a0001c0001t0106 a0001c0001t0107 a0001c0001t0110 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0128 a0001c0002t0109 a0001c0006t0021 a0001c0006t0039 a0001c0006t0040 a0001c0006t0053 a0001c0006t0057 a0001c0007t0011 a0001c0007t0012 a0001c0007t0023 a0001c0007t0062 a0001c0007t0070 a0002c0003t0099 a0007c0012t0129	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(42): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0016g0118 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0084g0046 a0001c0001t0106g0117 a0001c0001t0107g0212 a0001c0001t0110g0127 a0001c0001t0113g0122 a0001c0001t0114g0142 a0001c0001t0115g0136 a0001c0001t0116g0138 a0001c0001t0117g0230 a0001c0001t0119g0144 a0001c0001t0120g0211 a0001c0001t0121g0143 a0001c0001t0128g0132 a0001c0002t0109g0222 a0001c0006t0021g0100 a0001c0006t0021g0101 a0001c0006t0039g0003 a0001c0006t0040g0002 a0001c0006t0053g0102 a0001c0006t0057g0103 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0108 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0023g0107 a0001c0007t0023g0109 a0001c0007t0062g0104 a0001c0007t0070g0112 a0002c0003t0099g0192 a0007c0012t0129g0140	45	232	0.1940	-130	c.13 others(13): Show c.13102_*13231del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding					2771		chr17	TogoVar
VSIR_chr10_71742556_71778520	71760119	GTGTATAT others(123): Show GTGTATATATATGTATATACATATATATGTGTGTATATATATGTATATAC ATATATATGTGTGTATATATATGTATATACATATATATGTGTGTATATAT GTGTATATATATGTATATACATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02630.hp1 others(9): Show HG02258.hp2 HG02572.hp2 HG02630.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp2 HG03516.hp1 HG06807.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0031 a0001c0001t0039 a0001c0001t0046 others(6): Show a0001c0001t0031 a0001c0001t0039 a0001c0001t0046 a0001c0001t0065 a0001c0001t0066 a0001c0003t0064 a0001c0004t0039 a0001c0004t0040 a0002c0002t0063	a0001c0001t0031g0020 a0001c0001t0039g0255 a0001c0001t0046g0254 others(7): Show a0001c0001t0031g0020 a0001c0001t0039g0255 a0001c0001t0046g0254 a0001c0001t0065g0160 a0001c0001t0066g0137 a0001c0003t0064g0221 a0001c0004t0039g0234 a0001c0004t0040g0243 a0001c0004t0040g0244 a0002c0002t0063g0080	12	462	0.0260	-130	c.568 others(15): Show c.568+619_568+748del		VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/6						chr10	TogoVar
YAF2_chr12_42152104_42243248	42228268	CGCCAGCC others(123): Show CGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCTGC CCGGCCAGCCACCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCTCTCTGCCCG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02647.hp1 others(2): Show HG02451.hp1 HG02486.hp1 HG02647.hp1 HG03225.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0015 a0001c0003t0001 a0001c0003t0015	a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 others(2): Show a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0015g0368 a0001c0003t0015g0369	5	374	0.0134	-130	c.152 others(17): Show c.152+9201_152+9330del		YAF2	ENSG00000015153.15	transcript	ENST00000534854.7	protein_coding	2/3						chr12	TogoVar
ZNF407_chr18_74592870_75070671	74916282	TGTGTGTG others(123): Show TGTGTGTGCATGTGTGTGCTGGTATGGTGAGGTTGTGTGCAGCATTGGTT CGAATCGGGAGTGTGTGTGTGTGTGCGTGCATGTGTGTGCTGGTATGGTG AGGTTGTGTGCAGTATTGGTTCGAATCGGGA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	92	0.0109	-130	c.525 others(19): Show c.5250-4224_5250-4095del		ZNF407	ENSG00000215421.10	transcript	ENST00000299687.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF410_chr14_73881859_73937521	73910801	GCAGTGAG others(123): Show GCAGTGAGTTGTGATTGCGCCACTGCACTGCAGCCTGGGTGACAGGGCGA GACCCTGTCTCAAAAAAAAAAAAAAAAAAGTGGTAGTGAAGATAAGGAGG GAAAGGGGGCTTTCCAGTTGTCAGGCTGACT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02615.hp1 others(7): Show HG01891.hp1 HG02258.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0149 others(7): Show a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162	10	400	0.0250	-130	c.100 others(19): Show c.1003+1374_1003+1503del		ZNF410	ENSG00000119725.21	transcript	ENST00000555044.6	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
ZNF511_chr10_133303914_133318161	133317816	CCCCCCCA others(123): Show CCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACAGA GATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCACAC CCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	282	0.0036	-130	c.49 others(11): Show c.4951_*5080del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4656		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393891	AGGCAGGT others(123): Show AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0074 a0004c0017t0074	a0004c0017t0074g0301 a0004c0017t0074g0301	1	346	0.0029	-130	c.181 others(21): Show c.1811-13718_1811-13589del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394568	CGGGTGGT others(123): Show CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp2 HG01243.hp2 HG02922.hp2	a0001 a0001	a0001c0028 a0001c0044 a0001c0028 a0001c0044	a0001c0028t0071 a0001c0044t0113 a0001c0028t0071 a0001c0044t0113	a0001c0028t0071g0128 a0001c0044t0113g0107 a0001c0028t0071g0128 a0001c0044t0113g0107	2	346	0.0058	-130	c.181 others(21): Show c.1811-14395_1811-14266del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76432230	ACCAACAC others(123): Show ACCAACACCGTGCAAAGCACCAGCACCATCGATACCTGCTCACCCCATAG GCCTCTGCCTTGAGTGCTCATGCTGTGGAAAGCCTCAGTACTGTCATTAC CTGCTCTCCCCACAGGTCTCTGCCTTCCGTG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	346	0.0029	-130	c.181 others(19): Show c.1810+8885_1810+9014del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF557_chr19_7064703_7092968	7074796	GGGGGTGT others(123): Show GGGGGTGTGACCGAGGCAGGGCACGGGCTGGAGAGGGGGTGACCGAGGCA GGGCACGGGCAGGAGGGGGGGTGACCGAGGCAGGGCACGGGCAGGAGACG GGGTGACCGAGGCAGGGCACGGGCAGGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG03041.hp1 others(2): Show HG01109.hp2 HG01891.hp1 HG03041.hp1 HG03209.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0015 a0001c0001t0079 a0002c0005t0058 others(1): Show a0001c0001t0015 a0001c0001t0079 a0002c0005t0058 a0002c0005t0163	a0001c0001t0015g0317 a0001c0001t0079g0320 a0002c0005t0058g0318 others(2): Show a0001c0001t0015g0317 a0001c0001t0079g0320 a0002c0005t0058g0318 a0002c0005t0058g0321 a0002c0005t0163g0319	5	432	0.0116	-130	c.-79 others(14): Show c.-79-193_-79-64del		ZNF557	ENSG00000130544.12	transcript	ENST00000252840.11	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF609_chr15_64455578_64691068	64577336	CATATATA others(123): Show CATATATATGTATATATATACACATATATGTATATATATACACATATAAA TATATACACATATATGTATATATATACACATATAAATATATACACATATA TGTATATATATACACATATAAATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG02451.hp1 others(3): Show HG00140.hp2 HG01109.hp1 HG02451.hp1 HG02572.hp1 HG03041.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0002t0016 others(1): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0016 a0001c0002t0027	a0001c0001t0001g0014 a0001c0001t0001g0153 a0001c0002t0007g0069 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0153 a0001c0002t0007g0069 a0001c0002t0007g0070 a0001c0002t0016g0016 a0001c0002t0027g0068	6	176	0.0341	-130	c.748 others(19): Show c.748-45484_748-45355del		ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF723_chr19_22827291_22863667	22862490	TATGTAAT others(123): Show TATGTAATATAATATATATATTATATATGTAATATAATATATAATATATG TAATATAATATATATTATATATGTAATATAATATATATTATATATGTAAT ATAATATATATTATATATGTAATATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01074.hp1 HG01358.hp1 others(34): Show HG00609.hp1 HG01074.hp1 HG01358.hp1 HG02080.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02896.hp1 HG03017.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03654.hp1 HG03942.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp2 NA18956.hp2 NA18960.hp1 NA18973.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19012.hp2 NA19043.hp2 NA19070.hp1 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002	a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0047 others(31): Show a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0121 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0236 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0003g0018 a0002c0002t0003g0019 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0063 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0075 a0002c0002t0004g0036 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0246 a0003c0003t0002g0017	37	364	0.1017	-130	c.40 others(11): Show c.4058_*4187del		ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding					3824		chr19	TogoVar
ABCC1_chr16_15944616_16148053	16003158	AGATGGAT others(122): Show AGATGGATTGATGGGTGAATGAATTGGTAGGTGGGTAGGGTGGATGGATG AATTGGTGGATGGGTAGGTGGATGGATGAATGAACTGGTGGGTTGCTGGA TGGGTGGATGAATTGGTAGGTGGGTGGATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00609.hp1 others(51): Show HG00280.hp1 HG00408.hp2 HG00609.hp1 HG00738.hp1 HG01928.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp1 NA18952.hp2 NA18953.hp1 NA18964.hp1 NA18971.hp1 NA18978.hp2 NA18983.hp1 NA18998.hp1 NA18998.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0022 a0001c0035 a0001c0040 a0001c0041 a0001c0042 a0002c0010 a0003c0039 a0011c0036	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0007 a0001c0003t0026 a0001c0004t0002 a0001c0007t0001 a0001c0007t0005 a0001c0007t0008 a0001c0008t0009 a0001c0009t0008 a0001c0013t0002 a0001c0022t0009 a0001c0035t0002 a0001c0040t0015 a0001c0041t0027 a0001c0042t0005 a0002c0010t0002 a0003c0039t0006 a0011c0036t0001	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0086 others(51): Show a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0001g0179 a0001c0001t0001g0248 a0001c0001t0003g0031 a0001c0001t0004g0111 a0001c0001t0005g0109 a0001c0001t0008g0186 a0001c0001t0011g0032 a0001c0001t0012g0033 a0001c0002t0001g0050 a0001c0002t0001g0103 a0001c0002t0001g0209 a0001c0002t0001g0232 a0001c0002t0002g0193 a0001c0002t0003g0196 a0001c0002t0007g0037 a0001c0002t0008g0140 a0001c0003t0001g0164 a0001c0003t0001g0189 a0001c0003t0001g0202 a0001c0003t0001g0212 a0001c0003t0001g0218 a0001c0003t0003g0197 a0001c0003t0005g0035 a0001c0003t0005g0091 a0001c0003t0005g0175 a0001c0003t0007g0078 a0001c0003t0007g0224 a0001c0003t0026g0036 a0001c0004t0002g0005 a0001c0004t0002g0060 a0001c0004t0002g0158 a0001c0004t0002g0159 a0001c0007t0001g0026 a0001c0007t0005g0027 a0001c0007t0005g0113 a0001c0007t0008g0115 a0001c0008t0009g0004 a0001c0008t0009g0020 a0001c0008t0009g0185 a0001c0009t0008g0089 a0001c0013t0002g0090 a0001c0013t0002g0156 a0001c0013t0002g0191 a0001c0022t0009g0006 a0001c0035t0002g0201 a0001c0040t0015g0182 a0001c0041t0027g0184 a0001c0042t0005g0183 a0002c0010t0002g0076 a0003c0039t0006g0217 a0011c0036t0001g0122	54	249	0.2169	-129	c.49- others(15): Show c.49-4521_49-4393del		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	16003295	TGATGGGT others(122): Show TGATGGGTGAATGAATTGGTAGGTGGGTAGGGTGGATGGATGAATTGGTG GATGGGTAGGTGGATGGATGAATGAACTGGTGGGTTGCTGGATGGGTGGA TGAATTGGTAGGTGGGTGGATGGATGGATG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(170): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18952.hp1 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18978.hp1 NA18983.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0014 a0001c0017 a0001c0020 a0001c0023 a0001c0028 a0001c0029 a0001c0030 a0001c0033 a0001c0037 a0002c0010 a0002c0011 a0003c0026 a0003c0038 a0004c0024 a0004c0025 a0004c0031 a0005c0034 a0006c0018 a0007c0016 a0008c0021 a0009c0027 a0010c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(70): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0018 a0001c0002t0019 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0008 a0001c0003t0014 a0001c0003t0025 a0001c0004t0002 a0001c0004t0006 a0001c0004t0013 a0001c0004t0028 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0007 a0001c0006t0002 a0001c0007t0011 a0001c0008t0009 a0001c0009t0003 a0001c0009t0023 a0001c0012t0002 a0001c0012t0011 a0001c0012t0012 a0001c0014t0003 a0001c0017t0002 a0001c0020t0002 a0001c0023t0001 a0001c0028t0002 a0001c0029t0002 a0001c0030t0001 a0001c0033t0015 a0001c0037t0012 a0002c0010t0002 a0002c0011t0003 a0002c0011t0007 a0003c0026t0006 a0003c0038t0006 a0004c0024t0021 a0004c0025t0006 a0004c0031t0009 a0005c0034t0003 a0006c0018t0003 a0007c0016t0006 a0008c0021t0006 a0009c0027t0001 a0010c0019t0010	a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0001t0001g0069 others(170): Show a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0061 a0001c0001t0003g0071 a0001c0001t0003g0143 a0001c0001t0003g0236 a0001c0001t0004g0106 a0001c0001t0004g0118 a0001c0001t0004g0132 a0001c0001t0004g0166 a0001c0001t0004g0240 a0001c0001t0004g0247 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0094 a0001c0001t0005g0099 a0001c0001t0005g0101 a0001c0001t0005g0104 a0001c0001t0005g0107 a0001c0001t0006g0034 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0167 a0001c0001t0006g0220 a0001c0001t0007g0079 a0001c0001t0008g0002 a0001c0001t0008g0054 a0001c0001t0008g0057 a0001c0001t0008g0246 a0001c0001t0010g0042 a0001c0001t0010g0043 a0001c0001t0010g0087 a0001c0001t0010g0120 a0001c0001t0011g0097 a0001c0001t0012g0105 a0001c0001t0014g0199 a0001c0001t0016g0018 a0001c0001t0016g0019 a0001c0001t0017g0021 a0001c0001t0017g0023 a0001c0001t0018g0176 a0001c0001t0020g0102 a0001c0001t0024g0211 a0001c0002t0001g0028 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0163 a0001c0002t0001g0180 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0221 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0002g0112 a0001c0002t0002g0150 a0001c0002t0003g0014 a0001c0002t0003g0059 a0001c0002t0003g0142 a0001c0002t0003g0190 a0001c0002t0003g0195 a0001c0002t0003g0233 a0001c0002t0004g0010 a0001c0002t0004g0178 a0001c0002t0004g0192 a0001c0002t0004g0204 a0001c0002t0004g0225 a0001c0002t0005g0117 a0001c0002t0006g0108 a0001c0002t0006g0187 a0001c0002t0007g0157 a0001c0002t0008g0046 a0001c0002t0008g0162 a0001c0002t0010g0085 a0001c0002t0018g0045 a0001c0002t0019g0100 a0001c0003t0001g0039 a0001c0003t0001g0144 a0001c0003t0001g0152 a0001c0003t0001g0165 a0001c0003t0001g0177 a0001c0003t0001g0242 a0001c0003t0003g0161 a0001c0003t0003g0203 a0001c0003t0004g0055 a0001c0003t0004g0188 a0001c0003t0004g0230 a0001c0003t0004g0237 a0001c0003t0007g0135 a0001c0003t0008g0056 a0001c0003t0008g0227 a0001c0003t0014g0219 a0001c0003t0025g0141 a0001c0004t0002g0136 a0001c0004t0002g0146 a0001c0004t0002g0168 a0001c0004t0002g0172 a0001c0004t0002g0198 a0001c0004t0002g0200 a0001c0004t0002g0205 a0001c0004t0002g0206 a0001c0004t0006g0114 a0001c0004t0013g0047 a0001c0004t0013g0048 a0001c0004t0028g0170 a0001c0005t0001g0058 a0001c0005t0001g0065 a0001c0005t0004g0131 a0001c0005t0004g0169 a0001c0005t0004g0241 a0001c0005t0005g0095 a0001c0005t0005g0116 a0001c0005t0005g0119 a0001c0005t0007g0228 a0001c0006t0002g0013 a0001c0006t0002g0044 a0001c0006t0002g0053 a0001c0006t0002g0073 a0001c0006t0002g0075 a0001c0007t0011g0022 a0001c0008t0009g0015 a0001c0008t0009g0016 a0001c0009t0003g0063 a0001c0009t0003g0147 a0001c0009t0003g0148 a0001c0009t0023g0145 a0001c0012t0002g0155 a0001c0012t0011g0081 a0001c0012t0012g0239 a0001c0014t0003g0149 a0001c0017t0002g0007 a0001c0020t0002g0194 a0001c0023t0001g0077 a0001c0028t0002g0066 a0001c0029t0002g0173 a0001c0030t0001g0181 a0001c0033t0015g0098 a0001c0037t0012g0041 a0002c0010t0002g0127 a0002c0010t0002g0128 a0002c0010t0002g0129 a0002c0011t0003g0126 a0002c0011t0003g0130 a0002c0011t0003g0223 a0002c0011t0007g0052 a0003c0026t0006g0231 a0003c0038t0006g0092 a0004c0024t0021g0003 a0004c0025t0006g0001 a0004c0031t0009g0110 a0005c0034t0003g0249 a0006c0018t0003g0123 a0007c0016t0006g0088 a0008c0021t0006g0151 a0009c0027t0001g0029 a0010c0019t0010g0009	173	249	0.6948	-129	c.49- others(15): Show c.49-4482_49-4354del		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ACAP2_chr3_195269745_195448020	195302896	GCAACAGA others(122): Show GCAACAGAGCAAGAGCCTGTCTCTAAAAAAGAATATGTCTGGGCACAATG GCTCATGTCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGTGGATCAC TTTAGGCCAGGAGTTCAAGACCAGCCTGGC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	324	0.0031	-129	c.111 others(17): Show c.1117-851_1117-723del		ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	13/22						chr3	TogoVar
ADAMTS14_chr10_70667506_70767441	70686935	ACCCCCAC others(122): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG02280.hp2 others(2): Show HG00639.hp2 HG02145.hp1 HG02280.hp2 HG02622.hp1 HG02970.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0087 a0001c0088 a0002c0001 others(2): Show a0001c0087 a0001c0088 a0002c0001 a0003c0090 a0006c0089	a0001c0087t0003 a0001c0088t0002 a0002c0001t0005 others(2): Show a0001c0087t0003 a0001c0088t0002 a0002c0001t0005 a0003c0090t0058 a0006c0089t0001	a0001c0087t0003g0299 a0001c0088t0002g0298 a0002c0001t0005g0055 others(2): Show a0001c0087t0003g0299 a0001c0088t0002g0298 a0002c0001t0005g0055 a0003c0090t0058g0301 a0006c0089t0001g0300	5	354	0.0141	-129	c.522 others(19): Show c.522+12044_522+12172del		ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
AGRN_chr1_1015120_1061116	1016932	GCCCAAAG others(122): Show GCCCAAAGTGCTGGGATCACAAGCGTGAGTTACCGTGCCCTGTCTGTATT TATAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTAC TGACCTCAAGTGATCCGCCCACCTCGGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	210	0.0048	-129	c.-32 others(11): Show c.-3240_-3112del		AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding					3187		chr1	TogoVar
ALK_chr2_29187774_29926586	29280585	CAGGGAAA others(122): Show CAGGGAAAGTTCTAGTATGTACCAGGTGGACCACTCTGGGACTGAGGGAA AGTTCTAGAATGTACCAGGTAGCCCACTCTGGGACCAAGGGAAAGTTCTA GTATGTACCAGGTGGTCCATTCTGGGATTG	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02897.hp2 HG03209.hp1 HG02257.hp1 HG02897.hp2 HG03209.hp1	a0002 a0002	a0002c0011 a0002c0052 a0002c0056 a0002c0011 a0002c0052 a0002c0056	a0002c0011t0001 a0002c0052t0001 a0002c0056t0001 a0002c0011t0001 a0002c0052t0001 a0002c0056t0001	a0002c0011t0001g0042 a0002c0052t0001g0017 a0002c0056t0001g0040 a0002c0011t0001g0042 a0002c0052t0001g0017 a0002c0056t0001g0040	3	80	0.0375	-129	c.181 others(19): Show c.1818-5218_1818-5090del		ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	9/28						chr2	TogoVar
ARHGEF18_chr19_7343937_7477478	7362041	GAGAAGGA others(122): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGGAGAAGAAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 NA19240.hp2 HG02895.hp1 HG02965.hp2 NA19240.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0041 a0001c0001 a0019c0041	a0001c0001t0004 a0001c0001t0005 a0019c0041t0002 a0001c0001t0004 a0001c0001t0005 a0019c0041t0002	a0001c0001t0004g0293 a0001c0001t0005g0296 a0019c0041t0002g0298 a0001c0001t0004g0293 a0001c0001t0005g0296 a0019c0041t0002g0298	3	298	0.0101	-129	c.-11 others(17): Show c.-110-728_-110-600del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111310111	GCATTAGT others(122): Show GCATTAGTTCTCTGTGTTGATGGTTAAAGGACTGCATGGAAAGGCATCAG TTCTCCGTGTTGATGGTTAGAGGACTGCATGGAAAGGTGTCAGTTCTCCG TGTTGATGGTTAAAGGACTGCATGGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 homoSapiens_chm13v2.hp1 HG01243.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0117 a0001c0005t0020g0118 a0001c0005t0020g0117 a0001c0005t0020g0118	2	274	0.0073	-129	c.69 others(11): Show c.6999_*7127del		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding					4380		chr13	TogoVar
ARL5A_chr2_151793797_151833421	151832063	CCAGCCTG others(122): Show CCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAGAAAGAAAAAAAAAAG AAAAATTCTTTTGAGAGAGAAGTTTCAGTGAACTTTGGTTTCCTCATTTG TATTTGTATCTCATAATCCATGCCCGGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0122 a0001c0002t0053g0122	1	380	0.0026	-129	c.-40 others(11): Show c.-4016_-3888del		ARL5A	ENSG00000162980.17	transcript	ENST00000295087.13	protein_coding					3643		chr2	TogoVar

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